#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
NFIA	4774	broad.mit.edu	37	1	61818241	61818241	+	Splice_Site	SNP	T	T	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:61818241T>G	ENST00000403491.3	+	5	1302		c.e5+2		NFIA_ENST00000371185.2_Splice_Site|NFIA_ENST00000485903.2_Splice_Site|NFIA_ENST00000371187.3_Splice_Site|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000407417.3_Splice_Site|NFIA_ENST00000371189.4_Splice_Site|NFIA_ENST00000479364.1_Splice_Site|NFIA_ENST00000371191.1_Splice_Site	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A						DNA replication (GO:0006260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to organic cyclic compound (GO:0014070)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTCTACGAGGTAATTTTATTG	0.418																																						ENST00000403491.3																		NFIA/EHF(2)	0				endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						c.e5+2		nuclear factor I/A							81.0	79.0	80.0					1																	61818241		2203	4300	6503	SO:0001630	splice_region_variant	4774				DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr1:61818241T>G	U07809	CCDS615.1, CCDS44156.1, CCDS53322.1, CCDS53321.1	1p31.3-p31.2	2008-02-05			ENSG00000162599	ENSG00000162599			7784	protein-coding gene	gene with protein product		600727				7590749	Standard	NM_001134673		Approved	NFI-L, KIAA1439	uc010oos.2	Q12857	OTTHUMG00000008618	ENST00000403491.3:c.818+2T>G	1.37:g.61818241T>G						NFIA_ENST00000371189.4_Splice_Site|NFIA_ENST00000371191.1_Splice_Site|NFIA_ENST00000485903.2_Splice_Site|NFIA_ENST00000479364.1_Splice_Site|NFIA_ENST00000407417.3_Splice_Site|NFIA_ENST00000371185.2_Splice_Site|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000371187.3_Splice_Site		NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN			5	1302	+								B4DRJ3|B4DS53|F5H0R0|F8W8W3|Q8TA97|Q9H3X9|Q9P2A9	Splice_Site	SNP	ENST00000403491.3	37		CCDS44156.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168710	0.78339	.	.	ENSG00000162599	ENST00000371191;ENST00000407417;ENST00000371189;ENST00000403491;ENST00000485903;ENST00000371185;ENST00000371187	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2291	0.82321	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NFIA	61590829	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.414000	0.80117	2.238000	0.73509	0.528000	0.53228	.		0.418	NFIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023799.3	NM_005595	Intron	3	70	0	0	0	1	0	3	70				
MCOLN3	55283	broad.mit.edu	37	1	85486891	85486891	+	Silent	SNP	C	C	T	rs190549172	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:85486891C>T	ENST00000370589.2	-	12	1441	c.1389G>A	c.(1387-1389)acG>acA	p.T463T	MCOLN3_ENST00000474447.1_5'UTR|MCOLN3_ENST00000341115.4_Silent_p.T407T|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	463					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TTTTTGCAAACGTGGCAAACA	0.338													C|||	5	0.000998403	0.0	0.0	5008	,	,		19663	0.002		0.0	False		,,,				2504	0.0031					ENST00000370589.2																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(1387-1389)acG>acA		mucolipin 3		C		0,4406		0,0,2203	87.0	90.0	89.0		1389	0.4	1.0	1		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MCOLN3	NM_018298.9		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		463/554	85486891	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55283					integral to membrane	ion channel activity	g.chr1:85486891C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.1389G>A	1.37:g.85486891C>T						MCOLN3_ENST00000341115.4_Silent_p.T407T|MCOLN3_ENST00000474447.1_5'UTR|WDR63_ENST00000370596.1_Intron	p.T463T	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	12	1441	-			463					Q5T4H5|Q5T4H6|Q9NV09	Silent	SNP	ENST00000370589.2	37	c.1389G>A	CCDS701.1																																																																																				0.338	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298		5	62	0	0	0	1	0	5	62				
COL12A1	1303	broad.mit.edu	37	6	75887568	75887568	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:75887568C>G	ENST00000322507.8	-	12	2557	c.2248G>C	c.(2248-2250)Gtt>Ctt	p.V750L	COL12A1_ENST00000416123.2_Missense_Mutation_p.V750L|COL12A1_ENST00000483888.2_Missense_Mutation_p.V750L|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	750	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATCTTAAAACTCTCCCTGGA	0.413																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2248-2250)Gtt>Ctt		collagen, type XII, alpha 1							152.0	150.0	151.0					6																	75887568		1848	4098	5946	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75887568C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2248G>C	6.37:g.75887568C>G	ENSP00000325146:p.Val750Leu					COL12A1_ENST00000416123.2_Missense_Mutation_p.V750L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.V750L	p.V750L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			12	2557	-			750			Fibronectin type-III 4.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2248G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301152	0.95601	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.57436	0.4;0.4;0.4	5.87	5.87	0.94306	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000007	T	0.69797	0.3151	M	0.72576	2.205	0.58432	D	0.999998	D;D	0.71674	0.998;0.998	D;D	0.83275	0.996;0.996	T	0.71251	-0.4648	10	0.87932	D	0	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	750;750	D6RGG3;Q99715	.;COCA1_HUMAN	L	750	ENSP00000325146:V750L;ENSP00000412864:V750L;ENSP00000421216:V750L	ENSP00000325146:V750L	V	-	1	0	COL12A1	75944288	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.277000	0.78572	2.775000	0.95449	0.650000	0.86243	GTT		0.413	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		8	147	0	0	0	1	0	8	147				
CNTNAP5	129684	broad.mit.edu	37	2	125262060	125262060	+	Silent	SNP	G	G	T			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:125262060G>T	ENST00000431078.1	+	8	1615	c.1251G>T	c.(1249-1251)ctG>ctT	p.L417L		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	417	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GAACCCTGCTGCTGAGCCTGG	0.522																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1249-1251)ctG>ctT		contactin associated protein-like 5							71.0	74.0	73.0					2																	125262060		1960	4151	6111	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125262060G>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1251G>T	2.37:g.125262060G>T							p.L417L	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1615	+			417			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1251G>T	CCDS46401.1																																																																																				0.522	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			9	57	1	0	0.00448238	1	0.00461045	9	57				
SERPINE1	5054	broad.mit.edu	37	7	100779051	100779051	+	Silent	SNP	C	C	T	rs538551265		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr7:100779051C>T	ENST00000223095.4	+	7	1213	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	SERPINE1_ENST00000445463.2_Silent_p.N337N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	352					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCGAGGTGAACGAGAGTGGCA	0.582																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1054-1056)aaC>aaT		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						86.0	77.0	80.0					7																	100779051		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779051C>T	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1056C>T	7.37:g.100779051C>T						SERPINE1_ENST00000445463.2_Silent_p.N337N	p.N352N	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1213	+	Lung NSC(181;0.136)|all_lung(186;0.182)		352					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1056C>T	CCDS5711.1																																																																																				0.582	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		5	50	0	0	0	1	0	5	50				
