#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFHR2	3080	broad.mit.edu	37	1	196928040	196928040	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr1:196928040G>T	ENST00000367415.5	+	5	743	c.643G>T	c.(643-645)Gaa>Taa	p.E215*	CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*|CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	215	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						AGAAATTATGGAAAAATATAA	0.284																																						ENST00000367415.5																			0				large_intestine(2)|ovary(1)|skin(3)	6						c.(643-645)Gaa>Taa		complement factor H-related 2							35.0	37.0	36.0					1																	196928040		2180	4278	6458	SO:0001587	stop_gained	3080					extracellular region		g.chr1:196928040G>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367415.5:c.643G>T	1.37:g.196928040G>T	ENSP00000356385:p.Glu215*					CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215*	p.E215*	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN			5	743	+						Sushi 4.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367415.5	37	c.643G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	8.833	0.940290	0.18281	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	.	.	.	3.2	-0.313	0.12754	.	0.716365	0.11454	N	0.562462	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	7.0532	0.25085	0.3807:0.0:0.6193:0.0	.	.	.	.	X	215	.	ENSP00000356385:E215X	E	+	1	0	CFHR2	195194663	0.060000	0.20803	0.002000	0.10522	0.014000	0.08584	-0.332000	0.07904	-0.187000	0.10516	0.543000	0.68304	GAA		0.284	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		9	45	9	45	---	---	---	---
FGB	2244	broad.mit.edu	37	4	155490938	155490938	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr4:155490938G>T	ENST00000302068.4	+	7	1294	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	FGB_ENST00000502545.1_Intron|FGB_ENST00000509493.1_Missense_Mutation_p.D192Y	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	411	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTATGACAGAGACAATGACGG	0.428																																					NSCLC(106;1133 1613 21870 46110 52656)	ENST00000302068.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(1231-1233)Gac>Tac		fibrinogen beta chain	Sucralfate(DB00364)						147.0	125.0	133.0					4																	155490938		2203	4300	6503	SO:0001583	missense	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155490938G>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.1231G>T	4.37:g.155490938G>T	ENSP00000306099:p.Asp411Tyr					FGB_ENST00000509493.1_Missense_Mutation_p.D192Y|FGB_ENST00000502545.1_Intron	p.D411Y	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN			7	1294	+	all_hematologic(180;0.215)	Renal(120;0.0458)	411			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	ENST00000302068.4	37	c.1231G>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152366	0.78001	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	D;D	0.86562	-2.14;-2.14	5.73	5.73	0.89815	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	H	0.98883	4.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97767	1.0224	10	0.87932	D	0	.	20.2602	0.98440	0.0:0.0:1.0:0.0	.	394;411	B4E1D3;P02675	.;FIBB_HUMAN	Y	411;394;192	ENSP00000306099:D411Y;ENSP00000426757:D192Y	ENSP00000306099:D411Y	D	+	1	0	FGB	155710388	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	9.827000	0.99397	2.861000	0.98227	0.655000	0.94253	GAC		0.428	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		14	58	14	58	---	---	---	---
MAP1B	4131	broad.mit.edu	37	5	71492635	71492635	+	Silent	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:71492635G>A	ENST00000296755.7	+	5	3751	c.3453G>A	c.(3451-3453)gaG>gaA	p.E1151E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1151					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAATGAAGAGACGGAGTCCC	0.453																																					Melanoma(17;367 822 11631 31730 47712)	ENST00000296755.7																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104						c.(3451-3453)gaG>gaA		microtubule-associated protein 1B							62.0	60.0	61.0					5																	71492635		2203	4300	6503	SO:0001819	synonymous_variant	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71492635G>A	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3453G>A	5.37:g.71492635G>A							p.E1151E	NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	3751	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1151					A2BDK5	Silent	SNP	ENST00000296755.7	37	c.3453G>A	CCDS4012.1																																																																																				0.453	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909		4	39	4	39	---	---	---	---
