#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
ABCG8	64241	broad.mit.edu	37	2	44101581	44101581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:44101581G>A	ENST00000272286.2	+	10	1537	c.1447G>A	c.(1447-1449)Gaa>Aaa	p.E483K		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	483	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CTATGAACTGGAAGACGGGCT	0.478																																						ENST00000272286.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45						c.(1447-1449)Gaa>Aaa		ATP-binding cassette, sub-family G (WHITE), member 8							149.0	157.0	154.0					2																	44101581		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44101581G>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.1447G>A	2.37:g.44101581G>A	ENSP00000272286:p.Glu483Lys						p.E483K	NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN			10	1537	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	483			ABC transmembrane type-2.		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.1447G>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120433	0.77323	.	.	ENSG00000143921	ENST00000272286	T	0.71461	-0.57	5.53	5.53	0.82687	ABC-2 type transporter (1);	0.045082	0.85682	D	0.000000	T	0.81889	0.4918	M	0.72479	2.2	0.80722	D	1	D;D	0.64830	0.98;0.994	P;D	0.64321	0.758;0.924	T	0.77213	-0.2670	10	0.19147	T	0.46	.	19.4936	0.95062	0.0:0.0:1.0:0.0	.	482;483	Q9H221-2;Q9H221	.;ABCG8_HUMAN	K	483	ENSP00000272286:E483K	ENSP00000272286:E483K	E	+	1	0	ABCG8	43955085	1.000000	0.71417	0.881000	0.34555	0.391000	0.30476	5.972000	0.70448	2.605000	0.88082	0.655000	0.94253	GAA		0.478	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		4	111	0	0	0	1	0	4	111				
NLRP6	171389	broad.mit.edu	37	11	281566	281566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:281566A>G	ENST00000312165.5	+	4	1832	c.1832A>G	c.(1831-1833)gAg>gGg	p.E611G	NLRP6_ENST00000534750.1_Missense_Mutation_p.E611G	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGGAGGAGGAGGGAGAGGAG	0.662																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1831-1833)gAg>gGg		NLR family, pyrin domain containing 6							76.0	89.0	84.0					11																	281566		2203	4299	6502	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281566A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1832A>G	11.37:g.281566A>G	ENSP00000309767:p.Glu611Gly					NLRP6_ENST00000312165.5_Missense_Mutation_p.E611G	p.E611G	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2037	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1832A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.454845	0.26161	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75367	-0.93;-0.9	3.22	3.22	0.36961	.	0.671525	0.12247	N	0.485944	T	0.80204	0.4580	L	0.57536	1.79	0.32256	N	0.570815	D;D	0.71674	0.998;0.998	D;D	0.72982	0.979;0.979	T	0.76013	-0.3114	10	0.21540	T	0.41	.	8.1671	0.31233	1.0:0.0:0.0:0.0	.	611;611	E9PJZ8;P59044	.;NALP6_HUMAN	G	611	ENSP00000433617:E611G;ENSP00000309767:E611G	ENSP00000309767:E611G	E	+	2	0	NLRP6	271566	0.811000	0.29063	0.618000	0.29105	0.573000	0.36030	0.753000	0.26376	1.704000	0.51252	0.379000	0.24179	GAG		0.662	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	184	0	0	0	1	0	5	184				
CDK15	65061	broad.mit.edu	37	2	202677280	202677280	+	Missense_Mutation	SNP	G	G	A	rs370446004		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:202677280G>A	ENST00000374598.4	+	4	443	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	CDK15_ENST00000260967.2_Missense_Mutation_p.R97Q|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000450471.2_Missense_Mutation_p.R148Q|CDK15_ENST00000410091.3_Missense_Mutation_p.R97Q|CDK15_ENST00000434439.1_Missense_Mutation_p.R148Q			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	148	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	ACAGCTATCCGAGAAGGTAAG	0.398																																						ENST00000450471.2																			0				breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26						c.(442-444)cGa>cAa		cyclin-dependent kinase 15	Adenosine triphosphate(DB00171)	G	GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	119.0	115.0	116.0		290	5.9	1.0	2		116	1,8599		0,1,4299	no	missense	CDK15	NM_139158.1	43	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	97/385	202677280	3,13003	2203	4300	6503	SO:0001583	missense	65061						ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding	g.chr2:202677280G>A	AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.443G>A	2.37:g.202677280G>A	ENSP00000363726:p.Arg148Gln					CDK15_ENST00000374598.4_Missense_Mutation_p.R148Q|CDK15_ENST00000488419.1_3'UTR|CDK15_ENST00000434439.1_Missense_Mutation_p.R148Q|CDK15_ENST00000410091.3_Missense_Mutation_p.R97Q|CDK15_ENST00000260967.2_Missense_Mutation_p.R97Q	p.R148Q	NM_001261435.1	NP_001248364.1	Q96Q40	CDK15_HUMAN			4	529	+			148			Protein kinase.		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	Missense_Mutation	SNP	ENST00000374598.4	37	c.443G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.338261	0.95783	4.54E-4	1.16E-4	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.92	5.92	0.95590	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72104	0.3419	M	0.78285	2.405	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.981;1.0;1.0	T	0.73714	-0.3896	10	0.87932	D	0	-20.4527	19.9123	0.97029	0.0:0.0:1.0:0.0	.	148;148;148	Q96Q40-2;Q96Q40;F8W6H8	.;CDK15_HUMAN;.	Q	97;97;148;148;148	ENSP00000386901:R97Q;ENSP00000260967:R97Q;ENSP00000406472:R148Q;ENSP00000412775:R148Q;ENSP00000363726:R148Q	ENSP00000260967:R97Q	R	+	2	0	CDK15	202385525	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.868000	0.87116	2.801000	0.96364	0.650000	0.86243	CGA		0.398	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000336053.2			5	43	0	0	0	1	0	5	43				
SEZ6	124925	broad.mit.edu	37	17	27296946	27296946	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:27296946C>T	ENST00000317338.12	-	4	1311	c.883G>A	c.(883-885)Ggg>Agg	p.G295R	SEZ6_ENST00000442608.3_Missense_Mutation_p.G295R|SEZ6_ENST00000360295.9_Missense_Mutation_p.G295R|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.G295R			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	295					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ACTGTCTCCCCTTCCCGGAGG	0.602																																						ENST00000317338.12																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29						c.(883-885)Ggg>Agg		seizure related 6 homolog (mouse)							27.0	32.0	30.0					17																	27296946		1899	4115	6014	SO:0001583	missense	124925					integral to membrane|plasma membrane		g.chr17:27296946C>T	AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.883G>A	17.37:g.27296946C>T	ENSP00000312942:p.Gly295Arg					SEZ6_ENST00000442608.3_Missense_Mutation_p.G295R|SEZ6_ENST00000360295.9_Missense_Mutation_p.G295R|SEZ6_ENST00000335960.6_Missense_Mutation_p.G295R|PIPOX_ENST00000583215.1_Intron	p.G295R			Q53EL9	SEZ6_HUMAN	Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)		4	1311	-	Lung NSC(42;0.0137)		295					B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	c.883G>A	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815842	0.70912	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000317338;ENST00000335960;ENST00000541381	T;T;T	0.50813	0.73;0.73;0.73	5.43	4.46	0.54185	CUB (2);	0.124506	0.52532	N	0.000067	T	0.65749	0.2721	M	0.74881	2.28	0.47511	D	0.999448	P;P;D	0.67145	0.796;0.934;0.996	P;P;D	0.69307	0.771;0.835;0.963	T	0.69420	-0.5150	10	0.72032	D	0.01	.	11.9041	0.52701	0.0:0.9147:0.0:0.0852	.	295;295;295	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	R	295;295;170;295;295	ENSP00000403784:G295R;ENSP00000353440:G295R;ENSP00000337407:G295R	ENSP00000312942:G170R	G	-	1	0	SEZ6	24321072	0.996000	0.38824	0.560000	0.28344	0.846000	0.48090	3.952000	0.56691	1.299000	0.44798	0.549000	0.68633	GGG		0.602	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			13	25	0	0	0	1	0	13	25				
XAB2	56949	broad.mit.edu	37	19	7690907	7690907	+	Silent	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:7690907G>C	ENST00000358368.4	-	6	718	c.681C>G	c.(679-681)ctC>ctG	p.L227L	XAB2_ENST00000534844.1_Silent_p.L224L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	227					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						TCTGGGAGATGAGGTCGCACA	0.647								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000358368.4																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(679-681)ctC>ctG	Direct reversal of damage;Nucleotide excision repair (NER)	XPA binding protein 2							63.0	60.0	61.0					19																	7690907		2203	4300	6503	SO:0001819	synonymous_variant	56949				transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding	g.chr19:7690907G>C	AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.681C>G	19.37:g.7690907G>C						XAB2_ENST00000534844.1_Silent_p.L224L	p.L227L	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN			6	718	-			227					Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	ENST00000358368.4	37	c.681C>G	CCDS32892.1																																																																																				0.647	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461021.1	NM_020196		3	53	0	0	0	1	0	3	53				
PTBP2	58155	broad.mit.edu	37	1	97270476	97270476	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:97270476T>C	ENST00000426398.2	+	9	1068	c.1025T>C	c.(1024-1026)gTt>gCt	p.V342A	PTBP2_ENST00000370198.1_Missense_Mutation_p.V347A|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.V347A|PTBP2_ENST00000541987.1_Missense_Mutation_p.V311A|PTBP2_ENST00000609116.1_Missense_Mutation_p.V342A|PTBP2_ENST00000394184.3_Missense_Mutation_p.V358A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	342	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		GTCCTGTTGGTTAGCAATTTA	0.413																																						ENST00000236228.6																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1024-1026)gTt>gCt		polypyrimidine tract binding protein 2							76.0	82.0	80.0					1																	97270476		2203	4300	6503	SO:0001583	missense	58155						nucleotide binding	g.chr1:97270476T>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.1025T>C	1.37:g.97270476T>C	ENSP00000412788:p.Val342Ala					PTBP2_ENST00000426398.2_Missense_Mutation_p.V342A|PTBP2_ENST00000394184.3_Missense_Mutation_p.V358A|PTBP2_ENST00000370197.1_Missense_Mutation_p.V347A|PTBP2_ENST00000541987.1_Missense_Mutation_p.V311A|PTBP2_ENST00000370198.1_Missense_Mutation_p.V347A|PTBP2_ENST00000482253.1_3'UTR	p.V342A	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	9	1107	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	342			RRM 3.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1025T>C	CCDS754.1	.	.	.	.	.	.	.	.	.	.	T	13.48	2.250127	0.39797	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184;ENST00000541987;ENST00000394176	T;T;T;T;T;D	0.84800	-0.04;0.0;0.01;-0.05;-0.21;-1.9	5.62	4.5	0.54988	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.111602	0.64402	D	0.000012	D	0.90477	0.7017	M	0.89163	3.01	0.58432	D	0.999999	B;B;B;B;B;B	0.34015	0.435;0.001;0.001;0.134;0.186;0.211	P;B;B;P;P;P	0.55087	0.681;0.005;0.008;0.458;0.768;0.66	D	0.90792	0.4687	10	0.72032	D	0.01	-7.4896	11.2675	0.49118	0.0:0.0714:0.0:0.9286	.	350;358;347;342;342;347	B4DSU5;B4DSS8;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;PTBP2_HUMAN;.;.	A	342;14;347;347;342;358;311;337	ENSP00000236228:V342A;ENSP00000359217:V347A;ENSP00000359216:V347A;ENSP00000412788:V342A;ENSP00000377738:V358A;ENSP00000442475:V311A	ENSP00000236228:V342A	V	+	2	0	PTBP2	97043064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.353000	0.79414	0.973000	0.38340	0.482000	0.46254	GTT		0.413	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			3	32	0	0	0	1	0	3	32				
TAF15	8148	broad.mit.edu	37	17	34171898	34171898	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171898G>T	ENST00000592237.1	+	18	1538	c.1009G>T	c.(1009-1011)Gag>Tag	p.E337*	TAF15_ENST00000311979.3_Missense_Mutation_p.G529V|TAF15_ENST00000588240.1_Missense_Mutation_p.G532V			Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGCTATGGAGGAGACCGT	0.622			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000592237.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1009-1011)Gag>Tag		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							75.0	83.0	80.0					17																	34171898		2203	4300	6503	SO:0001587	stop_gained	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171898G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000592237.1:c.1009G>T	17.37:g.34171898G>T	ENSP00000467528:p.Glu337*					TAF15_ENST00000311979.3_Missense_Mutation_p.G529V|TAF15_ENST00000588240.1_Missense_Mutation_p.G532V	p.E337*			Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	18	1538	+		Ovarian(249;0.17)	347			Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Nonsense_Mutation	SNP	ENST00000592237.1	37	c.1009G>T		.	.	.	.	.	.	.	.	.	.	G	14.61	2.587209	0.46110	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	T	0.66742	0.2820	L	0.43923	1.385	0.53688	D	0.999973	D;D	0.56035	0.957;0.974	P;P	0.61722	0.785;0.893	T	0.70317	-0.4905	8	0.87932	D	0	-4.2426	15.6468	0.77061	0.0:0.0:1.0:0.0	.	532;529	Q92804;Q92804-2	RBP56_HUMAN;.	V	532;335	.	ENSP00000309558:G532V	G	+	2	0	TAF15	31196011	1.000000	0.71417	0.986000	0.45419	0.931000	0.56810	3.779000	0.55379	2.462000	0.83206	0.591000	0.81541	GGA		0.622	TAF15-006	PUTATIVE	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000449142.1	NM_139215		28	72	1	0	3.1745e-13	1	3.74351e-13	28	72				
TCEB3	6924	broad.mit.edu	37	1	24077647	24077647	+	Silent	SNP	C	C	A	rs146669222	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:24077647C>A	ENST00000418390.2	+	4	901	c.630C>A	c.(628-630)acC>acA	p.T210T	TCEB3_ENST00000609199.1_Silent_p.T184T	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	210					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CATCTTGTACCAGTCCTCATC	0.507											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(628-630)acC>acA		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							151.0	141.0	144.0					1																	24077647		2203	4300	6503	SO:0001819	synonymous_variant	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24077647C>A	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.630C>A	1.37:g.24077647C>A			OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.T210T	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	4	901	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	210					B2R7Q8|Q8IXH1	Silent	SNP	ENST00000418390.2	37	c.630C>A	CCDS239.2																																																																																				0.507	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		8	142	1	0	5.18039e-06	1	5.68025e-06	8	142				
KRT8	3856	broad.mit.edu	37	12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T	rs201875017		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H|KRT8_ENST00000546897.1_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602																																						ENST00000552551.1																			0				endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						c.(904-906)cGc>cAc		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	31.0	33.0	32.0		905	4.4	1.0	12		32	2,8598	2.2+/-6.3	0,2,4298	no	missense	KRT8	NM_002273.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	302/484	53293635	3,13003	2203	4300	6503	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53293635C>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.905G>A	12.37:g.53293635C>T	ENSP00000447566:p.Arg302His					KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H	p.R302H			P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1337	-			302			Coil 2.|Necessary for interaction with PNN.|Rod.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.905G>A	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	8.750	0.921009	0.17982	2.27E-4	2.33E-4	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000547916;ENST00000546897;ENST00000552150	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	4.43	4.43	0.53597	Filament (1);	0.393827	0.26723	N	0.022823	T	0.48909	0.1526	N	0.04669	-0.19	0.19945	N	0.999947	B;B;B	0.12630	0.005;0.001;0.006	B;B;B	0.15484	0.013;0.003;0.009	T	0.28202	-1.0051	10	0.31617	T	0.26	.	7.5187	0.27616	0.0:0.8117:0.0:0.1883	.	330;302;302	F8VXB4;F8VU64;P05787	.;.;K2C8_HUMAN	H	302;302;302;302;330	ENSP00000447566:R302H;ENSP00000293308:R302H;ENSP00000447402:R302H;ENSP00000449404:R330H	ENSP00000293308:R302H	R	-	2	0	KRT8	51579902	0.088000	0.21588	0.991000	0.47740	0.867000	0.49689	0.720000	0.25896	2.414000	0.81942	0.555000	0.69702	CGC		0.602	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273		3	36	0	0	0	1	0	3	36				
CHD6	84181	broad.mit.edu	37	20	40045413	40045413	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:40045413G>C	ENST00000373233.3	-	33	6478	c.6301C>G	c.(6301-6303)Cta>Gta	p.L2101V	CHD6_ENST00000480022.1_5'Flank	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2101					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ATATTATCTAGGCGGTTAATT	0.468																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(6301-6303)Cta>Gta		chromodomain helicase DNA binding protein 6							37.0	31.0	33.0					20																	40045413		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40045413G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.6301C>G	20.37:g.40045413G>C	ENSP00000362330:p.Leu2101Val						p.L2101V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			33	6478	-		Myeloproliferative disorder(115;0.00425)	2101					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.6301C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.500023	0.44455	.	.	ENSG00000124177	ENST00000373233	D	0.88509	-2.39	5.47	3.4	0.38934	.	0.142450	0.32244	N	0.006367	D	0.85831	0.5788	M	0.65975	2.015	0.80722	D	1	B	0.18461	0.028	B	0.15052	0.012	D	0.83770	0.0219	10	0.66056	D	0.02	-9.4509	8.4824	0.33052	0.0845:0.0:0.653:0.2625	.	2101	Q8TD26	CHD6_HUMAN	V	2101	ENSP00000362330:L2101V	ENSP00000362330:L2101V	L	-	1	2	CHD6	39478827	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.815000	0.27253	1.433000	0.47394	0.655000	0.94253	CTA		0.468	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			7	18	0	0	0	1	0	7	18				
ITGAL	3683	broad.mit.edu	37	16	30490668	30490668	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:30490668C>T	ENST00000356798.6	+	6	642	c.462C>T	c.(460-462)aaC>aaT	p.N154N	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|RP11-297C4.3_ENST00000562525.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	154					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TCAAGGGCAACGTAGACCTGG	0.473																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(460-462)aaC>aaT		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						116.0	105.0	109.0					16																	30490668		2197	4300	6497	SO:0001819	synonymous_variant	3683				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30490668C>T		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.462C>T	16.37:g.30490668C>T						RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Intron	p.N154N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			6	642	+			154					O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	ENST00000356798.6	37	c.462C>T	CCDS32433.1																																																																																				0.473	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			3	42	0	0	0	1	0	3	42				
PTGES2	80142	broad.mit.edu	37	9	130884674	130884674	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:130884674G>A	ENST00000338961.6	-	6	1716	c.972C>T	c.(970-972)ttC>ttT	p.F324F	PTGES2_ENST00000277462.5_Silent_p.F133F|PTGES2_ENST00000483625.1_5'Flank	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	324	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GGCCCCCCATGAAGGGCCGGT	0.642																																						ENST00000338961.6																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(970-972)ttC>ttT		prostaglandin E synthase 2							116.0	112.0	113.0					9																	130884674		2203	4300	6503	SO:0001819	synonymous_variant	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130884674G>A	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.972C>T	9.37:g.130884674G>A						PTGES2_ENST00000277462.5_Silent_p.F133F	p.F324F	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN			6	1716	-			324			GST C-terminal.		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Silent	SNP	ENST00000338961.6	37	c.972C>T	CCDS6891.1																																																																																				0.642	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			31	103	0	0	0	1	0	31	103				
ASXL1	171023	broad.mit.edu	37	20	31022592	31022592	+	Nonsense_Mutation	SNP	C	C	T	rs373221034		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:31022592C>T	ENST00000375687.4	+	13	2501	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	693					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R693*(7)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGATCTACAGCGAACACAACT	0.592			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		7	Substitution - Nonsense(7)	p.R693*(7)	haematopoietic_and_lymphoid_tissue(7)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(2077-2079)Cga>Tga		additional sex combs like 1 (Drosophila)		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	45.0	47.0		2077	5.2	1.0	20		47	0,8600		0,0,4300	no	stop-gained	ASXL1	NM_015338.5		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		693/1542	31022592	1,13005	2203	4300	6503	SO:0001587	stop_gained	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022592C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.2077C>T	20.37:g.31022592C>T	ENSP00000364839:p.Arg693*					ASXL1_ENST00000306058.5_Nonsense_Mutation_p.R688*	p.R693*	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2501	+			693					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Nonsense_Mutation	SNP	ENST00000375687.4	37	c.2077C>T	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	42	9.378362	0.99153	2.27E-4	0.0	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	.	.	.	5.22	5.22	0.72569	.	0.298911	0.31834	N	0.006992	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3403	19.3627	0.94446	0.0:1.0:0.0:0.0	.	.	.	.	X	693;693;693;614;688	.	ENSP00000305119:R688X	R	+	1	2	ASXL1	30486253	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.216000	0.51176	2.894000	0.99253	0.655000	0.94253	CGA		0.592	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		13	35	0	0	0	1	0	13	35				
AHNAK2	113146	broad.mit.edu	37	14	105411723	105411723	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:105411723G>A	ENST00000333244.5	-	7	10184	c.10065C>T	c.(10063-10065)gaC>gaT	p.D3355D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3355						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.D3355E(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAATGCTGAGGTCAGTGGTCT	0.667																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.D3355E(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(10063-10065)gaC>gaT		AHNAK nucleoprotein 2							131.0	139.0	136.0					14																	105411723		1995	4155	6150	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105411723G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10065C>T	14.37:g.105411723G>A						AHNAK2_ENST00000557457.1_Intron	p.D3355D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10184	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3355					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.10065C>T	CCDS45177.1																																																																																				0.667	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		32	191	0	0	0	1	0	32	191				
CD1C	911	broad.mit.edu	37	1	158261979	158261979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:158261979A>G	ENST00000368170.3	+	3	713	c.434A>G	c.(433-435)cAg>cGg	p.Q145R		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	145					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CTGAGTTTCCAGAATACAACA	0.458																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(433-435)cAg>cGg		CD1c molecule							155.0	159.0	158.0					1																	158261979		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158261979A>G	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.434A>G	1.37:g.158261979A>G	ENSP00000357152:p.Gln145Arg						p.Q145R	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			3	713	+	all_hematologic(112;0.0378)		145					Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.434A>G	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	10.89	1.477703	0.26511	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07327	3.2	3.92	3.92	0.45320	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.000000	0.35739	N	0.003005	T	0.04634	0.0126	M	0.70903	2.155	0.09310	N	1	B	0.21520	0.057	B	0.19946	0.027	T	0.16247	-1.0409	10	0.62326	D	0.03	.	9.3922	0.38381	1.0:0.0:0.0:0.0	.	145	P29017	CD1C_HUMAN	R	145	ENSP00000357152:Q145R	ENSP00000357151:Q145R	Q	+	2	0	CD1C	156528603	0.000000	0.05858	0.028000	0.17463	0.051000	0.14879	0.784000	0.26816	1.779000	0.52309	0.524000	0.50904	CAG		0.458	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		13	131	0	0	0	1	0	13	131				
LPIN3	64900	broad.mit.edu	37	20	39987369	39987369	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:39987369C>T	ENST00000373257.3	+	20	2510	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	LPIN3_ENST00000491528.1_3'UTR	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	807					fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TAGGTATGAGCGGCTTGGTGA	0.612																																						ENST00000373257.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2419-2421)Cgg>Tgg		lipin 3							76.0	64.0	68.0					20																	39987369		2203	4300	6503	SO:0001583	missense	64900				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity	g.chr20:39987369C>T	AL132654	CCDS33469.1	20q11.2-q12	2006-04-04	2002-05-23		ENSG00000132793	ENSG00000132793			14451	protein-coding gene	gene with protein product		605520	"""lipin 3-like"""	LIPN3L		11138012	Standard	XM_005260515		Approved	SMP2	uc002xjx.3	Q9BQK8	OTTHUMG00000033056	ENST00000373257.3:c.2419C>T	20.37:g.39987369C>T	ENSP00000362354:p.Arg807Trp					LPIN3_ENST00000491528.1_3'UTR	p.R807W	NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN			20	2510	+		Myeloproliferative disorder(115;0.000739)	807					B2RTT5|Q5TDB9|Q9NPY8|Q9UJE5	Missense_Mutation	SNP	ENST00000373257.3	37	c.2419C>T	CCDS33469.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855454	0.32791	.	.	ENSG00000132793	ENST00000373257	D	0.81659	-1.52	5.18	2.15	0.27550	.	0.159287	0.42682	D	0.000671	D	0.86669	0.5988	M	0.80422	2.495	0.25720	N	0.985382	D;B	0.89917	1.0;0.149	D;B	0.91635	0.999;0.012	T	0.76416	-0.2967	9	.	.	.	-22.3079	4.6551	0.12613	0.2767:0.5164:0.1338:0.0731	.	808;807	Q9BQK8-2;Q9BQK8	.;LPIN3_HUMAN	W	807	ENSP00000362354:R807W	.	R	+	1	2	LPIN3	39420783	0.919000	0.31177	0.603000	0.28903	0.011000	0.07611	1.972000	0.40540	0.196000	0.20367	-0.983000	0.02560	CGG		0.612	LPIN3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080393.1	NM_022896		6	90	0	0	0	1	0	6	90				