PAQR6	79957	broad.mit.edu	37	1	156213664	156213664	+	3'UTR	SNP	C	C	T	rs535452914		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr1:156213664C>T	ENST00000292291.5	-	0	1449				PAQR6_ENST00000356983.2_Silent_p.A348A|PAQR6_ENST00000335852.1_Silent_p.A348A|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000368270.1_3'UTR	NM_001272104.1|NM_001272105.1|NM_198406.2	NP_001259033.1|NP_001259034.1|NP_940798.1	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI							integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					AGCCTGGACACGCATGCATCT	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		17951	0.0		0.0	False		,,,				2504	0.001				GBM(16;219 398 12385 32425 38531)	ENST00000335852.1																			0				lung(4)|ovary(1)	5						c.(1042-1044)gcG>gcA		progestin and adipoQ receptor family member VI							245.0	263.0	257.0					1																	156213664		2203	4300	6503	SO:0001624	3_prime_UTR_variant	79957					integral to membrane	receptor activity	g.chr1:156213664C>T	AF455045	CCDS1135.1, CCDS1136.1, CCDS60301.1, CCDS72945.1, CCDS72946.1	1q23	2008-02-05			ENSG00000160781	ENSG00000160781			30132	protein-coding gene	gene with protein product		614579				12477932	Standard	NM_024897		Approved	FLJ22672	uc010phh.2	Q6TCH4	OTTHUMG00000017490	ENST00000292291.5:c.*256G>A	1.37:g.156213664C>T						PAQR6_ENST00000368270.1_3'UTR|PAQR6_ENST00000492619.1_5'UTR|PAQR6_ENST00000356983.2_Silent_p.A348A|PAQR6_ENST00000360733.2_Silent_p.A348A|PAQR6_ENST00000292291.5_3'UTR	p.A348A	NM_024897.2	NP_079173.2	Q6TCH4	PAQR6_HUMAN			7	1659	-	Hepatocellular(266;0.158)		0					B7Z9R9|D3DVB4|D3DVB6|Q5TCK9|Q6PDU0|Q7Z4Q7|Q7Z4Q9|Q8N121|Q8N3M2|Q9H621	Silent	SNP	ENST00000292291.5	37	c.1044G>A	CCDS1136.1																																																																																				0.582	PAQR6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046297.2	NM_024897		12	202	0	0	0	1	0	12	202				
MTUS2	23281	broad.mit.edu	37	13	29599806	29599806	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr13:29599806G>A	ENST00000431530.3	+	1	1059	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	324						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAACAGGAGGGAAAGGCAGCC	0.532																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1000-1002)gGa>gAa		microtubule associated tumor suppressor candidate 2							49.0	51.0	50.0					13																	29599806		1962	4143	6105	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599806G>A	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1001G>A	13.37:g.29599806G>A	ENSP00000392057:p.Gly334Glu						p.G334E	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1059	+			324					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1001G>A	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	g	10.06	1.246543	0.22796	.	.	ENSG00000132938	ENST00000431530	T	0.11063	2.81	5.47	-0.0459	0.13849	.	2.907410	0.01056	N	0.004543	T	0.09774	0.0240	L	0.44542	1.39	0.09310	N	1	B	0.23442	0.085	B	0.21917	0.037	T	0.29212	-1.0019	9	.	.	.	.	1.7737	0.03017	0.1382:0.1642:0.1362:0.5614	.	324	Q5JR59	MTUS2_HUMAN	E	334	ENSP00000392057:G334E	.	G	+	2	0	MTUS2	28497806	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.321000	0.19558	0.382000	0.24878	-0.262000	0.10625	GGA		0.532	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		6	30	0	0	0	1	0	6	30				
CCDC8	83987	broad.mit.edu	37	19	46914722	46914722	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr19:46914722G>A	ENST00000307522.3	-	1	2119	c.1346C>T	c.(1345-1347)cCa>cTa	p.P449L		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	449					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGGATACCTGGGGCCCCTGC	0.627																																						ENST00000307522.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1345-1347)cCa>cTa		coiled-coil domain containing 8							56.0	53.0	54.0					19																	46914722		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914722G>A	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1346C>T	19.37:g.46914722G>A	ENSP00000303158:p.Pro449Leu						p.P449L	NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2119	-			449					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1346C>T	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.54|10.54	1.379108|1.379108	0.24944|0.24944	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.11169|.	2.8|.	2.56|2.56	0.183|0.183	0.15082|0.15082	.|.	2.636380|.	0.01805|.	N|.	0.033142|.	T|.	0.38719|.	0.1051|.	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.08055|.	0.003|.	T|.	0.33394|.	-0.9870|.	10|.	0.38643|0.41790	T|T	0.18|0.15	7.5679|7.5679	6.0203|6.0203	0.19625|0.19625	0.323:0.0:0.677:0.0|0.323:0.0:0.677:0.0	.|.	449|.	Q9H0W5|.	CCDC8_HUMAN|.	L|X	449|296	ENSP00000303158:P449L|.	ENSP00000303158:P449L|ENSP00000441180:Q296X	P|Q	-|-	2|1	0|0	CCDC8|CCDC8	51606562|51606562	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-0.001000|-0.001000	0.12947|0.12947	0.109000|0.109000	0.17891|0.17891	-0.367000|-0.367000	0.07326|0.07326	CCA|CAG		0.627	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		8	29	0	0	0	1	0	8	29				
SCN1A	6323	broad.mit.edu	37	2	166900411	166900411	+	Missense_Mutation	SNP	C	C	T	rs121918769	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:166900411C>T	ENST00000303395.4	-	11	1810	c.1811G>A	c.(1810-1812)cGt>cAt	p.R604H	SCN1A_ENST00000409050.1_Missense_Mutation_p.R604H|SCN1A_ENST00000423058.2_Missense_Mutation_p.R604H|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.R604H			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	604			R -> H (in EIEE6; dbSNP:rs121918769). {ECO:0000269|PubMed:19589774}.		adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGAATCTCTACGGCTCTCGTT	0.532													C|||	7	0.00139776	0.0	0.0014	5008	,	,		20386	0.0		0.0	False		,,,				2504	0.0061					ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(1810-1812)cGt>cAt		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	174.0	150.0	158.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1811,1811,1811,1811	5.4	1.0	2	dbSNP_133	158	14,8586	10.5+/-38.8	0,14,4286	yes	missense,missense,missense,missense	SCN1A	NM_001165963.1,NM_001165964.1,NM_001202435.1,NM_006920.4	29,29,29,29	0,14,6489	TT,TC,CC		0.1628,0.0,0.1076	probably-damaging,probably-damaging,probably-damaging,probably-damaging	604/2010,604/1982,604/2010,604/1999	166900411	14,12992	2203	4300	6503	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166900411C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.1811G>A	2.37:g.166900411C>T	ENSP00000303540:p.Arg604His					SCN1A_ENST00000375405.3_Missense_Mutation_p.R604H|SCN1A_ENST00000409050.1_Missense_Mutation_p.R604H|SCN1A_ENST00000303395.4_Missense_Mutation_p.R604H|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA	p.R604H	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			11	1828	-			604		R -> H (in SMEI; uncertain pathological significance; dbSNP:rs121918769).			E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.1811G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305169	0.40795	0.0	0.001628	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94	5.37	5.37	0.77165	Domain of unknown function DUF3451 (1);	0.000000	0.64402	D	0.000009	D	0.94768	0.8311	M	0.64567	1.98	0.58432	D	0.999993	D;D;B	0.76494	0.999;0.999;0.219	P;D;B	0.64144	0.855;0.922;0.108	D	0.93070	0.6482	10	0.27082	T	0.32	.	19.0949	0.93246	0.0:1.0:0.0:0.0	.	604;604;604	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	H	604	ENSP00000407030:R604H;ENSP00000303540:R604H;ENSP00000364554:R604H;ENSP00000386312:R604H	ENSP00000303540:R604H	R	-	2	0	SCN1A	166608657	1.000000	0.71417	0.966000	0.40874	0.069000	0.16628	7.773000	0.85462	2.502000	0.84385	0.561000	0.74099	CGT		0.532	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		11	51	0	0	0	1	0	11	51				
