#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
C14orf39	317761	broad.mit.edu	37	14	60908817	60908817	+	Silent	SNP	A	A	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr14:60908817A>G	ENST00000321731.3	-	17	1695	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	512					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGACAGAGGATTTAGATTTC	0.274																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1534-1536)aaT>aaC		chromosome 14 open reading frame 39							79.0	85.0	83.0					14																	60908817		2202	4285	6487	SO:0001819	synonymous_variant	317761							g.chr14:60908817A>G	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1536T>C	14.37:g.60908817A>G							p.N512N	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	17	1695	-			512					Q08AQ4	Silent	SNP	ENST00000321731.3	37	c.1536T>C	CCDS9746.1																																																																																				0.274	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		34	43	0	0	0	1	0	34	43				
CD19	930	broad.mit.edu	37	16	28943382	28943382	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:28943382G>A	ENST00000324662.3	+	1	105	c.61G>A	c.(61-63)Gag>Aag	p.E21K	CD19_ENST00000567541.1_Missense_Mutation_p.E21K|CD19_ENST00000538922.1_Missense_Mutation_p.E21K			P15391	CD19_HUMAN	CD19 molecule	21	Ig-like C2-type 1.				B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGTCAGGCCCGAGGAACCTCT	0.597																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(61-63)Gag>Aag		CD19 molecule							121.0	110.0	114.0					16																	28943382		2197	4300	6497	SO:0001583	missense	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943382G>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.61G>A	16.37:g.28943382G>A	ENSP00000313419:p.Glu21Lys					CD19_ENST00000567541.1_Missense_Mutation_p.E21K|CD19_ENST00000324662.3_Missense_Mutation_p.E21K	p.E21K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			1	123	+			21			Ig-like C2-type 1.		A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	37	c.61G>A	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641484	0.47153	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662	T;T	0.36157	1.27;1.27	5.24	2.15	0.27550	Immunoglobulin-like (1);	0.629837	0.14059	N	0.344163	T	0.23926	0.0579	N	0.14661	0.345	0.19575	N	0.999965	B;B	0.19935	0.033;0.04	B;B	0.17098	0.01;0.017	T	0.20672	-1.0268	10	0.59425	D	0.04	-4.9244	13.3325	0.60497	0.0:0.5292:0.4708:0.0	.	21;21	F5H635;P15391	.;CD19_HUMAN	K	21;6;21	ENSP00000437940:E21K;ENSP00000313419:E21K	ENSP00000313419:E21K	E	+	1	0	CD19	28850883	0.005000	0.15991	0.720000	0.30636	0.012000	0.07955	0.807000	0.27140	0.205000	0.20568	-1.182000	0.01712	GAG		0.597	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			36	33	0	0	0	1	0	36	33				
GPR124	25960	broad.mit.edu	37	8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	rs576854487		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACACCTCCCGCCCTGGAGCT	0.682													G|||	1	0.000199681	0.0	0.0	5008	,	,		12725	0.0		0.001	False		,,,				2504	0.0					ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1984-1986)cGc>cAc		G protein-coupled receptor 124							48.0	54.0	52.0					8																	37693223		2201	4299	6500	SO:0001583	missense	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693223G>A	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1985G>A	8.37:g.37693223G>A	ENSP00000406367:p.Arg662His					GPR124_ENST00000315215.7_Intron	p.R662H	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1998	+			662					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	ENST00000412232.2	37	c.1985G>A	CCDS6097.2	.	.	.	.	.	.	.	.	.	.	G	6.429	0.447309	0.12223	.	.	ENSG00000020181	ENST00000416514;ENST00000412232	T	0.58358	0.34	5.29	5.29	0.74685	.	0.126543	0.50627	D	0.000105	T	0.34745	0.0908	L	0.28274	0.84	0.45035	D	0.998054	B	0.27450	0.179	B	0.15052	0.012	T	0.16424	-1.0403	10	0.23891	T	0.37	-32.2337	9.6335	0.39793	0.1552:0.0:0.8448:0.0	.	662	Q96PE1	GP124_HUMAN	H	655;662	ENSP00000406367:R662H	ENSP00000406367:R662H	R	+	2	0	GPR124	37812381	0.699000	0.27786	0.981000	0.43875	0.044000	0.14063	1.904000	0.39868	2.497000	0.84241	0.655000	0.94253	CGC		0.682	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			25	44	0	0	0	1	0	25	44				