AHNAK	79026	broad.mit.edu	37	11	62296029	62296029	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:62296029G>A	ENST00000378024.4	-	5	6134	c.5860C>T	c.(5860-5862)Ccc>Tcc	p.P1954S	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1954					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCACACTGGGACCTGTTAAA	0.507																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5860-5862)Ccc>Tcc		AHNAK nucleoprotein							205.0	213.0	210.0					11																	62296029		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296029G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5860C>T	11.37:g.62296029G>A	ENSP00000367263:p.Pro1954Ser					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.P1954S	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6134	-		Melanoma(852;0.155)	1954					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5860C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	11.46	1.646472	0.29246	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.02763	4.17	2.99	2.99	0.34606	.	.	.	.	.	T	0.24851	0.0603	H	0.97465	4.01	0.49051	D	0.999742	D	0.89917	1.0	D	0.91635	0.999	T	0.49844	-0.8896	9	0.72032	D	0.01	.	13.8507	0.63494	0.0:0.0:1.0:0.0	.	1954	Q09666	AHNK_HUMAN	S	43;1954	ENSP00000367263:P1954S	ENSP00000244934:P43S	P	-	1	0	AHNAK	62052605	1.000000	0.71417	0.005000	0.12908	0.001000	0.01503	6.245000	0.72398	1.384000	0.46424	0.401000	0.26515	CCC		0.507	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		19	216	0	0	0	1	0	19	216				
COL11A1	1301	broad.mit.edu	37	1	103352614	103352614	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:103352614T>A	ENST00000370096.3	-	63	4921		c.e63-2		COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site|COL11A1_ENST00000512756.1_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTGGACCCTGTAAAGAAGA	0.348																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.e63-2		collagen, type XI, alpha 1							130.0	121.0	124.0					1																	103352614		2203	4300	6503	SO:0001630	splice_region_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103352614T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4609-2A>T	1.37:g.103352614T>A						COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000370096.3_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site		NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	63	4962	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)						B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	ENST00000370096.3	37		CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	13.86	2.362559	0.41902	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6535	0.77115	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103125202	1.000000	0.71417	0.978000	0.43139	0.187000	0.23431	8.040000	0.89188	2.107000	0.64212	0.260000	0.18958	.		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630	Intron	21	55	0	0	0	1	0	21	55				
PSMA5	5686	broad.mit.edu	37	1	109954752	109954752	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:109954752C>A	ENST00000271308.4	-	5	366	c.346G>T	c.(346-348)Gtg>Ttg	p.V116L	PSMA5_ENST00000538610.1_Missense_Mutation_p.V58L|PSMA5_ENST00000490870.1_5'UTR	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 5	116					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AGATTGGACACAGCTTGGGTC	0.438																																						ENST00000271308.4																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(346-348)Gtg>Ttg		proteasome (prosome, macropain) subunit, alpha type, 5							202.0	147.0	166.0					1																	109954752		2203	4300	6503	SO:0001583	missense	5686				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr1:109954752C>A	X61970	CCDS799.1, CCDS55619.1	1p13	2008-02-05			ENSG00000143106	ENSG00000143106		"""Proteasome (prosome, macropain) subunits"""	9534	protein-coding gene	gene with protein product		176844				1888762	Standard	NM_002790		Approved	ZETA	uc001dxn.3	P28066	OTTHUMG00000012001	ENST00000271308.4:c.346G>T	1.37:g.109954752C>A	ENSP00000271308:p.Val116Leu					PSMA5_ENST00000490870.1_5'UTR|PSMA5_ENST00000538610.1_Missense_Mutation_p.V58L	p.V116L	NM_002790.3	NP_002781.2	P28066	PSA5_HUMAN		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)	5	366	-		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	116					B2R8F6|B4E2V4|Q3T1C1|Q6IBF7	Missense_Mutation	SNP	ENST00000271308.4	37	c.346G>T	CCDS799.1	.	.	.	.	.	.	.	.	.	.	c	18.40	3.616817	0.66672	.	.	ENSG00000143106	ENST00000538610;ENST00000271308	T;T	0.38887	2.01;1.11	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.19485	0.0468	N	0.25957	0.775	0.80722	D	1	B	0.18461	0.028	B	0.17722	0.019	T	0.05370	-1.0889	9	.	.	.	-5.4394	18.9585	0.92670	0.0:1.0:0.0:0.0	.	116	P28066	PSA5_HUMAN	L	58;116	ENSP00000440618:V58L;ENSP00000271308:V116L	.	V	-	1	0	PSMA5	109756275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.795000	0.85887	2.772000	0.95346	0.651000	0.88453	GTG		0.438	PSMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033192.2	NM_002790		8	53	1	0	2.17888e-05	1	2.34793e-05	8	53				
EEF1DP3	196549	broad.mit.edu	37	13	32527206	32527206	+	RNA	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr13:32527206C>T	ENST00000428783.1	+	0	906							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										CAGCAGTACGCGGAGAAGAAG	0.602																																						ENST00000428783.1																			0																																																			196549							g.chr13:32527206C>T			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527206C>T														0	906	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.602	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		6	28	0	0	0	1	0	6	28				
RASGRF2	5924	broad.mit.edu	37	5	80409621	80409621	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:80409621A>G	ENST00000265080.4	+	15	2419	c.2352A>G	c.(2350-2352)atA>atG	p.I784M	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	784					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTGGTCAGATACCACTGGATC	0.542																																						ENST00000265080.4																			0				biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2350-2352)atA>atG		Ras protein-specific guanine nucleotide-releasing factor 2							82.0	83.0	83.0					5																	80409621		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80409621A>G	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2352A>G	5.37:g.80409621A>G	ENSP00000265080:p.Ile784Met					CTD-2193P3.2_ENST00000508993.1_RNA	p.I784M	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	15	2419	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	784					B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2352A>G	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	A	6.004	0.369107	0.11352	.	.	ENSG00000113319	ENST00000265080	T	0.74421	-0.84	4.94	-3.98	0.04082	Ras guanine nucleotide exchange factor, domain (1);	1.174510	0.06254	N	0.692686	T	0.48466	0.1501	N	0.08118	0	0.09310	N	0.999998	B	0.19445	0.036	B	0.19946	0.027	T	0.24728	-1.0152	10	0.46703	T	0.11	.	2.0367	0.03541	0.4833:0.122:0.2771:0.1176	.	784	O14827	RGRF2_HUMAN	M	784	ENSP00000265080:I784M	ENSP00000265080:I784M	I	+	3	3	RASGRF2	80445377	0.764000	0.28473	0.098000	0.21074	0.044000	0.14063	0.155000	0.16362	-1.081000	0.03105	-0.396000	0.06452	ATA		0.542	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		10	56	0	0	0	1	0	10	56				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	44	0	0	0	1	0	4	44				
IL19	29949	broad.mit.edu	37	1	207010044	207010044	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:207010044A>G	ENST00000270218.6	+	3	976	c.37A>G	c.(37-39)Aca>Gca	p.T13A	IL19_ENST00000340758.2_Missense_Mutation_p.T51A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	13					apoptotic process (GO:0006915)|immune response (GO:0006955)|interleukin-6 biosynthetic process (GO:0042226)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|reactive oxygen species metabolic process (GO:0072593)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			GCTCCTGGGTACAATACTGAT	0.458																																						ENST00000270218.6																			0				central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7						c.(37-39)Aca>Gca		interleukin 19							167.0	157.0	161.0					1																	207010044		2203	4300	6503	SO:0001583	missense	29949				apoptosis|immune response|signal transduction	extracellular space	cytokine activity	g.chr1:207010044A>G	AF192498	CCDS1468.1, CCDS1469.1	1q32.2	2008-07-18			ENSG00000142224	ENSG00000142224		"""Interleukins and interleukin receptors"""	5990	protein-coding gene	gene with protein product	"""melanoma differentiation associated protein-like protein"""	605687				11196675	Standard	NM_153758		Approved	IL-19, MDA1, ZMDA1, IL-10C, NG.1	uc001heo.3	Q9UHD0	OTTHUMG00000036387	ENST00000270218.6:c.37A>G	1.37:g.207010044A>G	ENSP00000270218:p.Thr13Ala					IL19_ENST00000340758.2_Missense_Mutation_p.T51A	p.T13A	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.211)		3	976	+			13					B6VEV9|Q5VUT3|Q96QR4|Q9NUA0	Missense_Mutation	SNP	ENST00000270218.6	37	c.37A>G	CCDS1469.1	.	.	.	.	.	.	.	.	.	.	A	0.863	-0.734502	0.03111	.	.	ENSG00000142224	ENST00000340758;ENST00000270218	T;T	0.31769	1.48;1.54	5.4	-7.0	0.01599	.	1.454170	0.03666	N	0.243229	T	0.09905	0.0243	N	0.03050	-0.425	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.38908	-0.9639	10	0.02654	T	1	.	8.6415	0.33981	0.3136:0.0:0.5752:0.1112	.	13;13;51	B6VEV9;Q9UHD0;Q5VUT3	.;IL19_HUMAN;.	A	51;13	ENSP00000343000:T51A;ENSP00000270218:T13A	ENSP00000270218:T13A	T	+	1	0	IL19	205076667	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.369000	0.02578	-1.051000	0.03226	-0.366000	0.07423	ACA		0.458	IL19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088567.2	NM_153758		26	84	0	0	0	1	0	26	84				
CDRT1	374286	broad.mit.edu	37	17	15496704	15496704	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:15496704T>C	ENST00000395906.3	-	11	1952	c.1953A>G	c.(1951-1953)atA>atG	p.I651M	CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron|CDRT1_ENST00000354433.3_Missense_Mutation_p.I151M	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	651										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		CATTGGCTTTTATCACCTTCA	0.498																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(1951-1953)atA>atG		CMT1A duplicated region transcript 1							268.0	272.0	271.0					17																	15496704		2203	4300	6503	SO:0001583	missense	374286							g.chr17:15496704T>C	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1953A>G	17.37:g.15496704T>C	ENSP00000379242:p.Ile651Met					CDRT1_ENST00000354433.3_Missense_Mutation_p.I151M|CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron	p.I651M	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	11	1952	-			651					O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.1953A>G	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	t	3.484	-0.105322	0.06967	.	.	ENSG00000241322;ENSG00000251537;ENSG00000251537	ENST00000354433;ENST00000261644;ENST00000395906	T;T	0.19938	2.11;2.11	4.44	2.28	0.28536	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.	.	.	.	T	0.07638	0.0192	N	0.03000	-0.44	0.80722	D	1	B	0.15141	0.012	B	0.08055	0.003	T	0.18461	-1.0336	9	0.41790	T	0.15	.	4.4916	0.11817	0.0:0.5663:0.2666:0.1672	.	651	O95170	CDRT1_HUMAN	M	151;681;651	ENSP00000346416:I151M;ENSP00000379242:I651M	ENSP00000346416:I151M	I	-	3	3	CDRT1;RP11-385D13.1	15437429	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.876000	0.39588	0.289000	0.22422	0.528000	0.53228	ATA		0.498	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		28	296	0	0	0	1	0	28	296				
WDR66	144406	broad.mit.edu	37	12	122361712	122361712	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:122361712G>A	ENST00000288912.4	+	3	1417	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	WDR66_ENST00000397454.2_Missense_Mutation_p.R188Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	188							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAAACCGACCGGATGCCCCAA	0.478																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(562-564)cGg>cAg		WD repeat domain 66							104.0	101.0	102.0					12																	122361712		1869	4098	5967	SO:0001583	missense	144406						calcium ion binding	g.chr12:122361712G>A	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.563G>A	12.37:g.122361712G>A	ENSP00000288912:p.Arg188Gln					WDR66_ENST00000397454.2_Missense_Mutation_p.R188Q	p.R188Q	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	1417	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		188					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	c.563G>A	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	G	0.284	-0.984700	0.02180	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.15952	2.38;2.38	4.43	-1.25	0.09405	.	3.743330	0.00887	N	0.002196	T	0.05181	0.0138	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33599	-0.9862	10	0.02654	T	1	.	4.7943	0.13265	0.6731:0.0:0.1839:0.1429	.	188	Q8TBY9	WDR66_HUMAN	Q	188	ENSP00000288912:R188Q;ENSP00000380595:R188Q	ENSP00000288912:R188Q	R	+	2	0	WDR66	120846095	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.347000	0.07750	-0.287000	0.09064	-1.799000	0.00621	CGG		0.478	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		18	73	0	0	0	1	0	18	73				
GPATCH8	23131	broad.mit.edu	37	17	42476499	42476499	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:42476499C>T	ENST00000591680.1	-	8	2976	c.2946G>A	c.(2944-2946)tgG>tgA	p.W982*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.W904*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	982	Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGCTCCGTTGCCAGCTGTGGG	0.637																																						ENST00000434000.1																			0				breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2710-2712)tgG>tgA		G patch domain containing 8							38.0	37.0	37.0					17																	42476499		2203	4300	6503	SO:0001587	stop_gained	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42476499C>T	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2946G>A	17.37:g.42476499C>T	ENSP00000467556:p.Trp982*					GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.W982*	p.W904*			Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	9	2994	-		Prostate(33;0.0181)	982			Ser-rich.		B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	ENST00000591680.1	37	c.2712G>A	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	C	37	6.207279	0.97376	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-9.453	18.9211	0.92525	0.0:1.0:0.0:0.0	.	.	.	.	X	982;904	.	ENSP00000335486:W982X	W	-	3	0	GPATCH8	39832025	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.326000	0.59241	2.712000	0.92718	0.555000	0.69702	TGG		0.637	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		14	29	0	0	0	1	0	14	29				
CUBN	8029	broad.mit.edu	37	10	17113533	17113533	+	Missense_Mutation	SNP	T	T	A	rs386833775		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:17113533T>A	ENST00000377833.4	-	19	2582	c.2517A>T	c.(2515-2517)gaA>gaT	p.E839D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	839	CUB 4. {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)	TACAGGTTCTTTCTCCAGGAT	0.448																																						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.(2515-2517)gaA>gaT		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						83.0	83.0	83.0					10																	17113533		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.chr10:17113533T>A	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.2517A>T	10.37:g.17113533T>A	ENSP00000367064:p.Glu839Asp						p.E839D	NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN			19	2582	-			839			CUB 4.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.2517A>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	T	8.911	0.958696	0.18507	.	.	ENSG00000107611	ENST00000377833	T	0.32988	1.43	5.47	0.0841	0.14436	CUB (5);	0.373966	0.19342	N	0.116633	T	0.11665	0.0284	N	0.11313	0.125	0.21499	N	0.999669	B	0.31026	0.304	B	0.30029	0.11	T	0.28808	-1.0032	10	0.13853	T	0.58	.	4.915	0.13842	0.0:0.2165:0.2764:0.5072	.	839	O60494	CUBN_HUMAN	D	839	ENSP00000367064:E839D	ENSP00000367064:E839D	E	-	3	2	CUBN	17153539	1.000000	0.71417	0.278000	0.24718	0.374000	0.29953	0.445000	0.21677	0.056000	0.16144	0.411000	0.27672	GAA		0.448	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		22	38	0	0	0	1	0	22	38				
BEND4	389206	broad.mit.edu	37	4	42122294	42122294	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:42122294C>T	ENST00000502486.1	-	5	1743	c.1164G>A	c.(1162-1164)ttG>ttA	p.L388L	BEND4_ENST00000504360.1_Silent_p.L384L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	388										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						GATAGTTGTTCAACAGCTGCT	0.453																																						ENST00000502486.1																			0				NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(1162-1164)ttG>ttA		BEN domain containing 4							128.0	127.0	127.0					4																	42122294		1951	4140	6091	SO:0001819	synonymous_variant	389206							g.chr4:42122294C>T	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1164G>A	4.37:g.42122294C>T						BEND4_ENST00000504360.1_Silent_p.L384L	p.L388L	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN			5	1743	-			388					A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	c.1164G>A	CCDS47048.1																																																																																				0.453	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		11	99	0	0	0	1	0	11	99				
WWC1	23286	broad.mit.edu	37	5	167891965	167891965	+	Missense_Mutation	SNP	C	C	T	rs138503526		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:167891965C>T	ENST00000265293.4	+	21	3650	c.3148C>T	c.(3148-3150)Cgg>Tgg	p.R1050W	WWC1_ENST00000521089.1_Missense_Mutation_p.R1056W|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1050	Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GCTGGAGAAGCGGGTGAGTTC	0.652																																						ENST00000265293.4																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(3148-3150)Cgg>Tgg		WW and C2 domain containing 1							50.0	47.0	48.0					5																	167891965		2203	4300	6503	SO:0001583	missense	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167891965C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.3148C>T	5.37:g.167891965C>T	ENSP00000265293:p.Arg1050Trp					WWC1_ENST00000521089.1_Missense_Mutation_p.R1056W|WWC1_ENST00000522140.1_3'UTR	p.R1050W	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	21	3650	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	1050			Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	c.3148C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.266654|4.266654	0.80358|0.80358	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000393895;ENST00000524228|ENST00000265293;ENST00000521089;ENST00000524038	.|T;T;T	.|0.50813	.|0.73;0.73;0.73	5.13|5.13	3.01|3.01	0.34805|0.34805	.|.	.|0.467249	.|0.21605	.|N	.|0.071890	T|T	0.46229|0.46229	0.1382|0.1382	L|L	0.34521|0.34521	1.04|1.04	0.28545|0.28545	N|N	0.911916|0.911916	.|D;D	.|0.60160	.|0.987;0.978	.|P;B	.|0.50049	.|0.629;0.306	T|T	0.48779|0.48779	-0.9005|-0.9005	5|10	.|0.87932	.|D	.|0	.|.	14.4175|14.4175	0.67160|0.67160	0.3265:0.6735:0.0:0.0|0.3265:0.6735:0.0:0.0	.|.	.|1056;1050	.|Q8IX03-2;Q8IX03	.|.;KIBRA_HUMAN	V|W	1017;826|1050;1056;382	.|ENSP00000265293:R1050W;ENSP00000427772:R1056W;ENSP00000428084:R382W	.|ENSP00000265293:R1050W	A|R	+|+	2|1	0|2	WWC1|WWC1	167824543|167824543	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.953000|0.953000	0.61014|0.61014	4.113000|4.113000	0.57851|0.57851	1.070000|1.070000	0.40811|0.40811	0.555000|0.555000	0.69702|0.69702	GCG|CGG		0.652	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		5	27	0	0	0	1	0	5	27				
SCN7A	6332	broad.mit.edu	37	2	167322318	167322318	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:167322318T>C	ENST00000409855.1	-	7	970	c.844A>G	c.(844-846)Aga>Gga	p.R282G		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	282					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TTTCCAGTTCTGTTGTGCAGG	0.388																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(844-846)Aga>Gga		sodium channel, voltage-gated, type VII, alpha subunit							118.0	112.0	114.0					2																	167322318		1828	4087	5915	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167322318T>C	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.844A>G	2.37:g.167322318T>C	ENSP00000386796:p.Arg282Gly						p.R282G	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			7	970	-			282						Missense_Mutation	SNP	ENST00000409855.1	37	c.844A>G	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	T	4.580	0.107666	0.08780	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98090	-4.06;-4.09;-4.71	4.95	2.43	0.29744	Ion transport (1);	0.605810	0.14992	N	0.286640	D	0.92635	0.7660	N	0.25485	0.75	0.09310	N	1	B	0.10296	0.003	B	0.12156	0.007	T	0.82936	-0.0210	10	0.16896	T	0.51	.	5.023	0.14370	0.0:0.1632:0.1561:0.6808	.	282	Q01118	SCN7A_HUMAN	G	282	ENSP00000386796:R282G;ENSP00000413699:R282G;ENSP00000403846:R282G	ENSP00000259060:R282G	R	-	1	2	SCN7A	167030564	0.836000	0.29430	0.764000	0.31436	0.711000	0.40976	0.549000	0.23329	0.405000	0.25532	0.477000	0.44152	AGA		0.388	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			4	59	0	0	0	1	0	4	59				
ADAM21P1	145241	broad.mit.edu	37	14	70712737	70712737	+	RNA	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:70712737G>T	ENST00000530196.1	-	0	1781					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		GGTATGTTGTGCCATTTATAC	0.383																																						ENST00000530196.1																			0																																																			145241							g.chr14:70712737G>T			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712737G>T								NR_003951.1						0	1781	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.383	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	113	1	0	0.00198382	1	0.00208384	5	113				
OTOP1	133060	broad.mit.edu	37	4	4199805	4199805	+	Silent	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:4199805A>G	ENST00000296358.4	-	5	780	c.756T>C	c.(754-756)tgT>tgC	p.C252C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	252					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCGTGCAGTTACACTGCGGTG	0.522																																						ENST00000296358.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(754-756)tgT>tgC		otopetrin 1							55.0	45.0	49.0					4																	4199805		2203	4300	6503	SO:0001819	synonymous_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4199805A>G	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.756T>C	4.37:g.4199805A>G							p.C252C	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	5	780	-			252					A1L476	Silent	SNP	ENST00000296358.4	37	c.756T>C	CCDS3372.1																																																																																				0.522	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		10	35	0	0	0	1	0	10	35				
TEKT4	150483	broad.mit.edu	37	2	95537349	95537349	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:95537349G>A	ENST00000295201.4	+	1	162	c.25G>A	c.(25-27)Gag>Aag	p.E9K	TEKT4_ENST00000427593.2_Missense_Mutation_p.E9K|AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	9					cell projection organization (GO:0030030)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|motile cilium (GO:0031514)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCCGCCCTGCGAGCTGCCCTG	0.682																																						ENST00000295201.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						c.(25-27)Gag>Aag		tektin 4							12.0	14.0	13.0					2																	95537349		2153	4218	6371	SO:0001583	missense	150483				cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr2:95537349G>A	AK097438	CCDS2005.1	2q11.2	2008-02-05			ENSG00000163060	ENSG00000163060			31012	protein-coding gene	gene with protein product							Standard	XM_005263876		Approved	MGC27019	uc002stw.1	Q8WW24	OTTHUMG00000130396	ENST00000295201.4:c.25G>A	2.37:g.95537349G>A	ENSP00000295201:p.Glu9Lys					AC097374.2_ENST00000568768.1_RNA|TEKT4_ENST00000427593.2_Missense_Mutation_p.E9K	p.E9K	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN			1	162	+			9						Missense_Mutation	SNP	ENST00000295201.4	37	c.25G>A	CCDS2005.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108130	0.37242	.	.	ENSG00000163060	ENST00000295201;ENST00000427593	T;T	0.10763	3.92;2.84	1.85	-0.549	0.11829	.	1.015540	0.07850	N	0.964412	T	0.04272	0.0118	N	0.08118	0	0.09310	N	1	B	0.28880	0.226	B	0.20184	0.028	T	0.44221	-0.9342	10	0.19590	T	0.45	-0.5828	4.3921	0.11346	0.1615:0.2314:0.6072:0.0	.	9	Q8WW24	TEKT4_HUMAN	K	9	ENSP00000295201:E9K;ENSP00000407596:E9K	ENSP00000295201:E9K	E	+	1	0	TEKT4	94901076	0.040000	0.19996	0.152000	0.22495	0.120000	0.20174	0.070000	0.14573	-0.367000	0.08052	-0.375000	0.07067	GAG		0.682	TEKT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252777.1	NM_144705		4	19	0	0	0	1	0	4	19				