MRVI1	10335	broad.mit.edu	37	11	10649268	10649268	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:10649268C>T	ENST00000436272.1	-	7	742	c.664G>A	c.(664-666)Gag>Aag	p.E222K	MRVI1_ENST00000552103.1_Missense_Mutation_p.E158K|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000532037.1_5'Flank|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.E249K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.E158K|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000421747.1_Missense_Mutation_p.E240K|MRVI1_ENST00000531107.1_Missense_Mutation_p.E241K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E249K|MRVI1_ENST00000547195.1_Missense_Mutation_p.E158K			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	222					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CTCACAGGCTCGCCAGGGTGA	0.557																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(472-474)Gag>Aag		murine retrovirus integration site 1 homolog							89.0	98.0	95.0					11																	10649268		2018	4171	6189	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10649268C>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.664G>A	11.37:g.10649268C>T	ENSP00000412229:p.Glu222Lys					MRVI1_ENST00000421747.1_Missense_Mutation_p.E240K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E158K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E158K|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000423302.2_Missense_Mutation_p.E249K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E249K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E222K|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.E241K	p.E158K	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	7	972	-			222			Interaction with PRKG1 (By similarity).		B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	C	13.09	2.133428	0.37630	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T	0.15139	3.1;3.12;2.52;2.52;2.92;2.45;3.1;2.52	4.28	1.43	0.22495	.	0.789898	0.12154	N	0.494613	T	0.11324	0.0276	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.12630	0.006;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.0;0.0;0.001	T	0.10497	-1.0627	10	0.37606	T	0.19	-4.5306	6.2848	0.21027	0.0:0.6907:0.0:0.3093	.	249;222;241;240	F5H6A1;Q9Y6F6;E9PQY6;Q9Y6F6-4	.;MRVI1_HUMAN;.;.	K	240;223;222;158;158;249;249;241;158	ENSP00000414598:E240K;ENSP00000412229:E222K;ENSP00000448278:E158K;ENSP00000446764:E158K;ENSP00000412130:E249K;ENSP00000437784:E249K;ENSP00000432436:E241K;ENSP00000432067:E158K	ENSP00000307885:E223K	E	-	1	0	MRVI1	10605844	0.984000	0.35163	0.983000	0.44433	0.974000	0.67602	0.352000	0.20113	0.361000	0.24292	0.655000	0.94253	GAG		0.557	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		16	50	0	0	0	1	0	16	50				
SIK3	23387	broad.mit.edu	37	11	116827691	116827691	+	Silent	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:116827691G>A	ENST00000292055.4	-	2	224	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_Silent_p.C121C|SIK3_ENST00000542607.1_Silent_p.C63C|SIK3_ENST00000446921.2_Silent_p.C121C|SIK3_ENST00000434315.2_5'UTR	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	63	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TATGGGGGTGGCAAAGCATCT	0.408																																						ENST00000375300.1																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(361-363)tgC>tgT		SIK family kinase 3							230.0	247.0	241.0					11																	116827691		2201	4296	6497	SO:0001819	synonymous_variant	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116827691G>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.189C>T	11.37:g.116827691G>A						SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000292055.4_Silent_p.C63C|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.C63C|SIK3_ENST00000446921.2_Silent_p.C121C	p.C121C			Q9Y2K2	SIK3_HUMAN			2	368	-			63			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Silent	SNP	ENST00000292055.4	37	c.363C>T	CCDS8379.1	.	.	.	.	.	.	.	.	.	.	G	10.26	1.301120	0.23650	.	.	ENSG00000160584	ENST00000445177;ENST00000446921;ENST00000413553	.	.	.	6.17	4.01	0.46588	.	.	.	.	.	T	0.62660	0.2446	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61554	-0.7039	4	.	.	.	.	11.5865	0.50920	0.2071:0.0:0.7929:0.0	.	.	.	.	S	115;86;24	.	.	P	-	1	0	SIK3	116332901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.560000	0.45896	1.630000	0.50440	0.655000	0.94253	CCA		0.408	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		5	259	0	0	0	1	0	5	259				
SECISBP2L	9728	broad.mit.edu	37	15	49288768	49288768	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr15:49288768A>C	ENST00000559471.1	-	17	2682	c.2419T>G	c.(2419-2421)Tta>Gta	p.L807V	Y_RNA_ENST00000384377.1_RNA|SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L762V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	807							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						AGTTCTACTAATTTATTAAAC	0.343																																						ENST00000559471.1																			0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2419-2421)Tta>Gta		SECIS binding protein 2-like							135.0	138.0	137.0					15																	49288768		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288768A>C	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2419T>G	15.37:g.49288768A>C	ENSP00000453854:p.Leu807Val					SECISBP2L_ENST00000261847.3_Missense_Mutation_p.L762V	p.L807V	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN			17	2682	-			807					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2419T>G	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354667	0.61293	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92752	-3.1	4.94	2.67	0.31697	.	0.000000	0.64402	D	0.000003	D	0.91700	0.7376	L	0.29908	0.895	0.44477	D	0.997414	D;D	0.89917	0.999;1.0	D;D	0.83275	0.968;0.996	D	0.89298	0.3624	10	0.52906	T	0.07	.	7.9605	0.30068	0.7408:0.0:0.2592:0.0	.	807;762	Q93073;Q93073-2	SBP2L_HUMAN;.	V	762;807	ENSP00000261847:L762V	ENSP00000261847:L762V	L	-	1	2	SECISBP2L	47076060	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.853000	0.48317	0.405000	0.25532	0.528000	0.53228	TTA		0.343	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		9	118	0	0	0	1	0	9	118				
