#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
DNM1P47	100216544	broad.mit.edu	37	15	102296140	102296140	+	RNA	SNP	C	C	T	rs191279075	byFrequency	TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr15:102296140C>T	ENST00000561463.1	+	0	4186									DNM1 pseudogene 47																		GTCCAACCTGCACTCGCGTGG	0.602																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102296140C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296140C>T														0	4186	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	13	0	0	0	1	0	3	13				
USP15	9958	broad.mit.edu	37	12	62785104	62785104	+	Nonsense_Mutation	SNP	C	C	T	rs149953550		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:62785104C>T	ENST00000280377.5	+	16	2186	c.2128C>T	c.(2128-2130)Cga>Tga	p.R710*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R681*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	710	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACACAAAAAACGATTGTTTAC	0.373																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2128-2130)Cga>Tga		ubiquitin specific peptidase 15							116.0	114.0	114.0					12																	62785104		2203	4300	6503	SO:0001587	stop_gained	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785104C>T	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2128C>T	12.37:g.62785104C>T	ENSP00000280377:p.Arg710*					USP15_ENST00000393654.3_Nonsense_Mutation_p.R685*|USP15_ENST00000353364.3_Nonsense_Mutation_p.R681*	p.R710*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2186	+			710					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Nonsense_Mutation	SNP	ENST00000280377.5	37	c.2128C>T	CCDS58251.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410931	0.97546	.	.	ENSG00000135655	ENST00000353364;ENST00000280377;ENST00000393654	.	.	.	5.59	1.31	0.21738	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.5548	15.1974	0.73104	0.5042:0.4957:0.0:0.0	.	.	.	.	X	681;710;685	.	.	R	+	1	2	USP15	61071371	0.933000	0.31639	0.986000	0.45419	0.995000	0.86356	1.745000	0.38278	0.241000	0.21283	0.563000	0.77884	CGA		0.373	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		20	32	0	0	0	1	0	20	32				
CUL1	8454	broad.mit.edu	37	7	148427298	148427298	+	Missense_Mutation	SNP	C	C	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr7:148427298C>G	ENST00000325222.4	+	2	363	c.84C>G	c.(82-84)atC>atG	p.I28M	CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M|AC005229.1_ENST00000578165.1_RNA	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	28					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAGCCGGCATCCAGCAGGTGT	0.547																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(82-84)atC>atG		cullin 1							103.0	90.0	94.0					7																	148427298		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148427298C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.84C>G	7.37:g.148427298C>G	ENSP00000326804:p.Ile28Met					CUL1_ENST00000602748.1_Missense_Mutation_p.I28M|CUL1_ENST00000409469.1_Missense_Mutation_p.I28M	p.I28M	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		2	363	+	Melanoma(164;0.15)		28					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.84C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.681871	0.68042	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000433865	T;T	0.80033	-1.33;-1.33	5.79	1.87	0.25490	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82084	0.4960	M	0.68593	2.085	0.80722	D	1	D	0.53745	0.962	P	0.55615	0.78	T	0.79065	-0.1956	10	0.62326	D	0.03	-25.454	5.4826	0.16731	0.1315:0.5367:0.0:0.3318	.	28	Q13616	CUL1_HUMAN	M	28	ENSP00000387160:I28M;ENSP00000326804:I28M	ENSP00000326804:I28M	I	+	3	3	CUL1	148058231	0.995000	0.38212	1.000000	0.80357	0.964000	0.63967	0.376000	0.20535	0.347000	0.23924	-1.083000	0.02208	ATC		0.547	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		6	90	0	0	0	1	0	6	90				
SPATA31D1	389763	broad.mit.edu	37	9	84608005	84608005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:84608005C>T	ENST00000344803.2	+	4	2667	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	874					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AATTAAACATCGAAATCTGGT	0.438																																						ENST00000344803.2																			0											c.(2620-2622)Cga>Tga		SPATA31 subfamily D, member 1							108.0	93.0	97.0					9																	84608005		1887	4129	6016	SO:0001587	stop_gained	389763							g.chr9:84608005C>T		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2620C>T	9.37:g.84608005C>T	ENSP00000341988:p.Arg874*						p.R874*	NM_001001670.2	NP_001001670.1					4	2667	+									Nonsense_Mutation	SNP	ENST00000344803.2	37	c.2620C>T	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919733	0.92249	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.86	-2.0	0.07433	.	2.170440	0.01781	N	0.031786	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.1269	4.6677	0.12673	0.3392:0.5051:0.1557:0.0	.	.	.	.	X	874	.	ENSP00000341988:R874X	R	+	1	2	FAM75D1	83797825	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.173000	0.09854	-0.334000	0.08463	-1.035000	0.02400	CGA		0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670		11	40	0	0	0	1	0	11	40				
IGHA2	3494	broad.mit.edu	37	14	106054006	106054006	+	RNA	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr14:106054006G>A	ENST00000390539.2	-	0	512				AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CACTGGACACGCTGTAGCAGC	0.622																																						ENST00000390539.2																			0																				32.0	42.0	38.0					14																	106054006		2135	4225	6360			3494							g.chr14:106054006G>A	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054006G>A														0	512	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.622	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		6	20	0	0	0	1	0	6	20				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	62	0	0	0	1	0	5	62				