ANXA6	309	broad.mit.edu	37	5	150510817	150510817	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr5:150510817G>T	ENST00000354546.5	-	11	997	c.770C>A	c.(769-771)gCt>gAt	p.A257D	ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	257					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCCTTTCAGCAAAATATTC	0.527																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(769-771)gCt>gAt		annexin A6							143.0	145.0	144.0					5																	150510817		1889	4125	6014	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150510817G>T	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.770C>A	5.37:g.150510817G>T	ENSP00000346550:p.Ala257Asp					ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D	p.A257D	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		11	997	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	257					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.770C>A	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	G	32	5.115507	0.94339	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000356496;ENST00000540153	T;T;T	0.33654	1.4;1.4;1.4	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.79534	0.4462	H	0.99794	4.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89549	0.3798	10	0.87932	D	0	.	17.794	0.88564	0.0:0.0:1.0:0.0	.	257;257	A6NN80;P08133	.;ANXA6_HUMAN	D	257;225;257;131	ENSP00000346550:A257D;ENSP00000430517:A225D;ENSP00000348889:A257D	ENSP00000346550:A257D	A	-	2	0	ANXA6	150491010	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	8.379000	0.90146	2.496000	0.84212	0.655000	0.94253	GCT		0.527	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		4	136	4	136	---	---	---	---
FGD2	221472	broad.mit.edu	37	6	36993603	36993603	+	Silent	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr6:36993603A>G	ENST00000274963.8	+	14	1665	c.1494A>G	c.(1492-1494)gaA>gaG	p.E498E		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	498					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						ACCGGGCCGAACTGAAATACG	0.622																																						ENST00000274963.8																			0				central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1492-1494)gaA>gaG		FYVE, RhoGEF and PH domain containing 2							140.0	110.0	120.0					6																	36993603		2203	4300	6503	SO:0001819	synonymous_variant	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr6:36993603A>G	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1494A>G	6.37:g.36993603A>G							p.E498E	NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN			14	1665	+			498					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Silent	SNP	ENST00000274963.8	37	c.1494A>G	CCDS4829.1																																																																																				0.622	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		6	48	6	48	---	---	---	---
CLN8	2055	broad.mit.edu	37	8	1728426	1728426	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:1728426C>G	ENST00000331222.4	+	3	801	c.554C>G	c.(553-555)tCc>tGc	p.S185C	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	185	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		GCGGGCTGGTCCGAGTCTCTG	0.463																																					Pancreas(155;338 1942 6138 10888 50612)	ENST00000331222.4																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(553-555)tCc>tGc		ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)							124.0	97.0	106.0					8																	1728426		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1728426C>G	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.554C>G	8.37:g.1728426C>G	ENSP00000328182:p.Ser185Cys					CLN8_ENST00000523237.1_3'UTR	p.S185C	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	3	801	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	185			TLC.		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.554C>G	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830021	0.32329	.	.	ENSG00000182372	ENST00000331222	D	0.85556	-2.0	5.17	5.17	0.71159	TRAM/LAG1/CLN8 homology domain (3);	0.194277	0.31507	U	0.007533	T	0.80204	0.4580	L	0.31294	0.92	0.54753	D	0.99998	B	0.18461	0.028	B	0.17433	0.018	T	0.75912	-0.3150	10	0.54805	T	0.06	-14.436	18.6661	0.91491	0.0:1.0:0.0:0.0	.	185	Q9UBY8	CLN8_HUMAN	C	185	ENSP00000328182:S185C	ENSP00000328182:S185C	S	+	2	0	CLN8	1715833	1.000000	0.71417	0.840000	0.33206	0.040000	0.13550	7.129000	0.77225	2.400000	0.81607	0.650000	0.86243	TCC		0.463	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		13	59	13	59	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2886875	2886875	+	Silent	SNP	C	C	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:2886875C>T	ENST00000520002.1	-	52	8379	c.7824G>A	c.