UNC5D	137970	broad.mit.edu	37	8	35579908	35579908	+	Missense_Mutation	SNP	G	G	A	rs144081400	byFrequency	TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr8:35579908G>A	ENST00000404895.2	+	9	1626	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	UNC5D_ENST00000449677.1_5'Flank|UNC5D_ENST00000453357.2_Missense_Mutation_p.R428H|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366H|UNC5D_ENST00000416672.1_Missense_Mutation_p.R438H	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	433					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAAACAGTCCGTCAAGGTCAG	0.552																																						ENST00000453357.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1282-1284)cGt>cAt		unc-5 homolog D (C. elegans)		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	166.0	139.0	148.0		1298	5.1	1.0	8	dbSNP_134	148	24,8576	17.3+/-56.4	0,24,4276	yes	missense	UNC5D	NM_080872.2	29	0,26,6477	AA,AG,GG		0.2791,0.0454,0.1999	possibly-damaging	433/954	35579908	26,12980	2203	4300	6503	SO:0001583	missense	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35579908G>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1298G>A	8.37:g.35579908G>A	ENSP00000385143:p.Arg433His					UNC5D_ENST00000416672.1_Missense_Mutation_p.R438H|UNC5D_ENST00000420357.1_Missense_Mutation_p.R366H|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Missense_Mutation_p.R433H	p.R428H			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	9	1339	+			433					Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	c.1283G>A	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045855	0.75846	4.54E-4	0.002791	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000416672;ENST00000453357	T;T;T;T	0.57907	0.4;0.81;0.4;0.37	5.95	5.07	0.68467	.	0.045689	0.85682	D	0.000000	T	0.58119	0.2100	M	0.77486	2.375	0.80722	D	1	P;P;P	0.49559	0.877;0.925;0.877	B;B;B	0.43052	0.23;0.406;0.23	T	0.66654	-0.5869	10	0.72032	D	0.01	-12.6544	15.003	0.71489	0.069:0.0:0.931:0.0	.	438;428;433	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	H	433;366;438;428	ENSP00000385143:R433H;ENSP00000392739:R366H;ENSP00000412652:R438H;ENSP00000394303:R428H	ENSP00000385143:R433H	R	+	2	0	UNC5D	35699450	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.418000	0.73341	1.513000	0.48852	0.650000	0.86243	CGT		0.552	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			19	80	0	0	0	1	0	19	80				
TBPL2	387332	broad.mit.edu	37	14	55903530	55903530	+	Silent	SNP	G	G	A	rs369692725		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr14:55903530G>A	ENST00000247219.5	-	2	427	c.357C>T	c.(355-357)caC>caT	p.H119H		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTCAGTTTCGTGTTTGCTAA	0.438																																						ENST00000247219.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						c.(355-357)caC>caT		TATA box binding protein like 2		G		2,4404	4.2+/-10.8	0,2,2201	194.0	163.0	174.0		357	-3.1	0.0	14		174	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TBPL2	NM_199047.2		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		119/376	55903530	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	387332				multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding	g.chr14:55903530G>A	AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.357C>T	14.37:g.55903530G>A							p.H119H	NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN			2	427	-			119						Silent	SNP	ENST00000247219.5	37	c.357C>T	CCDS9724.1																																																																																				0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276916.1	NM_199047		9	44	0	0	0	1	0	9	44				
WDR48	57599	broad.mit.edu	37	3	39093536	39093536	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr3:39093536A>G	ENST00000302313.5	+	1	48	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.Q7R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	7					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATCACCGGCAGAACACAGCA	0.647																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(19-21)cAg>cGg		WD repeat domain 48							73.0	68.0	70.0					3																	39093536		2203	4300	6503	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39093536A>G	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.20A>G	3.37:g.39093536A>G	ENSP00000307491:p.Gln7Arg					WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.Q7R	p.Q7R	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	1	48	+			7					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.20A>G	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690203	0.48097	.	.	ENSG00000114742	ENST00000302313;ENST00000544962	T;D	0.88046	1.21;-2.33	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.81987	0.4939	L	0.40543	1.245	0.80722	D	1	B;B;B	0.31256	0.219;0.316;0.312	B;B;B	0.33254	0.145;0.16;0.031	T	0.80705	-0.1263	10	0.39692	T	0.17	0.0201	12.9192	0.58222	1.0:0.0:0.0:0.0	.	7;7;7	Q8TAF3-5;Q8TAF3-3;Q8TAF3	.;.;WDR48_HUMAN	R	7	ENSP00000307491:Q7R;ENSP00000445187:Q7R	ENSP00000307491:Q7R	Q	+	2	0	WDR48	39068540	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.176000	0.77643	1.782000	0.52362	0.533000	0.62120	CAG		0.647	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		6	17	0	0	0	1	0	6	17				
USP45	85015	broad.mit.edu	37	6	99936563	99936563	+	Silent	SNP	G	G	C			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:99936563G>C	ENST00000327681.6	-	6	1144	c.612C>G	c.(610-612)gtC>gtG	p.V204V	USP45_ENST00000472914.2_Silent_p.V204V|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000329966.6_Silent_p.V204V|USP45_ENST00000369233.2_Silent_p.V204V|USP45_ENST00000500704.2_Silent_p.V204V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	204	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTACCTGCATGACTGCATTAA	0.318																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(610-612)gtC>gtG		ubiquitin specific peptidase 45							80.0	81.0	81.0					6																	99936563		2202	4294	6496	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99936563G>C	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.612C>G	6.37:g.99936563G>C						USP45_ENST00000500704.2_Silent_p.V204V|USP45_ENST00000329966.5_Silent_p.V204V|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Silent_p.V204V|USP45_ENST00000472914.2_Silent_p.V204V	p.V204V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	6	1144	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	204					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.612C>G	CCDS34501.1																																																																																				0.318	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		4	138	0	0	0	1	0	4	138				
TNFRSF10D	8793	broad.mit.edu	37	8	23002139	23002139	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr8:23002139G>A	ENST00000312584.3	-	7	872	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	260					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GAACGCCGCCGGAAAAGGACC	0.602																																						ENST00000312584.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						c.(778-780)Cgg>Tgg		tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain							51.0	50.0	50.0					8																	23002139		2203	4300	6503	SO:0001583	missense	8793				anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity	g.chr8:23002139G>A	AF029761	CCDS6038.1	8p21	2006-02-22			ENSG00000173530	ENSG00000173530		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11907	protein-coding gene	gene with protein product		603614				9382840, 9537512	Standard	NM_003840		Approved	DcR2, TRUNDD, TRAILR4, CD264	uc003xcz.2	Q9UBN6	OTTHUMG00000097845	ENST00000312584.3:c.778C>T	8.37:g.23002139G>A	ENSP00000310263:p.Arg260Trp						p.R260W	NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)	7	872	-		Prostate(55;0.0421)|Breast(100;0.067)	260					B2R8W0|Q9Y6Q4	Missense_Mutation	SNP	ENST00000312584.3	37	c.778C>T	CCDS6038.1	.	.	.	.	.	.	.	.	.	.	G	9.645	1.140050	0.21205	.	.	ENSG00000173530	ENST00000312584	D	0.82433	-1.61	1.87	-2.53	0.06326	.	2.353560	0.02301	U	0.071212	T	0.63165	0.2488	N	0.05078	-0.115	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.51411	-0.8709	10	0.42905	T	0.14	.	1.8841	0.03235	0.3911:0.0:0.2082:0.4006	.	260	Q9UBN6	TR10D_HUMAN	W	260	ENSP00000310263:R260W	ENSP00000310263:R260W	R	-	1	2	TNFRSF10D	23058084	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.821000	0.00749	-0.360000	0.08138	-0.672000	0.03802	CGG		0.602	TNFRSF10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215135.1			3	42	0	0	0	1	0	3	42				