HECW1	23072	broad.mit.edu	37	7	43477672	43477672	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:43477672G>A	ENST00000395891.2	+	9	1477	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R291H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	291	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCAAGAGCCGCCCCATCATC	0.473																																						ENST00000395891.1																			0				NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(871-873)cGc>cAc		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							100.0	106.0	104.0					7																	43477672		2046	4233	6279	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43477672G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.872G>A	7.37:g.43477672G>A	ENSP00000379228:p.Arg291His					HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Missense_Mutation_p.R291H	p.R291H	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN			9	1477	+			291			C2.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.872G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.954632	0.97139	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.46451	0.87;0.87	6.17	6.17	0.99709	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.67995	-0.5526	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	291;323;291	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	H	291;291;290	ENSP00000379228:R291H;ENSP00000407774:R291H	ENSP00000265522:R290H	R	+	2	0	HECW1	43444197	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGC		0.473	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		33	72	0	0	0	1	0	33	72				
LSM14A	26065	broad.mit.edu	37	19	34685400	34685400	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685400G>A	ENST00000433627.5	+	2	214	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E47K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	47					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGGTACAGAAGACAGACC	0.408																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(139-141)Gaa>Aaa		LSM14A, SCD6 homolog A (S. cerevisiae)							189.0	161.0	171.0					19																	34685400		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685400G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.139G>A	19.37:g.34685400G>A	ENSP00000413964:p.Glu47Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E47K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K	p.E47K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	216	+	Esophageal squamous(110;0.162)		47					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.139G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	36	5.689559	0.96784	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.74002	-0.52;-0.8;-0.6	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	D	0.90896	0.7139	H	0.95504	3.68	0.80722	D	1	D;D;D	0.89917	1.0;0.979;1.0	D;D;D	0.97110	1.0;0.982;0.999	D	0.93106	0.6512	10	0.87932	D	0	-22.9178	19.5786	0.95455	0.0:0.0:1.0:0.0	.	47;47;47	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	47	ENSP00000446271:E47K;ENSP00000413964:E47K;ENSP00000446451:E47K	ENSP00000314768:E47K	E	+	1	0	LSM14A	39377240	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAA		0.408	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		88	119	0	0	0	1	0	88	119				
FAM126B	285172	broad.mit.edu	37	2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	rs138872845		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	382						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493																																						ENST00000418596.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						c.(1144-1146)cGt>cAt		family with sequence similarity 126, member B		C	HIS/ARG	0,4406		0,0,2203	102.0	100.0	101.0		1145	5.8	1.0	2	dbSNP_134	101	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM126B	NM_173822.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	382/531	201846441	1,13005	2203	4300	6503	SO:0001583	missense	285172					intracellular		g.chr2:201846441C>T	BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1145G>A	2.37:g.201846441C>T	ENSP00000393667:p.Arg382His					AC005037.3_ENST00000413848.1_RNA	p.R382H	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN			12	1332	-			382					B2RCG7|Q4ZG87|Q53TX6	Missense_Mutation	SNP	ENST00000418596.3	37	c.1145G>A	CCDS2335.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927537	0.52759	0.0	1.16E-4	ENSG00000155744	ENST00000418596	T	0.80393	-1.37	5.76	5.76	0.90799	.	0.052330	0.85682	D	0.000000	D	0.85969	0.5821	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.84551	0.0644	10	0.40728	T	0.16	-9.4248	19.9664	0.97271	0.0:1.0:0.0:0.0	.	188;382	B3KUG1;Q8IXS8	.;F126B_HUMAN	H	382	ENSP00000393667:R382H	ENSP00000393667:R382H	R	-	2	0	FAM126B	201554686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.411000	0.59781	2.718000	0.92993	0.655000	0.94253	CGT		0.493	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822		22	31	0	0	0	1	0	22	31				