VCAN	1462	broad.mit.edu	37	5	82834812	82834812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:82834812C>A	ENST00000265077.3	+	8	6555	c.5990C>A	c.(5989-5991)tCa>tAa	p.S1997*	VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S1010*|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1997	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	GTCAGCACTTCAGCCTTCCCC	0.517																																						ENST00000265077.3																			0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(5989-5991)tCa>tAa		versican							103.0	95.0	98.0					5																	82834812		2203	4300	6503	SO:0001587	stop_gained	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82834812C>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5990C>A	5.37:g.82834812C>A	ENSP00000265077:p.Ser1997*					VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000343200.5_Nonsense_Mutation_p.S1010*|VCAN_ENST00000342785.4_Intron	p.S1997*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	6555	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	1997			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	c.5990C>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	C	48	14.111817	0.99780	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	5.97	5.09	0.68999	.	0.704804	0.12964	N	0.424745	.	.	.	.	.	.	0.49582	D	0.999802	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.5869	0.56423	0.0:0.9231:0.0:0.0769	.	.	.	.	X	1997;1010;1010	.	ENSP00000265077:S1997X	S	+	2	0	VCAN	82870568	0.095000	0.21747	0.954000	0.39281	0.220000	0.24768	3.239000	0.51360	2.835000	0.97688	0.591000	0.81541	TCA		0.517	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	NM_004385		9	41	1	0	3.09899e-07	1	3.52157e-07	9	41				
CHPF2	54480	broad.mit.edu	37	7	150932496	150932496	+	Missense_Mutation	SNP	G	G	T	rs143762414		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:150932496G>T	ENST00000035307.2	+	2	2139	c.626G>T	c.(625-627)cGg>cTg	p.R209L	CHPF2_ENST00000495645.1_Missense_Mutation_p.R201L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	209					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TACTTAGGCCGGGCAGAGGAG	0.602																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(625-627)cGg>cTg		chondroitin polymerizing factor 2							92.0	92.0	92.0					7																	150932496		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150932496G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.626G>T	7.37:g.150932496G>T	ENSP00000035307:p.Arg209Leu					CHPF2_ENST00000495645.1_Missense_Mutation_p.R201L	p.R209L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			2	2139	+			209					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.626G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926440	0.52759	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.28895	1.59;1.59	5.52	4.63	0.57726	.	0.054076	0.85682	D	0.000000	T	0.33411	0.0862	L	0.57536	1.79	0.53005	D	0.999965	B;B	0.23990	0.025;0.095	B;B	0.33339	0.058;0.162	T	0.08269	-1.0730	9	.	.	.	-16.1094	12.5615	0.56283	0.0805:0.0:0.9195:0.0	.	209;201	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	L	201;209;209	ENSP00000418914:R201L;ENSP00000035307:R209L	.	R	+	2	0	CHPF2	150563429	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	5.801000	0.69115	1.304000	0.44892	0.655000	0.94253	CGG		0.602	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		4	109	1	0	0.184627	1	0.184627	4	109				
SEMA4G	57715	broad.mit.edu	37	10	102738956	102738956	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:102738956G>C	ENST00000370250.4	+	8	1284	c.911G>C	c.(910-912)gGg>gCg	p.G304A	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G304A|SEMA4G_ENST00000210633.3_Missense_Mutation_p.G304A	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	304	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		ACACTGCGTGGGGTCTGCAGC	0.557																																						ENST00000210633.3																			0				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(910-912)gGg>gCg		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G							113.0	93.0	100.0					10																	102738956		2203	4300	6503	SO:0001583	missense	57715				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr10:102738956G>C	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.911G>C	10.37:g.102738956G>C	ENSP00000359270:p.Gly304Ala					SEMA4G_ENST00000517724.1_Missense_Mutation_p.G304A|MRPL43_ENST00000370242.4_3'UTR|MRPL43_ENST00000318325.2_3'UTR|SEMA4G_ENST00000370250.4_Missense_Mutation_p.G304A|SEMA4G_ENST00000519756.1_3'UTR|MRPL43_ENST00000370241.3_Intron	p.G304A			Q9NTN9	SEM4G_HUMAN		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)	8	989	+		Colorectal(252;0.234)	304			Sema.		A1A5C6|A6NJY8|Q58EY1|Q9HCF3	Missense_Mutation	SNP	ENST00000370250.4	37	c.911G>C		.	.	.	.	.	.	.	.	.	.	g	11.57	1.677427	0.29783	.	.	ENSG00000095539	ENST00000519649;ENST00000457585;ENST00000370250;ENST00000517724;ENST00000210633	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.82	-1.19	0.09585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.686544	0.15805	N	0.243792	T	0.13543	0.0328	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.15484	0.006;0.013;0.001	T	0.21621	-1.0240	10	0.30854	T	0.27	.	13.9974	0.64411	0.0645:0.5813:0.3542:0.0	.	304;304;304	Q9NTN9;A1A5C6;Q9NTN9-2	SEM4G_HUMAN;.;.	A	304	ENSP00000428896:G304A;ENSP00000359270:G304A;ENSP00000430175:G304A;ENSP00000210633:G304A	ENSP00000210633:G304A	G	+	2	0	SEMA4G	102728946	0.000000	0.05858	0.009000	0.14445	0.983000	0.72400	0.318000	0.19504	-0.152000	0.11156	0.479000	0.44913	GGG		0.557	SEMA4G-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049920.2			7	90	0	0	0	1	0	7	90				
IL2	3558	broad.mit.edu	37	4	123377470	123377470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:123377470C>A	ENST00000226730.4	-	1	410	c.126G>T	c.(124-126)caG>caT	p.Q42H		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	42					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|immune response (GO:0006955)|natural killer cell activation (GO:0030101)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of heart contraction (GO:0045822)|negative regulation of inflammatory response (GO:0050728)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of T cell homeostatic proliferation (GO:0046013)|T cell differentiation (GO:0030217)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|cytokine activity (GO:0005125)|glycosphingolipid binding (GO:0043208)|growth factor activity (GO:0008083)|interleukin-2 receptor binding (GO:0005134)|kinase activator activity (GO:0019209)			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)	Pseudoephedrine(DB00852)	TCAAAATCATCTGTAAATCCA	0.323			T	TNFRSF17	intestinal T-cell lymphoma																																	ENST00000226730.4				Dom	yes		4	4q26-q27	3558	T	interleukin 2			L	TNFRSF17		intestinal T-cell lymphoma		0				endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13						c.(124-126)caG>caT		interleukin 2							109.0	102.0	104.0					4																	123377470		2203	4300	6503	SO:0001583	missense	3558				anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity	g.chr4:123377470C>A	U25676	CCDS3726.1	4q26-q27	2011-07-14			ENSG00000109471	ENSG00000109471		"""Interleukins and interleukin receptors"""	6001	protein-coding gene	gene with protein product	"""T cell growth factor"""	147680				3260003	Standard	NM_000586		Approved	IL-2, TCGF	uc003ier.3	P60568	OTTHUMG00000133075	ENST00000226730.4:c.126G>T	4.37:g.123377470C>A	ENSP00000226730:p.Gln42His						p.Q42H	NM_000586.3	NP_000577.2	P60568	IL2_HUMAN		LUSC - Lung squamous cell carcinoma(721;0.185)	1	410	-			42					P01585	Missense_Mutation	SNP	ENST00000226730.4	37	c.126G>T	CCDS3726.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191218	0.58017	.	.	ENSG00000109471	ENST00000226730	.	.	.	6.17	3.46	0.39613	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.833121	0.10599	N	0.655830	T	0.41259	0.1151	L	0.50333	1.59	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.32455	-0.9906	9	0.44086	T	0.13	0.0	7.5518	0.27802	0.2907:0.6329:0.0:0.0764	.	42	P60568	IL2_HUMAN	H	42	.	ENSP00000226730:Q42H	Q	-	3	2	IL2	123596920	0.000000	0.05858	0.019000	0.16419	0.980000	0.70556	0.013000	0.13310	0.903000	0.36546	0.655000	0.94253	CAG		0.323	IL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256715.2			4	17	1	0	0.00024832	1	0.000263051	4	17				
OR9G1	390174	broad.mit.edu	37	11	56467999	56467999	+	Missense_Mutation	SNP	G	G	A	rs202001195	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:56467999G>A	ENST00000312153.1	+	1	136	c.136G>A	c.(136-138)Gtg>Atg	p.V46M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CACCCTCATCGTGTTGATCTG	0.502													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17905	0.0		0.0	False		,,,				2504	0.0					ENST00000312153.1																			0				breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(136-138)Gtg>Atg		olfactory receptor, family 9, subfamily G, member 1		G	MET/VAL	0,4402		0,0,2201	189.0	166.0	174.0		136	-1.5	0.0	11		174	3,8589	2.2+/-6.3	0,3,4293	no	missense	OR9G1	NM_001005213.1	21	0,3,6494	AA,AG,GG		0.0349,0.0,0.0231	benign	46/306	56467999	3,12991	2201	4296	6497	SO:0001583	missense	390174							g.chr11:56467999G>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.136G>A	11.37:g.56467999G>A	ENSP00000309012:p.Val46Met						p.V46M	NM_001005213.1	NP_001005213.1					1	136	+								Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.136G>A	CCDS31536.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	0.872	-0.731600	0.03135	0.0	3.49E-4	ENSG00000174914	ENST00000312153	T	0.01113	5.32	4.52	-1.48	0.08745	GPCR, rhodopsin-like superfamily (1);	0.808613	0.10782	N	0.634795	T	0.01029	0.0034	L	0.31664	0.95	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44190	-0.9344	10	0.33141	T	0.24	-3.5885	6.937	0.24472	0.3569:0.0:0.5339:0.1092	.	46	Q8NH87	OR9G1_HUMAN	M	46	ENSP00000309012:V46M	ENSP00000309012:V46M	V	+	1	0	OR9G1	56224575	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-3.917000	0.00335	-0.674000	0.05253	-2.051000	0.00406	GTG		0.502	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		9	66	0	0	0	1	0	9	66				
IGHV3-9	28451	broad.mit.edu	37	14	106552398	106552398	+	RNA	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:106552398C>G	ENST00000390600.2	-	0	320									immunoglobulin heavy variable 3-9																		TTCACAGAGTCCGCATAGCCT	0.517																																						ENST00000390600.2																			0																				128.0	99.0	109.0					14																	106552398		1857	3449	5306			28451							g.chr14:106552398C>G	M99651		14q32.33	2012-02-08			ENSG00000211940			"""Immunoglobulins / IGH locus"""	5628	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152291		14.37:g.106552398C>G														0	320	-									RNA	SNP	ENST00000390600.2	37																																																																																						0.517	IGHV3-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325679.1	NG_001019		15	160	0	0	0	1	0	15	160				
MED1	5469	broad.mit.edu	37	17	37565024	37565024	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:37565024C>T	ENST00000300651.6	-	17	3673	c.3450G>A	c.(3448-3450)ggG>ggA	p.G1150G	CTB-131K11.1_ENST00000582842.1_RNA|MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTGGCTTCCCCCCAGACTGGG	0.473										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6																			0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(3448-3450)ggG>ggA		mediator complex subunit 1							69.0	69.0	69.0					17																	37565024		2203	4300	6503	SO:0001819	synonymous_variant	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565024C>T	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.3450G>A	17.37:g.37565024C>T		HNSCC(31;0.082)				MED1_ENST00000394287.3_Intron	p.G1150G	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3673	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	1150			Ser-rich.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Silent	SNP	ENST00000300651.6	37	c.3450G>A	CCDS11336.1																																																																																				0.473	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774		3	29	0	0	0	1	0	3	29				
TENM1	10178	broad.mit.edu	37	X	123554573	123554573	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:123554573G>A	ENST00000371130.3	-	24	4612	c.4549C>T	c.(4549-4551)Cga>Tga	p.R1517*	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Nonsense_Mutation_p.R1524*	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1517					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTACGAATTCGAACATTTCCG	0.483																																						ENST00000422452.2																			0											c.(4570-4572)Cga>Tga		teneurin transmembrane protein 1							136.0	112.0	120.0					X																	123554573		2203	4300	6503	SO:0001587	stop_gained	10178							g.chrX:123554573G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4549C>T	X.37:g.123554573G>A	ENSP00000360171:p.Arg1517*					TENM1_ENST00000371130.3_Nonsense_Mutation_p.R1517*|STAG2_ENST00000469481.1_Intron	p.R1524*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					25	4633	-								B2RTR5|Q5JZ17	Nonsense_Mutation	SNP	ENST00000371130.3	37	c.4570C>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	44	10.589778	0.99433	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	.	.	.	5.49	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.539	0.56158	0.0:0.0:0.6978:0.3022	.	.	.	.	X	1517;1524	.	ENSP00000360171:R1517X	R	-	1	2	ODZ1	123382254	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.624000	0.67764	1.043000	0.40175	0.600000	0.82982	CGA		0.483	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		28	31	0	0	0	1	0	28	31				
NFKBID	84807	broad.mit.edu	37	19	36380799	36380799	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:36380799G>A	ENST00000396901.1	-	11	1454	c.881C>T	c.(880-882)cCt>cTt	p.P294L	NFKBID_ENST00000340950.2_Missense_Mutation_p.P131L|NFKBID_ENST00000352614.2_Missense_Mutation_p.P446L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P294L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	294					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						TACCCCCTCAGGGCCCGGCCC	0.672																																						ENST00000396901.1																			0				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						c.(880-882)cCt>cTt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta							36.0	43.0	40.0					19																	36380799		1963	4115	6078	SO:0001583	missense	84807				inflammatory response	nucleus		g.chr19:36380799G>A	AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.881C>T	19.37:g.36380799G>A	ENSP00000380109:p.Pro294Leu					NFKBID_ENST00000352614.2_Missense_Mutation_p.P446L|NFKBID_ENST00000340950.2_Missense_Mutation_p.P131L|NFKBID_ENST00000606253.1_Missense_Mutation_p.P294L	p.P294L	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN			11	1454	-			294					Q8NI39|Q9BRG9	Missense_Mutation	SNP	ENST00000396901.1	37	c.881C>T	CCDS42552.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281310	0.59758	.	.	ENSG00000167604	ENST00000352614;ENST00000396901;ENST00000340950	T;T;T	0.55588	0.51;1.18;1.18	3.81	3.81	0.43845	.	0.268741	0.29838	N	0.011064	T	0.28499	0.0705	N	0.08118	0	0.43385	D	0.995492	B;B;P	0.35363	0.358;0.231;0.497	B;B;B	0.33254	0.154;0.054;0.16	T	0.12889	-1.0530	10	0.10377	T	0.69	-11.9275	13.5639	0.61806	0.0:0.0:1.0:0.0	.	446;294;131	Q8NI38-2;Q8NI38;Q8NI38-3	.;IKBD_HUMAN;.	L	446;294;131	ENSP00000252985:P446L;ENSP00000380109:P294L;ENSP00000343093:P131L	ENSP00000343093:P131L	P	-	2	0	NFKBID	41072639	1.000000	0.71417	0.984000	0.44739	0.734000	0.41952	3.831000	0.55776	2.117000	0.64856	0.305000	0.20034	CCT		0.672	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452927.3	NM_032721		9	104	0	0	0	1	0	9	104				
MLLT4	4301	broad.mit.edu	37	6	168352535	168352535	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:168352535G>A	ENST00000447894.2	+	29	4480	c.4480G>A	c.(4480-4482)Gac>Aac	p.D1494N	MLLT4_ENST00000366806.2_Missense_Mutation_p.D1494N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1477N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1494N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1494N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1501N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1493N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1494					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGAGCGCAGAGACTTGCAGTA	0.602			T	MLL	AL																																	ENST00000366806.2				Dom	yes		6	6q27	4301	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""			L	MLL		AL		0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(4480-4482)Gac>Aac		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4							48.0	53.0	51.0					6																	168352535		2203	4300	6503	SO:0001583	missense	4301				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding	g.chr6:168352535G>A	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4480G>A	6.37:g.168352535G>A	ENSP00000404595:p.Asp1494Asn					MLLT4_ENST00000351017.4_Missense_Mutation_p.D1501N|MLLT4_ENST00000344191.4_Missense_Mutation_p.D1494N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1494N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1477N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1494N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1493N	p.D1494N			P55196	AFAD_HUMAN		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)	30	4622	+		Breast(66;1.07e-05)|Ovarian(120;0.024)	1494					O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37	c.4480G>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.745234	0.89663	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04502	3.83;3.65;3.81;3.74;3.61;3.65;3.65	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.13114	0.0318	M	0.72479	2.2	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.999	D;D;D;D	0.91635	0.995;0.999;0.997;0.997	T	0.10268	-1.0637	10	0.26408	T	0.33	-38.9952	18.4497	0.90699	0.0:0.0:1.0:0.0	.	1494;1493;1494;1478	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	N	1494;1501;1494;1494;1477;1494;1493;1494	ENSP00000341118:D1494N;ENSP00000252692:D1501N;ENSP00000375956:D1494N;ENSP00000355771:D1494N;ENSP00000375960:D1477N;ENSP00000383623:D1493N;ENSP00000404595:D1494N	ENSP00000345834:D1494N	D	+	1	0	MLLT4	168095384	1.000000	0.71417	0.525000	0.27900	0.965000	0.64279	9.180000	0.94867	2.342000	0.79632	0.561000	0.74099	GAC		0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936		17	58	0	0	0	1	0	17	58				
DEFB129	140881	broad.mit.edu	37	20	210311	210311	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr20:210311G>A	ENST00000246105.4	+	2	482	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	151					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			TAACACCAAAGAAAGCAGAGA	0.507																																						ENST00000246105.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9						c.(451-453)Gaa>Aaa		defensin, beta 129							134.0	120.0	125.0					20																	210311		2203	4300	6503	SO:0001583	missense	140881				defense response to bacterium	extracellular region		g.chr20:210311G>A	AY358186	CCDS12992.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125903	ENSG00000125903		"""Defensins, beta"""	16218	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 87"""	C20orf87		11854508	Standard	NM_080831		Approved	bA530N10.3, DEFB-29	uc002wda.3	Q9H1M3	OTTHUMG00000031618	ENST00000246105.4:c.451G>A	20.37:g.210311G>A	ENSP00000246105:p.Glu151Lys						p.E151K	NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.122)		2	482	+		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	151					Q8NES7	Missense_Mutation	SNP	ENST00000246105.4	37	c.451G>A	CCDS12992.1	.	.	.	.	.	.	.	.	.	.	G	8.112	0.779054	0.16120	.	.	ENSG00000125903	ENST00000246105	T	0.41065	1.01	4.26	-6.53	0.01866	.	1.935630	0.02466	N	0.087085	T	0.26268	0.0641	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19582	-1.0301	10	0.38643	T	0.18	0.176	10.2291	0.43245	0.7098:0.1344:0.1559:0.0	.	151	Q9H1M3	DB129_HUMAN	K	151	ENSP00000246105:E151K	ENSP00000246105:E151K	E	+	1	0	DEFB129	158311	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.030000	0.03581	-1.375000	0.02129	-0.379000	0.06801	GAA		0.507	DEFB129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077430.2	NM_080831		22	48	0	0	0	1	0	22	48				
TIE1	7075	broad.mit.edu	37	1	43772899	43772899	+	Missense_Mutation	SNP	G	G	A	rs549585866		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:43772899G>A	ENST00000372476.3	+	5	806	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	TIE1_ENST00000538015.1_Missense_Mutation_p.E243K|TIE1_ENST00000441333.2_Missense_Mutation_p.E243K|TIE1_ENST00000433781.2_5'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	243	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCATGACGGCGAATGTGTATG	0.632																																						ENST00000372476.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(727-729)Gaa>Aaa		tyrosine kinase with immunoglobulin-like and EGF-like domains 1							61.0	57.0	58.0					1																	43772899		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43772899G>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.727G>A	1.37:g.43772899G>A	ENSP00000361554:p.Glu243Lys					TIE1_ENST00000441333.2_Missense_Mutation_p.E243K|TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000538015.1_Missense_Mutation_p.E243K	p.E243K	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN			5	806	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	243			EGF-like 1.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.727G>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974683	0.74360	.	.	ENSG00000066056	ENST00000372476;ENST00000441333;ENST00000538015	T;T;T	0.47528	0.84;1.68;1.42	5.36	5.36	0.76844	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.40640	N	0.001043	T	0.48466	0.1501	N	0.17312	0.475	0.80722	D	1	D;P;D;D	0.63880	0.993;0.852;0.966;0.993	P;B;P;P	0.55391	0.775;0.166;0.503;0.775	T	0.54761	-0.8245	10	0.72032	D	0.01	.	17.2494	0.87038	0.0:0.0:1.0:0.0	.	198;243;243;243	B4DTW8;B5A952;B5A950;P35590	.;.;.;TIE1_HUMAN	K	243	ENSP00000361554:E243K;ENSP00000401903:E243K;ENSP00000440063:E243K	ENSP00000361554:E243K	E	+	1	0	TIE1	43545486	1.000000	0.71417	0.999000	0.59377	0.052000	0.14988	7.125000	0.77193	2.509000	0.84616	0.561000	0.74099	GAA		0.632	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		4	66	0	0	0	1	0	4	66				
LCN15	389812	broad.mit.edu	37	9	139658429	139658429	+	Silent	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139658429T>C	ENST00000316144.5	-	2	153	c.129A>G	c.(127-129)gcA>gcG	p.A43A	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	43					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TGCAGTCAGATGCCATGGAGA	0.652																																						ENST00000316144.5																			0				endometrium(1)|lung(1)	2						c.(127-129)gcA>gcG		lipocalin 15							95.0	92.0	93.0					9																	139658429		2203	4300	6503	SO:0001819	synonymous_variant	389812				lipid metabolic process	extracellular region	binding|transporter activity	g.chr9:139658429T>C		CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.129A>G	9.37:g.139658429T>C						LCN15_ENST00000482511.1_5'UTR	p.A43A	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN			2	153	-			43						Silent	SNP	ENST00000316144.5	37	c.129A>G	CCDS7006.1																																																																																				0.652	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055114.2	NM_203347		4	116	0	0	0	1	0	4	116				
XPO6	23214	broad.mit.edu	37	16	28167759	28167759	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:28167759T>C	ENST00000304658.5	-	7	1233	c.733A>G	c.(733-735)Atc>Gtc	p.I245V	XPO6_ENST00000561488.1_5'Flank|XPO6_ENST00000565698.1_Missense_Mutation_p.I231V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	245					protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein transporter activity (GO:0008565)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AGGGAACAGATATACTCACTC	0.493																																						ENST00000304658.5																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						c.(733-735)Atc>Gtc		exportin 6							106.0	109.0	108.0					16																	28167759		1990	4172	6162	SO:0001583	missense	23214				protein export from nucleus		protein binding|protein transporter activity	g.chr16:28167759T>C	AY026388	CCDS42135.1, CCDS59266.1	16p11.2	2011-04-13	2003-03-11	2003-03-14		ENSG00000169180		"""Exportins"""	19733	protein-coding gene	gene with protein product		608411	"""RAN binding protein 20"""	RANBP20		14592989	Standard	NM_001270940		Approved	KIAA0370, FLJ22519	uc002dpa.2	Q96QU8		ENST00000304658.5:c.733A>G	16.37:g.28167759T>C	ENSP00000302790:p.Ile245Val					XPO6_ENST00000565698.1_Missense_Mutation_p.I231V	p.I245V	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN			7	1233	-			245					A1L3W4|D3DWF9|Q2YDX3|Q53G88|Q68G50|Q76N88|Q96CP8|Q9BT21	Missense_Mutation	SNP	ENST00000304658.5	37	c.733A>G	CCDS42135.1	.	.	.	.	.	.	.	.	.	.	T	6.345	0.431808	0.12045	.	.	ENSG00000169180	ENST00000304658	T	0.64085	-0.08	5.87	1.21	0.21127	Exportin-1/Importin-beta-like (1);Armadillo-type fold (1);	0.376772	0.33670	N	0.004669	T	0.34279	0.0892	N	0.04297	-0.235	0.26597	N	0.973084	B;B	0.12630	0.002;0.006	B;B	0.16289	0.005;0.015	T	0.17837	-1.0356	10	0.30078	T	0.28	-3.1471	8.6484	0.34020	0.0:0.4192:0.0:0.5808	.	245;245	B7ZM10;Q96QU8	.;XPO6_HUMAN	V	245	ENSP00000302790:I245V	ENSP00000302790:I245V	I	-	1	0	XPO6	28075260	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	1.049000	0.30392	0.001000	0.14605	0.533000	0.62120	ATC		0.493	XPO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433732.1	XM_055195		6	67	0	0	0	1	0	6	67				
ARSB	411	broad.mit.edu	37	5	78260265	78260265	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:78260265G>A	ENST00000264914.4	-	3	1200	c.664C>T	c.(664-666)Ctc>Ttc	p.L222F	ARSB_ENST00000565165.1_Missense_Mutation_p.L222F|ARSB_ENST00000396151.3_Missense_Mutation_p.L222F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	222					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		TTAGTTATGAGGGCTATAGCC	0.363																																					Melanoma(169;563 1968 25780 26156 52266)	ENST00000264914.4																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(664-666)Ctc>Ttc		arylsulfatase B							79.0	80.0	80.0					5																	78260265		2203	4300	6503	SO:0001583	missense	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78260265G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.664C>T	5.37:g.78260265G>A	ENSP00000264914:p.Leu222Phe					ARSB_ENST00000565165.1_Missense_Mutation_p.L222F|ARSB_ENST00000396151.3_Missense_Mutation_p.L222F	p.L222F	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	3	1200	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	222					B2RC20|Q8N322|Q9UDI9	Missense_Mutation	SNP	ENST00000264914.4	37	c.664C>T	CCDS4043.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666276	0.67814	.	.	ENSG00000113273	ENST00000264914;ENST00000396151	D;D	0.95377	-3.69;-3.69	5.36	4.48	0.54585	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.325503	0.33401	N	0.004946	D	0.91744	0.7389	N	0.05619	-0.005	0.44289	D	0.99715	P;B	0.52316	0.952;0.02	P;B	0.53224	0.721;0.04	D	0.89366	0.3671	10	0.11182	T	0.66	.	16.2967	0.82781	0.0:0.2479:0.7521:0.0	.	222;222	Q8N322;P15848	.;ARSB_HUMAN	F	222	ENSP00000264914:L222F;ENSP00000379455:L222F	ENSP00000264914:L222F	L	-	1	0	ARSB	78296021	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.019000	0.49635	1.362000	0.46000	0.650000	0.86243	CTC		0.363	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2	NM_000046		4	37	0	0	0	1	0	4	37				