RNF10	9921	broad.mit.edu	37	12	120990388	120990388	+	Silent	SNP	T	T	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr12:120990388T>G	ENST00000325954.4	+	3	902	c.441T>G	c.(439-441)acT>acG	p.T147T	RNF10_ENST00000413266.2_Silent_p.T147T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	147	Interaction with MEOX2.				negative regulation of Schwann cell proliferation (GO:0010626)|positive regulation of myelination (GO:0031643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autoubiquitination (GO:0051865)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAATTTCACTTTTGAACCCC	0.498																																						ENST00000325954.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27						c.(439-441)acT>acG		ring finger protein 10							92.0	86.0	88.0					12																	120990388		2203	4300	6503	SO:0001819	synonymous_variant	9921				negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:120990388T>G	AB027196	CCDS9201.1	12q23-q24	2013-01-09			ENSG00000022840	ENSG00000022840		"""RING-type (C3HC4) zinc fingers"""	10055	protein-coding gene	gene with protein product							Standard	NM_014868		Approved	KIAA0262, RIE2	uc001typ.4	Q8N5U6	OTTHUMG00000168999	ENST00000325954.4:c.441T>G	12.37:g.120990388T>G						RNF10_ENST00000413266.2_Silent_p.T147T	p.T147T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN			3	902	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		147			Interaction with MEOX2.		Q92550|Q9NPP8|Q9ULW4	Silent	SNP	ENST00000325954.4	37	c.441T>G	CCDS9201.1																																																																																				0.498	RNF10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401898.4			5	52	0	0	0	1	0	5	52				
ETS2	2114	broad.mit.edu	37	21	40190389	40190389	+	Silent	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr21:40190389G>A	ENST00000360214.3	+	8	1090	c.630G>A	c.(628-630)caG>caA	p.Q210Q	ETS2_ENST00000360938.3_Silent_p.Q210Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 2	210					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TGCAGACACAGAATTACCCCA	0.552																																						ENST00000360214.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18						c.(628-630)caG>caA		v-ets avian erythroblastosis virus E26 oncogene homolog 2							121.0	130.0	127.0					21																	40190389		2203	4300	6503	SO:0001819	synonymous_variant	2114				positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr21:40190389G>A		CCDS13659.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157557	ENSG00000157557			3489	protein-coding gene	gene with protein product		164740	"""v-ets erythroblastosis virus E26 oncogene homolog 2 (avian)"""			17986575	Standard	NM_001256295		Approved		uc002yxf.3	P15036	OTTHUMG00000090769	ENST00000360214.3:c.630G>A	21.37:g.40190389G>A						ETS2_ENST00000360938.3_Silent_p.Q210Q	p.Q210Q	NM_001256295.1	NP_001243224.1	P15036	ETS2_HUMAN			8	1090	+		Prostate(19;6.33e-08)|all_epithelial(19;0.123)	210					A6NM68|D3DSH6|Q53Y89	Silent	SNP	ENST00000360214.3	37	c.630G>A	CCDS13659.1																																																																																				0.552	ETS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207544.1			5	132	0	0	0	1	0	5	132				
NCOR1	9611	broad.mit.edu	37	17	15989710	15989710	+	Silent	SNP	G	G	A	rs546064182		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr17:15989710G>A	ENST00000268712.3	-	23	3320	c.3063C>T	c.(3061-3063)ggC>ggT	p.G1021G	NCOR1_ENST00000395851.1_Silent_p.G1037G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1021	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAAGCCGAACGCCTTCAGGGA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0					ENST00000268712.3																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(3061-3063)ggC>ggT		nuclear receptor corepressor 1							93.0	93.0	93.0					17																	15989710		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15989710G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3063C>T	17.37:g.15989710G>A						NCOR1_ENST00000395851.1_Silent_p.G1037G	p.G1021G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	23	3320	-			1021			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3063C>T	CCDS11175.1																																																																																				0.448	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		21	40	0	0	0	1	0	21	40				
SF3B1	23451	broad.mit.edu	37	2	198267491	198267491	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr2:198267491C>G	ENST00000335508.6	-	14	1957	c.1866G>C	c.(1864-1866)gaG>gaC	p.E622D	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	622					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.E622D(16)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TACGGACATACTCATCCATGT	0.423			Mis		myelodysplastic syndrome																																	ENST00000335508.5				Dom	yes		2	2q33.1	23451	Mis	"""splicing factor 3b, subunit 1, 155kDa"""			L			myelodysplastic syndrome		16	Substitution - Missense(16)	p.E622D(16)	haematopoietic_and_lymphoid_tissue(12)|NS(4)	NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633						c.(1864-1866)gaG>gaC		splicing factor 3b, subunit 1, 155kDa							92.0	88.0	90.0					2																	198267491		2203	4300	6503	SO:0001583	missense	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198267491C>G	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1866G>C	2.37:g.198267491C>G	ENSP00000335321:p.Glu622Asp						p.E622D	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		14	1957	-			622					E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	c.1866G>C	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.876884	0.72180	.	.	ENSG00000115524	ENST00000335508	T	0.66280	-0.2	5.69	-4.71	0.03279	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.65811	0.2727	M	0.76328	2.33	0.80722	D	1	P	0.46395	0.877	P	0.49301	0.606	T	0.71998	-0.4423	10	0.56958	D	0.05	.	15.7844	0.78291	0.0:0.3726:0.0:0.6274	.	622	O75533	SF3B1_HUMAN	D	622	ENSP00000335321:E622D	ENSP00000335321:E622D	E	-	3	2	SF3B1	197975736	0.718000	0.27976	0.927000	0.36925	0.994000	0.84299	-0.086000	0.11233	-0.879000	0.04002	-0.471000	0.05019	GAG		0.423	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			6	49	0	0	0	1	0	6	49				
ZNF322	79692	broad.mit.edu	37	6	26637700	26637700	+	Missense_Mutation	SNP	T	T	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:26637700T>A	ENST00000415922.2	-	4	1727	c.1082A>T	c.(1081-1083)cAc>cTc	p.H361L	RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000461899.1_5'Flank|ZNF322_ENST00000471278.1_Missense_Mutation_p.H361L	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TGAACTCTGGTGGAAGCTTTT	0.428																																						ENST00000415922.2																			0											c.(1081-1083)cAc>cTc		zinc finger protein 322							250.0	192.0	212.0					6																	26637700		2202	4298	6500	SO:0001583	missense	79692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr6:26637700T>A	AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.1082A>T	6.37:g.26637700T>A	ENSP00000418897:p.His361Leu					ZNF322_ENST00000471278.1_Missense_Mutation_p.H361L	p.H361L	NM_024639.4	NP_078915.2	Q6U7Q0	Z322A_HUMAN			4	1727	-			361					A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Missense_Mutation	SNP	ENST00000415922.2	37	c.1082A>T	CCDS4617.1	.	.	.	.	.	.	.	.	.	.	t	7.937	0.741938	0.15642	.	.	ENSG00000181315	ENST00000415922;ENST00000471278	T;T	0.14022	2.54;2.54	4.9	2.36	0.29203	.	0.139267	0.33235	N	0.005129	T	0.01421	0.0046	N	0.03967	-0.31	0.09310	N	1	B	0.14805	0.011	B	0.14578	0.011	T	0.41840	-0.9486	10	0.52906	T	0.07	-9.2604	1.6502	0.02770	0.1675:0.0949:0.1742:0.5633	.	361	Q6U7Q0	ZN322_HUMAN	L	361	ENSP00000418897:H361L;ENSP00000419728:H361L	ENSP00000418897:H361L	H	-	2	0	ZNF322	26745679	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	-2.236000	0.01201	1.000000	0.39049	0.533000	0.62120	CAC		0.428	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2	NM_024639		8	373	0	0	0	1	0	8	373				