SLC25A4	291	broad.mit.edu	37	4	186066341	186066341	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:186066341G>A	ENST00000281456.6	+	2	667	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	179					adenine transport (GO:0015853)|apoptotic mitochondrial changes (GO:0008637)|energy reserve metabolic process (GO:0006112)|generation of precursor metabolites and energy (GO:0006091)|mitochondrial genome maintenance (GO:0000002)|negative regulation of necroptotic process (GO:0060546)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGGTTTCAACGTCTCTGTCCA	0.562																																						ENST00000281456.5																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						c.(535-537)Gtc>Atc		solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4	Adenosine triphosphate(DB00171)|Clodronate(DB00720)						49.0	51.0	50.0					4																	186066341		2203	4300	6503	SO:0001583	missense	291				energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding	g.chr4:186066341G>A	BC008664	CCDS34114.1	4q35	2014-09-17			ENSG00000151729	ENSG00000151729		"""Solute carriers"""	10990	protein-coding gene	gene with protein product		103220		PEO3, PEO2, ANT1		1582253	Standard	NM_001151		Approved	T1	uc003ixd.3	P12235	OTTHUMG00000134299	ENST00000281456.6:c.535G>A	4.37:g.186066341G>A	ENSP00000281456:p.Val179Ile					SLC25A4_ENST00000515584.1_3'UTR	p.V179I	NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	2	667	+		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	179					D3DP59	Missense_Mutation	SNP	ENST00000281456.6	37	c.535G>A	CCDS34114.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.952825	0.73787	.	.	ENSG00000151729	ENST00000281456	T	0.79247	-1.25	5.61	5.61	0.85477	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	T	0.73814	0.3635	L	0.47016	1.485	0.80722	D	1	B	0.30021	0.265	B	0.26693	0.072	T	0.70171	-0.4945	10	0.41790	T	0.15	0.662	19.8947	0.96949	0.0:0.0:1.0:0.0	.	179	P12235	ADT1_HUMAN	I	179	ENSP00000281456:V179I	ENSP00000281456:V179I	V	+	1	0	SLC25A4	186303335	1.000000	0.71417	0.946000	0.38457	0.898000	0.52572	9.653000	0.98506	2.937000	0.99478	0.650000	0.86243	GTC		0.562	SLC25A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259170.3	NM_001151		12	15	0	0	0	1	0	12	15				
NDOR1	27158	broad.mit.edu	37	9	140110110	140110110	+	Splice_Site	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:140110110G>A	ENST00000344894.5	+	11	1371		c.e11-1		NDOR1_ENST00000427047.2_Splice_Site|NDOR1_ENST00000371521.4_Splice_Site|NDOR1_ENST00000458322.2_Splice_Site	NM_001144028.1|NM_014434.2	NP_001137500.1|NP_055249.1			NADPH dependent diflavin oxidoreductase 1											breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCTGCAATAGGACCTGTCCG	0.607																																						ENST00000371521.4																			0				breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15						c.e11-1		NADPH dependent diflavin oxidoreductase 1							55.0	59.0	57.0					9																	140110110		2202	4300	6502	SO:0001630	splice_region_variant	27158				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding	g.chr9:140110110G>A	BC015735	CCDS7036.1, CCDS48061.1, CCDS48062.1, CCDS48063.1	9q34.3	2008-02-05			ENSG00000188566	ENSG00000188566			29838	protein-coding gene	gene with protein product	"""NADPH dependent FMN and FAD containing oxidoreductase"""	606073				10625700, 12631275	Standard	XM_005266066		Approved	NR1, bA350O14.9	uc004clx.3	Q9UHB4	OTTHUMG00000020986	ENST00000344894.5:c.1289-1G>A	9.37:g.140110110G>A						NDOR1_ENST00000458322.2_Splice_Site|NDOR1_ENST00000344894.5_Splice_Site|NDOR1_ENST00000427047.2_Splice_Site		NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)	11	1371	+	all_cancers(76;0.0926)								Splice_Site	SNP	ENST00000344894.5	37		CCDS7036.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815112	0.16607	.	.	ENSG00000188566	ENST00000458322;ENST00000427047;ENST00000371521;ENST00000344894	.	.	.	4.68	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.6526	0.28356	0.1907:0.0:0.8093:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NDOR1	139229931	0.998000	0.40836	0.497000	0.27552	0.039000	0.13416	3.651000	0.54431	2.153000	0.67306	0.561000	0.74099	.		0.607	NDOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254704.1	NM_014434	Intron	20	15	0	0	0	1	0	20	15				
ATG4D	84971	broad.mit.edu	37	19	10659651	10659651	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:10659651C>T	ENST00000309469.4	+	6	1080	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ATG4D_ENST00000540862.1_Intron|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	303					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGGTCATCCTGGTGCCCGT	0.632																																						ENST00000309469.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19						c.(907-909)Ctg>Ttg		autophagy related 4D, cysteine peptidase							117.0	88.0	98.0					19																	10659651		2203	4300	6503	SO:0001819	synonymous_variant	84971				autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity	g.chr19:10659651C>T	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.907C>T	19.37:g.10659651C>T						ATG4D_ENST00000540862.1_Intron	p.L303L	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		6	1080	+			303					Q969K0	Silent	SNP	ENST00000309469.4	37	c.907C>T	CCDS12241.1																																																																																				0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		25	23	0	0	0	1	0	25	23				