RAB3GAP2	25782	broad.mit.edu	37	1	220346011	220346011	+	Missense_Mutation	SNP	T	T	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:220346011T>A	ENST00000358951.2	-	22	2500	c.2384A>T	c.(2383-2385)cAt>cTt	p.H795L		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	795					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CAGCATGGTATGAAGACAGCA	0.383																																						ENST00000358951.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39						c.(2383-2385)cAt>cTt		RAB3 GTPase activating protein subunit 2 (non-catalytic)							133.0	118.0	123.0					1																	220346011		2203	4300	6503	SO:0001583	missense	25782				intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	g.chr1:220346011T>A	AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2384A>T	1.37:g.220346011T>A	ENSP00000351832:p.His795Leu						p.H795L	NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN		GBM - Glioblastoma multiforme(131;0.0443)	22	2500	-			795					A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Missense_Mutation	SNP	ENST00000358951.2	37	c.2384A>T	CCDS31028.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.726480	0.69074	.	.	ENSG00000118873	ENST00000358951	T	0.30981	1.51	5.69	5.69	0.88448	.	0.095287	0.64402	D	0.000001	T	0.27278	0.0669	L	0.48642	1.525	0.53688	D	0.999973	B	0.12630	0.006	B	0.14578	0.011	T	0.10019	-1.0648	10	0.08599	T	0.76	.	15.9415	0.79758	0.0:0.0:0.0:1.0	.	795	Q9H2M9	RBGPR_HUMAN	L	795	ENSP00000351832:H795L	ENSP00000351832:H795L	H	-	2	0	RAB3GAP2	218412634	1.000000	0.71417	0.930000	0.37139	0.982000	0.71751	4.890000	0.63178	2.157000	0.67596	0.533000	0.62120	CAT		0.383	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090205.2	NM_012414		5	30	0	0	0	1	0	5	30				
APBA1	320	broad.mit.edu	37	9	72056012	72056012	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:72056012C>T	ENST00000265381.4	-	11	2423	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	734	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTTGACTCGGGACTGATT	0.473																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(2200-2202)cGa>cAa		amyloid beta (A4) precursor protein-binding, family A, member 1							136.0	119.0	124.0					9																	72056012		2203	4300	6503	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72056012C>T	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.2201G>A	9.37:g.72056012C>T	ENSP00000265381:p.Arg734Gln						p.R734Q	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			11	2423	-			734			PDZ 1.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.2201G>A	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.639645	0.29157	.	.	ENSG00000107282	ENST00000265381	T	0.26518	1.73	5.91	5.91	0.95273	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.10895	0.0266	N	0.04508	-0.205	0.58432	D	0.999999	P	0.35139	0.486	B	0.19666	0.026	T	0.18116	-1.0347	10	0.05833	T	0.94	-14.8821	20.2985	0.98592	0.0:1.0:0.0:0.0	.	734	Q02410	APBA1_HUMAN	Q	734	ENSP00000265381:R734Q	ENSP00000265381:R734Q	R	-	2	0	APBA1	71245832	0.980000	0.34600	0.983000	0.44433	0.910000	0.53928	2.523000	0.45580	2.793000	0.96121	0.655000	0.94253	CGA		0.473	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		23	43	0	0	0	1	0	23	43				
PSG2	5670	broad.mit.edu	37	19	43575927	43575927	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr19:43575927C>T	ENST00000406487.1	-	4	987	c.889G>A	c.(889-891)Ggg>Agg	p.G297R		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	297	Ig-like C2-type 2.				cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				ACATAGAGCCCGCTATGCTTT	0.468																																						ENST00000406487.1																			0				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49						c.(889-891)Ggg>Agg		pregnancy specific beta-1-glycoprotein 2							177.0	183.0	181.0					19																	43575927		2202	4299	6501	SO:0001583	missense	5670				cell migration|female pregnancy	extracellular region		g.chr19:43575927C>T		CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.889G>A	19.37:g.43575927C>T	ENSP00000385706:p.Gly297Arg						p.G297R	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN			4	987	-		Prostate(69;0.00682)	297			Ig-like C2-type 2.		Q8TCD9|Q9UEA4|Q9UQ78	Missense_Mutation	SNP	ENST00000406487.1	37	c.889G>A	CCDS12616.1	.	.	.	.	.	.	.	.	.	.	c	11.51	1.661625	0.29515	.	.	ENSG00000242221	ENST00000406487;ENST00000329509;ENST00000401942;ENST00000406917	D	0.83992	-1.79	1.26	1.26	0.21427	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93828	0.8026	H	0.99444	4.57	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.99	T	0.83206	-0.0076	9	0.87932	D	0	.	5.8601	0.18743	0.0:1.0:0.0:0.0	.	297;297	B5MCM8;P11465	.;PSG2_HUMAN	R	297	ENSP00000385706:G297R	ENSP00000332984:G297R	G	-	1	0	PSG2	48267767	0.019000	0.18553	0.002000	0.10522	0.001000	0.01503	2.022000	0.41030	0.659000	0.30945	0.398000	0.26397	GGG		0.468	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323083.1	NM_031246		4	203	0	0	0	1	0	4	203				