MYCT1	80177	broad.mit.edu	37	6	153043043	153043043	+	Missense_Mutation	SNP	C	C	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:153043043C>A	ENST00000367245.5	+	2	371	c.363C>A	c.(361-363)aaC>aaA	p.N121K	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	121						nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ACGGCCTCAACAGAACTGGAT	0.517																																						ENST00000367245.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20						c.(361-363)aaC>aaA		myc target 1							121.0	115.0	117.0					6																	153043043		2203	4300	6503	SO:0001583	missense	80177					nucleus		g.chr6:153043043C>A	AF527367	CCDS5239.1	6q25.1	2008-02-05			ENSG00000120279	ENSG00000120279			23172	protein-coding gene	gene with protein product						12477932	Standard	NM_025107		Approved	MTLC, FLJ21269	uc003qpc.4	Q8N699	OTTHUMG00000015850	ENST00000367245.5:c.363C>A	6.37:g.153043043C>A	ENSP00000356214:p.Asn121Lys					MYCT1_ENST00000529453.1_Intron	p.N121K	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)	2	371	+		Ovarian(120;0.0654)	121					Q8N396|Q8TBE8|Q9H763	Missense_Mutation	SNP	ENST00000367245.5	37	c.363C>A	CCDS5239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.34|17.34	3.365162|3.365162	0.61513|0.61513	.|.	.|.	ENSG00000120279|ENSG00000120279	ENST00000367245|ENST00000532295	T|.	0.32515|.	1.45|.	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	0.611268|.	0.18963|.	N|.	0.126332|.	T|T	0.56455|0.56455	0.1986|0.1986	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	B|.	0.31548|.	0.328|.	B|.	0.27380|.	0.079|.	T|T	0.55108|0.55108	-0.8192|-0.8192	10|5	0.25751|.	T|.	0.34|.	-7.4053|-7.4053	13.2405|13.2405	0.59994|0.59994	0.0:0.9275:0.0:0.0724|0.0:0.9275:0.0:0.0724	.|.	121|.	Q8N699|.	MYCT1_HUMAN|.	K|K	121|102	ENSP00000356214:N121K|.	ENSP00000356214:N121K|.	N|T	+|+	3|2	2|0	MYCT1|MYCT1	153084736|153084736	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.956000|2.956000	0.49129|0.49129	2.727000|2.727000	0.93392|0.93392	0.579000|0.579000	0.79373|0.79373	AAC|ACA		0.517	MYCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042750.2	NM_025107		4	72	1	0	0.014758	1	0.014758	4	72				
SNHG14	104472715	broad.mit.edu	37	15	25468443	25468443	+	RNA	SNP	A	A	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr15:25468443A>G	ENST00000424208.1	+	0	6332				SNORD115-30_ENST00000364117.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA|SNORD115-28_ENST00000363931.1_RNA|SNORD115-29_ENST00000362834.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		GATGACTTAAAAATCATGCTC	0.502																																						ENST00000453082.2																			0																				371.0	398.0	389.0					15																	25468443		876	1989	2865			0							g.chr15:25468443A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25468443A>G						SNORD115-29_ENST00000362834.1_RNA		NR_003343.1						0	885	+									RNA	SNP	ENST00000424208.1	37																																																																																						0.502	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			22	413	0	0	0	1	0	22	413				
ALS2CL	259173	broad.mit.edu	37	3	46723007	46723007	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr3:46723007A>C	ENST00000318962.4	-	12	1340	c.1257T>G	c.(1255-1257)tgT>tgG	p.C419W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.C419W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	419					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCCGTAGCCACACATGCTGC	0.602																																						ENST00000318962.4																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29						c.(1255-1257)tgT>tgG		ALS2 C-terminal like							133.0	121.0	125.0					3																	46723007		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46723007A>C	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.1257T>G	3.37:g.46723007A>C	ENSP00000313670:p.Cys419Trp					ALS2CL_ENST00000415953.1_Missense_Mutation_p.C419W	p.C419W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	12	1340	-			419					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.1257T>G	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	A	11.05	1.523970	0.27299	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.42513	0.97;0.97	3.94	-6.84	0.01687	.	1.760210	0.02688	N	0.110304	T	0.35158	0.0922	L	0.35487	1.065	0.80722	D	1	D	0.53885	0.963	P	0.50754	0.649	T	0.55075	-0.8197	10	0.56958	D	0.05	.	2.8127	0.05446	0.2024:0.2738:0.3999:0.1239	.	419	Q60I27	AL2CL_HUMAN	W	419	ENSP00000313670:C419W;ENSP00000413223:C419W	ENSP00000313670:C419W	C	-	3	2	ALS2CL	46698011	0.000000	0.05858	0.772000	0.31596	0.179000	0.23085	-1.972000	0.01502	-0.986000	0.03498	-0.563000	0.04171	TGT		0.602	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		8	52	0	0	0	1	0	8	52				
B3GALT4	8705	broad.mit.edu	37	6	33245516	33245516	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:33245516C>G	ENST00000451237.1	+	1	600	c.320C>G	c.(319-321)aCg>aGg	p.T107R		NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4	107					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ganglioside galactosyltransferase activity (GO:0047915)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						AGGGTACAGACGCTATTCTTG	0.657																																						ENST00000451237.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	13						c.(319-321)aCg>aGg		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4							63.0	78.0	73.0					6																	33245516		2203	4300	6503	SO:0001583	missense	8705				protein glycosylation	Golgi membrane|integral to membrane	ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr6:33245516C>G	Y15061	CCDS34425.1	6p21.3	2013-02-19			ENSG00000235863	ENSG00000235863		"""Beta 3-glycosyltransferases"""	919	protein-coding gene	gene with protein product		603095				9582303	Standard	NM_003782		Approved	beta3Gal-T4, GalT4	uc003odr.3	O96024	OTTHUMG00000031100	ENST00000451237.1:c.320C>G	6.37:g.33245516C>G	ENSP00000390784:p.Thr107Arg						p.T107R	NM_003782.3	NP_003773.1	O96024	B3GT4_HUMAN			1	600	+			107						Missense_Mutation	SNP	ENST00000451237.1	37	c.320C>G	CCDS34425.1	.	.	.	.	.	.	.	.	.	.	C	16.00	2.999675	0.54147	.	.	ENSG00000235863	ENST00000451237	T	0.43688	0.94	4.54	3.67	0.42095	.	0.000000	0.85682	D	0.000000	T	0.21227	0.0511	L	0.31752	0.955	0.43399	D	0.995526	P	0.43607	0.812	P	0.47251	0.542	T	0.02196	-1.1197	10	0.24483	T	0.36	.	10.4706	0.44635	0.0:0.9046:0.0:0.0954	.	107	O96024	B3GT4_HUMAN	R	107	ENSP00000390784:T107R	ENSP00000390784:T107R	T	+	2	0	B3GALT4	33353494	0.873000	0.30073	0.992000	0.48379	0.544000	0.35116	1.717000	0.37991	1.132000	0.42129	0.549000	0.68633	ACG		0.657	B3GALT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076162.2			12	92	0	0	0	1	0	12	92				