BMS1	9790	broad.mit.edu	37	10	43292066	43292066	+	Silent	SNP	C	C	T	rs372823965		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:43292066C>T	ENST00000374518.5	+	10	1437	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	458					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						GGTTGGAAAACGGCTCTAGTG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		23971	0.0		0.0	False		,,,				2504	0.001					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.(1372-1374)aaC>aaT		BMS1 ribosome biogenesis factor		C		1,4405	2.1+/-5.4	0,1,2202	226.0	207.0	213.0		1374	-1.4	0.2	10		213	0,8600		0,0,4300	no	coding-synonymous	BMS1	NM_014753.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		458/1283	43292066	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43292066C>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.1374C>T	10.37:g.43292066C>T							p.N458N	NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN			10	1437	+			458					Q5QPT5|Q86XJ9	Silent	SNP	ENST00000374518.5	37	c.1374C>T	CCDS7199.1																																																																																				0.443	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753		16	8	0	0	0	1	0	16	8				
LSM14A	26065	broad.mit.edu	37	19	34685448	34685448	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685448G>A	ENST00000433627.5	+	2	262	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E63K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	63					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGAAGTCTTTGAATACATTAT	0.433																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(187-189)Gaa>Aaa		LSM14A, SCD6 homolog A (S. cerevisiae)							219.0	187.0	198.0					19																	34685448		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685448G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.187G>A	19.37:g.34685448G>A	ENSP00000413964:p.Glu63Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E63K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K	p.E63K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	264	+	Esophageal squamous(110;0.162)		63					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.187G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	37	6.103602	0.97286	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.42900	0.98;0.96;1.1	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.74092	0.3671	M	0.92219	3.285	0.80722	D	1	D;D;D	0.89917	1.0;0.99;1.0	D;P;D	0.79784	0.992;0.814;0.993	T	0.80350	-0.1419	10	0.72032	D	0.01	-15.4157	19.5786	0.95455	0.0:0.0:1.0:0.0	.	63;63;63	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	63	ENSP00000446271:E63K;ENSP00000413964:E63K;ENSP00000446451:E63K	ENSP00000314768:E63K	E	+	1	0	LSM14A	39377288	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAA		0.433	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		76	124	0	0	0	1	0	76	124				
SRRM3	222183	broad.mit.edu	37	7	75894112	75894112	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:75894112A>T	ENST00000326382.8	+	9	911	c.704A>T	c.(703-705)gAg>gTg	p.E235V	SRRM3_ENST00000388802.4_Missense_Mutation_p.E235V	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	235	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AAAAGAAAAGAGAAGAACAAA	0.567																																						ENST00000388802.4																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						c.(703-705)gAg>gTg		serine/arginine repetitive matrix 3							114.0	115.0	115.0					7																	75894112		1568	3582	5150	SO:0001583	missense	222183							g.chr7:75894112A>T	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.704A>T	7.37:g.75894112A>T	ENSP00000325298:p.Glu235Val					SRRM3_ENST00000326382.8_Missense_Mutation_p.E235V	p.E235V							9	913	+								A6ND75	Missense_Mutation	SNP	ENST00000326382.8	37	c.704A>T		.	.	.	.	.	.	.	.	.	.	A	15.91	2.973212	0.53614	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02606	4.23	4.23	4.23	0.50019	.	0.272855	0.25783	N	0.028327	T	0.10078	0.0247	L	0.55481	1.735	0.38050	D	0.935734	D	0.71674	0.998	D	0.76071	0.987	T	0.10823	-1.0613	10	0.40728	T	0.16	-15.5224	11.1075	0.48212	1.0:0.0:0.0:0.0	.	235	A6NNA2	SRRM3_HUMAN	V	235	ENSP00000373454:E235V	ENSP00000325298:E235V	E	+	2	0	SRRM3	75732048	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	4.517000	0.60503	1.914000	0.55421	0.454000	0.30748	GAG		0.567	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		13	21	0	0	0	1	0	13	21				
TTN	7273	broad.mit.edu	37	2	179485844	179485844	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:179485844G>A	ENST00000591111.1	-	196	40902	c.40678C>T	c.(40678-40680)Cac>Tac	p.H13560Y	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.H15201Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13560	Ig-like 91.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTCAAGTGAGCTGCTGCT	0.383																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(45601-45603)Cac>Tac		titin							88.0	84.0	85.0					2																	179485844		1930	4130	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485844G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40678C>T	2.37:g.179485844G>A	ENSP00000465570:p.His13560Tyr					TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H13560Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.H15201Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	45825	-			13560			Fibronectin type-III 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.45601C>T		.	