KDM6B	23135	broad.mit.edu	37	17	7752181	7752181	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:7752181G>A	ENST00000448097.2	+	11	2906	c.2575G>A	c.(2575-2577)Ggc>Agc	p.G859S	KDM6B_ENST00000254846.5_Missense_Mutation_p.G859S			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	859	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TAGCGCCCAGGGCTCCCCACA	0.721																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2575-2577)Ggc>Agc		lysine (K)-specific demethylase 6B							25.0	32.0	30.0					17																	7752181		2190	4276	6466	SO:0001583	missense	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7752181G>A	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2575G>A	17.37:g.7752181G>A	ENSP00000412513:p.Gly859Ser					KDM6B_ENST00000448097.2_Missense_Mutation_p.G859S	p.G859S	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2964	+			859			Pro-rich.		C9IZ40|Q96G33	Missense_Mutation	SNP	ENST00000448097.2	37	c.2575G>A		.	.	.	.	.	.	.	.	.	.	G	13.90	2.376452	0.42105	.	.	ENSG00000132510	ENST00000254846;ENST00000448097	T;T	0.76839	-1.05;-1.05	4.47	3.42	0.39159	.	0.445393	0.21996	N	0.066076	T	0.59362	0.2188	N	0.14661	0.345	0.32416	N	0.550014	B;B	0.33103	0.16;0.397	B;B	0.32090	0.045;0.14	T	0.64829	-0.6315	10	0.26408	T	0.33	-15.8647	11.6902	0.51510	0.0:0.0:0.8227:0.1773	.	859;859	O15054;O15054-1	KDM6B_HUMAN;.	S	859	ENSP00000254846:G859S;ENSP00000412513:G859S	ENSP00000254846:G859S	G	+	1	0	KDM6B	7692906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.647000	0.37260	2.490000	0.84030	0.462000	0.41574	GGC		0.721	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		20	38	0	0	0	1	0	20	38				
CYP11B2	1585	broad.mit.edu	37	8	143994109	143994109	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:143994109C>T	ENST00000323110.2	-	8	1237	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	412					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GGCGGCATTGCGACCCAGCGA	0.602									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1234-1236)cGc>cAc		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						95.0	93.0	94.0					8																	143994109		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143994109C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1235G>A	8.37:g.143994109C>T	ENSP00000325822:p.Arg412His						p.R412H	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1237	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		412					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.1235G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403842	0.62288	.	.	ENSG00000179142	ENST00000323110	T	0.72942	-0.7	3.52	3.52	0.40303	.	0.000000	0.45867	D	0.000328	T	0.73853	0.3640	M	0.64630	1.985	0.46298	D	0.998976	P	0.45715	0.865	P	0.49922	0.626	T	0.76321	-0.3002	10	0.49607	T	0.09	.	12.9218	0.58237	0.0:1.0:0.0:0.0	.	412	P19099	C11B2_HUMAN	H	412	ENSP00000325822:R412H	ENSP00000325822:R412H	R	-	2	0	CYP11B2	143991111	0.999000	0.42202	0.641000	0.29422	0.009000	0.06853	4.416000	0.59815	1.937000	0.56155	0.563000	0.77884	CGC		0.602	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			3	51	0	0	0	1	0	3	51				
CD5L	922	broad.mit.edu	37	1	157805895	157805895	+	Missense_Mutation	SNP	G	G	A	rs145458344		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:157805895G>A	ENST00000368174.4	-	3	202	c.106C>T	c.(106-108)Cgg>Tgg	p.R36W	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	36	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)	p.R36W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACCTCCACCCGCCCTTCACAG	0.632																																						ENST00000368174.4																			1	Substitution - Missense(1)	p.R36W(1)	endometrium(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(106-108)Cgg>Tgg		CD5 molecule-like							57.0	58.0	58.0					1																	157805895		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157805895G>A	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.106C>T	1.37:g.157805895G>A	ENSP00000357156:p.Arg36Trp					CD5L_ENST00000484609.1_5'UTR	p.R36W	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		3	202	-	all_hematologic(112;0.0378)		36			SRCR 1.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.106C>T	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832243	0.50845	.	.	ENSG00000073754	ENST00000368174	T	0.36340	1.26	4.85	1.81	0.25067	Speract/scavenger receptor (4);Speract/scavenger receptor-related (2);	0.559620	0.14794	N	0.298079	T	0.62380	0.2423	H	0.96916	3.905	0.35581	D	0.806289	D	0.89917	1.0	D	0.97110	1.0	T	0.72014	-0.4418	10	0.87932	D	0	.	11.8614	0.52467	0.0:0.0:0.3868:0.6132	.	36	O43866	CD5L_HUMAN	W	36	ENSP00000357156:R36W	ENSP00000357156:R36W	R	-	1	2	CD5L	156072519	0.201000	0.23410	0.722000	0.30670	0.306000	0.27790	1.084000	0.30828	0.195000	0.20347	0.563000	0.77884	CGG		0.632	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	47	0	0	0	1	0	25	47				
CNTN1	1272	broad.mit.edu	37	12	41333285	41333285	+	Missense_Mutation	SNP	C	C	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:41333285C>A	ENST00000551295.2	+	12	1494	c.1377C>A	c.(1375-1377)agC>agA	p.S459R	CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	459	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TCAATAGCAGCAGGTCAGTGC	0.353																																						ENST00000551295.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90						c.(1375-1377)agC>agA		contactin 1							70.0	69.0	69.0					12																	41333285		2203	4300	6503	SO:0001583	missense	1272				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		g.chr12:41333285C>A	Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1377C>A	12.37:g.41333285C>A	ENSP00000447006:p.Ser459Arg					CNTN1_ENST00000347616.1_Missense_Mutation_p.S459R|CNTN1_ENST00000360099.3_Missense_Mutation_p.S459R|CNTN1_ENST00000547849.1_Missense_Mutation_p.S459R|CNTN1_ENST00000547702.1_Missense_Mutation_p.S459R|CNTN1_ENST00000348761.2_Missense_Mutation_p.S448R	p.S459R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN			12	1494	+	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)	459			Ig-like C2-type 5.		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	ENST00000551295.2	37	c.1377C>A	CCDS8737.1	.	.	.	.	.	.	.	.	.	.	C	13.04	2.117431	0.37339	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	4.98	2.17	0.27698	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198109	0.52532	D	0.000062	T	0.37732	0.1014	L	0.39633	1.23	0.38069	D	0.936325	P;D;D	0.59767	0.862;0.983;0.986	P;D;D	0.70227	0.826;0.945;0.968	T	0.19647	-1.0299	10	0.23302	T	0.38	.	7.6787	0.28500	0.0:0.6059:0.0:0.3941	.	459;448;459	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	R	459;459;459;459;459;448	ENSP00000448004:S459R;ENSP00000447006:S459R;ENSP00000448653:S459R;ENSP00000325660:S459R;ENSP00000353213:S459R;ENSP00000261160:S448R	ENSP00000325660:S459R	S	+	3	2	CNTN1	39619552	0.971000	0.33674	0.994000	0.49952	0.488000	0.33401	0.266000	0.18534	0.769000	0.33313	0.561000	0.74099	AGC		0.353	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403692.2	NM_001843		11	12	1	0	2.80697e-09	1	2.89203e-09	11	12				