ACO1	48	broad.mit.edu	37	9	32408558	32408558	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr9:32408558A>G	ENST00000309951.6	+	4	451	c.313A>G	c.(313-315)Aaa>Gaa	p.K105E	ACO1_ENST00000379923.1_Missense_Mutation_p.K105E|ACO1_ENST00000541043.1_Missense_Mutation_p.K6E	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	105					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGATGCTGTGAAAAAGTTAGG	0.428																																						ENST00000379923.1																			0				breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30						c.(313-315)Aaa>Gaa		aconitase 1, soluble							171.0	161.0	164.0					9																	32408558		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32408558A>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.313A>G	9.37:g.32408558A>G	ENSP00000309477:p.Lys105Glu					ACO1_ENST00000309951.5_Missense_Mutation_p.K105E|ACO1_ENST00000541043.1_Missense_Mutation_p.K6E	p.K105E	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	5	519	+			105					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.313A>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.465832	0.26335	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.44482	0.92;0.92;2.27	5.75	4.59	0.56863	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.083437	0.85682	N	0.000000	T	0.34948	0.0915	L	0.46614	1.455	0.48395	D	0.999647	B	0.02656	0.0	B	0.04013	0.001	T	0.08911	-1.0699	10	0.28530	T	0.3	-4.7312	11.0522	0.47896	0.9252:0.0:0.0748:0.0	.	105	P21399	ACOC_HUMAN	E	141;105;105;105;6	ENSP00000309477:K105E;ENSP00000369255:K105E;ENSP00000438733:K6E	ENSP00000309477:K105E	K	+	1	0	ACO1	32398558	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.228000	0.72288	0.964000	0.38108	0.533000	0.62120	AAA		0.428	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		12	102	0	0	0	1	0	12	102				
BMS1	9790	broad.mit.edu	37	10	43315737	43315737	+	Missense_Mutation	SNP	G	G	T			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr10:43315737G>T	ENST00000374518.5	+	16	2697	c.2634G>T	c.(2632-2634)gaG>gaT	p.E878D		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	878					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTCAGTATGAGGGTTTTCGAC	0.433																																						ENST00000374518.4																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2632-2634)gaG>gaT		BMS1 ribosome biogenesis factor							120.0	118.0	118.0					10																	43315737		2203	4300	6503	SO:0001583	missense	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43315737G>T	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2634G>T	10.37:g.43315737G>T	ENSP00000363642:p.Glu878Asp						p.E878D	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			16	2697	+			878					Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	c.2634G>T	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115516	0.77323	.	.	ENSG00000165733	ENST00000374518	T	0.17854	2.25	5.05	-4.55	0.03441	Ribosome biogenesis protein BMS1/TSR1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.38506	0.1043	M	0.92122	3.275	0.47778	D	0.999516	D	0.53462	0.96	P	0.58077	0.832	T	0.53995	-0.8359	10	0.39692	T	0.17	.	13.1374	0.59417	0.6341:0.0:0.3659:0.0	.	878	Q14692	BMS1_HUMAN	D	878	ENSP00000363642:E878D	ENSP00000363642:E878D	E	+	3	2	BMS1	42635743	0.998000	0.40836	0.969000	0.41365	0.964000	0.63967	0.474000	0.22148	-0.725000	0.04901	-0.396000	0.06452	GAG		0.433	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		6	99	1	0	3.59834e-05	1	3.81e-05	6	99				
NLRP10	338322	broad.mit.edu	37	11	7982638	7982638	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr11:7982638G>A	ENST00000328600.2	-	2	682	c.521C>T	c.(520-522)tCg>tTg	p.S174L		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	174	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTGCCAGCCGACCCCTGTAG	0.547																																						ENST00000328600.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(520-522)tCg>tTg		NLR family, pyrin domain containing 10							53.0	54.0	54.0					11																	7982638		2201	4296	6497	SO:0001583	missense	338322						ATP binding	g.chr11:7982638G>A	AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.521C>T	11.37:g.7982638G>A	ENSP00000327763:p.Ser174Leu						p.S174L	NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN		Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	682	-			174			NACHT.		Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	c.521C>T	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686998	0.29962	.	.	ENSG00000182261	ENST00000328600	T	0.80304	-1.36	5.25	-0.519	0.11939	NACHT nucleoside triphosphatase (1);	1.130040	0.06837	N	0.794968	T	0.67878	0.2940	N	0.24115	0.695	0.09310	N	1	P	0.42039	0.769	B	0.43386	0.418	T	0.57825	-0.7744	10	0.36615	T	0.2	.	3.1186	0.06383	0.0879:0.1455:0.3204:0.4462	.	174	Q86W26	NAL10_HUMAN	L	174	ENSP00000327763:S174L	ENSP00000327763:S174L	S	-	2	0	NLRP10	7939214	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.126000	0.15769	0.017000	0.15025	0.655000	0.94253	TCG		0.547	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1	NM_176821		4	41	0	0	0	1	0	4	41				
CDH10	1008	broad.mit.edu	37	5	24509761	24509761	+	Silent	SNP	C	C	G			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr5:24509761C>G	ENST00000264463.4	-	7	1677	c.1170G>C	c.(1168-1170)ctG>ctC	p.L390L		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L390L(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GAACTTCAAACAGATAGGAGG	0.398										HNSCC(23;0.051)																												ENST00000264463.4																			1	Substitution - coding silent(1)	p.L390L(1)	lung(1)	NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(1168-1170)ctG>ctC		cadherin 10, type 2 (T2-cadherin)							103.0	103.0	103.0					5																	24509761		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24509761C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1170G>C	5.37:g.24509761C>G		HNSCC(23;0.051)					p.L390L	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	7	1677	-			390			Cadherin 4.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1170G>C	CCDS3892.1																																																																																				0.398	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		13	51	0	0	0	1	0	13	51				
MCM10	55388	broad.mit.edu	37	10	13213058	13213058	+	Silent	SNP	C	C	T			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr10:13213058C>T	ENST00000484800.2	+	3	247	c.144C>T	c.(142-144)gcC>gcT	p.A48A	MCM10_ENST00000378714.3_Silent_p.A48A|MCM10_ENST00000378694.1_Silent_p.A48A			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	48	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TCTTTGATGCCGACGGCGACG	0.458																																						ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(142-144)gcC>gcT		minichromosome maintenance complex component 10							141.0	145.0	143.0					10																	13213058		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213058C>T	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.144C>T	10.37:g.13213058C>T						MCM10_ENST00000484800.2_Silent_p.A48A|MCM10_ENST00000378714.3_Silent_p.A48A	p.A48A			Q7L590	MCM10_HUMAN			2	219	+			48					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.144C>T	CCDS7096.1																																																																																				0.458	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		19	98	0	0	0	1	0	19	98				
CANT1	124583	broad.mit.edu	37	17	76993228	76993228	+	Silent	SNP	C	C	T	rs149367726		TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr17:76993228C>T	ENST00000302345.2	-	2	971	c.477G>A	c.(475-477)gcG>gcA	p.A159A	CANT1_ENST00000392446.5_Silent_p.A159A|CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Silent_p.A159A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	159					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCCCTTCTCCGCCAGGTGGG	0.567			T	ETV4	prostate																																	ENST00000302345.2				Dom	yes		17	17q25	124583	T	calcium activated nucleotidase 1			E	ETV4		prostate	CANT1/ETV4(3)	0				cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16						c.(475-477)gcG>gcA		calcium activated nucleotidase 1		C	,,	1,4405	2.1+/-5.4	0,1,2202	120.0	121.0	121.0		477,477,477	-10.5	0.2	17	dbSNP_134	121	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CANT1	NM_001159772.1,NM_001159773.1,NM_138793.3	,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,	159/402,159/402,159/402	76993228	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	124583				positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity	g.chr17:76993228C>T	AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.477G>A	17.37:g.76993228C>T						CANT1_ENST00000392446.5_Silent_p.A159A|CANT1_ENST00000591773.1_Silent_p.A159A	p.A159A	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		2	971	-			159					B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Silent	SNP	ENST00000302345.2	37	c.477G>A	CCDS11760.1																																																																																				0.567	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437723.2	NM_138793		14	155	0	0	0	1	0	14	155				