.	.	.	.	.	.	.	.	.	G	12.04	1.818662	0.32145	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28896	0.0717	N	0.11023	0.085	0.31778	N	0.631287	B;B;B;B	0.12630	0.001;0.001;0.006;0.006	B;B;B;B	0.15052	0.008;0.008;0.012;0.008	T	0.30268	-0.9984	9	0.87932	D	0	.	15.3037	0.73976	0.0:0.1394:0.8606:0.0	.	6136;6261;6328;13560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	12633;6136;6328;6261;6136	ENSP00000343764:H12633Y;ENSP00000434586:H6136Y;ENSP00000340554:H6328Y;ENSP00000352154:H6261Y	ENSP00000340554:H6328Y	H	-	1	0	TTN	179194089	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.872000	0.69636	2.669000	0.90835	0.655000	0.94253	CAC		0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	16	0	0	0	1	0	18	16				
AHR	196	broad.mit.edu	37	7	17379426	17379426	+	Silent	SNP	C	C	T	rs139422560	byFrequency	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:17379426C>T	ENST00000242057.4	+	10	2620	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	659					apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|cell cycle (GO:0007049)|circadian regulation of gene expression (GO:0032922)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|regulation of B cell proliferation (GO:0030888)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|response to xenobiotic stimulus (GO:0009410)|transcription from RNA polymerase II promoter (GO:0006366)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosolic aryl hydrocarbon receptor complex (GO:0034752)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|Hsp90 protein binding (GO:0051879)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)				Atorvastatin(DB01076)|Flutamide(DB00499)|Ginseng(DB01404)|Leflunomide(DB01097)|Mexiletine(DB00379)|Nimodipine(DB00393)	CTAACCAATTCGTGCCTTTCA	0.408																																						ENST00000242057.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33						c.(1975-1977)ttC>ttT		aryl hydrocarbon receptor		C		2,4404	4.2+/-10.8	0,2,2201	149.0	127.0	134.0		1977	-12.3	0.0	7	dbSNP_134	134	0,8600		0,0,4300	no	coding-synonymous	AHR	NM_001621.4		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		659/849	17379426	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	196				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr7:17379426C>T	L19872	CCDS5366.1	7p15	2013-05-21			ENSG00000106546	ENSG00000106546		"""Basic helix-loop-helix proteins"""	348	protein-coding gene	gene with protein product		600253				8125016	Standard	NM_001621		Approved	bHLHe76	uc011jxz.1	P35869	OTTHUMG00000149967	ENST00000242057.4:c.1977C>T	7.37:g.17379426C>T							p.F659F	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN			10	2620	+	Lung NSC(10;0.0392)|all_lung(11;0.0754)		659					A4D130|Q13728|Q13803|Q13804	Silent	SNP	ENST00000242057.4	37	c.1977C>T	CCDS5366.1																																																																																				0.408	AHR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314620.2	NM_001621		45	102	0	0	0	1	0	45	102				
MPDZ	8777	broad.mit.edu	37	9	13108990	13108990	+	Missense_Mutation	SNP	C	C	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:13108990C>A	ENST00000319217.7	-	46	6258	c.6011G>T	c.(6010-6012)gGa>gTa	p.G2004V	MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V|MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2004	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCCATATCCTCCAACTAT	0.413																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(6010-6012)gGa>gTa		multiple PDZ domain protein							41.0	41.0	41.0					9																	13108990		1876	4104	5980	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13108990C>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6011G>T	9.37:g.13108990C>A	ENSP00000320006:p.Gly2004Val					MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V	p.G2004V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	46	6258	-			2004			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6011G>T		.	.	.	.	.	.	.	.	.	.	C	25.6	4.654175	0.88056	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.44	5.44	0.79542	PDZ/DHR/GLGF (4);	0.000000	0.44688	D	0.000430	T	0.80144	0.4569	H	0.96365	3.81	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0	D	0.86034	0.1515	10	0.72032	D	0.01	.	19.6391	0.95749	0.0:1.0:0.0:0.0	.	1942;863;709;1971;1884;1975;2004;697	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	V	2004;1975;1975;545;238;940;863;1942;1971;2004;1884;2018	ENSP00000320006:G2004V;ENSP00000439807:G1975V;ENSP00000370410:G1975V;ENSP00000415964:G545V;ENSP00000445259:G238V;ENSP00000444230:G940V;ENSP00000444717:G863V;ENSP00000444151:G1942V;ENSP00000415208:G1971V;ENSP00000370403:G2004V;ENSP00000446358:G2018V	ENSP00000320006:G2004V	G	-	2	0	MPDZ	13098990	1.000000	0.71417	0.985000	0.45067	0.991000	0.79684	7.776000	0.85560	2.715000	0.92844	0.655000	0.94253	GGA		0.413	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		7	6	1	0	8.12818e-05	1	8.12818e-05	7	6				