CRHR1	1394	broad.mit.edu	37	17	43912060	43912060	+	Missense_Mutation	SNP	G	G	A	rs530958757	byFrequency	TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:43912060G>A	ENST00000398285.3	+	14	1265	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H	CRHR1_ENST00000314537.5_Missense_Mutation_p.R393H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M|CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	422					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		CGAGTGGCCCGTGCCATGTCC	0.627													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19579	0.001		0.0	False		,,,				2504	0.0				Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(1177-1179)cGt>cAt		corticotropin releasing hormone receptor 1							67.0	82.0	77.0					17																	43912060		2195	4296	6491	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43912060G>A	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1265G>A	17.37:g.43912060G>A	ENSP00000381333:p.Arg422His					CRHR1_ENST00000293493.7_Missense_Mutation_p.R218H|CRHR1_ENST00000577353.1_Missense_Mutation_p.R379H|CRHR1_ENST00000398285.3_Missense_Mutation_p.R422H|CRHR1_ENST00000352855.5_Missense_Mutation_p.R353H|CRHR1_ENST00000339069.5_Missense_Mutation_p.V247M	p.R393H	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	13	1403	+	Colorectal(2;0.0416)		422					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.1178G>A	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.668774|4.668774	0.88348|0.88348	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855|ENST00000339069	T;T;T;T|T	0.73575|0.50277	-0.76;-0.76;-0.76;-0.76|0.75	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.171961|.	0.52532|.	D|.	0.000063|.	T|T	0.47673|0.47673	0.1458|0.1458	M|M	0.68593|0.68593	2.085|2.085	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D|P	0.89917|0.35793	1.0;1.0;0.974;0.998;1.0|0.521	D;D;P;D;D|B	0.68483|0.31337	0.958;0.957;0.731;0.938;0.958|0.128	T|T	0.55798|0.55798	-0.8084|-0.8084	10|9	0.46703|0.87932	T|D	0.11|0	.|.	16.3315|16.3315	0.83023|0.83023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	379;422;292;353;393|247	P34998-4;P34998;B3TIK8;P34998-3;P34998-2|B4DMR5	.;CRFR1_HUMAN;.;.;.|.	H|M	218;422;393;379;353|247	ENSP00000293493:R218H;ENSP00000381333:R422H;ENSP00000326060:R393H;ENSP00000344068:R353H|ENSP00000340522:V247M	ENSP00000293493:R218H|ENSP00000340522:V247M	R|V	+|+	2|1	0|0	CRHR1|CRHR1	41267841|41267841	0.982000|0.982000	0.34865|0.34865	0.985000|0.985000	0.45067|0.45067	0.793000|0.793000	0.44817|0.44817	5.316000|5.316000	0.65815|0.65815	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	CGT|GTG		0.627	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			16	36	0	0	0	1	0	16	36				
TPX2	22974	broad.mit.edu	37	20	30366768	30366768	+	Missense_Mutation	SNP	G	G	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr20:30366768G>T	ENST00000300403.6	+	10	1563	c.1035G>T	c.(1033-1035)agG>agT	p.R345S	TPX2_ENST00000340513.4_Missense_Mutation_p.R345S	NM_012112.4	NP_036244.2	Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	345					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|regulation of mitotic spindle organization (GO:0060236)	axon hillock (GO:0043203)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ATCATTTGAGGAGCAAGAAGG	0.398																																						ENST00000340513.4																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						c.(1033-1035)agG>agT		TPX2, microtubule-associated							94.0	88.0	90.0					20																	30366768		2203	4300	6503	SO:0001583	missense	22974				activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding	g.chr20:30366768G>T	AF098158	CCDS13190.1	20q11.2	2013-07-23	2013-07-23	2003-10-08	ENSG00000088325	ENSG00000088325			1249	protein-coding gene	gene with protein product		605917	"""chromosome 20 open reading frame 1"", ""TPX2, microtubule-associated, homolog (Xenopus laevis)"""	C20orf2, C20orf1		9207457, 10393424	Standard	NM_012112		Approved	p100, DIL-2	uc002wwp.1	Q9ULW0	OTTHUMG00000032190	ENST00000300403.6:c.1035G>T	20.37:g.30366768G>T	ENSP00000300403:p.Arg345Ser					TPX2_ENST00000300403.6_Missense_Mutation_p.R345S	p.R345S			Q9ULW0	TPX2_HUMAN	Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)		10	1563	+			345					Q9H1R4|Q9NRA3|Q9UFN9|Q9UL00|Q9Y2M1	Missense_Mutation	SNP	ENST00000300403.6	37	c.1035G>T	CCDS13190.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458407	0.63401	.	.	ENSG00000088325	ENST00000300403;ENST00000340513	T	0.42900	0.96	4.93	3.98	0.46160	.	0.051609	0.85682	D	0.000000	T	0.60405	0.2266	M	0.72894	2.215	0.52501	D	0.999958	D;P	0.76494	0.999;0.911	D;B	0.78314	0.991;0.219	T	0.63567	-0.6608	10	0.66056	D	0.02	-18.8146	10.7304	0.46093	0.089:0.0:0.911:0.0	.	345;345	Q96RR5;Q9ULW0	.;TPX2_HUMAN	S	345	ENSP00000341145:R345S	ENSP00000300403:R345S	R	+	3	2	TPX2	29830429	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.821000	0.27338	1.440000	0.47531	-0.140000	0.14226	AGG		0.398	TPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078569.2			9	56	1	0	0.335167	1	0.335167	9	56				