(7822-7824)acG>acA	p.T2608T	CSMD1_ENST00000400186.3_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000602557.1_Silent_p.T2608T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2608	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CTATGTTCCACGTCCCATTGG	0.522																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(7822-7824)acG>acA		CUB and Sushi multiple domains 1							94.0	94.0	94.0					8																	2886875		2020	4186	6206	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2886875C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.7824G>A	8.37:g.2886875C>T						CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000520002.1_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000400186.3_Silent_p.T2608T	p.T2608T			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	52	8379	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2608			Sushi 16.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.7824G>A		.	.	.	.	.	.	.	.	.	.	C	3.374	-0.127819	0.06753	.	.	ENSG00000183117	ENST00000335551	.	.	.	4.88	-7.64	0.01286	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41106	-0.9527	4	.	.	.	.	3.9963	0.09559	0.0832:0.1086:0.3355:0.4728	.	.	.	.	M	2025	.	.	V	-	1	0	CSMD1	2874282	0.971000	0.33674	0.490000	0.27465	0.266000	0.26442	-0.076000	0.11412	-1.686000	0.01439	0.591000	0.81541	GTG		0.522	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		10	36	10	36	---	---	---	---
CDCA2	157313	broad.mit.edu	37	8	25340925	25340925	+	Missense_Mutation	SNP	A	A	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:25340925A>T	ENST00000330560.3	+	9	1520	c.1043A>T	c.(1042-1044)aAc>aTc	p.N348I	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	348					mitotic nuclear division (GO:0007067)|positive regulation of protein dephosphorylation (GO:0035307)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAACACTGTAACAACCTCTAT	0.323																																						ENST00000330560.3																			0				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35						c.(1042-1044)aAc>aTc		cell division cycle associated 2							85.0	81.0	82.0					8																	25340925		2203	4300	6503	SO:0001583	missense	157313				cell division|mitosis	cytoplasm|nucleus		g.chr8:25340925A>T	BG354575	CCDS6049.1	8p21.2	2014-06-12			ENSG00000184661	ENSG00000184661			14623	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 81"""					12188893, 16492807	Standard	NM_152562		Approved	Repo-Man, PPP1R81	uc003xep.1	Q69YH5	OTTHUMG00000099429	ENST00000330560.3:c.1043A>T	8.37:g.25340925A>T	ENSP00000328228:p.Asn348Ile					CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I|CDCA2_ENST00000521098.2_3'UTR	p.N348I	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)	9	1520	+		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)	348					Q3SX74|Q4G0W0|Q5RKN0|Q69YI4|Q6P464|Q8N7C1	Missense_Mutation	SNP	ENST00000330560.3	37	c.1043A>T	CCDS6049.1	.	.	.	.	.	.	.	.	.	.	A	7.350	0.622728	0.14193	.	.	ENSG00000184661	ENST00000330560;ENST00000380665	T;T	0.31247	1.5;1.5	5.19	1.56	0.23342	.	0.886730	0.09925	N	0.737890	T	0.20740	0.0499	L	0.36672	1.1	0.09310	N	1	B;P;P	0.43094	0.399;0.799;0.799	B;B;B	0.38020	0.101;0.263;0.263	T	0.16808	-1.0390	10	0.62326	D	0.03	-2.3379	3.9039	0.09174	0.6277:0.1848:0.1875:0.0	.	348;333;348	B7Z5Q5;E9PEI0;Q69YH5	.;.;CDCA2_HUMAN	I	348;333	ENSP00000328228:N348I;ENSP00000370040:N333I	ENSP00000328228:N348I	N	+	2	0	CDCA2	25396842	0.001000	0.12720	0.018000	0.16275	0.005000	0.04900	0.079000	0.14782	0.473000	0.27368	0.528000	0.53228	AAC		0.323	CDCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216891.3	NM_152562		31	60	31	60	---	---	---	---
NBN	4683	broad.mit.edu	37	8	90965618	90965618	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr8:90965618A>G	ENST00000265433.3	-	11	1853	c.1699T>C	c.(1699-1701)Ttc>Ctc	p.F567L	NBN_ENST00000409330.1_Missense_Mutation_p.F485L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	567					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTGTCCTTGAATAACTGTTCC	0.348								Homologous recombination																														ENST00000265433.3																			0				autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						c.(1699-1701)Ttc>Ctc	Homologous recombination	nibrin							315.0	307.0	310.0					8																	90965618		2203	4300	6503	SO:0001583	missense	4683				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90965618A>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1699T>C	8.37:g.90965618A>G	ENSP00000265433:p.Phe567Leu					NBN_ENST00000409330.1_Missense_Mutation_p.F485L	p.F567L	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		11	1853	-			567					B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.1699T>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	A	0.813	-0.751371	0.03041	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	T;T	0.58797	2.04;0.31	5.29	-6.98	0.01611	.	1.040220	0.07535	N	0.912972	T	0.27169	0.0666	N	0.08118	0	0.09310	N	1	B;B	0.15141	0.005;0.012	B;B	0.12156	0.006;0.007	T	0.45131	-0.9282	10	0.02654	T	1	0.47	10.4341	0.44424	0.2293:0.0:0.6382:0.1325	.	