LMAN1L	79748	broad.mit.edu	37	15	75116019	75116019	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:75116019C>T	ENST00000309664.5	+	12	1458	c.1319C>T	c.(1318-1320)cCg>cTg	p.P440L	CPLX3_ENST00000395018.4_5'Flank|LMAN1L_ENST00000379709.3_Missense_Mutation_p.P428L|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	440						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCGGGGCCCGGCGGTGAGG	0.627																																						ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1318-1320)cCg>cTg		lectin, mannose-binding, 1 like							41.0	43.0	42.0					15																	75116019		2197	4295	6492	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75116019C>T	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1319C>T	15.37:g.75116019C>T	ENSP00000310431:p.Pro440Leu					LMAN1L_ENST00000379709.3_Missense_Mutation_p.P428L|RP11-414J4.2_ENST00000564823.1_RNA	p.P440L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			12	1458	+			440					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1319C>T	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	C	6.485	0.457626	0.12342	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.34072	1.38;1.44	4.29	-1.35	0.09114	.	1.075440	0.07260	N	0.867418	T	0.18341	0.0440	N	0.22421	0.69	0.09310	N	1	B;B	0.14012	0.009;0.002	B;B	0.08055	0.003;0.001	T	0.26643	-1.0097	10	0.10111	T	0.7	.	3.4242	0.07405	0.1955:0.2945:0.0:0.51	.	428;440	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	L	440;428	ENSP00000310431:P440L;ENSP00000369031:P428L	ENSP00000310431:P440L	P	+	2	0	LMAN1L	72903072	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.852000	0.04308	-0.129000	0.11620	0.561000	0.74099	CCG		0.627	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			4	68	0	0	0	1	0	4	68				
ZBTB45	84878	broad.mit.edu	37	19	59028764	59028764	+	Missense_Mutation	SNP	C	C	T	rs200526639	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:59028764C>T	ENST00000594051.1	-	2	757	c.277G>A	c.(277-279)Gtt>Att	p.V93I	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V93I|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V93I			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	93	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		TGCGCCACAACGAGCGAACCG	0.622											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	4	0.000798722	0.0015	0.0	5008	,	,		15965	0.002		0.0	False		,,,				2504	0.0				NSCLC(164;1383 2017 5233 27540 46677)	ENST00000594051.1																			0				breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11						c.(277-279)Gtt>Att		zinc finger and BTB domain containing 45																																				SO:0001583	missense	84878				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:59028764C>T	AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.277G>A	19.37:g.59028764C>T	ENSP00000469089:p.Val93Ile		OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1035	ZBTB45_ENST00000354590.3_Missense_Mutation_p.V93I|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V93I	p.V93I			Q96K62	ZBT45_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)	2	757	-		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	93			BTB.			Missense_Mutation	SNP	ENST00000594051.1	37	c.277G>A	CCDS12984.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	c	9.352	1.065742	0.20067	.	.	ENSG00000119574	ENST00000354590	T	0.66815	-0.23	3.68	3.68	0.42216	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.52532	U	0.000068	T	0.60038	0.2238	L	0.47016	1.485	0.24745	N	0.993013	D	0.64830	0.994	P	0.47402	0.546	T	0.54029	-0.8354	10	0.38643	T	0.18	.	7.4301	0.27122	0.0:0.8761:0.0:0.1239	.	93	Q96K62	ZBT45_HUMAN	I	93	ENSP00000346603:V93I	ENSP00000346603:V93I	V	-	1	0	ZBTB45	63720576	0.000000	0.05858	0.058000	0.19502	0.094000	0.18550	0.183000	0.16919	1.793000	0.52555	0.305000	0.20034	GTT		0.622	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467067.1	NM_032792		7	61	0	0	0	1	0	7	61				
LRRTM1	347730	broad.mit.edu	37	2	80530771	80530771	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530771G>A	ENST00000295057.3	-	2	830	c.174C>T	c.(172-174)acC>acT	p.T58T	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.T58T|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	58	LRRNT.				exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T58T(2)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GGGGCGCCTCGGTGAGGTTGA	0.701										HNSCC(69;0.2)																												ENST00000295057.3																			2	Substitution - coding silent(2)	p.T58T(2)	lung(2)	NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(172-174)acC>acT		leucine rich repeat transmembrane neuronal 1							24.0	28.0	27.0					2																	80530771		2203	4299	6502	SO:0001819	synonymous_variant	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530771G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.174C>T	2.37:g.80530771G>A		HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Silent_p.T58T|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.T58T	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	830	-			58			LRRNT.		A8K397|D6W5K1|Q96DN1	Silent	SNP	ENST00000295057.3	37	c.174C>T	CCDS1966.1																																																																																				0.701	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		19	29	0	0	0	1	0	19	29				
ZMYND11	10771	broad.mit.edu	37	10	226065	226065	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:226065C>T	ENST00000397962.3	+	2	541	c.113C>T	c.(112-114)aCa>aTa	p.T38I	ZMYND11_ENST00000558098.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000509513.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000397959.3_Missense_Mutation_p.T38I|ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000403354.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000602682.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381607.4_5'UTR			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	38					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GACCGTATTACAAAGTAAGTA	0.363																																						ENST00000397962.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24						c.(112-114)aCa>aTa		zinc finger, MYND-type containing 11							98.0	90.0	92.0					10																	226065		1568	3582	5150	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:226065C>T	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.113C>T	10.37:g.226065C>T	ENSP00000381053:p.Thr38Ile					ZMYND11_ENST00000381602.4_5'UTR|ZMYND11_ENST00000602682.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381607.4_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000509513.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000309776.4_5'UTR|ZMYND11_ENST00000558098.2_Missense_Mutation_p.T38I|ZMYND11_ENST00000403354.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000381584.1_5'UTR|ZMYND11_ENST00000381604.4_5'UTR|ZMYND11_ENST00000381591.1_Missense_Mutation_p.T38I|ZMYND11_ENST00000397959.3_Missense_Mutation_p.T38I	p.T38I			Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	2	541	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	0					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.113C>T	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634778	0.67130	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000402736;ENST00000397955	.	.	.	5.75	5.75	0.90469	.	0.250025	0.32884	U	0.005535	T	0.47838	0.1467	N	0.19112	0.55	0.26720	N	0.970807	B;B;B;B;B;B;B	0.25351	0.124;0.012;0.03;0.03;0.1;0.012;0.03	B;B;B;B;B;B;B	0.22152	0.027;0.017;0.013;0.038;0.009;0.026;0.038	T	0.51100	-0.8748	8	0.66056	D	0.02	-1.3225	19.9662	0.97271	0.0:1.0:0.0:0.0	.	38;38;38;38;38;38;38	Q2LD45;B7Z293;B7Z2J6;Q2LD48;Q2LD46;Q2LD47;E7ENI9	.;.;.;.;.;.;.	I	38	.	ENSP00000371003:T38I	T	+	2	0	ZMYND11	216065	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.445000	0.80570	2.701000	0.92244	0.650000	0.86243	ACA		0.363	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		8	39	0	0	0	1	0	8	39				
PAN2	9924	broad.mit.edu	37	12	56713674	56713674	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:56713674C>T	ENST00000425394.2	-	21	3308	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	PAN2_ENST00000549090.1_5'Flank|PAN2_ENST00000440411.3_Missense_Mutation_p.D974N|PAN2_ENST00000257931.5_Missense_Mutation_p.D977N|PAN2_ENST00000548043.1_Missense_Mutation_p.D978N	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	AACTCAGCATCCAGACCCACC	0.493																																						ENST00000425394.2																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2932-2934)Gat>Aat		PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)							133.0	109.0	117.0					12																	56713674		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56713674C>T	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2932G>A	12.37:g.56713674C>T	ENSP00000401721:p.Asp978Asn					PAN2_ENST00000257931.5_Missense_Mutation_p.D977N|PAN2_ENST00000440411.3_Missense_Mutation_p.D974N|PAN2_ENST00000548043.1_Missense_Mutation_p.D978N	p.D978N	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN			21	3308	-			978			Exonuclease.			Missense_Mutation	SNP	ENST00000425394.2	37	c.2932G>A	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	C	33	5.285745	0.95517	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	5.57	5.57	0.84162	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	D	0.97920	0.9316	H	0.98594	4.275	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	0.99035	1.0822	10	0.87932	D	0	-19.774	18.7086	0.91648	0.0:1.0:0.0:0.0	.	977;974;978	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	N	978;974;977;978	ENSP00000401721:D978N;ENSP00000388231:D974N;ENSP00000257931:D977N;ENSP00000449861:D978N	ENSP00000257931:D977N	D	-	1	0	PAN2	54999941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.693000	0.84214	2.793000	0.96121	0.591000	0.81541	GAT		0.493	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		9	40	0	0	0	1	0	9	40				
CSMD2	114784	broad.mit.edu	37	1	34006739	34006739	+	Missense_Mutation	SNP	C	C	T	rs139840174		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:34006739C>T	ENST00000373381.4	-	59	9624	c.9448G>A	c.(9448-9450)Gtc>Atc	p.V3150I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3122	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCTTTGCAGACGGGCTTGGTT	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20872	0.0		0.0	False		,,,				2504	0.0					ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9448-9450)Gtc>Atc		CUB and Sushi multiple domains 2		C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	167.0	156.0	159.0		9016	3.5	0.9	1	dbSNP_134	159	2,8598	2.2+/-6.3	0,2,4298	yes	missense	CSMD2	NM_052896.3	29	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	3006/3488	34006739	3,13003	2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34006739C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9448G>A	1.37:g.34006739C>T	ENSP00000362479:p.Val3150Ile						p.V3150I	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			59	9624	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	3122			Sushi 25.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9448G>A		.	.	.	.	.	.	.	.	.	.	C	10.32	1.316893	0.23908	2.27E-4	2.33E-4	ENSG00000121904	ENST00000373381	T	0.65732	-0.17	5.45	3.52	0.40303	Complement control module (2);Sushi/SCR/CCP (3);	0.328480	0.28360	N	0.015635	T	0.44664	0.1304	N	0.25485	0.75	0.58432	D	0.999992	B;B	0.10296	0.003;0.003	B;B	0.15484	0.013;0.009	T	0.34551	-0.9824	10	0.38643	T	0.18	.	6.9309	0.24442	0.0:0.7042:0.1433:0.1525	.	3006;3150	Q7Z408;E7EUA6	CSMD2_HUMAN;.	I	3150	ENSP00000362479:V3150I	ENSP00000241312:V3006I	V	-	1	0	CSMD2	33779326	0.525000	0.26290	0.855000	0.33649	0.875000	0.50365	0.980000	0.29513	1.311000	0.45024	0.455000	0.32223	GTC		0.507	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		15	76	0	0	0	1	0	15	76				
FBXO27	126433	broad.mit.edu	37	19	39521925	39521925	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:39521925C>T	ENST00000292853.4	-	3	519	c.400G>A	c.(400-402)Gac>Aac	p.D134N	FBXO27_ENST00000509137.2_Missense_Mutation_p.D134N|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133N|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	134	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCCAGCCGTCCCCACCGTGT	0.567																																						ENST00000292853.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17						c.(400-402)Gac>Aac		F-box protein 27							88.0	83.0	85.0					19																	39521925		2203	4300	6503	SO:0001583	missense	126433				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding	g.chr19:39521925C>T	AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.400G>A	19.37:g.39521925C>T	ENSP00000292853:p.Asp134Asn					FBXO27_ENST00000509137.2_Missense_Mutation_p.D134N|CTB-189B5.3_ENST00000597303.1_RNA|FBXO27_ENST00000600828.1_Missense_Mutation_p.D133N	p.D134N	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		3	519	-	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		134			FBA.		Q96C87	Missense_Mutation	SNP	ENST00000292853.4	37	c.400G>A	CCDS12527.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174628	0.57692	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.42513	0.97;0.97	3.66	-2.68	0.06041	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	1.007380	0.07998	N	0.988231	T	0.37489	0.1005	N	0.20445	0.575	0.09310	N	1	D	0.59767	0.986	P	0.61328	0.887	T	0.31336	-0.9947	10	0.27785	T	0.31	-5.9169	4.8575	0.13566	0.0:0.468:0.1503:0.3818	.	134	Q8NI29	FBX27_HUMAN	N	134	ENSP00000292853:D134N;ENSP00000437662:D134N	ENSP00000292853:D134N	D	-	1	0	FBXO27	44213765	0.000000	0.05858	0.000000	0.03702	0.549000	0.35272	-0.279000	0.08479	-0.516000	0.06470	-0.359000	0.07587	GAC		0.567	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463281.1			9	71	0	0	0	1	0	9	71				
NPIPB15	440348	broad.mit.edu	37	16	74425377	74425377	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:74425377G>T	ENST00000429990.1	+	7	827	c.731G>T	c.(730-732)gGc>gTc	p.G244V				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	244						extracellular region (GO:0005576)											AACAGGATGGGCCGCCAGCCA	0.537																																						ENST00000429990.1																			0											c.(730-732)gGc>gTc		nuclear pore complex interacting protein family, member B15							42.0	44.0	43.0					16																	74425377		1951	4161	6112	SO:0001583	missense	440348							g.chr16:74425377G>T	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.731G>T	16.37:g.74425377G>T	ENSP00000411140:p.Gly244Val						p.G244V							7	827	+								C9J9U8	Missense_Mutation	SNP	ENST00000429990.1	37	c.731G>T		.	.	.	.	.	.	.	.	.	.	g	8.818	0.936964	0.18206	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.65178	-0.14	.	.	.	.	.	.	.	.	T	0.70064	0.3181	L	0.51422	1.61	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.56968	-0.7891	7	0.72032	D	0.01	.	.	.	.	.	183	A6NHN6	NPPL2_HUMAN	V	122;244	ENSP00000411140:G244V	ENSP00000411140:G244V	G	+	2	0	NPIPL2	72982878	0.022000	0.18835	0.009000	0.14445	0.023000	0.10783	0.064000	0.14437	0.448000	0.26722	0.064000	0.15345	GGC		0.537	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		5	52	1	0	0.00307968	1	0.003208	5	52				
BRINP2	57795	broad.mit.edu	37	1	177199063	177199063	+	Silent	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:177199063C>G	ENST00000361539.4	+	2	363	c.51C>G	c.(49-51)gcC>gcG	p.A17A		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	17					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CGGCGGTGGCCCCATGGACAG	0.662																																						ENST00000361539.4																			0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						c.(49-51)gcC>gcG									28.0	34.0	32.0					1																	177199063		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177199063C>G		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.51C>G	1.37:g.177199063C>G							p.A17A	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN			2	363	+			17					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.51C>G	CCDS1320.1																																																																																				0.662	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		17	43	0	0	0	1	0	17	43				
ITSN2	50618	broad.mit.edu	37	2	24484594	24484594	+	Silent	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:24484594T>A	ENST00000355123.4	-	21	2816	c.2373A>T	c.(2371-2373)gtA>gtT	p.V791V	ITSN2_ENST00000361999.3_Silent_p.V764V|ITSN2_ENST00000406921.3_Silent_p.V791V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	791	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGGTTCTCCTACGGTTTTTT	0.333																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(2371-2373)gtA>gtT		intersectin 2							60.0	60.0	60.0					2																	24484594		2203	4300	6503	SO:0001819	synonymous_variant	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24484594T>A	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.2373A>T	2.37:g.24484594T>A						ITSN2_ENST00000361999.3_Silent_p.V764V|ITSN2_ENST00000406921.3_Silent_p.V791V	p.V791V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			21	2816	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		791			SH3 1.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	c.2373A>T	CCDS1710.2																																																																																				0.333	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		4	22	0	0	0	1	0	4	22				
NOTCH1	4851	broad.mit.edu	37	9	139413171	139413171	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:139413171A>T	ENST00000277541.6	-	6	1046	c.971T>A	c.(970-972)gTc>gAc	p.V324D	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	324	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCAGCCGTTGACACACACGCA	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(970-972)gTc>gAc		notch 1							60.0	68.0	66.0					9																	139413171		2201	4298	6499	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413171A>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.971T>A	9.37:g.139413171A>T	ENSP00000277541:p.Val324Asp	HNSCC(8;0.001)					p.V324D	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1046	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	324			EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.971T>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	A	28.7	4.945658	0.92593	.	.	ENSG00000148400	ENST00000277541	D	0.91686	-2.89	5.3	5.3	0.74995	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	L	0.33339	1.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89486	0.3753	10	0.12103	T	0.63	.	14.055	0.64761	1.0:0.0:0.0:0.0	.	324	P46531	NOTC1_HUMAN	D	324	ENSP00000277541:V324D	ENSP00000277541:V324D	V	-	2	0	NOTCH1	138532992	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	8.601000	0.90864	2.004000	0.58718	0.459000	0.35465	GTC		0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		4	54	0	0	0	1	0	4	54				
CCDC66	285331	broad.mit.edu	37	3	56647723	56647723	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:56647723G>A	ENST00000394672.3	+	11	1581	c.1511G>A	c.(1510-1512)cGt>cAt	p.R504H	CCDC66_ENST00000436465.2_Missense_Mutation_p.R504H|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	504					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GCACAGGAACGTGAAGAGATG	0.398																																						ENST00000394672.3																			0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1510-1512)cGt>cAt		coiled-coil domain containing 66							185.0	174.0	178.0					3																	56647723		2203	4300	6503	SO:0001583	missense	285331							g.chr3:56647723G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1511G>A	3.37:g.56647723G>A	ENSP00000378167:p.Arg504His					CCDC66_ENST00000436465.2_Missense_Mutation_p.R504H|CCDC66_ENST00000326595.7_Missense_Mutation_p.R470H	p.R504H	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	11	1581	+			504					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1511G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591343	0.66219	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.49	2.75	0.32379	.	0.696627	0.13836	N	0.359405	T	0.66406	0.2786	M	0.78049	2.395	0.80722	D	1	D	0.62365	0.991	P	0.54100	0.742	T	0.64123	-0.6481	10	0.72032	D	0.01	-8.2949	7.0024	0.24817	0.4187:0.0:0.5813:0.0	.	504	A2RUB6	CCD66_HUMAN	H	460;504;470;504	ENSP00000401451:R460H;ENSP00000378167:R504H;ENSP00000326050:R470H;ENSP00000404320:R504H	ENSP00000326050:R470H	R	+	2	0	CCDC66	56622763	1.000000	0.71417	0.741000	0.31004	0.924000	0.55760	2.005000	0.40864	0.298000	0.22638	0.484000	0.47621	CGT		0.398	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		6	63	0	0	0	1	0	6	63				
CPEB2	132864	broad.mit.edu	37	4	15063859	15063859	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:15063859T>A	ENST00000507071.1	+	10	1604	c.1517T>A	c.(1516-1518)cTt>cAt	p.L506H	CPEB2_ENST00000382401.3_Missense_Mutation_p.L479H|CPEB2_ENST00000382395.3_Missense_Mutation_p.L484H|CPEB2_ENST00000345451.3_Missense_Mutation_p.L476H|CPEB2_ENST00000541112.1_Missense_Mutation_p.L943H|CPEB2_ENST00000442003.2_Missense_Mutation_p.L924H|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.L514H|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000538197.1_Missense_Mutation_p.L951H			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	506	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						TTTGTTCAGCTTCAGCATGGT	0.423																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2851-2853)cTt>cAt		cytoplasmic polyadenylation element binding protein 2							191.0	187.0	189.0					4																	15063859		2203	4300	6503	SO:0001583	missense	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15063859T>A	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1517T>A	4.37:g.15063859T>A	ENSP00000424084:p.Leu506His					CPEB2_ENST00000507071.1_Missense_Mutation_p.L506H|CPEB2_ENST00000259997.5_Missense_Mutation_p.L514H|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.L924H|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Missense_Mutation_p.L479H|CPEB2_ENST00000345451.3_Missense_Mutation_p.L476H|CPEB2_ENST00000541112.1_Missense_Mutation_p.L943H|CPEB2_ENST00000382395.3_Missense_Mutation_p.L484H	p.L951H	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			11	2852	+			506					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Missense_Mutation	SNP	ENST00000507071.1	37	c.2852T>A		.	.	.	.	.	.	.	.	.	.	T	24.4	4.523561	0.85600	.	.	ENSG00000137449	ENST00000538197;ENST00000541112;ENST00000442003;ENST00000507071;ENST00000345451;ENST00000382395;ENST00000382401;ENST00000259997;ENST00000382391;ENST00000509684	T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.09	5.09	0.68999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.997;0.999;0.998;0.999;1.0;0.997	T	0.60672	-0.7217	10	0.87932	D	0	-13.4172	14.8666	0.70422	0.0:0.0:0.0:1.0	.	479;484;924;951;476;506	Q7Z5Q1-4;Q7Z5Q1-6;E7EPM3;F5H160;Q7Z5Q1-5;Q7Z5Q1	.;.;.;.;.;CPEB2_HUMAN	H	951;943;924;506;476;484;479;514;493;159	ENSP00000443985:L951H;ENSP00000437884:L943H;ENSP00000414270:L924H;ENSP00000424084:L506H;ENSP00000334058:L476H;ENSP00000371832:L484H;ENSP00000371838:L479H;ENSP00000259997:L514H;ENSP00000423890:L159H	ENSP00000259997:L514H	L	+	2	0	CPEB2	14672957	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.040000	0.89188	1.913000	0.55393	0.533000	0.62120	CTT		0.423	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		43	107	0	0	0	1	0	43	107				
SENP6	26054	broad.mit.edu	37	6	76376581	76376581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr6:76376581G>A	ENST00000447266.2	+	10	1626	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	SENP6_ENST00000541192.1_5'Flank|SENP6_ENST00000370010.2_Missense_Mutation_p.R376H|SENP6_ENST00000327284.8_Missense_Mutation_p.R376H|SENP6_ENST00000370014.3_Missense_Mutation_p.R383H	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	383					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAGCAGAGCGTGAACTACGA	0.423																																						ENST00000370014.3																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1147-1149)cGt>cAt		SUMO1/sentrin specific peptidase 6							136.0	130.0	132.0					6																	76376581		1911	4125	6036	SO:0001583	missense	26054				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity	g.chr6:76376581G>A		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1148G>A	6.37:g.76376581G>A	ENSP00000402527:p.Arg383His					SENP6_ENST00000370010.2_Missense_Mutation_p.R376H|SENP6_ENST00000447266.2_Missense_Mutation_p.R383H|SENP6_ENST00000327284.8_Missense_Mutation_p.R376H	p.R383H	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN			10	1767	+		all_hematologic(105;0.189)	383					A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	c.1148G>A	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	G	2.611	-0.290767	0.05568	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947	T;T;T;T;T	0.29397	2.82;2.8;1.57;2.8;1.57	5.32	-2.08	0.07254	.	0.720235	0.14675	N	0.305088	T	0.01976	0.0062	N	0.00368	-1.59	0.80722	D	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.45145	-0.9281	10	0.12766	T	0.61	-0.9055	10.3596	0.43984	0.6697:0.0:0.3303:0.0	.	376;383;376	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	H	376;383;232;376;383;273	ENSP00000359027:R376H;ENSP00000359031:R383H;ENSP00000321820:R376H;ENSP00000402527:R383H;ENSP00000391426:R273H	ENSP00000321820:R376H	R	+	2	0	SENP6	76433301	1.000000	0.71417	0.981000	0.43875	0.298000	0.27526	1.203000	0.32284	-0.431000	0.07307	-1.124000	0.02001	CGT		0.423	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571		8	57	0	0	0	1	0	8	57				