RXRB	6257	broad.mit.edu	37	6	33159977	33159979	+	IGR	DEL	AGG	AGG	-			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr6:33159977_33159979delAGG	ENST00000374680.3	-	0	2908				COL11A2_ENST00000395194.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374714.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000341947.2_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374708.4_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374713.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000374712.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000357486.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000395197.1_In_Frame_Del_p.13_14LL>L|COL11A2_ENST00000361917.1_In_Frame_Del_p.13_14LL>L	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACCAGAGGTAGGAGGAGGAGGA	0.675																																						ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(37-42)cta>ct		collagen, type XI, alpha 2			,,,	11,3241		1,9,1616					,,,	-5.0	0.1			8	29,6129		0,29,3050	no	coding,coding,coding,coding	COL11A2	NM_080681.2,NM_080680.2,NM_080679.2,NM_001163771.1	,,,	1,38,4666	A1A1,A1R,RR		0.4709,0.3383,0.4251	,,,	,,,		40,9370				SO:0001628	intergenic_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33159977_33159979delAGG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159986_33159988delAGG						COL11A2_ENST00000395194.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000395197.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000357486.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374712.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374708.4_In_Frame_Del_p.LL13del|COL11A2_ENST00000374713.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000361917.1_In_Frame_Del_p.LL13del|COL11A2_ENST00000374714.1_In_Frame_Del_p.LL13del	p.LL13del	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			1	266_268	-			13					P28703|Q59G65|Q5JP92|Q5STQ1	In_Frame_Del	DEL	ENST00000374680.3	37	c.39_41delCCT	CCDS4768.1																																																																																				0.675	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		2	4						2	4	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151836813	151836813	+	Frame_Shift_Del	DEL	T	T	-			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr7:151836813delT	ENST00000262189.6	-	56	14625	c.14407delA	c.(14407-14409)actfs	p.T4803fs	KMT2C_ENST00000485655.2_Frame_Shift_Del_p.T8fs|KMT2C_ENST00000355193.2_Frame_Shift_Del_p.T4860fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4803	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CGAATGATAGTCCCGATGTAC	0.448																																						ENST00000355193.2																			0											c.(14578-14580)ctfs		lysine (K)-specific methyltransferase 2C							286.0	218.0	241.0					7																	151836813		2203	4300	6503	SO:0001589	frameshift_variant	58508							g.chr7:151836813delT	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.14407delA	7.37:g.151836813delT	ENSP00000262189:p.Thr4803fs					KMT2C_ENST00000485655.2_Frame_Shift_Del_p.T8fs|KMT2C_ENST00000262189.6_Frame_Shift_Del_p.T4803fs	p.T4860fs							57	14796	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	ENST00000262189.6	37	c.14578delA	CCDS5931.1																																																																																				0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			9	95						9	95	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000534257.1_5'Flank|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		7	43						7	43	---	---	---	---
DENND4A	10260	broad.mit.edu	37	15	66030066	66030066	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr15:66030066delG	ENST00000431932.2	-	7	1227	c.1019delC	c.(1018-1020)cctfs	p.P340fs	DENND4A_ENST00000443035.3_Frame_Shift_Del_p.P340fs	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	340	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AAGGACATGAGGCCCAGAGAT	0.378																																						ENST00000443035.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(1018-1020)ctfs		DENN/MADD domain containing 4A							67.0	61.0	63.0					15																	66030066		1869	4105	5974	SO:0001589	frameshift_variant	10260				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr15:66030066delG	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1019delC	15.37:g.66030066delG	ENSP00000396830:p.Pro340fs					DENND4A_ENST00000431932.2_Frame_Shift_Del_p.P340fs	p.P340fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN			7	1234	-			340			DENN.		E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Frame_Shift_Del	DEL	ENST00000431932.2	37	c.1019delC	CCDS45285.1																																																																																				0.378	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848		2	4						2	4	---	---	---	---
PTPRS	5802	broad.mit.edu	37	19	5223271	5223271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J4-A83L-01A-11D-A34U-08	TCGA-J4-A83L-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe51bd58-bb0e-41cd-aeee-4bf7aa9579a2	fab25240-6b31-4570-b1dc-8e37d42997d0	g.chr19:5223271delG	ENST00000587303.1	-	17	2631	c.2532delC	c.(2530-2532)cccfs	p.P844fs	PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P840fs|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000372412.4_Frame_Shift_Del_p.P845fs|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P844fs|PTPRS_ENST00000592099.1_Intron			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	844	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	GGCTGCCCTCGGGGGTCTGCT	0.726																																						ENST00000372412.4																			0				NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61						c.(2533-2535)ccfs		protein tyrosine phosphatase, receptor type, S							5.0	6.0	6.0					19																	5223271		2115	4123	6238	SO:0001589	frameshift_variant	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5223271delG	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.2532delC	19.37:g.5223271delG	ENSP00000467537:p.Pro844fs					PTPRS_ENST00000262963.6_Frame_Shift_Del_p.P840fs|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000587303.1_Frame_Shift_Del_p.P844fs|PTPRS_ENST00000348075.2_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000588012.1_Frame_Shift_Del_p.P822fs|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000357368.4_Frame_Shift_Del_p.P844fs	p.P845fs			Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	18	2768	-			844			Fibronectin type-III 6.		O75255|O75870|Q15718|Q16341|Q2M3R7	Frame_Shift_Del	DEL	ENST00000587303.1	37	c.2535delC	CCDS45930.1																																																																																				0.726	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			2	4						2	4	---	---	---	---