ABCA12	26154	broad.mit.edu	37	2	215847076	215847076	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr2:215847076G>A	ENST00000272895.7	-	30	4633	c.4414C>T	c.(4414-4416)Cgt>Tgt	p.R1472C	ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1472	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTCTTATGACGATGGCTATAT	0.343																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4414-4416)Cgt>Tgt		ATP-binding cassette, sub-family A (ABC1), member 12							139.0	128.0	132.0					2																	215847076		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215847076G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4414C>T	2.37:g.215847076G>A	ENSP00000272895:p.Arg1472Cys					ABCA12_ENST00000389661.4_Missense_Mutation_p.R1154C	p.R1472C	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	30	4633	-		Renal(323;0.127)	1472			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.4414C>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943906	0.73672	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.93659	-3.26;-3.26	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.162847	0.44688	D	0.000439	D	0.96744	0.8937	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.944	D	0.96534	0.9395	10	0.72032	D	0.01	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	1472;1154	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	C	1472;1154	ENSP00000272895:R1472C;ENSP00000374312:R1154C	ENSP00000272895:R1472C	R	-	1	0	ABCA12	215555321	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.966000	0.70395	2.941000	0.99782	0.655000	0.94253	CGT		0.343	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		23	41	0	0	0	1	0	23	41				
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	180								p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.E180G(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(538-540)gAa>gGa																																						SO:0001583	missense	284802							g.chr20:29633900A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.539A>G	20.37:g.29633900A>G	ENSP00000278882:p.Glu180Gly					FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G	p.E180G							9	919	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.539A>G		.	.	.	.	.	.	.	.	.	.	a	9.128	1.010735	0.19277	.	.	ENSG00000149531	ENST00000278882;ENST00000358464	.	.	.	1.62	1.62	0.23740	.	.	.	.	.	T	0.41351	0.1155	.	.	.	0.21697	N	0.999586	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	7.2988	0.26408	1.0:0.0:0.0:0.0	rs60081496	.	.	.	G	180	.	ENSP00000278882:E180G	E	+	2	0	FRG1B	28247561	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.560000	0.60802	0.995000	0.38917	0.411000	0.27672	GAA		0.264	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	79	0	0	0	1	0	4	79				
SDC2	6383	broad.mit.edu	37	8	97621721	97621721	+	Missense_Mutation	SNP	G	G	T	rs183417451		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:97621721G>T	ENST00000302190.4	+	5	1472	c.551G>T	c.(550-552)cGc>cTc	p.R184L	SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000519914.1_Missense_Mutation_p.R155L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN	syndecan 2	184					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dendrite morphogenesis (GO:0048813)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|regulation of dendrite morphogenesis (GO:0048814)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	CTTGGAGAACGCAAACCATCC	0.413													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16748	0.0		0.0	False		,,,				2504	0.0					ENST00000302190.4																			0				breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16						c.(550-552)cGc>cTc		syndecan 2	Sargramostim(DB00020)						129.0	114.0	119.0					8																	97621721		2203	4300	6503	SO:0001583	missense	6383					integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding	g.chr8:97621721G>T	BC030133	CCDS6272.1	8q22-q23	2011-08-11	2007-02-15		ENSG00000169439	ENSG00000169439		"""Proteoglycans / Cell Surface : Syndecans"", ""CD molecules"""	10659	protein-coding gene	gene with protein product	"""syndecan proteoglycan 2"""	142460	"""heparan sulfate proteoglycan 1, cell surface-associated"""	HSPG, HSPG1		8187643	Standard	NM_002998		Approved	fibroglycan, SYND2, CD362	uc003yhv.1	P34741	OTTHUMG00000164689	ENST00000302190.4:c.551G>T	8.37:g.97621721G>T	ENSP00000307046:p.Arg184Leu					SDC2_ENST00000522911.1_Missense_Mutation_p.R155L|SDC2_ENST00000518385.1_Missense_Mutation_p.R148L|SDC2_ENST00000519914.1_Missense_Mutation_p.R155L	p.R184L	NM_002998.3	NP_002989.2	P34741	SDC2_HUMAN			5	1472	+	Breast(36;3.41e-05)		184					B3KQA3|Q6PIS6|Q9H6V1	Missense_Mutation	SNP	ENST00000302190.4	37	c.551G>T	CCDS6272.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	17.58	3.424369	0.62733	.	.	ENSG00000169439	ENST00000302190;ENST00000518385;ENST00000545117;ENST00000546193;ENST00000522911;ENST00000519914	T;T;T;T	0.34472	1.36;1.43;1.38;1.38	6.05	6.05	0.98169	Neurexin/syndecan/glycophorin C (1);	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	T	0.56679	-0.7939	10	0.56958	D	0.05	-10.3267	16.0133	0.80420	0.0:0.1336:0.8664:0.0	.	184	P34741	SDC2_HUMAN	L	184;148;184;174;155;155	ENSP00000307046:R184L;ENSP00000429045:R148L;ENSP00000427784:R155L;ENSP00000428256:R155L	ENSP00000307046:R184L	R	+	2	0	SDC2	97690897	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.845000	0.86875	2.878000	0.98634	0.650000	0.86243	CGC		0.413	SDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379750.1	NM_002998		31	41	1	0	2.08457e-15	1	2.21485e-15	31	41				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		3	40	0	0	0	1	0	3	40				