TBCE	6905	broad.mit.edu	37	1	235543460	235543460	+	Silent	SNP	G	G	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:235543460G>C	ENST00000366601.3	+	2	272	c.96G>C	c.(94-96)gtG>gtC	p.V32V	TBCE_ENST00000406207.1_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000543662.1_Silent_p.V32V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	32	CAP-Gly. {ECO:0000255|PROSITE- ProRule:PRU00045}.				'de novo' posttranslational protein folding (GO:0051084)|adult locomotory behavior (GO:0008344)|cellular protein metabolic process (GO:0044267)|developmental growth (GO:0048589)|microtubule cytoskeleton organization (GO:0000226)|muscle atrophy (GO:0014889)|peripheral nervous system neuron axonogenesis (GO:0048936)|post-chaperonin tubulin folding pathway (GO:0007023)|post-embryonic development (GO:0009791)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	chaperone binding (GO:0051087)			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCCCTCCCGTGGCAGGTAAGC	0.443																																						ENST00000543662.1																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14						c.(94-96)gtG>gtC		tubulin folding cofactor E							147.0	121.0	130.0					1																	235543460		2203	4300	6503	SO:0001819	synonymous_variant	6905				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding	g.chr1:235543460G>C	U61232	CCDS1605.1, CCDS73052.1	1q42.3	2014-02-04	2006-11-21		ENSG00000116957	ENSG00000116957			11582	protein-coding gene	gene with protein product		604934	"""tubulin-specific chaperone e"", ""Kenny-Caffey syndrome"", ""hypoparathyroidism, growth and mental retardation, and dysmorphism"""	KCS, HRD		8706133, 9806825, 12389028	Standard	NM_001079515		Approved	KCS1, pac2	uc001hxa.1	Q15813	OTTHUMG00000039987	ENST00000366601.3:c.96G>C	1.37:g.235543460G>C						TBCE_ENST00000366601.3_Silent_p.V32V|TBCE_ENST00000406207.1_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR	p.V32V			Q15813	TBCE_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)		2	202	+	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	32			CAP-Gly.		A8K8C2|B7Z3P1	Silent	SNP	ENST00000366601.3	37	c.96G>C	CCDS1605.1																																																																																				0.443	TBCE-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096458.3	NM_003193		17	28	0	0	0	1	0	17	28				
HN1	51155	broad.mit.edu	37	17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000470924.1_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000476258.1_5'UTR|Y_RNA_ENST00000516233.1_RNA|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|RP11-649A18.4_ENST00000579554.1_RNA|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22					developmental process (GO:0032502)	nucleus (GO:0005634)			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393																																						ENST00000409753.3																		HN1/USH1G(2)	0				breast(1)	1						c.(64-66)Cgg>Tgg		hematological and neurological expressed 1							65.0	59.0	61.0					17																	73144759		2203	4300	6503	SO:0001583	missense	51155					nucleus		g.chr17:73144759G>A	AF086910	CCDS32729.1, CCDS45771.1, CCDS45772.1	17q25.1	2013-09-20			ENSG00000189159	ENSG00000189159			14569	protein-coding gene	gene with protein product	"""androgen-regulated protein 2"""					15094197	Standard	NM_001002032		Approved	ARM2, HN1A	uc002jnb.1	Q9UK76	OTTHUMG00000154521	ENST00000409753.3:c.64C>T	17.37:g.73144759G>A	ENSP00000387059:p.Arg22Trp					HN1_ENST00000482348.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR	p.R22W	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN			2	349	-	all_lung(278;0.14)|Lung NSC(278;0.168)		22					B2R6K3|Q53FG7|Q7Z2D2|Q7Z2F0	Missense_Mutation	SNP	ENST00000409753.3	37	c.64C>T	CCDS45771.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.702560	0.30232	.	.	ENSG00000189159	ENST00000409753;ENST00000356033;ENST00000409135	.	.	.	4.55	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.75221	0.3820	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	P;D;D	0.68483	0.736;0.958;0.941	T	0.77720	-0.2482	9	0.87932	D	0	-27.1706	9.6699	0.40006	0.0:0.1517:0.6916:0.1568	.	22;22;22	B8ZZT7;Q9UK76-2;Q9UK76	.;.;HN1_HUMAN	W	22	.	ENSP00000348316:R22W	R	-	1	2	HN1	70656354	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.275000	0.51639	2.364000	0.80123	0.563000	0.77884	CGG		0.393	HN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335692.1	NM_001002032		3	51	0	0	0	1	0	3	51				