567;567	A6H8Y5;O60934	.;NBN_HUMAN	L	567;485	ENSP00000265433:F567L;ENSP00000386924:F485L	ENSP00000265433:F567L	F	-	1	0	NBN	91034794	0.007000	0.16637	0.012000	0.15200	0.623000	0.37688	-0.352000	0.07701	-0.891000	0.03940	-1.017000	0.02453	TTC		0.348	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688		17	133	17	133	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111714527	111714527	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr9:111714527G>C	ENST00000325551.4	-	14	1883	c.1797C>G	c.(1795-1797)aaC>aaG	p.N599K	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.N599K	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	599					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		TACTGGACATGTTCCGTCCAT	0.358																																						ENST00000374595.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1795-1797)aaC>aaG		catenin (cadherin-associated protein), alpha-like 1							145.0	132.0	136.0					9																	111714527		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111714527G>C	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1797C>G	9.37:g.111714527G>C	ENSP00000320434:p.Asn599Lys					CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.N599K	p.N599K			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	14	1876	-			599					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1797C>G	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596708	0.66332	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.35048	1.33;1.33;1.33	4.79	2.92	0.33932	.	0.128388	0.64402	D	0.000001	T	0.41743	0.1172	M	0.68593	2.085	0.21020	N	0.9998	B;P;B;P;B	0.45283	0.425;0.557;0.425;0.855;0.425	B;B;B;P;B	0.50314	0.136;0.167;0.136;0.637;0.136	T	0.18398	-1.0338	10	0.33141	T	0.24	-10.1722	6.627	0.22835	0.3072:0.0:0.6928:0.0	.	599;515;599;599;599	B2RBI4;Q9UBT7-3;B3KMX6;Q9UBT7-2;Q9UBT7	.;.;.;.;CTNL1_HUMAN	K	599;599;515	ENSP00000363723:N599K;ENSP00000320434:N599K;ENSP00000323351:N515K	ENSP00000320434:N599K	N	-	3	2	CTNNAL1	110754348	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.136000	0.58004	0.532000	0.28657	-0.253000	0.11424	AAC		0.358	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		24	53	24	53	---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52865005	52865005	+	Missense_Mutation	SNP	G	G	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:52865005G>T	ENST00000252250.6	-	5	1035	c.988C>A	c.(988-990)Ctg>Atg	p.L330M		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	330	Linker 12.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		ATGCTGTCCAGGTCCAGGTTG	0.562																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(988-990)Ctg>Atg		keratin 6C							174.0	161.0	166.0					12																	52865005		2203	4300	6503	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52865005G>T	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.988C>A	12.37:g.52865005G>T	ENSP00000252250:p.Leu330Met						p.L330M	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1035	-			330			Linker 12.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.988C>A	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973408	0.53614	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	D	0.94828	-3.53	3.46	3.46	0.39613	Filament (1);	0.000000	0.45606	D	0.000345	D	0.95037	0.8393	L	0.55017	1.72	0.31676	N	0.643692	D	0.60575	0.988	D	0.67382	0.951	D	0.92618	0.6105	10	0.21014	T	0.42	.	11.6655	0.51370	0.0:0.0:0.8222:0.1778	.	330	P48668	K2C6C_HUMAN	M	330;315	ENSP00000252250:L330M	ENSP00000252250:L330M	L	-	1	2	KRT6C	51151272	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.958000	0.40402	1.929000	0.55896	0.442000	0.29010	CTG		0.562	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		4	159	4	159	---	---	---	---
POC1B	282809	broad.mit.edu	37	12	89885713	89885713	+	Splice_Site	SNP	T	T	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:89885713T>G	ENST00000313546.3	-	4	580	c.452A>C	c.(451-453)aAa>aCa	p.K151T	POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000393179.4_Splice_Site_p.K21T|POC1B_ENST00000549504.1_Splice_Site_p.K21T	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	151					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TTGCACTTACTTGGCACAGCG	0.403																																						ENST00000393179.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						c.