TSHZ1	10194	broad.mit.edu	37	18	72998961	72998961	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr18:72998961C>G	ENST00000580243.1	+	2	1947	c.1599C>G	c.(1597-1599)taC>taG	p.Y533*	TSHZ1_ENST00000322038.5_Nonsense_Mutation_p.Y488*			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	533					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GCACCCTGTACCCGTACCTGC	0.587																																						ENST00000322038.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42						c.(1462-1464)taC>taG		teashirt zinc finger homeobox 1							113.0	115.0	114.0					18																	72998961		2203	4300	6503	SO:0001587	stop_gained	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998961C>G	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1599C>G	18.37:g.72998961C>G	ENSP00000464391:p.Tyr533*					TSHZ1_ENST00000580243.1_Nonsense_Mutation_p.Y533*	p.Y488*	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	2048	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	533					O60534|Q4LE29|Q53EU4	Nonsense_Mutation	SNP	ENST00000580243.1	37	c.1464C>G		.	.	.	.	.	.	.	.	.	.	C	35	5.476451	0.96291	.	.	ENSG00000179981	ENST00000322038	.	.	.	5.59	0.474	0.16768	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.029	8.604	0.33762	0.0:0.3796:0.0:0.6204	.	.	.	.	X	488	.	ENSP00000323584:Y488X	Y	+	3	2	TSHZ1	71127949	1.000000	0.71417	0.992000	0.48379	0.276000	0.26787	1.200000	0.32247	2.625000	0.88918	0.561000	0.74099	TAC		0.587	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		29	54	0	0	0	1	0	29	54				
TEX14	56155	broad.mit.edu	37	17	56699053	56699053	+	Missense_Mutation	SNP	C	C	T			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr17:56699053C>T	ENST00000240361.8	-	5	597	c.512G>A	c.(511-513)cGg>cAg	p.R171Q	TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q|TEX14_ENST00000389934.3_Missense_Mutation_p.R171Q			Q8IWB6	TEX14_HUMAN	testis expressed 14	171					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAGACAAGCCGCTGCGGGGA	0.587																																						ENST00000389934.3																			0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(511-513)cGg>cAg		testis expressed 14							66.0	57.0	60.0					17																	56699053		2203	4300	6503	SO:0001583	missense	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56699053C>T	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.512G>A	17.37:g.56699053C>T	ENSP00000240361:p.Arg171Gln					TEX14_ENST00000240361.8_Missense_Mutation_p.R171Q|TEX14_ENST00000349033.5_Missense_Mutation_p.R171Q	p.R171Q	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN			5	629	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		171					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	ENST00000240361.8	37	c.512G>A	CCDS56042.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570992	0.28003	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.80393	-1.36;-1.37;-1.3	5.42	4.46	0.54185	.	0.308600	0.27464	N	0.019246	T	0.66877	0.2834	L	0.32530	0.975	0.22050	N	0.999396	B;B;B	0.23316	0.05;0.083;0.083	B;B;B	0.16722	0.007;0.016;0.016	T	0.54662	-0.8260	10	0.35671	T	0.21	-9.0002	5.138	0.14945	0.1467:0.6316:0.1422:0.0796	.	171;171;171	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	Q	171	ENSP00000240361:R171Q;ENSP00000374584:R171Q;ENSP00000268910:R171Q	ENSP00000240361:R171Q	R	-	2	0	TEX14	54054052	0.662000	0.27439	0.998000	0.56505	0.155000	0.21991	0.185000	0.16958	1.426000	0.47256	-0.244000	0.11960	CGG		0.587	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1			12	28	0	0	0	1	0	12	28				
OGT	8473	broad.mit.edu	37	X	70767856	70767856	+	Missense_Mutation	SNP	A	A	G			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:70767856A>G	ENST00000373719.3	+	5	848	c.631A>G	c.(631-633)Att>Gtt	p.I211V	OGT_ENST00000373701.3_Missense_Mutation_p.I201V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	211					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTGGCTTGCAATTCATCACTT	0.353																																						ENST00000373719.3																			0				breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(631-633)Att>Gtt		O-linked N-acetylglucosamine (GlcNAc) transferase							124.0	114.0	118.0					X																	70767856		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70767856A>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.631A>G	X.37:g.70767856A>G	ENSP00000362824:p.Ile211Val					OGT_ENST00000373701.3_Missense_Mutation_p.I201V	p.I211V	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			5	848	+	Renal(35;0.156)		211					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.631A>G	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	a	14.06	2.424036	0.43020	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.61742	0.08;0.08	5.07	5.07	0.68467	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.59183	0.2175	L	0.31371	0.925	0.80722	D	1	B;B;P	0.43231	0.085;0.218;0.801	B;B;P	0.54270	0.069;0.114;0.747	T	0.56992	-0.7887	10	0.32370	T	0.25	-32.3583	13.9865	0.64339	1.0:0.0:0.0:0.0	.	85;201;211	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	V	211;201	ENSP00000362824:I211V;ENSP00000362805:I201V	ENSP00000362805:I201V	I	+	1	0	OGT	70684581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.135000	0.94478	1.878000	0.54408	0.478000	0.44815	ATT		0.353	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		47	17	0	0	0	1	0	47	17				