KIF1A	547	broad.mit.edu	37	2	241685200	241685200	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:241685200G>A	ENST00000320389.7	-	29	3184	c.3026C>T	c.(3025-3027)gCg>gTg	p.A1009V	KIF1A_ENST00000498729.2_Missense_Mutation_p.A1110V	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1009					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GATGCTGGACGCCTGCAGGAC	0.627																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3328-3330)gCg>gTg		kinesin family member 1A							33.0	37.0	36.0					2																	241685200		2052	4211	6263	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241685200G>A	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3026C>T	2.37:g.241685200G>A	ENSP00000322791:p.Ala1009Val					KIF1A_ENST00000320389.7_Missense_Mutation_p.A1009V	p.A1110V	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	31	3575	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1009					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.3329C>T	CCDS46561.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.643580|4.643580	0.87859|0.87859	.|.	.|.	ENSG00000130294|ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283|ENST00000415042	T;T;T|.	0.81415|.	-1.49;-1.49;-1.49|.	4.27|4.27	4.27|4.27	0.50696|0.50696	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.78916|0.78916	0.4359|0.4359	M|M	0.85041|0.85041	2.73|2.73	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.994|.	D;D;P|.	0.80764|.	0.994;0.994;0.592|.	T|T	0.82606|0.82606	-0.0374|-0.0374	10|5	0.38643|.	T|.	0.18|.	.|.	16.6962|16.6962	0.85336|0.85336	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1110;1110;1009|.	F5H045;Q12756-2;Q12756|.	.;.;KIF1A_HUMAN|.	V|C	1009;1110;1110;1110|136	ENSP00000322791:A1009V;ENSP00000438388:A1110V;ENSP00000384231:A1110V|.	ENSP00000322791:A1009V|.	A|R	-|-	2|1	0|0	KIF1A|KIF1A	241333873|241333873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	9.617000|9.617000	0.98361|0.98361	1.929000|1.929000	0.55896|0.55896	0.313000|0.313000	0.20887|0.20887	GCG|CGT		0.627	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		10	10	0	0	0	1	0	10	10				
GPC3	2719	broad.mit.edu	37	X	133087227	133087227	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:133087227G>C	ENST00000370818.3	-	2	632	c.187C>G	c.(187-189)Caa>Gaa	p.Q63E	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Missense_Mutation_p.Q63E	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	63					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGACATACTTGCAAATCTGAT	0.473			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													ENST00000370818.3			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	"""T, D, Mis, N, F, S"""	glypican 3			O		Wilms tumour			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36						c.(187-189)Caa>Gaa		glypican 3							227.0	187.0	200.0					X																	133087227		2203	4300	6503	SO:0001583	missense	2719	Simpson-Golabi-Behmel syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:133087227G>C	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.187C>G	X.37:g.133087227G>C	ENSP00000359854:p.Gln63Glu					GPC3_ENST00000394299.2_Missense_Mutation_p.Q63E|GPC3_ENST00000543339.1_Intron	p.Q63E	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN			2	632	-	Acute lymphoblastic leukemia(192;0.000127)		63					C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	ENST00000370818.3	37	c.187C>G	CCDS14638.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.916241	0.52546	.	.	ENSG00000147257	ENST00000370818;ENST00000394299	T;T	0.52295	0.67;0.67	5.3	5.3	0.74995	.	0.150893	0.45361	D	0.000379	T	0.54046	0.1834	L	0.46157	1.445	0.80722	D	1	B;B;B	0.32968	0.213;0.213;0.392	B;B;P	0.45119	0.345;0.246;0.47	T	0.54309	-0.8313	10	0.45353	T	0.12	.	16.9001	0.86110	0.0:0.0:1.0:0.0	.	63;63;63	B4DTD8;C9JLE3;P51654	.;.;GPC3_HUMAN	E	63	ENSP00000359854:Q63E;ENSP00000377836:Q63E	ENSP00000359854:Q63E	Q	-	1	0	GPC3	132914893	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.230000	0.95299	2.197000	0.70478	0.506000	0.49869	CAA		0.473	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		10	74	0	0	0	1	0	10	74				
PCLO	27445	broad.mit.edu	37	7	82595653	82595653	+	Missense_Mutation	SNP	G	G	A	rs201837844		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:82595653G>A	ENST00000333891.9	-	4	3788	c.3451C>T	c.(3451-3453)Cct>Tct	p.P1151S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1151S	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						ACTTGGGGAGGCACTGCTGTT	0.408																																						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.(3451-3453)Cct>Tct		piccolo presynaptic cytomatrix protein							121.0	114.0	117.0					7																	82595653		1936	4145	6081	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.chr7:82595653G>A	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.3451C>T	7.37:g.82595653G>A	ENSP00000334319:p.Pro1151Ser					PCLO_ENST00000333891.8_Missense_Mutation_p.P1151S	p.P1151S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			4	3788	-			1090						Missense_Mutation	SNP	ENST00000333891.9	37	c.3451C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.965	0.179159	0.09443	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15256	2.44;2.44	5.89	0.68	0.17980	.	.	.	.	.	T	0.13586	0.0329	L	0.27053	0.805	0.21256	N	0.999743	B;B	0.21071	0.029;0.051	B;B	0.21151	0.033;0.033	T	0.26052	-1.0114	9	0.87932	D	0	.	12.9374	0.58322	0.0621:0.4064:0.5315:0.0	.	1151;1151	Q9Y6V0-5;Q9Y6V0-6	.;.	S	1090;1151;1151	ENSP00000334319:P1151S;ENSP00000388393:P1151S	ENSP00000334319:P1151S	P	-	1	0	PCLO	82433589	0.673000	0.27539	0.000000	0.03702	0.084000	0.17831	0.913000	0.28611	-0.153000	0.11137	0.655000	0.94253	CCT		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	37	0	0	0	1	0	11	37				
GNG10	2790	broad.mit.edu	37	9	114429103	114429103	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:114429103G>T	ENST00000374293.4	+	2	390	c.90G>T	c.(88-90)caG>caT	p.Q30H	DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.Q115H|DNAJC25_ENST00000556107.1_Missense_Mutation_p.Q115H	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1	P50151	GBG10_HUMAN	guanine nucleotide binding protein (G protein), gamma 10	30					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			kidney(1)	1						AGGTCTCTCAGGCAGCTGCAG	0.532																																						ENST00000374293.4																			0				kidney(1)	1						c.(88-90)caG>caT		guanine nucleotide binding protein (G protein), gamma 10							77.0	65.0	69.0					9																	114429103		2203	4300	6503	SO:0001583	missense	2790							g.chr9:114429103G>T		CCDS35107.1	9q31.3	2010-08-17			ENSG00000242616	ENSG00000242616			4402	protein-coding gene	gene with protein product		604389				7665596	Standard	NM_001017998		Approved			P50151	OTTHUMG00000157193	ENST00000374293.4:c.90G>T	9.37:g.114429103G>T	ENSP00000363411:p.Gln30His					DNAJC25-GNG10_ENST00000374294.3_Missense_Mutation_p.Q115H|DNAJC25_ENST00000556107.1_Missense_Mutation_p.Q115H	p.Q30H	NM_001017998.3|NM_001198664.1	NP_001017998.1|NP_001185593.1					2	390	+								Q3B7K2|Q4VC27	Missense_Mutation	SNP	ENST00000374293.4	37	c.90G>T	CCDS35107.1	.	.	.	.	.	.	.	.	.	.	G	19.51	3.842040	0.71488	.	.	ENSG00000059769;ENSG00000244115;ENSG00000242616	ENST00000556107;ENST00000374294;ENST00000374293	T;T;T	0.23950	1.88;1.88;1.88	5.41	4.5	0.54988	G-protein gamma domain (5);	.	.	.	.	T	0.48696	0.1514	.	.	.	0.43798	D	0.996345	D;D	0.69078	0.997;0.993	D;P	0.85130	0.997;0.78	T	0.48885	-0.8995	8	0.87932	D	0	6.0333	11.0527	0.47901	0.1433:0.0:0.8567:0.0	.	30;115	P50151;Q9H1X3-3	GBG10_HUMAN;.	H	115;115;30	ENSP00000451984:Q115H;ENSP00000363412:Q115H;ENSP00000363411:Q30H	ENSP00000363412:Q115H	Q	+	3	2	DNAJC25-GNG10;GNG10;DNAJC25	113468924	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	3.230000	0.51286	2.688000	0.91661	0.655000	0.94253	CAG		0.532	GNG10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053644.2			3	23	1	0	0.004672	1	0.00482645	3	23				
C9	735	broad.mit.edu	37	5	39331863	39331863	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:39331863T>C	ENST00000263408.4	-	5	625	c.530A>G	c.(529-531)tAc>tGc	p.Y177C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	177	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GAGTCCATTGTAGAACTCATT	0.438																																						ENST00000263408.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32						c.(529-531)tAc>tGc		complement component 9							200.0	194.0	196.0					5																	39331863		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39331863T>C		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.530A>G	5.37:g.39331863T>C	ENSP00000263408:p.Tyr177Cys					C9_ENST00000509186.1_5'UTR	p.Y177C	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	Epithelial(62;0.158)		5	625	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	177			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.530A>G	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.325851	0.60743	.	.	ENSG00000113600	ENST00000263408	T	0.37411	1.2	5.72	4.52	0.55395	Membrane attack complex component/perforin (MACPF) domain (1);	0.110984	0.64402	D	0.000011	T	0.58878	0.2153	M	0.82517	2.595	0.41674	D	0.989258	D	0.89917	1.0	D	0.71184	0.972	T	0.64495	-0.6394	10	0.72032	D	0.01	-28.4176	9.6409	0.39839	0.2422:0.0:0.0:0.7578	.	177	P02748	CO9_HUMAN	C	177	ENSP00000263408:Y177C	ENSP00000263408:Y177C	Y	-	2	0	C9	39367620	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.670000	0.25157	2.187000	0.69744	0.459000	0.35465	TAC		0.438	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			11	113	0	0	0	1	0	11	113				
MECOM	2122	broad.mit.edu	37	3	168833285	168833285	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:168833285C>T	ENST00000464456.1	-	7	3011	c.1811G>A	c.(1810-1812)cGa>cAa	p.R604Q	MECOM_ENST00000264674.3_Missense_Mutation_p.R669Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R604Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R604Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R605Q|MECOM_ENST00000494292.1_Missense_Mutation_p.R792Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R605Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R604Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	13					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GTGGTTTTTTCGAGGCTCAGT	0.512																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(1810-1812)cGa>cAa		MDS1 and EVI1 complex locus							136.0	123.0	128.0					3																	168833285		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168833285C>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.1811G>A	3.37:g.168833285C>T	ENSP00000419770:p.Arg604Gln					MECOM_ENST00000494292.1_Missense_Mutation_p.R792Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R604Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R605Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R669Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R605Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R604Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R604Q	p.R604Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			7	3011	-			13					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.1811G>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212166	0.79240	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243;ENST00000492586	T;T;T;T;T;T;T;T;T	0.10763	3.27;3.26;3.32;3.36;3.31;3.26;3.31;3.36;2.84	5.75	5.75	0.90469	.	0.584594	0.14758	N	0.300199	T	0.19046	0.0457	M	0.61703	1.905	0.47949	D	0.999554	D;D;D;D;P	0.59357	0.985;0.981;0.975;0.981;0.944	B;B;B;B;B	0.43889	0.435;0.356;0.434;0.356;0.251	T	0.02424	-1.1161	10	0.42905	T	0.14	-8.433	19.9525	0.97208	0.0:1.0:0.0:0.0	.	792;605;792;669;604	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Q	669;604;604;605;792;604;604;605;255	ENSP00000264674:R669Q;ENSP00000376493:R604Q;ENSP00000419770:R604Q;ENSP00000420048:R605Q;ENSP00000417899:R792Q;ENSP00000419995:R604Q;ENSP00000420466:R604Q;ENSP00000394302:R605Q;ENSP00000417506:R255Q	ENSP00000264674:R669Q	R	-	2	0	MECOM	170315979	0.996000	0.38824	0.980000	0.43619	0.316000	0.28119	3.680000	0.54641	2.719000	0.93026	0.655000	0.94253	CGA		0.512	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		8	35	0	0	0	1	0	8	35				
DCAF12L2	340578	broad.mit.edu	37	X	125298775	125298775	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:125298775C>T	ENST00000360028.2	-	1	1159	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R378H			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	378								p.R378H(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTTCTGGGCGCGGATGTCATA	0.642																																						ENST00000538699.1																			2	Substitution - Missense(2)	p.R378H(2)	endometrium(2)	NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1132-1134)cGc>cAc		DDB1 and CUL4 associated factor 12-like 2							64.0	69.0	67.0					X																	125298775		2201	4299	6500	SO:0001583	missense	340578							g.chrX:125298775C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1133G>A	X.37:g.125298775C>T	ENSP00000353128:p.Arg378His					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R378H	p.R378H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1213	-			378					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1133G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.533433	0.64972	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.64618	-0.11;-0.11	3.94	3.94	0.45596	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36740	N	0.002424	T	0.78972	0.4368	M	0.83774	2.66	0.45439	D	0.998418	D	0.89917	1.0	D	0.85130	0.997	T	0.81767	-0.0782	10	0.59425	D	0.04	.	12.9441	0.58364	0.0:1.0:0.0:0.0	.	378	Q5VW00	DC122_HUMAN	H	378	ENSP00000441489:R378H;ENSP00000353128:R378H	ENSP00000353128:R378H	R	-	2	0	DCAF12L2	125126456	1.000000	0.71417	0.315000	0.25238	0.566000	0.35808	6.257000	0.72480	2.213000	0.71641	0.600000	0.82982	CGC		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		15	71	0	0	0	1	0	15	71				
MARCH2	51257	broad.mit.edu	37	19	8495604	8495604	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:8495604C>A	ENST00000602117.1	+	4	890	c.435C>A	c.(433-435)ttC>ttA	p.F145L	MARCH2_ENST00000393944.1_Missense_Mutation_p.F145L|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000601283.1_Intron|RP11-886P16.6_ENST00000595706.1_RNA|MARCH2_ENST00000215555.2_Missense_Mutation_p.F145L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	145					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TGGTGTGTTTCCTGTTCATCA	0.677																																						ENST00000602117.1																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						c.(433-435)ttC>ttA		membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase							127.0	107.0	114.0					19																	8495604		2203	4300	6503	SO:0001583	missense	51257				endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr19:8495604C>A	AF151074	CCDS12202.1, CCDS32894.1	19p13.2	2013-01-09	2012-02-23			ENSG00000099785		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28038	protein-coding gene	gene with protein product		613332	"""membrane-associated ring finger (C3HC4) 2"""			11042152, 14722266	Standard	NM_016496		Approved	HSPC240, MARCH-II, RNF172	uc002mjw.3	Q9P0N8		ENST00000602117.1:c.435C>A	19.37:g.8495604C>A	ENSP00000471536:p.Phe145Leu					MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000393944.1_Missense_Mutation_p.F145L|MARCH2_ENST00000381035.4_Intron|MARCH2_ENST00000215555.2_Missense_Mutation_p.F145L	p.F145L			Q9P0N8	MARH2_HUMAN			4	890	+			145					A6NP10|Q5H785|Q8N5A3|Q96B78	Missense_Mutation	SNP	ENST00000602117.1	37	c.435C>A	CCDS12202.1	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216925	0.58452	.	.	ENSG00000099785	ENST00000393944;ENST00000215555	T;T	0.18338	2.22;2.22	4.26	2.91	0.33838	.	0.247637	0.41001	D	0.000976	T	0.15262	0.0368	M	0.68952	2.095	0.80722	D	1	P	0.49090	0.919	B	0.36092	0.217	T	0.04781	-1.0927	10	0.40728	T	0.16	-44.8292	8.8541	0.35217	0.0:0.8488:0.0:0.1512	.	145	Q9P0N8	MARH2_HUMAN	L	145	ENSP00000377518:F145L;ENSP00000215555:F145L	ENSP00000215555:F145L	F	+	3	2	MARCH2	8401604	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.815000	0.38981	0.804000	0.34136	0.448000	0.29417	TTC		0.677	MARCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460361.2	NM_016496		23	48	1	0	7.33532e-06	1	7.97317e-06	23	48				
MYO9B	4650	broad.mit.edu	37	19	17322584	17322584	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17322584G>A	ENST00000595618.1	+	39	6211	c.6059G>A	c.(6058-6060)gGt>gAt	p.G2020D	MYO9B_ENST00000594824.1_Splice_Site|MYO9B_ENST00000397274.2_Missense_Mutation_p.G2020D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2020	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCTCGGAAGGTCAGTATTAA	0.677																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(6058-6060)gGt>gAt		myosin IXB							30.0	42.0	38.0					19																	17322584		1897	4105	6002	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17322584G>A		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000595618.1:c.6059G>A	19.37:g.17322584G>A	ENSP00000471457:p.Gly2020Asp					MYO9B_ENST00000397274.2_Missense_Mutation_p.G2020D|MYO9B_ENST00000594824.1_Splice_Site	p.G2020D	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			39	6211	+			2020			Tail.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000595618.1	37	c.6059G>A	CCDS46010.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.9|21.9	4.222084|4.222084	0.79464|0.79464	.|.	.|.	ENSG00000099331|ENSG00000099331	ENST00000319396|ENST00000397274	.|D	.|0.86865	.|-2.18	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84156	.|0.5410	L|L	0.44542|0.44542	1.39|1.39	0.48696|0.48696	D|D	0.999694|0.999694	.|P	.|0.47106	.|0.89	.|B	.|0.41332	.|0.354	.|D	.|0.87035	.|0.2137	.|9	.|0.87932	.|D	.|0	.|.	17.1334|17.1334	0.86732|0.86732	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2026	.|Q4LE74	.|.	.|D	-1|2020	.|ENSP00000380444:G2020D	.|ENSP00000380444:G2020D	.|G	+|+	.|2	.|0	MYO9B|MYO9B	17183584|17183584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.719000|7.719000	0.84751|0.84751	2.305000|2.305000	0.77605|0.77605	0.655000|0.655000	0.94253|0.94253	.|GGT		0.677	MYO9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463235.1			5	37	0	0	0	1	0	5	37				
SLC7A7	9056	broad.mit.edu	37	14	23243308	23243308	+	Silent	SNP	C	C	T	rs386833801		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:23243308C>T	ENST00000397532.3	-	9	1788	c.1263G>A	c.(1261-1263)ccG>ccA	p.P421P	SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.P421P|SLC7A7_ENST00000285850.7_Silent_p.P421P|SLC7A7_ENST00000554517.1_Silent_p.P155P|SLC7A7_ENST00000397529.2_Silent_p.P421P|SLC7A7_ENST00000555702.1_Silent_p.P421P			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	421					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGAAGACAATCGGGAAGAAAA	0.493																																						ENST00000397532.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20						c.(1261-1263)ccG>ccA		solute carrier family 7 (amino acid transporter light chain, y+L system), member 7							125.0	123.0	124.0					14																	23243308		2203	4300	6503	SO:0001819	synonymous_variant	9056				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity	g.chr14:23243308C>T	AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1263G>A	14.37:g.23243308C>T						SLC7A7_ENST00000555702.1_Silent_p.P421P|SLC7A7_ENST00000285850.7_Silent_p.P421P|SLC7A7_ENST00000554517.1_Silent_p.P155P|SLC7A7_ENST00000397528.4_Silent_p.P421P|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Silent_p.P421P	p.P421P			Q9UM01	YLAT1_HUMAN		GBM - Glioblastoma multiforme(265;0.00741)	9	1788	-	all_cancers(95;8.44e-05)		421					B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	c.1263G>A	CCDS9574.1	.	.	.	.	.	.	.	.	.	.	C	9.033	0.987814	0.18966	.	.	ENSG00000155465	ENST00000556350	.	.	.	6.13	4.3	0.51218	.	.	.	.	.	T	0.55114	0.1900	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51180	-0.8738	4	.	.	.	.	5.9013	0.18967	0.0734:0.1586:0.636:0.132	.	.	.	.	Q	86	.	.	R	-	2	0	SLC7A7	22313148	0.995000	0.38212	1.000000	0.80357	0.912000	0.54170	0.335000	0.19806	0.908000	0.36671	-0.218000	0.12543	CGA		0.493	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3			11	50	0	0	0	1	0	11	50				
FBN2	2201	broad.mit.edu	37	5	127624856	127624856	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:127624856C>A	ENST00000508053.1	-	58	7574	c.6600G>T	c.(6598-6600)atG>atT	p.M2200I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2200I			P35556	FBN2_HUMAN	fibrillin 2	2200	EGF-like 36; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGTTGTAGCCCATTGGACATT	0.398																																						ENST00000508053.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(6598-6600)atG>atT		fibrillin 2							158.0	146.0	150.0					5																	127624856		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127624856C>A	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.6600G>T	5.37:g.127624856C>A	ENSP00000424571:p.Met2200Ile					FBN2_ENST00000262464.4_Missense_Mutation_p.M2200I	p.M2200I			P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	58	7574	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	2200			EGF-like 36; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.6600G>T	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.231807	0.39399	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.91894	-2.93;-2.93	5.76	4.83	0.62350	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.80171	0.4574	N	0.01771	-0.73	0.42263	D	0.992028	B	0.06786	0.001	B	0.10450	0.005	T	0.74811	-0.3538	10	0.20519	T	0.43	.	16.6128	0.84892	0.0:0.8701:0.1299:0.0	.	2200	P35556	FBN2_HUMAN	I	2200	ENSP00000262464:M2200I;ENSP00000424571:M2200I	ENSP00000262464:M2200I	M	-	3	0	FBN2	127652755	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.433000	0.21477	2.882000	0.98803	0.655000	0.94253	ATG		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		10	54	1	0	1.58986e-06	1	1.7744e-06	10	54				
MCF2L2	23101	broad.mit.edu	37	3	182923983	182923983	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:182923983C>T	ENST00000328913.3	-	24	3029	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H	MCF2L2_ENST00000473233.1_Missense_Mutation_p.R911H|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	911	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCCAAGCTGGCGAATTGAAAG	0.423																																						ENST00000328913.3																			0				breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(2731-2733)cGc>cAc		MCF.2 cell line derived transforming sequence-like 2							134.0	120.0	125.0					3																	182923983		2203	4300	6503	SO:0001583	missense	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182923983C>T	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2732G>A	3.37:g.182923983C>T	ENSP00000328118:p.Arg911His					MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R911H	p.R911H	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		24	3029	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		911			PH.		O94942|Q6P2B8|Q6ZVJ5|Q8N318	Missense_Mutation	SNP	ENST00000328913.3	37	c.2732G>A	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848764	0.32699	.	.	ENSG00000053524	ENST00000328913;ENST00000473233	T;T	0.12147	2.71;2.71	4.28	-0.216	0.13153	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.273225	0.30109	N	0.010384	T	0.07234	0.0183	N	0.22421	0.69	0.29524	N	0.853267	B	0.09022	0.002	B	0.06405	0.002	T	0.13045	-1.0524	10	0.87932	D	0	.	3.6027	0.08031	0.0:0.4376:0.1914:0.371	.	911	Q86YR7	MF2L2_HUMAN	H	911	ENSP00000328118:R911H;ENSP00000420070:R911H	ENSP00000328118:R911H	R	-	2	0	MCF2L2	184406677	0.097000	0.21791	0.992000	0.48379	0.835000	0.47333	-1.260000	0.02858	0.118000	0.18165	0.563000	0.77884	CGC		0.423	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078		17	50	0	0	0	1	0	17	50				
MACF1	23499	broad.mit.edu	37	1	39924151	39924151	+	Missense_Mutation	SNP	G	G	A	rs188161549	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:39924151G>A	ENST00000372915.3	+	89	20969	c.20882G>A	c.(20881-20883)cGc>cAc	p.R6961H	MACF1_ENST00000317713.7_Missense_Mutation_p.R5003H|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003H|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099H|MACF1_ENST00000564288.1_Missense_Mutation_p.R7062H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAGAAATCCCGCAGCGGAGGC	0.463													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17632	0.0		0.0	False		,,,				2504	0.0					ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(21184-21186)cGc>cAc		microtubule-actin crosslinking factor 1							65.0	67.0	66.0					1																	39924151		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39924151G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20882G>A	1.37:g.39924151G>A	ENSP00000362006:p.Arg6961His					MACF1_ENST00000539005.1_Missense_Mutation_p.R4873H|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099H|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003H|MACF1_ENST00000289893.4_Missense_Mutation_p.R5505H|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003H|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961H|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003H	p.R7062H			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		90	21962	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6961			EF-hand 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.21185G>A		2|2	9.157509157509158E-4|9.157509157509158E-4	0|0	0.0|0.0	2|2	0.0055248618784530384|0.0055248618784530384	0|0	0.0|0.0	0|0	0.0|0.0	G|G	18.53|18.53	3.643170|3.643170	0.67244|0.67244	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000360115|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.70282	.|-0.43;-0.36;-0.43;-0.47;-0.26;0.73	5.67|5.67	4.76|4.76	0.60689|0.60689	.|.	.|0.091117	.|0.48767	.|N	.|0.000168	T|T	0.73305|0.73305	0.3570|0.3570	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.71656	.|0.974;0.949	T|T	0.79232|0.79232	-0.1888|-0.1888	5|10	.|0.87932	.|D	.|0	.|.	14.5457|14.5457	0.68030|0.68030	0.0703:0.0:0.9297:0.0|0.0703:0.0:0.9297:0.0	.|.	.|6961;5003	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	T|H	105|5003;6961;5003;5003;4873;5505	.|ENSP00000439537:R5003H;ENSP00000362006:R6961H;ENSP00000354573:R5003H;ENSP00000313438:R5003H;ENSP00000444364:R4873H;ENSP00000289893:R5505H	.|ENSP00000289893:R5505H	A|R	+|+	1|2	0|0	MACF1|MACF1	39696738|39696738	1.000000|1.000000	0.71417|0.71417	0.901000|0.901000	0.35422|0.35422	0.189000|0.189000	0.23516|0.23516	6.468000|6.468000	0.73551|0.73551	1.395000|1.395000	0.46643|0.46643	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		5	39	0	0	0	1	0	5	39				