(61-63)aAa>aCa		POC1 centriolar protein B							97.0	95.0	96.0					12																	89885713		2203	4300	6503	SO:0001630	splice_region_variant	282809							g.chr12:89885713T>G	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.452+1A>C	12.37:g.89885713T>G						POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000313546.3_Splice_Site_p.K151T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000549504.1_Splice_Site_p.K21T	p.K21T							2	675	-								G3V1X0	Splice_Site	SNP	ENST00000313546.3	37	c.62A>C	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.924148	0.52653	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000378528;ENST00000549035;ENST00000541909;ENST00000549504	T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12	5.66	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042981	0.85682	D	0.000000	T	0.54532	0.1864	N	0.13327	0.33	0.52099	D	0.999945	D	0.76494	0.999	D	0.68943	0.961	T	0.52102	-0.8620	9	.	.	.	.	8.5628	0.33520	0.0:0.1498:0.0:0.8502	.	151	Q8TC44	POC1B_HUMAN	T	21;151;21;109;21;21	ENSP00000376877:K21T;ENSP00000323302:K151T;ENSP00000367789:K21T;ENSP00000447916:K109T;ENSP00000440301:K21T	.	K	-	2	0	POC1B	88409844	1.000000	0.71417	1.000000	0.80357	0.325000	0.28411	0.870000	0.28010	0.986000	0.38683	-0.456000	0.05471	AAA;AAA;AAA;AAA;AAA;AAG		0.403	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	Missense_Mutation	19	100	19	100	---	---	---	---
COQ5	84274	broad.mit.edu	37	12	120966916	120966916	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr12:120966916C>T	ENST00000288532.6	-	1	69	c.29G>A	c.(28-30)tGg>tAg	p.W10*	COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	10					small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCAATAGCTCCATAGAGCACA	0.662																																						ENST00000288532.6																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20						c.(28-30)tGg>tAg		coenzyme Q5 homolog, methyltransferase (S. cerevisiae)							19.0	22.0	21.0					12																	120966916		2202	4300	6502	SO:0001587	stop_gained	84274				ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	g.chr12:120966916C>T	AK057777	CCDS31912.1	12q24.31	2011-09-16	2006-04-04		ENSG00000110871	ENSG00000110871	2.1.1.201		28722	protein-coding gene	gene with protein product	"""2-methoxy-6-polyprenyl-1,4-benzoquinol methylase"""		"""coenzyme Q5 homolog, methyltransferase (yeast)"""				Standard	NM_032314		Approved	MGC4767	uc001tyn.3	Q5HYK3	OTTHUMG00000169375	ENST00000288532.6:c.29G>A	12.37:g.120966916C>T	ENSP00000288532:p.Trp10*					COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10*	p.W10*	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN			1	69	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		10					B4DEJ4|Q32Q28|Q53HH0|Q96LV1|Q9BSP8	Nonsense_Mutation	SNP	ENST00000288532.6	37	c.29G>A	CCDS31912.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477673	0.84640	.	.	ENSG00000110871	ENST00000288532;ENST00000302223;ENST00000445328;ENST00000547943	.	.	.	5.66	5.66	0.87406	.	0.540114	0.22228	N	0.062851	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	17.2476	0.87032	0.0:1.0:0.0:0.0	.	.	.	.	X	10	.	ENSP00000288532:W10X	W	-	2	0	COQ5	119451299	0.068000	0.21057	0.070000	0.20053	0.017000	0.09413	1.844000	0.39269	2.690000	0.91761	0.655000	0.94253	TGG		0.662	COQ5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403767.2	NM_032314		5	22	5	22	---	---	---	---
ALG5	29880	broad.mit.edu	37	13	37567800	37567800	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr13:37567800G>A	ENST00000239891.3	-	4	361	c.295C>T	c.(295-297)Cct>Tct	p.P99S	ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	99					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GTGAACGCAGGATCTCGTTTC	0.313																																						ENST00000239891.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(295-297)Cct>Tct		ALG5, dolichyl-phosphate beta-glucosyltransferase							110.0	105.0	107.0					13																	37567800		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37567800G>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.295C>T	13.37:g.37567800G>A	ENSP00000239891:p.Pro99Ser					ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron	p.P99S	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	4	361	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	99					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.295C>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	G	12.35	1.911415	0.33721	.	.	ENSG00000120697	ENST00000239891;ENST00000413537	T;T	0.61510	0.1;0.1	5.66	4.81	0.61882	Glycosyl transferase, family 2 (1);	0.148484	0.64402	D	0.000007	T	0.41858	0.1177	L	0.31420	0.93	0.58432	D	0.999998	B	0.12013	0.005	B	0.14023	0.01	T	0.33033	-0.9884	10	0.02654	T	1	-18.9438	14.7018	0.69162	0.0712:0.0:0.9288:0.0	.	