STAT1	6772	broad.mit.edu	37	2	191865866	191865866	+	Silent	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:191865866G>A	ENST00000361099.3	-	6	783	c.396C>T	c.(394-396)agC>agT	p.S132S	STAT1_ENST00000392322.3_Silent_p.S132S|STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	132					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			ACATCACTGTGCTCTGAATAT	0.413																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(394-396)agC>agT		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						232.0	195.0	208.0					2																	191865866		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191865866G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.396C>T	2.37:g.191865866G>A						STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392322.3_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S	p.S132S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		6	783	-			132					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.396C>T	CCDS2309.1																																																																																				0.413	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		25	34	0	0	0	1	0	25	34				
HAO1	54363	broad.mit.edu	37	20	7915166	7915166	+	Missense_Mutation	SNP	A	A	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:7915166A>T	ENST00000378789.3	-	2	305	c.254T>A	c.(253-255)aTg>aAg	p.M85K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	85	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGAGCCATGCGCTGCAT	0.532																																						ENST00000378789.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(253-255)aTg>aAg		hydroxyacid oxidase (glycolate oxidase) 1							106.0	96.0	100.0					20																	7915166		2203	4300	6503	SO:0001583	missense	54363				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	g.chr20:7915166A>T	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.254T>A	20.37:g.7915166A>T	ENSP00000368066:p.Met85Lys						p.M85K	NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN			2	305	-			85			FMN hydroxy acid dehydrogenase.		Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	ENST00000378789.3	37	c.254T>A	CCDS13100.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789527	0.90367	.	.	ENSG00000101323	ENST00000378789	T	0.31247	1.5	5.96	5.96	0.96718	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.033188	0.85682	D	0.000000	T	0.63768	0.2539	H	0.94847	3.59	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.57371	0.819;0.819	T	0.74006	-0.3803	10	0.87932	D	0	-6.9363	15.4206	0.75009	1.0:0.0:0.0:0.0	.	85;85	A8K058;Q9UJM8	.;HAOX1_HUMAN	K	85	ENSP00000368066:M85K	ENSP00000368066:M85K	M	-	2	0	HAO1	7863166	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.843000	0.86859	2.280000	0.76307	0.533000	0.62120	ATG		0.532	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077926.2			23	26	0	0	0	1	0	23	26				
UNCX	340260	broad.mit.edu	37	7	1275471	1275471	+	Missense_Mutation	SNP	T	T	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:1275471T>C	ENST00000316333.8	+	3	565	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	152					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCTAGGTCTGGTTCCAAAA	0.697																																						ENST00000316333.8																			0				lung(2)|skin(1)|upper_aerodigestive_tract(1)	4						c.(454-456)Tgg>Cgg		UNC homeobox							12.0	17.0	15.0					7																	1275471		2179	4284	6463	SO:0001583	missense	340260				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:1275471T>C		CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.454T>C	7.37:g.1275471T>C	ENSP00000314480:p.Trp152Arg						p.W152R	NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	3	565	+		Ovarian(82;0.11)	152					A4D221	Missense_Mutation	SNP	ENST00000316333.8	37	c.454T>C	CCDS34583.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432839	0.43224	.	.	ENSG00000164853	ENST00000316333	D	0.99822	-6.94	4.27	4.27	0.50696	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.56097	U	0.000026	D	0.99910	0.9957	H	0.99867	4.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96114	0.9079	10	0.87932	D	0	-16.7764	12.4027	0.55422	0.0:0.0:0.0:1.0	.	152	A6NJT0	UNC4_HUMAN	R	152	ENSP00000314480:W152R	ENSP00000314480:W152R	W	+	1	0	UNCX	1241997	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.359000	0.66074	1.818000	0.53035	0.329000	0.21502	TGG		0.697	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324910.2	NM_001080461		8	14	0	0	0	1	0	8	14				
OBSCN	84033	broad.mit.edu	37	1	228564858	228564858	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:228564858C>T	ENST00000422127.1	+	101	23189	c.23145C>T	c.(23143-23145)cgC>cgT	p.R7715R	OBSCN_ENST00000570156.2_Silent_p.R8672R|OBSCN_ENST00000366707.4_Silent_p.R5349R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7715	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGTGCTGCGCGAATACGAGG	0.677																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(26014-26016)cgC>cgT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							14.0	18.0	17.0					1																	228564858		2046	4189	6235	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228564858C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.23145C>T	1.37:g.228564858C>T						OBSCN_ENST00000366707.4_Silent_p.R5349R|OBSCN_ENST00000422127.1_Silent_p.R7715R	p.R8672R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			112	26090	+		Prostate(94;0.0405)	7715					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.26016C>T	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311886	0.23821	.	.	ENSG00000154358	ENST00000441106	.	.	.	4.82	-9.64	0.00541	.	0.891167	0.09393	N	0.808263	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6403	0.02751	0.2521:0.3435:0.1962:0.2083	.	.	.	.	X	2332	.	ENSP00000388554:R2332X	R	+	1	2	OBSCN	226631481	0.000000	0.05858	0.000000	0.03702	0.287000	0.27160	-0.988000	0.03739	-4.183000	0.00067	-0.752000	0.03492	CGA		0.677	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		6	10	0	0	0	1	0	6	10				