PRB2	653247	broad.mit.edu	37	12	11546415	11546415	+	Silent	SNP	T	T	C			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr12:11546415T>C	ENST00000389362.4	-	3	632	c.597A>G	c.(595-597)ggA>ggG	p.G199G	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	199	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTGTGGCTTTCCTGGAGGAG	0.597																																						ENST00000389362.4																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37						c.(595-597)ggA>ggG		proline-rich protein BstNI subfamily 2							81.0	85.0	84.0					12																	11546415		2109	4178	6287	SO:0001819	synonymous_variant	653247							g.chr12:11546415T>C	K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.597A>G	12.37:g.11546415T>C						PRB1_ENST00000546254.1_Intron	p.G199G	NM_006248.3	NP_006239.3			OV - Ovarian serous cystadenocarcinoma(49;0.185)		3	632	-		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)						O00599|P02811|P04281	Silent	SNP	ENST00000389362.4	37	c.597A>G	CCDS41757.2																																																																																				0.597	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248		54	120	0	0	0	1	0	54	120				
MYOM3	127294	broad.mit.edu	37	1	24392434	24392434	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr1:24392434G>A	ENST00000374434.3	-	29	3643	c.3481C>T	c.(3481-3483)Cca>Tca	p.P1161S	MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000330966.7_Missense_Mutation_p.P1164S|RP11-293P20.4_ENST00000429191.1_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	1161	Ig-like C2-type 3.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGACCATCTGGCATCTCTGCC	0.542																																						ENST00000330966.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(3490-3492)Cca>Tca		myomesin 3							155.0	152.0	153.0					1																	24392434		1944	4136	6080	SO:0001583	missense	127294							g.chr1:24392434G>A	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3481C>T	1.37:g.24392434G>A	ENSP00000363557:p.Pro1161Ser					RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.P1163S|MYOM3_ENST00000338909.5_Missense_Mutation_p.P54S|MYOM3_ENST00000374434.3_Missense_Mutation_p.P1161S	p.P1164S			Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	29	3652	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	1161			Ig-like C2-type 3.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.3490C>T	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	7.733	0.699596	0.15106	.	.	ENSG00000142661	ENST00000338909;ENST00000374434;ENST00000330966;ENST00000374442;ENST00000329601	T;T;T;T	0.54279	2.04;2.8;2.8;0.58	5.76	4.85	0.62838	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.257228	0.38272	N	0.001753	T	0.33206	0.0855	L	0.41710	1.295	0.21220	N	0.999753	B;B;B	0.31153	0.02;0.31;0.041	B;B;B	0.27887	0.018;0.084;0.032	T	0.25916	-1.0118	10	0.06625	T	0.88	.	4.6273	0.12484	0.1362:0.1224:0.6147:0.1267	.	1161;1161;54	Q5VTT5-2;Q5VTT5;Q5VTT5-3	.;MYOM3_HUMAN;.	S	54;1161;1164;54;1163	ENSP00000342689:P54S;ENSP00000363557:P1161S;ENSP00000332670:P1164S;ENSP00000328415:P1163S	ENSP00000328415:P1163S	P	-	1	0	MYOM3	24265021	0.989000	0.36119	0.052000	0.19188	0.010000	0.07245	2.093000	0.41710	1.449000	0.47699	-0.119000	0.15052	CCA		0.542	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		37	98	0	0	0	1	0	37	98				
BMP1	649	broad.mit.edu	37	8	22067192	22067192	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr8:22067192G>A	ENST00000306385.5	+	19	3480	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	937	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		AGGCTGGGGCGCTACTGTGGC	0.657																																						ENST00000306385.5																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30						c.(2809-2811)cGc>cAc		bone morphogenetic protein 1							92.0	90.0	91.0					8																	22067192		2203	4300	6503	SO:0001583	missense	649				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding	g.chr8:22067192G>A		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.2810G>A	8.37:g.22067192G>A	ENSP00000305714:p.Arg937His					BMP1_ENST00000354870.5_3'UTR	p.R937H	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN		Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)	19	3480	+			937			CUB 5.		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.2810G>A	CCDS6026.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082991	0.76642	.	.	ENSG00000168487	ENST00000306385	T	0.20069	2.1	4.64	4.64	0.57946	CUB (5);	0.000000	0.39274	U	0.001412	T	0.31857	0.0810	M	0.90252	3.1	0.80722	D	1	P	0.47409	0.895	B	0.36186	0.219	T	0.53683	-0.8404	10	0.59425	D	0.04	.	16.4279	0.83824	0.0:0.0:1.0:0.0	.	937	P13497	BMP1_HUMAN	H	937	ENSP00000305714:R937H	ENSP00000305714:R937H	R	+	2	0	BMP1	22123137	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.657000	0.98554	2.411000	0.81874	0.467000	0.42956	CGC		0.657	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132		40	53	0	0	0	1	0	40	53				
ENC1	8507	broad.mit.edu	37	5	73931637	73931637	+	Missense_Mutation	SNP	C	C	T	rs61758147		TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr5:73931637C>T	ENST00000302351.4	-	2	1804	c.674G>A	c.(673-675)cGc>cAc	p.R225H	ENC1_ENST00000537006.1_Missense_Mutation_p.R225H|ENC1_ENST00000510316.1_Missense_Mutation_p.R152H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	225					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R225H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		GTAGCAATAGCGCTTCTTCAG	0.493																																						ENST00000302351.4																			1	Substitution - Missense(1)	p.R225H(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(673-675)cGc>cAc		ectodermal-neural cortex 1 (with BTB domain)							87.0	85.0	86.0					5																	73931637		2203	4300	6503	SO:0001583	missense	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931637C>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.674G>A	5.37:g.73931637C>T	ENSP00000306356:p.Arg225His					ENC1_ENST00000510316.1_Missense_Mutation_p.R152H|ENC1_ENST00000537006.1_Missense_Mutation_p.R225H	p.R225H	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	1804	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	225					B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	ENST00000302351.4	37	c.674G>A	CCDS4021.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697387	0.88830	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.73897	-0.79;-0.79;-0.79	5.8	5.8	0.92144	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.89269	0.6667	M	0.91196	3.185	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.90833	0.4718	10	0.87932	D	0	.	20.0537	0.97638	0.0:1.0:0.0:0.0	rs61758147	225	O14682	ENC1_HUMAN	H	225;152;225	ENSP00000306356:R225H;ENSP00000423804:R152H;ENSP00000446289:R225H	ENSP00000306356:R225H	R	-	2	0	ENC1	73967393	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.758000	0.94735	0.561000	0.74099	CGC		0.493	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		13	40	0	0	0	1	0	13	40				