99	Q9Y673	ALG5_HUMAN	S	99	ENSP00000239891:P99S;ENSP00000389647:P99S	ENSP00000239891:P99S	P	-	1	0	ALG5	36465800	1.000000	0.71417	0.911000	0.35937	0.747000	0.42532	3.154000	0.50693	1.365000	0.46057	0.563000	0.77884	CCT		0.313	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		7	117	7	117	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21955847	21955847	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr14:21955847A>G	ENST00000405508.1	+	4	589	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A|TOX4_ENST00000494242.1_3'UTR			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	105						chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGGGGGCTTGACCATGGTAAG	0.547																																						ENST00000405508.1																			0				large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(313-315)Acc>Gcc		TOX high mobility group box family member 4							44.0	46.0	45.0					14																	21955847		2203	4299	6502	SO:0001583	missense	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21955847A>G	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.313A>G	14.37:g.21955847A>G	ENSP00000385102:p.Thr105Ala					TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A	p.T105A			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	4	589	+	all_cancers(95;0.000465)		105					B4DPY8|B4DSM0|E7EV69	Missense_Mutation	SNP	ENST00000405508.1	37	c.313A>G	CCDS32043.1	.	.	.	.	.	.	.	.	.	.	A	8.803	0.933473	0.18206	.	.	ENSG00000092203	ENST00000416256;ENST00000405508;ENST00000262709;ENST00000457430;ENST00000448790	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.3	2.67	0.31697	.	0.234408	0.42964	D	0.000630	T	0.11750	0.0286	N	0.01352	-0.895	0.22401	N	0.999135	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.16897	-1.0387	10	0.16420	T	0.52	.	2.5588	0.04766	0.4846:0.0:0.3147:0.2007	.	82;105	B4DPY8;O94842	.;TOX4_HUMAN	A	134;105;105;82;82	ENSP00000402195:T134A;ENSP00000385102:T105A;ENSP00000262709:T105A;ENSP00000406196:T82A;ENSP00000393080:T82A	ENSP00000262709:T105A	T	+	1	0	TOX4	21025687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.561000	0.36342	0.960000	0.38005	0.459000	0.35465	ACC		0.547	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		21	56	21	56	---	---	---	---
CORO2B	10391	broad.mit.edu	37	15	69011503	69011503	+	Missense_Mutation	SNP	C	C	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr15:69011503C>G	ENST00000566799.1	+	10	1130	c.1101C>G	c.(1099-1101)gaC>gaG	p.D367E	CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E|CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000543950.1_Missense_Mutation_p.D362E			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	367					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACCAGGAAGACATTTACCCAA	0.572																																						ENST00000543950.1																			0				kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(1084-1086)gaC>gaG		coronin, actin binding protein, 2B							109.0	105.0	106.0					15																	69011503		2200	4298	6498	SO:0001583	missense	10391				actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding	g.chr15:69011503C>G	AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.1101C>G	15.37:g.69011503C>G	ENSP00000454783:p.Asp367Glu					CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000566799.1_Missense_Mutation_p.D367E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E	p.D362E	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN			10	1440	+			367					A8K0W3|O94767|Q8TAN1	Missense_Mutation	SNP	ENST00000566799.1	37	c.1086C>G	CCDS10229.2	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475245	0.84640	.	.	ENSG00000103647	ENST00000261861;ENST00000540068;ENST00000543950	T;T	0.58358	0.34;0.34	5.46	4.54	0.55810	Domain of unknown function DUF1900 (1);	0.000000	0.85682	D	0.000000	T	0.76884	0.4050	M	0.91510	3.215	0.58432	D	0.999994	D	0.89917	1.0	D	0.79108	0.992	T	0.82250	-0.0550	10	0.87932	D	0	-49.7897	13.0557	0.58980	0.0:0.9214:0.0:0.0786	.	367	Q9UQ03	COR2B_HUMAN	E	367;362;362	ENSP00000446250:D362E;ENSP00000443819:D362E	ENSP00000261861:D367E	D	+	3	2	CORO2B	66798557	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	0.827000	0.27421	1.304000	0.44892	0.313000	0.20887	GAC		0.572	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_006091		8	90	8	90	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7804250	7804250	+	Missense_Mutation	SNP	A	A	G			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:7804250A>G	ENST00000330494.7	+	19	3209	c.3059A>G	c.(3058-3060)aAt>aGt	p.N1020S	CHD3_ENST00000380358.4_Missense_Mutation_p.N1079S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1020					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TCGCTGCTTAATATCATGATG	0.473																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(3235-3237)aAt>aGt		chromodomain helicase DNA binding protein 3							121.0	110.0	113.0					17																	7804250		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7804250A>G	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3059A>G	17.37:g.7804250A>G	ENSP00000332628:p.Asn1020Ser					CHD3_ENST00000330494.7_Missense_Mutation_p.N1020S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S	p.N1079S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			19	3237	+		Prostate(122;0.202)	1020			Helicase C-terminal.