AP1B1	162	broad.mit.edu	37	22	29736732	29736732	+	Silent	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29736732G>A	ENST00000405198.1	-	13	1942	c.1911C>T	c.(1909-1911)ctC>ctT	p.L637L	AP1B1_ENST00000357586.2_Silent_p.L637L|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000415447.1_Silent_p.L637L|AP1B1_ENST00000356015.2_Silent_p.L637L|AP1B1_ENST00000317368.7_Silent_p.L637L|AP1B1_ENST00000432560.2_Silent_p.L637L|AP1B1_ENST00000402502.1_Silent_p.L637L			Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	637	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTGGGGGGCCGAGGTCCAGGT	0.672																																						ENST00000357586.2																			0				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1909-1911)ctC>ctT		adaptor-related protein complex 1, beta 1 subunit							19.0	19.0	19.0					22																	29736732		2198	4294	6492	SO:0001819	synonymous_variant	162				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity	g.chr22:29736732G>A	L13939	CCDS13855.1, CCDS13856.1, CCDS13856.2, CCDS54515.1	22q12.2	2010-06-18			ENSG00000100280	ENSG00000100280			554	protein-coding gene	gene with protein product		600157		ADTB1, CLAPB2		7987321, 8812422	Standard	NM_145730		Approved	BAM22, AP105A	uc003afj.3	Q10567	OTTHUMG00000151109	ENST00000405198.1:c.1911C>T	22.37:g.29736732G>A						AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000402502.1_Silent_p.L637L|AP1B1_ENST00000317368.7_Silent_p.L637L|AP1B1_ENST00000432560.2_Silent_p.L637L|AP1B1_ENST00000405198.1_Silent_p.L637L|AP1B1_ENST00000415447.1_Silent_p.L637L|AP1B1_ENST00000356015.2_Silent_p.L637L	p.L637L	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN			14	2097	-			637			Pro-rich (stalk region).		C9JRD1|F8WDL0|P78436|Q20WL3|Q86X54	Silent	SNP	ENST00000405198.1	37	c.1911C>T	CCDS13855.1																																																																																				0.672	AP1B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321374.1	NM_001127		3	9	0	0	0	1	0	3	9				
DLX6	1750	broad.mit.edu	37	7	96639226	96639226	+	Missense_Mutation	SNP	C	C	T	rs201772433		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:96639226C>T	ENST00000518156.2	+	3	1179	c.749C>T	c.(748-750)gCg>gTg	p.A250V	DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6_ENST00000555308.1_Missense_Mutation_p.A122V|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Missense_Mutation_p.A222V			P56179	DLX6_HUMAN	distal-less homeobox 6	132					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CGCTCGCCAGCGCTGCCTCCA	0.592													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16681	0.0		0.0	False		,,,				2504	0.0					ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(748-750)gCg>gTg		distal-less homeobox 6		C	VAL/ALA	0,4360		0,0,2180	34.0	37.0	36.0		749	5.8	1.0	7		36	4,8556		0,4,4276	no	missense	DLX6	NM_005222.3	64	0,4,6456	TT,TC,CC		0.0467,0.0,0.031	benign	250/294	96639226	4,12916	2180	4280	6460	SO:0001583	missense	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96639226C>T		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.749C>T	7.37:g.96639226C>T	ENSP00000428480:p.Ala250Val					DLX6_ENST00000555308.1_Missense_Mutation_p.A122V|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000007660.5_Missense_Mutation_p.A222V|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA	p.A250V			P56179	DLX6_HUMAN			3	1179	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		132					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Missense_Mutation	SNP	ENST00000518156.2	37	c.749C>T	CCDS47647.2	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159123	0.78226	0.0	4.67E-4	ENSG00000006377	ENST00000518156;ENST00000007660;ENST00000555308	D;D;D	0.92446	-3.04;-2.98;-3.01	5.76	5.76	0.90799	.	0.048569	0.85682	D	0.000000	D	0.91446	0.7300	M	0.62723	1.935	0.58432	D	0.999999	P	0.42296	0.775	B	0.42462	0.388	D	0.90723	0.4636	10	0.39692	T	0.17	-11.2366	16.2433	0.82426	0.0:0.8674:0.1326:0.0	.	222	P56179-2	.	V	250;222;122	ENSP00000428480:A250V;ENSP00000007660:A222V;ENSP00000451635:A122V	ENSP00000007660:A222V	A	+	2	0	DLX6	96477162	1.000000	0.71417	1.000000	0.80357	0.540000	0.34992	4.880000	0.63107	2.732000	0.93576	0.655000	0.94253	GCG		0.592	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222		9	32	0	0	0	1	0	9	32				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		4	41	0	0	0	1	0	4	41				
OR4L1	122742	broad.mit.edu	37	14	20528494	20528494	+	Silent	SNP	C	C	T	rs375250646		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr14:20528494C>T	ENST00000315683.1	+	1	291	c.291C>T	c.(289-291)tgC>tgT	p.C97C		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	97						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C97C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGTGGGGCTGCGTGACCCAGA	0.473																																						ENST00000315683.1																			1	Substitution - coding silent(1)	p.C97C(1)	central_nervous_system(1)	central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(289-291)tgC>tgT		olfactory receptor, family 4, subfamily L, member 1				1,4405		0,1,2202	152.0	138.0	143.0		291	3.1	1.0	14		143	0,8600		0,0,4300	no	coding-synonymous	OR4L1	NM_001004717.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		97/313	20528494	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528494C>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.291C>T	14.37:g.20528494C>T							p.C97C	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	291	+	all_cancers(95;0.00108)		97					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.291C>T	CCDS32029.1																																																																																				0.473	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			9	81	0	0	0	1	0	9	81				
SLC9A3R2	9351	broad.mit.edu	37	16	2089926	2089926	+	IGR	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr16:2089926C>T	ENST00000424542.2	+	0	2194				NTHL1_ENST00000562951.1_5'UTR|NTHL1_ENST00000219066.1_Silent_p.*313*	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2						negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						ATGCGGCCATCAGAGACCCTG	0.637																																					Ovarian(69;105 1552 17724 23473)	ENST00000219066.1																			0				lung(1)	1						c.(937-939)tGa>tAa	Base excision repair (BER), DNA glycosylases	nth endonuclease III-like 1 (E. coli)							28.0	33.0	32.0					16																	2089926		2197	4298	6495	SO:0001628	intergenic_variant	4913				depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding	g.chr16:2089926C>T	AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956		16.37:g.2089926C>T						NTHL1_ENST00000562951.1_5'UTR	p.*313*	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN			6	956	-			0					D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Silent	SNP	ENST00000424542.2	37	c.938G>A	CCDS45382.1																																																																																				0.637	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434448.1			12	49	0	0	0	1	0	12	49				
ZNF589	51385	broad.mit.edu	37	3	48309607	48309607	+	Silent	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:48309607A>G	ENST00000354698.3	+	4	498	c.426A>G	c.(424-426)gcA>gcG	p.A142A	ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Silent_p.A141A	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	142					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGCTGAAGCAGAAGATCAAC	0.502																																					Colon(9;319 328 25374 27611 50948)	ENST00000354698.3																			0				large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						c.(424-426)gcA>gcG		zinc finger protein 589							83.0	86.0	85.0					3																	48309607		1885	4110	5995	SO:0001819	synonymous_variant	51385				regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:48309607A>G	AF114816	CCDS43085.1	3p21	2013-01-08			ENSG00000164048	ENSG00000164048		"""Zinc fingers, C2H2-type"", ""-"""	16747	protein-coding gene	gene with protein product						10029171	Standard	NM_016089		Approved	SZF1	uc003csl.4	Q86UQ0	OTTHUMG00000156833	ENST00000354698.3:c.426A>G	3.37:g.48309607A>G						ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000440261.2_Silent_p.A141A|ZNF589_ENST00000427617.2_Intron	p.A142A	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	4	498	+			142					Q86UC9|Q9BRI6|Q9BRY3|Q9Y611|Q9Y612	Silent	SNP	ENST00000354698.3	37	c.426A>G	CCDS43085.1																																																																																				0.502	ZNF589-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346124.1	NM_016089		4	89	0	0	0	1	0	4	89				
GRIN2D	2906	broad.mit.edu	37	19	48917266	48917266	+	Silent	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:48917266G>T	ENST00000263269.3	+	4	1192	c.1104G>T	c.(1102-1104)acG>acT	p.T368T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	368					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGAACATCACGTGGGATAACC	0.587																																						ENST00000263269.3																			0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1102-1104)acG>acT		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						112.0	88.0	96.0					19																	48917266		2203	4300	6503	SO:0001819	synonymous_variant	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48917266G>T	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1104G>T	19.37:g.48917266G>T							p.T368T	NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	4	1192	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	368						Silent	SNP	ENST00000263269.3	37	c.1104G>T	CCDS12719.1																																																																																				0.587	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1			3	19	1	0	0.115264	1	0.116194	3	19				
OR4C6	219432	broad.mit.edu	37	11	55433016	55433016	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:55433016G>T	ENST00000314259.3	+	1	403	c.374G>T	c.(373-375)tGt>tTt	p.C125F		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GTGGCCATCTGTAAGCCCCTG	0.542																																						ENST00000314259.3																			0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						c.(373-375)tGt>tTt		olfactory receptor, family 4, subfamily C, member 6							107.0	98.0	101.0					11																	55433016		2200	4296	6496	SO:0001583	missense	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55433016G>T	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.374G>T	11.37:g.55433016G>T	ENSP00000324769:p.Cys125Phe						p.C125F	NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN			1	403	+			125					B2RP11|Q6IFD2	Missense_Mutation	SNP	ENST00000314259.3	37	c.374G>T	CCDS31506.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881146	0.72294	.	.	ENSG00000181903	ENST00000314259	T	0.34472	1.36	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.175448	0.27754	N	0.017990	T	0.58509	0.2127	H	0.98256	4.185	0.41668	D	0.989228	B	0.21309	0.054	B	0.27170	0.077	T	0.70200	-0.4937	10	0.87932	D	0	.	14.3385	0.66608	0.0:0.0:1.0:0.0	.	125	Q8NH72	OR4C6_HUMAN	F	125	ENSP00000324769:C125F	ENSP00000324769:C125F	C	+	2	0	OR4C6	55189592	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.975000	0.88055	1.693000	0.51124	0.536000	0.68110	TGT		0.542	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		4	65	1	0	0.00909568	1	0.00931934	4	65				
DAK	26007	broad.mit.edu	37	11	61109957	61109957	+	Missense_Mutation	SNP	G	G	A	rs112089652	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:61109957G>A	ENST00000394900.3	+	8	909	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						GCTGGTGTGCGCCGGATAAAG	0.597																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(679-681)cGc>cAc		dihydroxyacetone kinase 2 homolog (S. cerevisiae)		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	109.0	114.0	112.0		680	3.8	1.0	11	dbSNP_132	112	0,8598		0,0,4299	no	missense	DAK	NM_015533.3	29	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	possibly-damaging	227/576	61109957	2,13002	2203	4299	6502	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61109957G>A		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.680G>A	11.37:g.61109957G>A	ENSP00000378360:p.Arg227His						p.R227H	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			8	909	+			227			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.680G>A	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068940	0.76301	4.54E-4	0.0	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.30182	1.54;1.54	5.67	3.8	0.43715	Dak kinase (2);	0.169984	0.51477	D	0.000090	T	0.29061	0.0722	L	0.35542	1.07	0.44652	D	0.997635	P;B	0.44734	0.842;0.1	P;B	0.46452	0.517;0.067	T	0.03202	-1.1061	10	0.41790	T	0.15	-4.0481	11.9781	0.53105	0.1402:0.0:0.8598:0.0	.	227;227	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	H	227;226	ENSP00000378360:R227H;ENSP00000432539:R226H	ENSP00000378360:R227H	R	+	2	0	DAK	60866533	0.952000	0.32445	1.000000	0.80357	0.908000	0.53690	1.024000	0.30077	1.401000	0.46761	0.563000	0.77884	CGC		0.597	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		18	121	0	0	0	1	0	18	121				
IQCD	115811	broad.mit.edu	37	12	113645252	113645252	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr12:113645252C>A	ENST00000416617.2	-	2	910	c.720G>T	c.(718-720)agG>agT	p.R240S	IQCD_ENST00000299732.2_Missense_Mutation_p.R240S|IQCD_ENST00000546692.1_Missense_Mutation_p.R240S			Q96DY2	IQCD_HUMAN	IQ motif containing D	240										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CCTCTGCATTCCTGTTCTTCA	0.343																																						ENST00000546692.1																			0				endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(718-720)agG>agT		IQ motif containing D							85.0	86.0	86.0					12																	113645252		2203	4300	6503	SO:0001583	missense	115811							g.chr12:113645252C>A	BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.720G>T	12.37:g.113645252C>A	ENSP00000400669:p.Arg240Ser					IQCD_ENST00000416617.2_Missense_Mutation_p.R240S|IQCD_ENST00000299732.2_Missense_Mutation_p.R240S	p.R240S			Q96DY2	IQCD_HUMAN			2	1093	-			240					Q6ZSU0	Missense_Mutation	SNP	ENST00000416617.2	37	c.720G>T		.	.	.	.	.	.	.	.	.	.	C	15.44	2.832952	0.50951	.	.	ENSG00000166578	ENST00000299732;ENST00000416617;ENST00000546692;ENST00000392574	T;T;T	0.09817	2.94;2.94;2.94	5.01	2.2	0.27929	.	0.194691	0.43416	D	0.000566	T	0.24967	0.0606	M	0.71581	2.175	0.24437	N	0.994544	D;D	0.71674	0.998;0.992	D;P	0.64237	0.923;0.838	T	0.03576	-1.1023	10	0.72032	D	0.01	-31.9487	8.1896	0.31359	0.0:0.6765:0.0:0.3235	.	240;240	F8VZV9;Q96DY2-2	.;.	S	240	ENSP00000299732:R240S;ENSP00000400669:R240S;ENSP00000446623:R240S	ENSP00000299732:R240S	R	-	3	2	IQCD	112129635	0.968000	0.33430	0.169000	0.22859	0.006000	0.05464	1.530000	0.36007	0.244000	0.21351	-0.244000	0.11960	AGG		0.343	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405327.1	NM_138451		12	43	1	0	0.0809354	1	0.0822514	12	43				
FAM47B	170062	broad.mit.edu	37	X	34961658	34961658	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chrX:34961658C>T	ENST00000329357.5	+	1	746	c.710C>T	c.(709-711)cCg>cTg	p.P237L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	237	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTCTCCACCCGGAACCTCCA	0.642																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(709-711)cCg>cTg		family with sequence similarity 47, member B							51.0	50.0	50.0					X																	34961658		2202	4300	6502	SO:0001583	missense	170062							g.chrX:34961658C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.710C>T	X.37:g.34961658C>T	ENSP00000328307:p.Pro237Leu						p.P237L	NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN			1	746	+			237			Pro-rich.		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.710C>T	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	C	8.632	0.893817	0.17613	.	.	ENSG00000189132	ENST00000329357	T	0.12147	2.71	0.235	0.235	0.15431	.	.	.	.	.	T	0.06325	0.0163	N	0.11201	0.11	0.32488	N	0.540615	B	0.27416	0.178	B	0.19391	0.025	T	0.19063	-1.0317	9	0.59425	D	0.04	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	237	Q8NA70	FA47B_HUMAN	L	237	ENSP00000328307:P237L	ENSP00000328307:P237L	P	+	2	0	FAM47B	34871579	0.270000	0.24152	0.002000	0.10522	0.002000	0.02628	2.308000	0.43690	0.288000	0.22398	0.292000	0.19580	CCG		0.642	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		5	45	0	0	0	1	0	5	45				
LTK	4058	broad.mit.edu	37	15	41797046	41797046	+	Missense_Mutation	SNP	C	C	T	rs141045322		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:41797046C>T	ENST00000263800.6	-	17	2141	c.2045G>A	c.(2044-2046)cGg>cAg	p.R682Q	LTK_ENST00000453182.2_Missense_Mutation_p.R552Q|LTK_ENST00000561619.1_Missense_Mutation_p.R380Q|LTK_ENST00000355166.5_Missense_Mutation_p.R621Q	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	682	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to retinoic acid (GO:0071300)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of neuron projection development (GO:0010976)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GAGCAAGGCCCGGTCCCCCCT	0.587										TSP Lung(18;0.14)			C|||	1	0.000199681	0.0	0.0	5008	,	,		17527	0.0		0.001	False		,,,				2504	0.0					ENST00000263800.6																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26						c.(2044-2046)cGg>cAg		leukocyte receptor tyrosine kinase		C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	51.0	56.0	54.0		1655,2045,1862	-4.0	0.0	15	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	LTK	NM_001135685.1,NM_002344.5,NM_206961.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	552/735,682/865,621/804	41797046	1,13005	2203	4300	6503	SO:0001583	missense	4058				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:41797046C>T	D16105	CCDS10077.1, CCDS10078.1, CCDS45237.1	15q15.1-q21.1	2009-07-10	2008-01-23		ENSG00000062524	ENSG00000062524	2.7.10.1		6721	protein-coding gene	gene with protein product		151520	"""leukocyte tyrosine kinase"""			2320375	Standard	NM_206961		Approved	TYK1	uc001zoa.3	P29376	OTTHUMG00000130339	ENST00000263800.6:c.2045G>A	15.37:g.41797046C>T	ENSP00000263800:p.Arg682Gln	TSP Lung(18;0.14)				LTK_ENST00000453182.2_Missense_Mutation_p.R552Q|LTK_ENST00000561619.1_Missense_Mutation_p.R380Q|LTK_ENST00000355166.5_Missense_Mutation_p.R621Q	p.R682Q	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)	17	2141	-		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)	682			Protein kinase.		A6NNJ8|B4DL89|E9PFX4	Missense_Mutation	SNP	ENST00000263800.6	37	c.2045G>A	CCDS10077.1	.	.	.	.	.	.	.	.	.	.	C	14.00	2.406020	0.42715	0.0	1.16E-4	ENSG00000062524	ENST00000355166;ENST00000263800;ENST00000453182	D;D;D	0.82255	-1.59;-1.59;-1.59	4.59	-4.0	0.04057	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.301359	0.18142	N	0.150366	T	0.80014	0.4546	L	0.29908	0.895	0.39974	D	0.974833	D;B;D;D	0.76494	0.999;0.084;0.999;0.996	D;B;D;P	0.63957	0.92;0.013;0.91;0.871	T	0.76645	-0.2883	10	0.48119	T	0.1	.	8.0308	0.30463	0.0:0.6245:0.1012:0.2743	.	552;552;621;682	E9PFX4;B4DL89;P29376-4;P29376	.;.;.;LTK_HUMAN	Q	621;682;552	ENSP00000347293:R621Q;ENSP00000263800:R682Q;ENSP00000392196:R552Q	ENSP00000263800:R682Q	R	-	2	0	LTK	39584338	0.019000	0.18553	0.011000	0.14972	0.926000	0.56050	0.346000	0.19997	-1.147000	0.02851	-0.150000	0.13652	CGG		0.587	LTK-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252690.2			16	51	0	0	0	1	0	16	51				
CPAMD8	27151	broad.mit.edu	37	19	17015155	17015155	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:17015155C>T	ENST00000443236.1	-	32	4304	c.4273G>A	c.(4273-4275)Gaa>Aaa	p.E1425K		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1378						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTGTCATTTCCACCTCGGCC	0.612																																						ENST00000443236.1																			0				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						c.(4273-4275)Gaa>Aaa		C3 and PZP-like, alpha-2-macroglobulin domain containing 8							79.0	85.0	83.0					19																	17015155		2084	4206	6290	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17015155C>T	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4273G>A	19.37:g.17015155C>T	ENSP00000402505:p.Glu1425Lys						p.E1425K	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN			32	4304	-			1378					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4273G>A	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.86|18.86	3.712826|3.712826	0.68730|0.68730	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.02|3.02	3.02|3.02	0.34903|0.34903	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);|.	0.000000|.	0.64402|.	U|.	0.000001|.	D|.	0.85643|.	0.5744|.	H|H	0.95260|0.95260	3.645|3.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	D|.	0.90092|.	0.4178|.	9|.	0.72032|.	D|.	0.01|.	.|.	14.0366|14.0366	0.64649|0.64649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1378|.	Q8IZJ3|.	CPMD8_HUMAN|.	K|X	1425|1435	.|.	ENSP00000291440:E1425K|.	E|W	-|-	1|3	0|0	CPAMD8|CPAMD8	16876155|16876155	1.000000|1.000000	0.71417|0.71417	0.274000|0.274000	0.24659|0.24659	0.509000|0.509000	0.34042|0.34042	6.188000|6.188000	0.72045|0.72045	1.255000|1.255000	0.44051|0.44051	0.456000|0.456000	0.33151|0.33151	GAA|TGG		0.612	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		4	79	0	0	0	1	0	4	79				
ANAPC1	64682	broad.mit.edu	37	2	112540010	112540010	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:112540010A>G	ENST00000341068.3	-	43	5910	c.5138T>C	c.(5137-5139)aTg>aCg	p.M1713T		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1713					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTGCCATCCCATTGGATCTTC	0.413																																						ENST00000341068.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						c.(5137-5139)aTg>aCg		anaphase promoting complex subunit 1							15.0	16.0	16.0					2																	112540010		2187	4267	6454	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112540010A>G	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.5138T>C	2.37:g.112540010A>G	ENSP00000339109:p.Met1713Thr						p.M1713T	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			43	5910	-			1713					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.5138T>C	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	10.72	1.430552	0.25726	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.24	4.24	0.50183	.	0.000000	0.64402	D	0.000019	T	0.42086	0.1187	N	0.25647	0.755	0.43448	D	0.995633	B	0.22604	0.072	B	0.20767	0.031	T	0.25433	-1.0132	9	0.13853	T	0.58	-17.4479	13.6526	0.62320	1.0:0.0:0.0:0.0	.	1713	Q9H1A4	APC1_HUMAN	T	1713	.	ENSP00000339109:M1713T	M	-	2	0	ANAPC1	112256481	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.928000	0.48908	1.675000	0.50919	0.397000	0.26171	ATG		0.413	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		4	15	0	0	0	1	0	4	15				
GPBP1	65056	broad.mit.edu	37	5	56526784	56526784	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:56526784C>T	ENST00000506184.2	+	4	1280	c.175C>T	c.(175-177)Cgt>Tgt	p.R59C	GPBP1_ENST00000424459.3_Missense_Mutation_p.R59C|GPBP1_ENST00000538707.1_Missense_Mutation_p.R66C|GPBP1_ENST00000511209.1_Missense_Mutation_p.R66C|GPBP1_ENST00000264779.6_Missense_Mutation_p.R66C|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000454432.2_Missense_Mutation_p.R59C			Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	59					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		TGCTATTGGGCGTCCTAATGG	0.353																																						ENST00000424459.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(175-177)Cgt>Tgt		GC-rich promoter binding protein 1							149.0	158.0	155.0					5																	56526784		2203	4300	6503	SO:0001583	missense	65056				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr5:56526784C>T		CCDS34162.1, CCDS47211.1, CCDS47212.1, CCDS47212.2, CCDS56368.1	5q11.2	2008-02-05				ENSG00000062194			29520	protein-coding gene	gene with protein product		608412				12842993	Standard	NM_022913		Approved	DKFZp761C169, vasculin	uc003jrk.4	Q86WP2		ENST00000506184.2:c.175C>T	5.37:g.56526784C>T	ENSP00000421202:p.Arg59Cys					GPBP1_ENST00000511209.1_Missense_Mutation_p.R66C|GPBP1_ENST00000264779.6_Missense_Mutation_p.R66C|GPBP1_ENST00000514387.2_5'UTR|GPBP1_ENST00000454432.2_Missense_Mutation_p.R59C|GPBP1_ENST00000506184.2_Missense_Mutation_p.R59C|GPBP1_ENST00000538707.1_Missense_Mutation_p.R66C	p.R59C	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)	4	1449	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)	59					A6NKW3|Q6NSH6|Q9H0D4|Q9H785|Q9NSN4	Missense_Mutation	SNP	ENST00000506184.2	37	c.175C>T	CCDS34162.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900970	0.72754	.	.	ENSG00000062194	ENST00000424459;ENST00000506184;ENST00000454432;ENST00000511209;ENST00000264779;ENST00000538707	T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92	5.76	4.87	0.63330	.	0.189939	0.47455	D	0.000235	T	0.49064	0.1535	L	0.29908	0.895	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;P;P;P	0.64237	0.923;0.897;0.855;0.897	T	0.49263	-0.8958	10	0.72032	D	0.01	-11.739	13.1112	0.59275	0.1267:0.7514:0.1219:0.0	.	59;66;66;59	D4PHA4;Q86WP2-2;Q86WP2-3;Q86WP2	.;.;.;GPBP1_HUMAN	C	59;59;59;66;66;66	ENSP00000401596:R59C;ENSP00000421202:R59C;ENSP00000403522:R59C;ENSP00000422337:R66C;ENSP00000264779:R66C;ENSP00000440090:R66C	ENSP00000264779:R66C	R	+	1	0	GPBP1	56562541	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.310000	0.43708	2.721000	0.93114	0.591000	0.81541	CGT		0.353	GPBP1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374496.1	NM_022913		26	57	0	0	0	1	0	26	57				
CCDC180	100499483	broad.mit.edu	37	9	100080769	100080769	+	Silent	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:100080769C>T	ENST00000357054.1	+	24	2468	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000395220.1_Intron|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000411667.2_Silent_p.I369I|CCDC180_ENST00000375202.2_Silent_p.I372I|CCDC180_ENST00000529487.1_Silent_p.I372I			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	511						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTGAGAGTATCCATACTCCCC	0.557																																						ENST00000375202.2																			0											c.(1114-1116)atC>atT		coiled-coil domain containing 180							81.0	62.0	69.0					9																	100080769		2203	4300	6503	SO:0001819	synonymous_variant	100499483							g.chr9:100080769C>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.1533C>T	9.37:g.100080769C>T						RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Silent_p.I511I|CCDC180_ENST00000395220.1_Intron|CCDC180_ENST00000411667.2_Silent_p.I369I|CCDC180_ENST00000529487.1_Silent_p.I372I|CCDC180_ENST00000460482.2_3'UTR	p.I372I							24	2468	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Silent	SNP	ENST00000357054.1	37	c.1116C>T																																																																																					0.557	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		9	35	0	0	0	1	0	9	35				