PSAT1	29968	broad.mit.edu	37	9	80923397	80923397	+	Missense_Mutation	SNP	G	G	A			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr9:80923397G>A	ENST00000376588.3	+	6	706	c.638G>A	c.(637-639)cGt>cAt	p.R213H	PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	213					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTGATTGTCCGTGATGACCTG	0.522																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(637-639)cGt>cAt		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						144.0	122.0	129.0					9																	80923397		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80923397G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.638G>A	9.37:g.80923397G>A	ENSP00000365773:p.Arg213His					PSAT1_ENST00000347159.2_Missense_Mutation_p.R213H	p.R213H	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			6	706	+			213					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.638G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	36	5.622463	0.96660	.	.	ENSG00000135069	ENST00000421149;ENST00000347159;ENST00000376588	T;T	0.67171	-0.25;-0.25	5.59	5.59	0.84812	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.000000	0.85682	D	0.000000	D	0.83289	0.5222	M	0.83118	2.625	0.80722	D	1	D;P	0.89917	1.0;0.937	D;P	0.65443	0.935;0.549	D	0.85369	0.1112	10	0.87932	D	0	-0.1772	19.5905	0.95508	0.0:0.0:1.0:0.0	.	213;213	Q9Y617-2;Q9Y617	.;SERC_HUMAN	H	37;213;213	ENSP00000317606:R213H;ENSP00000365773:R213H	ENSP00000317606:R213H	R	+	2	0	PSAT1	80113217	1.000000	0.71417	0.923000	0.36655	0.975000	0.68041	9.409000	0.97331	2.638000	0.89438	0.557000	0.71058	CGT		0.522	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		21	40	0	0	0	1	0	21	40				
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			3	3						3	3	---	---	---	---
RP5-921G16.1	0	broad.mit.edu	37	7	123757438	123757438	+	RNA	DEL	T	T	-			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr7:123757438delT	ENST00000484322.1	+	0	168																											ccaataattattttagagtga	0.502																																						ENST00000484322.1																			0																																																			0							g.chr7:123757438delT																													7.37:g.123757438delT														0	168	+									RNA	DEL	ENST00000484322.1	37																																																																																						0.502	RP5-921G16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000348433.1			2	4						2	4	---	---	---	---
AP003900.6	0	broad.mit.edu	37	21	11180761	11180762	+	lincRNA	INS	-	-	T	rs146742149|rs71326382|rs554771783|rs397812831|rs57614429	byFrequency	TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chr21:11180761_11180762insT	ENST00000603265.1	+	0	231																											aaACTAACTTCTTTTTTTTTTT	0.347																																						ENST00000603265.1																			0																																																			0							g.chr21:11180761_11180762insT																													21.37:g.11180772_11180772dupT														0	231	+									RNA	INS	ENST00000603265.1	37																																																																																						0.347	AP003900.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469752.1			5	7						5	7	---	---	---	---
AMMECR1	9949	broad.mit.edu	37	X	109561207	109561209	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-P8-A6RX-01A-11D-A35D-08	TCGA-P8-A6RX-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7d3248-95e1-4538-bfb3-f8c30c327fe0	fb464a7f-6991-43d5-b642-def477d6ca52	g.chrX:109561207_109561209delGGA	ENST00000262844.5	-	1	258_260	c.91_93delTCC	c.(91-93)tccdel	p.S31del	AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000496695.1_5'Flank|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	31	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CGCTGCAGTGGGAGGAGGAGGAG	0.68																																						ENST00000262844.5																			0				large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						c.(91-93)del		Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1			,,	2,55,3416		0,0,1,1,5,34,11,1461,459					,,	4.6	1.0			8	1,159,5901		0,0,1,0,5,91,58,2161,1487	no	codingComplex,intron,codingComplex	AMMECR1	NM_015365.2,NM_001171689.1,NM_001025580.1	,,	0,0,2,1,10,125,69,3622,1946	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		2.6398,1.6412,2.2761	,,	,,		3,214,9317				SO:0001651	inframe_deletion	9949							g.chrX:109561207_109561209delGGA	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.91_93delTCC	X.37:g.109561216_109561218delGGA	ENSP00000262844:p.Ser31del					AMMECR1_ENST00000372057.1_Intron|AMMECR1_ENST00000372059.2_In_Frame_Del_p.S31del	p.S31del	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN			1	258_260	-			31			Gly/Ser-rich.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.91_93delTCC	CCDS14551.1																																																																																				0.680	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			3	3						3	3	---	---	---	---