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.3236A>G	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	A	15.67	2.902245	0.52227	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75589	-0.95;-0.95;-0.95	4.95	4.95	0.65309	SNF2-related (1);	0.000000	0.50627	D	0.000112	D	0.82953	0.5149	L	0.53249	1.67	0.80722	D	1	D;D;D	0.76494	0.996;0.997;0.999	D;D;D	0.79108	0.98;0.989;0.992	D	0.84937	0.0863	10	0.87932	D	0	-30.6814	15.0655	0.71992	1.0:0.0:0.0:0.0	.	1020;1020;1079	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	S	1079;1020;1020	ENSP00000369716:N1079S;ENSP00000350907:N1020S;ENSP00000332628:N1020S	ENSP00000332628:N1020S	N	+	2	0	CHD3	7744975	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.087000	0.94110	2.215000	0.71742	0.459000	0.35465	AAT		0.473	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		41	79	41	79	---	---	---	---
MAP2K4	6416	broad.mit.edu	37	17	11958264	11958264	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:11958264G>C	ENST00000353533.5	+	2	237	c.174G>C	c.(172-174)agG>agC	p.R58S	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R69S	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	58		Cleavage; by anthrax lethal factor.			apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CTACAGCAAGGTTTACTCTGA	0.348			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		11	Whole gene deletion(10)|Unknown(1)	p.0?(10)|p.?(1)	ovary(4)|breast(4)|biliary_tract(1)|endometrium(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(205-207)agG>agC		mitogen-activated protein kinase kinase 4							79.0	75.0	76.0					17																	11958264		2202	4298	6500	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11958264G>C	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.174G>C	17.37:g.11958264G>C	ENSP00000262445:p.Arg58Ser					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R58S	p.R69S	NM_001281435.1	NP_001268364.1	P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	3	260	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	58					B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.207G>C	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273903	0.40194	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465	T;T	0.72051	-0.55;-0.62	5.57	4.54	0.55810	.	0.043334	0.85682	D	0.000000	T	0.59582	0.2204	L	0.56769	1.78	0.49389	D	0.999786	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.001	T	0.52200	-0.8607	10	0.15499	T	0.54	.	5.5635	0.17157	0.1581:0.1746:0.6673:0.0	.	69;58	P45985-2;P45985	.;MP2K4_HUMAN	S	58;69;35	ENSP00000262445:R58S;ENSP00000410402:R69S	ENSP00000262445:R58S	R	+	3	2	MAP2K4	11898989	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.938000	0.40203	2.785000	0.95823	0.655000	0.94253	AGG		0.348	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			5	51	5	51	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15964819	15964819	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:15964819G>A	ENST00000268712.3	-	37	6034	c.5777C>T	c.(5776-5778)aCc>aTc	p.T1926I	NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1926	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCAGTAATGGTAGTCTTCCC	0.478																																						ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(5776-5778)aCc>aTc		nuclear receptor corepressor 1							300.0	278.0	285.0					17																	15964819		2203	4300	6503	SO:0001583	missense	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15964819G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5777C>T	17.37:g.15964819G>A	ENSP00000268712:p.Thr1926Ile					NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I	p.T1926I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	37	6034	-			1926			Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	c.5777C>T	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.686884	0.88639	.	.	ENSG00000141027	ENST00000268712;ENST00000395849;ENST00000395857	T;T	0.53423	0.62;0.62	5.87	5.87	0.94306	.	0.043420	0.85682	D	0.000000	T	0.70928	0.3280	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;1.0	D;D;D;D	0.91635	0.997;0.994;0.996;0.999	T	0.72487	-0.4278	10	0.87932	D	0	-10.1654	19.1914	0.93667	0.0:0.0:1.0:0.0	.	736;1830;1926;446	B4DZ48;E7EVK1;O75376;Q86YY1	.;.;NCOR1_HUMAN;.	I	1926;1830;510	ENSP00000268712:T1926I;ENSP00000379198:T510I	ENSP00000268712:T1926I	T	-	2	0	NCOR1	15905544	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.785000	0.95823	0.650000	0.86243	ACC		0.478	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		5	275	5	275	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		45	98	45	98	---	---	---	---