PLEKHF2	79666	broad.mit.edu	37	8	96166876	96166876	+	Silent	SNP	C	C	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr8:96166876C>A	ENST00000315367.3	+	2	845	c.604C>A	c.(604-606)Cgg>Agg	p.R202R	PLEKHF2_ENST00000519516.1_Silent_p.R202R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	202					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|membrane (GO:0016020)|transport vesicle (GO:0030133)	metal ion binding (GO:0046872)			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					TAAGCCTGTGCGGATTTGTGA	0.502																																						ENST00000315367.3																			0				breast(1)|large_intestine(1)|lung(1)|ovary(2)	5						c.(604-606)Cgg>Agg		pleckstrin homology domain containing, family F (with FYVE domain) member 2							105.0	100.0	102.0					8																	96166876		2203	4300	6503	SO:0001819	synonymous_variant	79666					transport vesicle	metal ion binding|protein binding	g.chr8:96166876C>A	AF434819	CCDS6267.1	8q22.1	2013-01-10				ENSG00000175895		"""Zinc fingers, FYVE domain containing"", ""Pleckstrin homology (PH) domain containing"""	20757	protein-coding gene	gene with protein product		615208					Standard	NM_024613		Approved	ZFYVE18, PHAFIN2, FLJ13187	uc003yhn.2	Q9H8W4		ENST00000315367.3:c.604C>A	8.37:g.96166876C>A						PLEKHF2_ENST00000519516.1_Silent_p.R202R	p.R202R	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN			2	845	+	Breast(36;3.18e-05)		202						Silent	SNP	ENST00000315367.3	37	c.604C>A	CCDS6267.1																																																																																				0.502	PLEKHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379666.1	NM_024613		19	89	1	0	5.35267e-07	1	6.02778e-07	19	89				
NLRP5	126206	broad.mit.edu	37	19	56539850	56539850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr19:56539850G>A	ENST00000390649.3	+	7	2251	c.2251G>A	c.(2251-2253)Gag>Aag	p.E751K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	751					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGTCCGCTGAGGCATGTCC	0.522																																						ENST00000390649.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(2251-2253)Gag>Aag		NLR family, pyrin domain containing 5							143.0	143.0	143.0					19																	56539850		2024	4195	6219	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539850G>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.2251G>A	19.37:g.56539850G>A	ENSP00000375063:p.Glu751Lys						p.E751K	NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	2251	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	751					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.2251G>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.648898	0.29336	.	.	ENSG00000171487	ENST00000390649	D	0.86956	-2.19	2.98	-0.608	0.11611	.	0.812996	0.10061	N	0.720939	T	0.77552	0.4147	L	0.48362	1.52	0.09310	N	1	B	0.25955	0.138	B	0.20955	0.032	T	0.58381	-0.7646	10	0.11794	T	0.64	.	5.2541	0.15539	0.4812:0.0:0.5188:0.0	.	751	P59047	NALP5_HUMAN	K	751	ENSP00000375063:E751K	ENSP00000375063:E751K	E	+	1	0	NLRP5	61231662	0.042000	0.20092	0.000000	0.03702	0.001000	0.01503	0.852000	0.27764	-0.045000	0.13468	-0.367000	0.07326	GAG		0.522	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		8	188	0	0	0	1	0	8	188				
TAF15	8148	broad.mit.edu	37	17	34171897	34171897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:34171897G>T	ENST00000588240.1	+	15	1709	c.1594G>T	c.(1594-1596)Gga>Tga	p.G532*	TAF15_ENST00000592237.1_Missense_Mutation_p.M336I|TAF15_ENST00000311979.3_Nonsense_Mutation_p.G529*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GGGGGGCTATGGAGGAGACCG	0.617			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																	ENST00000588240.1				Dom	yes		17	17q11.1-q11.2	8148	T	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""			"""L, M"""	"""TEC, CHN1, ZNF384"""		"""extraskeletal myxoid chondrosarcomas, ALL"""	TAF15/NR4A3(33)	0				lung(1)|ovary(1)|skin(2)|stomach(1)	5						c.(1594-1596)Gga>Tga		TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa							74.0	82.0	79.0					17																	34171897		2203	4300	6503	SO:0001587	stop_gained	8148				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr17:34171897G>T	U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1594G>T	17.37:g.34171897G>T	ENSP00000466950:p.Gly532*					TAF15_ENST00000311979.3_Nonsense_Mutation_p.G529*|TAF15_ENST00000592237.1_Missense_Mutation_p.M336I	p.G532*	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	15	1709	+		Ovarian(249;0.17)	532			21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.		D3DPM5|Q15775|Q5T077	Nonsense_Mutation	SNP	ENST00000588240.1	37	c.1594G>T	CCDS32623.1	.	.	.	.	.	.	.	.	.	.	G	36	5.814831	0.96982	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.57	4.57	0.56435	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.2426	15.6468	0.77061	0.0:0.0:1.0:0.0	.	.	.	.	X	532;335	.	ENSP00000309558:G532X	G	+	1	0	TAF15	31196010	0.987000	0.35691	0.991000	0.47740	0.937000	0.57800	1.727000	0.38095	2.462000	0.83206	0.591000	0.81541	GGA		0.617	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1	NM_139215		27	72	1	0	3.73148e-12	1	4.31884e-12	27	72				
ADD2	119	broad.mit.edu	37	2	70919573	70919573	+	Missense_Mutation	SNP	G	G	A	rs372010773		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:70919573G>A	ENST00000264436.4	-	7	1111	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	ADD2_ENST00000355733.3_Missense_Mutation_p.R223C|ADD2_ENST00000413157.2_Missense_Mutation_p.R223C|ADD2_ENST00000430656.1_Missense_Mutation_p.R239C|AC007395.3_ENST00000457851.1_RNA|ADD2_ENST00000407644.2_Missense_Mutation_p.R223C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)	223					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|barbed-end actin filament capping (GO:0051016)|hemopoiesis (GO:0030097)|positive regulation of protein binding (GO:0032092)|protein complex assembly (GO:0006461)	cytoplasmic membrane-bounded vesicle (GO:0016023)|F-actin capping protein complex (GO:0008290)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)	p.R223C(2)		autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						ATGATGCAGCGCACGTCGGGC	0.607																																						ENST00000264436.3																			2	Substitution - Missense(2)	p.R223C(2)	large_intestine(2)	autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						c.(667-669)Cgc>Tgc		adducin 2 (beta)		G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	71.0	62.0	65.0		667,715,667,667,667	4.2	1.0	2		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	ADD2	NM_001185054.1,NM_001185055.1,NM_001617.3,NM_017482.3,NM_017488.3	180,180,180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	223/727,239/576,223/727,223/560,223/644	70919573	1,13005	2203	4300	6503	SO:0001583	missense	119				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding	g.chr2:70919573G>A	X58199	CCDS1906.1, CCDS1909.1, CCDS46318.1, CCDS54365.1	2p13.3	2008-02-05			ENSG00000075340	ENSG00000075340			244	protein-coding gene	gene with protein product		102681				1840603	Standard	NM_001617		Approved	ADDB	uc021vjc.1	P35612	OTTHUMG00000129710	ENST00000264436.4:c.667C>T	2.37:g.70919573G>A	ENSP00000264436:p.Arg223Cys					ADD2_ENST00000355733.3_Missense_Mutation_p.R223C|ADD2_ENST00000430656.1_Missense_Mutation_p.R239C|ADD2_ENST00000407644.2_Missense_Mutation_p.R223C|ADD2_ENST00000413157.2_Missense_Mutation_p.R223C	p.R223C	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN			7	1111	-			223					A8K4P2|B4DM17|D6W5G7|D6W5G8|Q13482|Q16412|Q59G82|Q5U5P4|Q6P0P2|Q6PGQ4|Q7Z688|Q7Z689|Q7Z690|Q7Z691	Missense_Mutation	SNP	ENST00000264436.4	37	c.667C>T	CCDS1906.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353714	0.82243	0.0	1.16E-4	ENSG00000075340	ENST00000264436;ENST00000407644;ENST00000456320;ENST00000355733;ENST00000356565;ENST00000413157;ENST00000430656;ENST00000415348	T;T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72;1.72	5.1	4.18	0.49190	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	M	0.82132	2.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.996;0.969;0.99;0.997	T	0.53479	-0.8433	10	0.87932	D	0	-18.2382	10.9996	0.47598	0.0:0.0:0.6974:0.3026	.	239;223;223;223	B4DM17;P35612-4;P35612;P35612-3	.;.;ADDB_HUMAN;.	C	223;223;223;223;223;223;239;223	ENSP00000264436:R223C;ENSP00000384677:R223C;ENSP00000347972:R223C;ENSP00000388072:R223C;ENSP00000398112:R239C;ENSP00000412357:R223C	ENSP00000264436:R223C	R	-	1	0	ADD2	70773081	0.993000	0.37304	0.999000	0.59377	0.974000	0.67602	1.365000	0.34182	2.636000	0.89361	0.655000	0.94253	CGC		0.607	ADD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251918.4	NM_001617		3	13	0	0	0	1	0	3	13				
MAP4K4	9448	broad.mit.edu	37	2	102476320	102476320	+	Silent	SNP	G	G	T	rs367609543		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:102476320G>T	ENST00000347699.4	+	15	1698	c.1698G>T	c.(1696-1698)gcG>gcT	p.A566A	MAP4K4_ENST00000413150.2_Silent_p.A535A|MAP4K4_ENST00000324219.4_Silent_p.A566A|MAP4K4_ENST00000350878.4_Silent_p.A515A|MAP4K4_ENST00000302217.5_Silent_p.A419A|MAP4K4_ENST00000425019.1_Silent_p.A535A|MAP4K4_ENST00000350198.4_Silent_p.A535A|MAP4K4_ENST00000456652.1_Silent_p.A419A	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	566					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGACCGAGCGCGAGAGGTAT	0.557																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1603-1605)gcG>gcT		mitogen-activated protein kinase kinase kinase kinase 4							20.0	26.0	24.0					2																	102476320		2104	4235	6339	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102476320G>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.1698G>T	2.37:g.102476320G>T						MAP4K4_ENST00000350198.4_Silent_p.A535A|MAP4K4_ENST00000324219.4_Silent_p.A566A|MAP4K4_ENST00000425019.1_Silent_p.A535A|MAP4K4_ENST00000302217.5_Silent_p.A419A|MAP4K4_ENST00000347699.4_Silent_p.A566A|MAP4K4_ENST00000350878.4_Silent_p.A515A|MAP4K4_ENST00000456652.1_Silent_p.A419A	p.A535A	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			15	1660	+			573					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.1605G>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	G	1.087	-0.665322	0.03428	.	.	ENSG00000071054	ENST00000421882	T	0.12879	2.64	6.08	-12.2	0.00006	.	0.295569	0.36482	N	0.002572	T	0.11707	0.0285	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55927	-0.8063	7	0.54805	T	0.06	.	4.2329	0.10611	0.2927:0.217:0.3983:0.092	.	.	.	.	S	306	ENSP00000396066:A306S	ENSP00000396066:A306S	A	+	1	0	MAP4K4	101842752	0.001000	0.12720	0.081000	0.20488	0.169000	0.22640	-2.172000	0.01266	-2.678000	0.00410	-1.482000	0.00985	GCG		0.557	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		4	9	1	0	0.00024832	1	0.000263051	4	9				
ANKDD1A	348094	broad.mit.edu	37	15	65239681	65239681	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr15:65239681G>A	ENST00000380230.3	+	13	1248	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E407K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E375K|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E284K	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	407					signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CCATCGGCAGGAAACACAGCA	0.582																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1219-1221)Gaa>Aaa		ankyrin repeat and death domain containing 1A							51.0	47.0	48.0					15																	65239681		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65239681G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1219G>A	15.37:g.65239681G>A	ENSP00000369579:p.Glu407Lys					ANKDD1A_ENST00000395723.1_Missense_Mutation_p.E284K|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.E407K|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.E375K	p.E407K	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			13	1248	+			407					Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1219G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.962309	0.92791	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	T;T;T;T	0.39406	1.19;1.13;1.21;1.08	4.63	4.63	0.57726	DEATH-like (1);	0.000000	0.64402	D	0.000014	T	0.41743	0.1172	M	0.66297	2.02	0.80722	D	1	P	0.40250	0.709	B	0.36885	0.235	T	0.39313	-0.9620	10	0.29301	T	0.29	-27.8225	16.2408	0.82408	0.0:0.0:1.0:0.0	.	407	Q495B1	AKD1A_HUMAN	K	407;375;407;284	ENSP00000369579:E407K;ENSP00000350329:E375K;ENSP00000379070:E407K;ENSP00000379073:E284K	ENSP00000350329:E375K	E	+	1	0	ANKDD1A	63026734	1.000000	0.71417	0.957000	0.39632	0.994000	0.84299	9.187000	0.94912	2.423000	0.82170	0.655000	0.94253	GAA		0.582	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		5	20	0	0	0	1	0	5	20				
MUC3A	4584	broad.mit.edu	37	7	100549862	100549862	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:100549862C>T	ENST00000379458.4	+	2	443	c.443C>T	c.(442-444)aCg>aTg	p.T148M	MUC3A_ENST00000319509.7_5'Flank|MUC3A_ENST00000483366.1_3'UTR			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated	148	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TGTGTGACCACGACGCAGGTG	0.537																																						ENST00000379458.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						c.(442-444)aCg>aTg		mucin 3A, cell surface associated							139.0	119.0	125.0					7																	100549862		876	1991	2867	SO:0001583	missense	4584							g.chr7:100549862C>T	AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000379458.4:c.443C>T	7.37:g.100549862C>T	ENSP00000368771:p.Thr148Met					MUC3A_ENST00000483366.1_3'UTR	p.148_148insM							2	443	+								O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	Missense_Mutation	SNP	ENST00000379458.4	37	c.443C>T		.	.	.	.	.	.	.	.	.	.	C	12.10	1.835560	0.32421	.	.	ENSG00000228273	ENST00000379458	.	.	.	1.5	-0.638	0.11500	.	.	.	.	.	T	0.25901	0.0631	N	0.19112	0.55	.	.	.	.	.	.	.	.	.	T	0.29610	-1.0006	5	0.49607	T	0.09	.	3.4581	0.07523	0.2449:0.5832:0.0:0.172	.	.	.	.	M	148	.	ENSP00000368771:T148M	T	+	2	0	AC118759.1	100387798	0.000000	0.05858	0.000000	0.03702	0.639000	0.38242	-3.593000	0.00420	-0.225000	0.09913	0.305000	0.20034	ACG		0.537	MUC3A-201	NOVEL	basic|appris_principal	protein_coding	protein_coding		XM_001725354		5	62	0	0	0	1	0	5	62				
C2orf88	84281	broad.mit.edu	37	2	191064798	191064798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:191064798G>A	ENST00000340623.4	+	2	623	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	C2orf88_ENST00000409870.1_Missense_Mutation_p.C71Y|C2orf88_ENST00000443551.2_Missense_Mutation_p.C71Y|C2orf88_ENST00000396974.2_Missense_Mutation_p.C71Y	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	71	PKA-RI-binding.					plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GATATCTTGTGTGATGCCTTG	0.463																																						ENST00000340623.4																			0				kidney(1)|large_intestine(1)|lung(1)	3						c.(211-213)tGt>tAt		chromosome 2 open reading frame 88							195.0	192.0	193.0					2																	191064798		2018	4183	6201	SO:0001583	missense	84281							g.chr2:191064798G>A	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.212G>A	2.37:g.191064798G>A	ENSP00000345107:p.Cys71Tyr					C2orf88_ENST00000409870.1_Missense_Mutation_p.C71Y|C2orf88_ENST00000396974.2_Missense_Mutation_p.C71Y|C2orf88_ENST00000443551.2_Missense_Mutation_p.C71Y	p.C71Y	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN			2	623	+			71					D3DPI3|P0C876|Q53TC7	Missense_Mutation	SNP	ENST00000340623.4	37	c.212G>A	CCDS42792.1	.	.	.	.	.	.	.	.	.	.	G	6.787	0.514131	0.12944	.	.	ENSG00000187699	ENST00000396974;ENST00000409870;ENST00000340623;ENST00000443551	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	5.45	-0.838	0.10762	.	1.577390	0.04385	U	0.361516	T	0.24851	0.0603	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13442	-1.0509	8	.	.	.	-14.3229	5.2491	0.15512	0.5633:0.2854:0.1512:0.0	.	71	Q9BSF0	CB088_HUMAN	Y	71	ENSP00000380172:C71Y;ENSP00000386649:C71Y;ENSP00000345107:C71Y;ENSP00000405225:C71Y	.	C	+	2	0	C2orf88	190773043	0.205000	0.23458	0.002000	0.10522	0.221000	0.24807	0.058000	0.14301	-0.261000	0.09405	-0.142000	0.14014	TGT		0.463	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	NM_032321		15	126	0	0	0	1	0	15	126				
MEI1	150365	broad.mit.edu	37	22	42190404	42190404	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr22:42190404C>T	ENST00000401548.3	+	28	3497	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W	MEI1_ENST00000300398.4_Missense_Mutation_p.R161W|MEI1_ENST00000400107.1_Missense_Mutation_p.R486W|MEI1_ENST00000476893.1_3'UTR	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCTTGGAATCGGTTTTTGCT	0.493																																						ENST00000401548.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(3457-3459)Cgg>Tgg		meiosis inhibitor 1							224.0	215.0	218.0					22																	42190404		1925	4148	6073	SO:0001583	missense	150365						binding	g.chr22:42190404C>T	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3457C>T	22.37:g.42190404C>T	ENSP00000384115:p.Arg1153Trp					MEI1_ENST00000400107.1_Missense_Mutation_p.R486W|MEI1_ENST00000300398.4_Missense_Mutation_p.R161W|MEI1_ENST00000476893.1_3'UTR	p.R1153W	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN			28	3497	+			1153						Missense_Mutation	SNP	ENST00000401548.3	37	c.3457C>T	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852341	0.91355	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51	5.53	4.5	0.54988	.	0.143965	0.47093	D	0.000245	T	0.80649	0.4663	L	0.59436	1.845	0.40906	D	0.984191	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.966;0.999;0.999;0.999;0.999	T	0.82894	-0.0231	10	0.87932	D	0	-4.9483	12.7412	0.57253	0.1647:0.8353:0.0:0.0	.	486;263;396;521;1153	Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;MEI1_HUMAN	W	1153;486;161;263;161	ENSP00000384115:R1153W;ENSP00000382978:R486W;ENSP00000300398:R161W;ENSP00000385298:R161W	ENSP00000300398:R161W	R	+	1	2	MEI1	40520350	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.510000	0.45468	1.311000	0.45024	0.491000	0.48974	CGG		0.493	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		9	112	0	0	0	1	0	9	112				
COG2	22796	broad.mit.edu	37	1	230822855	230822855	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:230822855G>T	ENST00000366669.4	+	13	1670	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	COG2_ENST00000534989.1_Missense_Mutation_p.D460Y|COG2_ENST00000546013.1_Missense_Mutation_p.D208Y|COG2_ENST00000366668.3_Missense_Mutation_p.D519Y|COG2_ENST00000535166.1_Missense_Mutation_p.D403Y	NM_001145036.1|NM_007357.2	NP_001138508.1|NP_031383.1	Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	519					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|Golgi transport complex (GO:0017119)	protein transporter activity (GO:0008565)			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGTGGTTGCAGACCTGGACAA	0.473																																						ENST00000534989.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27						c.(1378-1380)Gac>Tac		component of oligomeric golgi complex 2							79.0	67.0	71.0					1																	230822855		2203	4300	6503	SO:0001583	missense	22796				Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity	g.chr1:230822855G>T	Z34975	CCDS1584.1, CCDS44329.1	1q42.2	2008-02-05	2002-05-28	2002-05-31	ENSG00000135775	ENSG00000135775		"""Components of oligomeric golgi complex"""	6546	protein-coding gene	gene with protein product		606974	"""low density lipoprotein receptor defect C complementing"""	LDLC		7962052	Standard	NM_007357		Approved		uc001htw.3	Q14746	OTTHUMG00000037753	ENST00000366669.4:c.1555G>T	1.37:g.230822855G>T	ENSP00000355629:p.Asp519Tyr					COG2_ENST00000366669.4_Missense_Mutation_p.D519Y|COG2_ENST00000366668.3_Missense_Mutation_p.D519Y|COG2_ENST00000535166.1_Missense_Mutation_p.D403Y|COG2_ENST00000546013.1_Missense_Mutation_p.D208Y	p.D460Y			Q14746	COG2_HUMAN			13	1713	+	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	519					Q86U99	Missense_Mutation	SNP	ENST00000366669.4	37	c.1378G>T	CCDS1584.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.924825	0.73213	.	.	ENSG00000135775	ENST00000366669;ENST00000535166;ENST00000366668;ENST00000534989;ENST00000546013	T;T;T;T;T	0.74632	0.16;0.06;0.42;0.24;-0.86	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.89040	0.6602	M	0.89601	3.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90902	0.4769	10	0.87932	D	0	-25.9448	17.793	0.88561	0.0:0.0:1.0:0.0	.	519;519	Q86U99;Q14746	.;COG2_HUMAN	Y	519;403;519;460;208	ENSP00000355629:D519Y;ENSP00000445724:D403Y;ENSP00000355628:D519Y;ENSP00000440349:D460Y;ENSP00000442147:D208Y	ENSP00000355628:D519Y	D	+	1	0	COG2	228889478	1.000000	0.71417	0.983000	0.44433	0.663000	0.39108	7.278000	0.78587	2.623000	0.88846	0.655000	0.94253	GAC		0.473	COG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092087.1	NM_007357		14	34	1	0	1.52009e-12	1	1.77581e-12	14	34				
CACNA1G	8913	broad.mit.edu	37	17	48685231	48685231	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48685231C>T	ENST00000359106.5	+	25	4556	c.4556C>T	c.(4555-4557)tCg>tTg	p.S1519L	CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1496L|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1496L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1496L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1519L	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1519					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TACTTCATCTCGTTCCTGCTC	0.577																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(4486-4488)tCg>tTg		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						189.0	186.0	187.0					17																	48685231		2131	4233	6364	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48685231C>T	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4556C>T	17.37:g.48685231C>T	ENSP00000352011:p.Ser1519Leu					CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1496L|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1496L|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1519L|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1496L|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1519L|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1519L|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1496L|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1519L	p.S1496L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		24	4859	+	Breast(11;6.7e-17)		1519					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.4487C>T	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	28.5	4.928209	0.92389	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000507510;ENST00000507336;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	4.77	4.77	0.60923	Ion transport (1);	0.061299	0.64402	D	0.000002	D	0.97829	0.9287	L	0.28694	0.88	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;0.999;1.0;0.995;0.992;0.97;0.999;0.999;0.999;0.996;0.735;0.999;1.0;1.0;0.994;0.995;1.0;1.0	D;D;D;D;D;D;P;D;D;D;D;D;P;D;D;D;P;D;D;D	0.87578	0.995;0.997;0.995;0.978;0.987;0.94;0.773;0.947;0.975;0.998;0.943;0.923;0.487;0.975;0.987;0.993;0.89;0.954;0.998;0.997	D	0.97317	0.9941	10	0.22706	T	0.39	.	17.7949	0.88567	0.0:1.0:0.0:0.0	.	1519;1519;1519;1519;1519;1519;1496;1519;1519;1519;1519;1519;1496;1519;1496;1496;1496;1496;1519;1496	Q19R07;Q19R10;Q19QZ6;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	L	1496;1496;1496;1496;1496;1519;1519;1519;1519;1496;1519;1519;1519;1519;1496;1519;1519;1519;1519;1519	ENSP00000353990:S1496L;ENSP00000339302:S1496L;ENSP00000347078:S1496L;ENSP00000409759:S1496L;ENSP00000425522:S1496L;ENSP00000426261:S1519L;ENSP00000423112:S1519L;ENSP00000420918:S1519L;ENSP00000423045:S1519L;ENSP00000427173:S1496L;ENSP00000426098:S1519L;ENSP00000425698:S1519L;ENSP00000426232:S1519L;ENSP00000423317:S1519L;ENSP00000350979:S1496L;ENSP00000352011:S1519L;ENSP00000414388:S1519L;ENSP00000423155:S1519L;ENSP00000422268:S1519L;ENSP00000421518:S1519L	ENSP00000339302:S1496L	S	+	2	0	CACNA1G	46040230	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.206000	0.71126	0.561000	0.74099	TCG		0.577	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		20	49	0	0	0	1	0	20	49				
SLC39A12	221074	broad.mit.edu	37	10	18276411	18276411	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:18276411A>T	ENST00000377369.2	+	7	1373	c.1100A>T	c.(1099-1101)tAc>tTc	p.Y367F	SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y367F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y233F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y367F	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	367					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GACTTAGAATACGGCTACAGC	0.527																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1099-1101)tAc>tTc		solute carrier family 39 (zinc transporter), member 12							94.0	68.0	77.0					10																	18276411		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276411A>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1100A>T	10.37:g.18276411A>T	ENSP00000366586:p.Tyr367Phe					SLC39A12_ENST00000539911.1_Missense_Mutation_p.Y233F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.Y367F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.Y367F	p.Y367F	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1373	+			367					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1100A>T	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.563703	0.86335	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.66280	-0.01;-0.2;-0.01;-0.07	5.84	4.68	0.58851	.	0.489229	0.24818	N	0.035347	T	0.73125	0.3547	L	0.51853	1.615	0.58432	D	0.999996	D;P;D	0.89917	1.0;0.95;1.0	D;P;D	0.91635	0.999;0.906;0.999	T	0.73751	-0.3884	10	0.62326	D	0.03	-15.021	12.2601	0.54645	0.8726:0.0:0.0:0.1274	.	367;367;367	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	F	367;367;367;233;287	ENSP00000366586:Y367F;ENSP00000366591:Y367F;ENSP00000366588:Y367F;ENSP00000440445:Y233F	ENSP00000366586:Y367F	Y	+	2	0	SLC39A12	18316417	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	6.809000	0.75211	1.014000	0.39417	0.533000	0.62120	TAC		0.527	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		17	43	0	0	0	1	0	17	43				