MAN2B1	4125	broad.mit.edu	37	19	12760801	12760801	+	Missense_Mutation	SNP	G	G	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:12760801G>C	ENST00000456935.2	-	18	2233	c.2193C>G	c.(2191-2193)agC>agG	p.S731R	CTD-2192J16.22_ENST00000597692.1_5'Flank|MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	731					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGTCAAAACGGCTGATGACCT	0.592																																						ENST00000456935.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(2191-2193)agC>agG		mannosidase, alpha, class 2B, member 1							218.0	195.0	203.0					19																	12760801		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12760801G>C		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.2193C>G	19.37:g.12760801G>C	ENSP00000395473:p.Ser731Arg					MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R	p.S731R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN			18	2233	-			731					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.2193C>G	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.885366	0.51908	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.78816	-1.21;-1.21	5.13	-4.26	0.03755	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.56097	D	0.000034	D	0.86201	0.5876	M	0.87682	2.9	0.36238	D	0.853109	D;D	0.89917	1.0;1.0	D;D	0.73708	0.978;0.981	D	0.87677	0.2545	10	0.87932	D	0	-30.1702	13.2578	0.60089	0.3401:0.0:0.6599:0.0	.	730;731	G5E928;O00754	.;MA2B1_HUMAN	R	731;670;730	ENSP00000395473:S731R;ENSP00000221363:S730R	ENSP00000221363:S730R	S	-	3	2	MAN2B1	12621801	0.716000	0.27956	0.976000	0.42696	0.492000	0.33523	-0.138000	0.10374	-0.627000	0.05589	0.555000	0.69702	AGC		0.592	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1			6	183	6	183	---	---	---	---
ZNF507	22847	broad.mit.edu	37	19	32844700	32844700	+	Missense_Mutation	SNP	G	G	A			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr19:32844700G>A	ENST00000311921.4	+	2	1156	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M|ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGGGCCATCAGTGCAAGTGCA	0.498																																						ENST00000311921.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31						c.(964-966)Gtg>Atg		zinc finger protein 507							189.0	175.0	180.0					19																	32844700		2203	4300	6503	SO:0001583	missense	22847				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:32844700G>A	AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.964G>A	19.37:g.32844700G>A	ENSP00000312277:p.Val322Met					ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M|ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M	p.V322M	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN			2	1156	+	Esophageal squamous(110;0.162)							A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	c.964G>A	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	G	9.615	1.132246	0.21041	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.07216	3.53;3.53;3.21	5.91	5.91	0.95273	.	0.307839	0.34133	N	0.004225	T	0.12860	0.0312	L	0.57536	1.79	0.26307	N	0.977884	P;P	0.42203	0.468;0.773	B;B	0.40444	0.115;0.329	T	0.09122	-1.0689	10	0.54805	T	0.06	.	15.6025	0.76636	0.0:0.2403:0.7597:0.0	.	322;322	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	M	322	ENSP00000348162:V322M;ENSP00000312277:V322M;ENSP00000441549:V322M	ENSP00000312277:V322M	V	+	1	0	ZNF507	37536540	0.878000	0.30173	0.221000	0.23827	0.822000	0.46500	1.525000	0.35953	2.791000	0.96007	0.655000	0.94253	GTG		0.498	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		36	189	36	189	---	---	---	---
TAF10	6881	broad.mit.edu	37	11	6636110	6636111	+	5'Flank	INS	-	-	C			TCGA-Y6-A8TL-01A-21D-A377-08	TCGA-Y6-A8TL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f907297-ae7b-4418-8f9c-44dec3b16e05	bd88704d-1edf-4179-a293-d9823e1d7945	g.chr11:6636110_6636111insC	ENST00000299424.4	-	0	0				TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000533371.1_Frame_Shift_Ins_p.A270fs|TPP1_ENST00000534644.1_5'Flank	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGAGTCCTGCCCCATGCTGC	0.54																																						ENST00000533371.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(808-810)gcafs		tripeptidyl peptidase I																																				SO:0001631	upstream_gene_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6636110_6636111insC	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6636114_6636114dupC	Exception_encountered					TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs	p.A270fs			O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	11	1606_1607	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	513					O00703|Q13175|Q6FH13	Frame_Shift_Ins	INS	ENST00000299424.4	37	c.808_809insG	CCDS7769.1																																																																																				0.540	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		120	314	120	314	---	---	---	---