DUSP5	1847	broad.mit.edu	37	10	112266802	112266802	+	Missense_Mutation	SNP	G	G	A	rs374689886		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr10:112266802G>A	ENST00000369583.3	+	3	922	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	213	Tyrosine-protein phosphatase.				endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AATGTCTCCCGACGGACCTCC	0.547																																						ENST00000369583.3																			0				kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13						c.(637-639)cGa>cAa		dual specificity phosphatase 5		G	GLN/ARG	0,4406		0,0,2203	192.0	189.0	190.0		638	4.7	1.0	10		190	1,8599	1.2+/-3.3	0,1,4299	no	missense	DUSP5	NM_004419.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	213/385	112266802	1,13005	2203	4300	6503	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112266802G>A	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.638G>A	10.37:g.112266802G>A	ENSP00000358596:p.Arg213Gln					DUSP5_ENST00000468749.1_3'UTR	p.R213Q	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	3	922	+		Breast(234;0.0848)	213			Tyrosine-protein phosphatase.		Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.638G>A	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	G	33	5.225490	0.95173	0.0	1.16E-4	ENSG00000138166	ENST00000369583	D	0.85629	-2.01	5.63	4.73	0.59995	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.048171	0.85682	N	0.000000	D	0.86648	0.5983	L	0.37897	1.145	0.80722	D	1	D	0.89917	1.0	P	0.60117	0.869	D	0.86854	0.2025	10	0.49607	T	0.09	.	13.8002	0.63194	0.0735:0.0:0.9265:0.0	.	213	Q16690	DUS5_HUMAN	Q	213	ENSP00000358596:R213Q	ENSP00000358596:R213Q	R	+	2	0	DUSP5	112256792	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.608000	0.74168	1.391000	0.46566	-0.150000	0.13652	CGA		0.547	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		18	226	0	0	0	1	0	18	226				
LRRC37B	114659	broad.mit.edu	37	17	30349045	30349045	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:30349045G>T	ENST00000341671.7	+	1	885	c.880G>T	c.(880-882)Gag>Tag	p.E294*	LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E294*|LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E212*|LRRC37B_ENST00000327564.7_Nonsense_Mutation_p.E321*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E306*	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	294						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GCTCCCTCAGGAGGTAGAACC	0.527																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(961-963)Gag>Tag		leucine rich repeat containing 37B							47.0	57.0	53.0					17																	30349045		2202	4299	6501	SO:0001587	stop_gained	114659					integral to membrane		g.chr17:30349045G>T	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.880G>T	17.37:g.30349045G>T	ENSP00000340519:p.Glu294*					LRRC37B_ENST00000543378.2_Nonsense_Mutation_p.E212*|LRRC37B_ENST00000394713.3_Nonsense_Mutation_p.E294*|LRRC37B_ENST00000584368.1_Nonsense_Mutation_p.E306*|LRRC37B_ENST00000341671.7_Nonsense_Mutation_p.E294*	p.E321*			Q96QE4	LR37B_HUMAN			1	1022	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	294					Q17RC9|Q5YKG6	Nonsense_Mutation	SNP	ENST00000341671.7	37	c.961G>T	CCDS32609.1	.	.	.	.	.	.	.	.	.	.	N	15.47	2.843764	0.51164	.	.	ENSG00000185158	ENST00000543378;ENST00000327564;ENST00000394713;ENST00000341671	.	.	.	1.87	1.87	0.25490	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	7.2628	0.26214	0.0:0.0:1.0:0.0	.	.	.	.	X	212;321;294;294	.	ENSP00000332536:E321X	E	+	1	0	LRRC37B	27373158	0.001000	0.12720	0.004000	0.12327	0.065000	0.16274	0.571000	0.23669	1.351000	0.45789	0.186000	0.17326	GAG		0.527	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		25	64	1	0	1.42536e-11	1	1.63458e-11	25	64				
OBP2A	29991	broad.mit.edu	37	9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr9:138439759C>T	ENST00000539850.1	+	4	346	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M|OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000342114.4_Silent_p.D62D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	107					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607																																						ENST00000539850.1																			0				endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(319-321)aCg>aTg		odorant binding protein 2A							60.0	53.0	55.0					9																	138439759		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439759C>T	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.320C>T	9.37:g.138439759C>T	ENSP00000441028:p.Thr107Met					OBP2A_ENST00000342114.4_Silent_p.D62D|OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M	p.T107M			Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	4	346	+			107					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.320C>T	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	c	8.338	0.828034	0.16749	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	T;T;T	0.11930	2.73;3.08;3.08	2.25	-4.51	0.03483	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.069230	0.02253	N	0.066788	T	0.07234	0.0183	N	0.02539	-0.55	0.09310	N	1	D;B	0.53885	0.963;0.02	P;B	0.49597	0.616;0.013	T	0.05225	-1.0898	10	0.59425	D	0.04	-14.9456	1.3977	0.02264	0.2534:0.1765:0.3975:0.1725	.	107;107	Q5T8A5;Q9NY56	.;OBP2A_HUMAN	M	107	ENSP00000342097:T107M;ENSP00000360841:T107M;ENSP00000441028:T107M	ENSP00000342097:T107M	T	+	2	0	OBP2A	137579580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.871000	0.04223	-1.791000	0.01261	-1.765000	0.00666	ACG		0.607	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		6	35	0	0	0	1	0	6	35				
PDGFD	80310	broad.mit.edu	37	11	103780431	103780431	+	Silent	SNP	T	T	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr11:103780431T>A	ENST00000393158.2	-	7	1283	c.1104A>T	c.(1102-1104)ccA>ccT	p.P368P	PDGFD_ENST00000302251.5_Silent_p.P362P			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	368					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CTTATCGAGGTGGTCTTGAGC	0.458																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(1084-1086)ccA>ccT		platelet derived growth factor D							298.0	246.0	264.0					11																	103780431		2202	4299	6501	SO:0001819	synonymous_variant	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780431T>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1104A>T	11.37:g.103780431T>A						PDGFD_ENST00000393158.2_Silent_p.P368P	p.P362P	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1537	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	368					A8K9T6|Q9BWV5	Silent	SNP	ENST00000393158.2	37	c.1086A>T	CCDS41703.1																																																																																				0.458	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		5	94	0	0	0	1	0	5	94				
ZIC4	84107	broad.mit.edu	37	3	147108953	147108953	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr3:147108953C>T	ENST00000383075.3	-	4	1281	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000491672.1_Missense_Mutation_p.V51M|ZIC4_ENST00000425731.3_Missense_Mutation_p.V295M|ZIC4_ENST00000473123.1_Missense_Mutation_p.V257M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V307M|ZIC4_ENST00000484399.1_Missense_Mutation_p.V257M	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	257						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CTAGTGTGCACGTGCGAATGC	0.632																																						ENST00000383075.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						c.(769-771)Gtg>Atg		Zic family member 4							38.0	42.0	40.0					3																	147108953		2201	4300	6501	SO:0001583	missense	84107					nucleus	DNA binding|zinc ion binding	g.chr3:147108953C>T	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.769G>A	3.37:g.147108953C>T	ENSP00000372553:p.Val257Met					ZIC4_ENST00000473123.1_Missense_Mutation_p.V257M|ZIC4_ENST00000525172.2_Missense_Mutation_p.V307M|ZIC4_ENST00000425731.3_Missense_Mutation_p.V295M|ZIC4_ENST00000491672.1_Missense_Mutation_p.V51M|ZIC4_ENST00000484399.1_Missense_Mutation_p.V257M|ZIC4_ENST00000472749.2_5'UTR	p.V257M	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN			4	1281	-			257					A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	Missense_Mutation	SNP	ENST00000383075.3	37	c.769G>A	CCDS43160.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683788	0.88639	.	.	ENSG00000174963	ENST00000383075;ENST00000425731;ENST00000525172;ENST00000484399;ENST00000473123;ENST00000491672	T;T;T;T;T;T	0.16324	3.13;2.35;2.35;3.13;3.13;3.13	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.41500	D	0.000875	T	0.32496	0.0831	L	0.31526	0.94	0.48236	D	0.999619	D;D	0.89917	0.963;1.0	P;D	0.91635	0.798;0.999	T	0.24764	-1.0151	9	0.87932	D	0	.	18.1785	0.89769	0.0:1.0:0.0:0.0	.	307;257	B7Z2L2;Q8N9L1	.;ZIC4_HUMAN	M	257;295;307;257;257;51	ENSP00000372553:V257M;ENSP00000397695:V295M;ENSP00000435509:V307M;ENSP00000417855:V257M;ENSP00000420775:V257M;ENSP00000418277:V51M	ENSP00000372553:V257M	V	-	1	0	ZIC4	148591643	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.010000	0.70753	2.277000	0.76020	0.462000	0.41574	GTG		0.632	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355504.1			4	36	0	0	0	1	0	4	36				
MYCBPAP	84073	broad.mit.edu	37	17	48594771	48594771	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:48594771C>G	ENST00000323776.5	+	3	613	c.451C>G	c.(451-453)Cct>Gct	p.P151A	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P114A	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			TGTAGCACGTCCTGCGAATCC	0.493																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(451-453)Cct>Gct		MYCBP associated protein							132.0	129.0	130.0					17																	48594771		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48594771C>G	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.451C>G	17.37:g.48594771C>G	ENSP00000323184:p.Pro151Ala					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.P114A	p.P151A	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		3	613	+	Breast(11;1.23e-18)		114						Missense_Mutation	SNP	ENST00000323776.5	37	c.451C>G	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123640	0.37436	.	.	ENSG00000136449	ENST00000323776;ENST00000452039;ENST00000436259	T;T	0.37584	1.19;1.22	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.60637	0.2284	M	0.80847	2.515	0.43622	D	0.996009	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	T	0.66468	-0.5916	10	0.87932	D	0	-7.5551	12.686	0.56948	0.0:0.9228:0.0:0.0772	.	114;151	Q8TBZ2;B4DZQ1	MYBPP_HUMAN;.	A	151;151;114	ENSP00000323184:P151A;ENSP00000397209:P114A	ENSP00000323184:P151A	P	+	1	0	MYCBPAP	45949770	0.898000	0.30612	0.713000	0.30519	0.006000	0.05464	3.110000	0.50352	1.428000	0.47296	0.558000	0.71614	CCT		0.493	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		27	90	0	0	0	1	0	27	90				
LRRTM1	347730	broad.mit.edu	37	2	80530154	80530154	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr2:80530154G>A	ENST00000295057.3	-	2	1447	c.791C>T	c.(790-792)tCg>tTg	p.S264L	CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S264L|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000402739.4_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	264					exploration behavior (GO:0035640)|locomotory behavior (GO:0007626)|long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|protein localization to synapse (GO:0035418)|synapse organization (GO:0050808)	axon (GO:0030424)|cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTCGTTGCCCGACAAGTCCAT	0.607										HNSCC(69;0.2)																												ENST00000295057.3																			0				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						c.(790-792)tCg>tTg		leucine rich repeat transmembrane neuronal 1							79.0	77.0	78.0					2																	80530154		2203	4300	6503	SO:0001583	missense	347730					axon|endoplasmic reticulum membrane|growth cone|integral to membrane		g.chr2:80530154G>A	AY358310	CCDS1966.1	2p12	2004-06-22			ENSG00000162951	ENSG00000162951			19408	protein-coding gene	gene with protein product		610867				12676565	Standard	XR_244930		Approved	FLJ32082	uc002sok.1	Q86UE6	OTTHUMG00000130021	ENST00000295057.3:c.791C>T	2.37:g.80530154G>A	ENSP00000295057:p.Ser264Leu	HNSCC(69;0.2)				CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000402739.4_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.S264L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000541047.1_Intron	p.S264L	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN			2	1447	-			264					A8K397|D6W5K1|Q96DN1	Missense_Mutation	SNP	ENST00000295057.3	37	c.791C>T	CCDS1966.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164428	0.78339	.	.	ENSG00000162951	ENST00000295057;ENST00000409148	T;T	0.60672	0.17;0.17	5.26	5.26	0.73747	.	0.000000	0.85682	U	0.000000	T	0.80581	0.4650	M	0.90814	3.15	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.84572	0.0656	9	.	.	.	.	18.8459	0.92205	0.0:0.0:1.0:0.0	.	264	Q86UE6	LRRT1_HUMAN	L	264	ENSP00000295057:S264L;ENSP00000386646:S264L	.	S	-	2	0	LRRTM1	80383665	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.864000	0.99589	2.416000	0.81992	0.655000	0.94253	TCG		0.607	LRRTM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313614.1	NM_178839		3	51	0	0	0	1	0	3	51				
PPARGC1B	133522	broad.mit.edu	37	5	149225445	149225445	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:149225445G>A	ENST00000309241.5	+	11	2971	c.2939G>A	c.(2938-2940)cGg>cAg	p.R980Q	PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R941Q|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R916Q|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R980Q	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	980					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGGGCTCCGGCACTTCTGC	0.587																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2938-2940)cGg>cAg		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							45.0	44.0	45.0					5																	149225445		2203	4300	6503	SO:0001583	missense	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149225445G>A	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2939G>A	5.37:g.149225445G>A	ENSP00000312649:p.Arg980Gln					PPARGC1B_ENST00000403750.1_Missense_Mutation_p.R916Q|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.R980Q|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.R941Q	p.R980Q	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		11	2971	+			980					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	ENST00000309241.5	37	c.2939G>A	CCDS4298.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660460	0.47572	.	.	ENSG00000155846	ENST00000360453;ENST00000394320;ENST00000309241;ENST00000403750	T;T;T;T	0.13538	2.59;2.7;2.6;2.58	5.28	-2.04	0.07343	.	0.496470	0.20063	N	0.100038	T	0.14485	0.0350	M	0.79123	2.44	0.33785	D	0.624724	B;B;B;B;B	0.21225	0.053;0.02;0.053;0.032;0.037	B;B;B;B;B	0.21708	0.036;0.022;0.022;0.01;0.016	T	0.04333	-1.0959	10	0.42905	T	0.14	-6.5727	6.3689	0.21471	0.3974:0.1163:0.4863:0.0	.	959;959;941;980;980	Q86YN6-2;Q86YN6-4;Q86YN6-5;Q86YN6;Q86YN6-3	.;.;.;PRGC2_HUMAN;.	Q	941;980;980;916	ENSP00000353638:R941Q;ENSP00000377855:R980Q;ENSP00000312649:R980Q;ENSP00000384403:R916Q	ENSP00000312649:R980Q	R	+	2	0	PPARGC1B	149205638	1.000000	0.71417	0.465000	0.27155	0.934000	0.57294	1.537000	0.36083	-0.679000	0.05217	0.561000	0.74099	CGG		0.587	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	66	0	0	0	1	0	8	66				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	47	0	0	0	1	0	4	47				
KPNA6	23633	broad.mit.edu	37	1	32622463	32622463	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:32622463C>T	ENST00000373625.3	+	3	241	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	KPNA6_ENST00000537234.1_Missense_Mutation_p.R47W|KPNA6_ENST00000545542.1_Missense_Mutation_p.R55W|KPNA6_ENST00000469790.1_3'UTR	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	50	IBB. {ECO:0000255|PROSITE- ProRule:PRU00561}.				maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GCTTTTTAAACGGAGAAATGT	0.408																																						ENST00000373625.3																			0				large_intestine(2)	2						c.(148-150)Cgg>Tgg		karyopherin alpha 6 (importin alpha 7)							137.0	135.0	136.0					1																	32622463		2203	4300	6503	SO:0001583	missense	23633				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding	g.chr1:32622463C>T	AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.148C>T	1.37:g.32622463C>T	ENSP00000362728:p.Arg50Trp					KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000537234.1_Missense_Mutation_p.R47W|KPNA6_ENST00000545542.1_Missense_Mutation_p.R55W	p.R50W	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN			3	241	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	50			IBB.		B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	ENST00000373625.3	37	c.148C>T	CCDS352.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936414	0.73442	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.56941	0.43;0.43;0.43;1.75	5.39	-0.473	0.12112	Importin-alpha, importin-beta-binding domain (2);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75831	0.3903	H	0.94698	3.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.78856	-0.2039	10	0.87932	D	0	-13.0507	10.8623	0.46833	0.5248:0.4066:0.0:0.0686	.	55;50	F5GYL8;O60684	.;IMA7_HUMAN	W	50;24;47;55;1	ENSP00000362728:R50W;ENSP00000444930:R47W;ENSP00000440609:R55W;ENSP00000415677:R1W	ENSP00000362719:R24W	R	+	1	2	KPNA6	32395050	0.998000	0.40836	0.997000	0.53966	0.997000	0.91878	0.710000	0.25748	0.029000	0.15352	0.655000	0.94253	CGG		0.408	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000012527.4	NM_012316		6	44	0	0	0	1	0	6	44				
PTPRF	5792	broad.mit.edu	37	1	44085815	44085815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr1:44085815G>A	ENST00000359947.4	+	30	5501	c.5161G>A	c.(5161-5163)Gag>Aag	p.E1721K	PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1721	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.E1711Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGAGAGCACCGAGGACTTCTG	0.592																																						ENST00000359947.4																			1	Substitution - Missense(1)	p.E1711Q(1)	ovary(1)	NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(5161-5163)Gag>Aag		protein tyrosine phosphatase, receptor type, F							110.0	105.0	106.0					1																	44085815		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44085815G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5161G>A	1.37:g.44085815G>A	ENSP00000353030:p.Glu1721Lys					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.E1080K|PTPRF_ENST00000438120.1_Missense_Mutation_p.E1712K|PTPRF_ENST00000372413.3_Missense_Mutation_p.E1712K|PTPRF_ENST00000372414.3_Missense_Mutation_p.E1721K	p.E1721K	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			30	5501	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1721			Tyrosine-protein phosphatase 2.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.5161G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.0|23.0	4.358865|4.358865	0.82353|0.82353	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.	0.84660|.	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88|.	4.97|4.97	4.97|4.97	0.65823|0.65823	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.	0.000000|.	0.34750|.	N|.	0.003714|.	T|T	0.74809|0.74809	0.3765|0.3765	M|M	0.68317|0.68317	2.08|2.08	0.80722|0.80722	D|D	1|1	P;P;D;D;D|.	0.89917|.	0.563;0.842;0.969;0.999;1.0|.	B;B;P;D;D|.	0.87578|.	0.092;0.438;0.656;0.982;0.998|.	T|T	0.73385|0.73385	-0.3999|-0.3999	10|5	0.30854|.	T|.	0.27|.	.|.	19.129|19.129	0.93397|0.93397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1366;1080;1298;1712;1721|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.	.;.;.;.;PTPRF_HUMAN|.	K|Q	1721;1712;1721;1712;1080;793|1104;1145	ENSP00000353030:E1721K;ENSP00000398822:E1712K;ENSP00000361491:E1721K;ENSP00000361490:E1712K;ENSP00000387885:E1080K;ENSP00000361484:E793K|.	ENSP00000353030:E1721K|.	E|R	+|+	1|2	0|0	PTPRF|PTPRF	43858402|43858402	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.807000|9.807000	0.99171|0.99171	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GAG|CGA		0.592	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			4	101	0	0	0	1	0	4	101				
MAN2B2	23324	broad.mit.edu	37	4	6576961	6576961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:6576961delG	ENST00000285599.3	+	1	60	c.24delG	c.(22-24)ccgfs	p.P8fs	MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.P8fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	8					mannose metabolic process (GO:0006013)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GCTGGCTGCCGCTGCTGGCAC	0.771																																						ENST00000285599.3																			0				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						c.(22-24)ccfs		mannosidase, alpha, class 2B, member 2							4.0	4.0	4.0					4																	6576961		1888	3777	5665	SO:0001589	frameshift_variant	23324				mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	g.chr4:6576961delG	BC033307	CCDS33951.1	4p16.2	2005-11-09			ENSG00000013288	ENSG00000013288			29623	protein-coding gene	gene with protein product	"""core-specific lysosomal alpha-1,6-Mannosidase"""					10231032, 16115860	Standard	XR_241647		Approved	KIAA0935	uc003gjf.1	Q9Y2E5	OTTHUMG00000160073	ENST00000285599.3:c.24delG	4.37:g.6576961delG	ENSP00000285599:p.Pro8fs					MAN2B2_ENST00000504248.1_Frame_Shift_Del_p.P8fs	p.P8fs	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN			1	60	+			8					Q66MP2|Q86T67	Frame_Shift_Del	DEL	ENST00000285599.3	37	c.24delG	CCDS33951.1																																																																																				0.771	MAN2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359106.2	NM_015274		2	4						2	4	---	---	---	---
FBXW7	55294	broad.mit.edu	37	4	153250891	153250910	+	Frame_Shift_Del	DEL	CAAAACTGTAAGCATGTGAT	CAAAACTGTAAGCATGTGAT	-			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr4:153250891_153250910delCAAAACTGTAAGCATGTGAT	ENST00000281708.4	-	8	2379_2398	c.1150_1169delATCACATGCTTACAGTTTTG	c.(1150-1170)atcacatgcttacagttttgtfs	p.ITCLQFC384fs	FBXW7_ENST00000603548.1_Frame_Shift_Del_p.ITCLQFC384fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.ITCLQFC384fs|FBXW7_ENST00000296555.5_Frame_Shift_Del_p.ITCLQFC266fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.ITCLQFC208fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.ITCLQFC304fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	384					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.C386W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCGGTTACCACAAAACTGTAAGCATGTGATCACATGATCA	0.341			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		2	Substitution - Missense(1)|Unknown(1)	p.C386W(1)|p.?(1)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1150-1170)tfs		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153250891_153250910delCAAAACTGTAAGCATGTGAT	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1150_1169delATCACATGCTTACAGTTTTG	4.37:g.153250891_153250910delCAAAACTGTAAGCATGTGAT	ENSP00000281708:p.Ile384fs					FBXW7_ENST00000296555.5_Frame_Shift_Del_p.ITCLQFC266fs|FBXW7_ENST00000393956.3_Frame_Shift_Del_p.ITCLQFC208fs|FBXW7_ENST00000603841.1_Frame_Shift_Del_p.ITCLQFC384fs|FBXW7_ENST00000263981.5_Frame_Shift_Del_p.ITCLQFC304fs|FBXW7_ENST00000603548.1_Frame_Shift_Del_p.ITCLQFC384fs	p.ITCLQFC384fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			8	2379_2398	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	384					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Del	DEL	ENST00000281708.4	37	c.1150_1169delATCACATGCTTACAGTTTTG	CCDS3777.1																																																																																				0.341	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			7	60						7	60	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	lincRNA	INS	-	-	A	rs1815381|rs57699261		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718																																						ENST00000412295.2																			0																																																			0							g.chr5:180708697_180708698insA																													5.37:g.180708697_180708698insA														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.718	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	6						4	6	---	---	---	---
AC118138.2	0	broad.mit.edu	37	7	74776112	74776113	+	RNA	INS	-	-	A			TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr7:74776112_74776113insA	ENST00000420642.1	+	0	554																											aaaaacaaaacaaaaaaaaaac	0.401																																						ENST00000420642.1																			0																																																			0							g.chr7:74776112_74776113insA																													7.37:g.74776122_74776122dupA														0	554	+									RNA	INS	ENST00000420642.1	37																																																																																						0.401	AC118138.2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345504.2			2	4						2	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578495	7578496	+	Frame_Shift_Ins	INS	-	-	A	rs587782197		TCGA-CV-A6JY-01A-11D-A31L-08	TCGA-CV-A6JY-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc972089-74cb-4561-b4a9-bbc7032e2fdb	7c0de9dc-a327-4fe5-9bc4-c318184029d0	g.chr17:7578495_7578496insA	ENST00000269305.4	-	5	623_624	c.434_435insT	c.(433-435)ctgfs	p.L145fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L145fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.L145fs	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	145	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.L145L(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.L145del(1)|p.V143_S149del(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)	AATCAACCCACAGCTGCACAGG	0.604		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"""		62	Substitution - Missense(41)|Whole gene deletion(8)|Deletion - In frame(4)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Insertion - Frameshift(1)	p.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.L145L(4)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.L145del(1)|p.V143_S149del(1)	breast(11)|ovary(9)|large_intestine(8)|central_nervous_system(5)|oesophagus(4)|bone(4)|stomach(3)|haematopoietic_and_lymphoid_tissue(3)|lung(3)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|liver(2)|biliary_tract(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(433-435)ctgfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7578495_7578496insA	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.435dupT	17.37:g.7578496_7578496dupA	ENSP00000269305:p.Leu145fs	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_Frame_Shift_Ins_p.L145fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.L145fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.L145fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.L145fs	p.L145fs	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	566_567	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	145		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.434_435insT	CCDS11118.1																																																																																				0.604	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		22	35						22	35	---	---	---	---