IGKV2D-29	28882	broad.mit.edu	37	2	89986862	89986862	+	RNA	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:89986862G>A	ENST00000491977.1	+	0	173									immunoglobulin kappa variable 2D-29																		TCTAGTCAGAGCCTCCTGCAT	0.522																																						ENST00000491977.1																			0																				27.0	33.0	31.0					2																	89986862		1800	4070	5870			0							g.chr2:89986862G>A	M31952		2p11.2	2012-02-08			ENSG00000243264	ENSG00000243264		"""Immunoglobulins / IGK locus"""	5800	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151619		2.37:g.89986862G>A														0	173	+									RNA	SNP	ENST00000491977.1	37																																																																																						0.522	IGKV2D-29-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323291.1	NG_000833		28	34	0	0	0	1	0	28	34				
MAPK11	5600	broad.mit.edu	37	22	50705842	50705842	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr22:50705842C>T	ENST00000330651.6	-	4	475	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	ATTGAACGTGCTCGTCGCTCA	0.701																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(373-375)gaG>gaA		mitogen-activated protein kinase 11							24.0	30.0	28.0					22																	50705842		2190	4291	6481	SO:0001819	synonymous_variant	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705842C>T	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.375G>A	22.37:g.50705842C>T						MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	p.E125E	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	4	475	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	125			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Silent	SNP	ENST00000330651.6	37	c.375G>A	CCDS14090.1																																																																																				0.701	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			10	2	0	0	0	1	0	10	2				
NLRP2	55655	broad.mit.edu	37	19	55494752	55494752	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:55494752C>T	ENST00000543010.1	+	6	1829	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000448584.2_Silent_p.N562N|NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000263437.6_Silent_p.N559N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	562					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542																																						ENST00000543010.1																			0				large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11						c.(1684-1686)aaC>aaT		NLR family, pyrin domain containing 2							76.0	70.0	72.0					19																	55494752		2203	4300	6503	SO:0001819	synonymous_variant	55655				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	g.chr19:55494752C>T	AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1686C>T	19.37:g.55494752C>T						NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000339757.7_Silent_p.N540N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000448584.2_Silent_p.N562N	p.N562N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)	6	1829	+			562					B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	c.1686C>T	CCDS12913.1																																																																																				0.542	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852		20	49	0	0	0	1	0	20	49				
ETAA1	54465	broad.mit.edu	37	2	67631743	67631743	+	Silent	SNP	C	C	T	rs201848293		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:67631743C>T	ENST00000272342.5	+	5	2059	c.1929C>T	c.(1927-1929)tcC>tcT	p.S643S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	643						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATAATAATTCCGAACATGGAG	0.358													C|||	1	0.000199681	0.0	0.0	5008	,	,		22623	0.0		0.001	False		,,,				2504	0.0					ENST00000272342.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						c.(1927-1929)tcC>tcT		Ewing tumor-associated antigen 1							111.0	115.0	114.0					2																	67631743		2202	4300	6502	SO:0001819	synonymous_variant	54465					cytoplasm|nucleus		g.chr2:67631743C>T	AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1929C>T	2.37:g.67631743C>T						ETAA1_ENST00000462772.1_Intron	p.S643S	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN			5	2059	+			643					Q05BT7|Q53SC4	Silent	SNP	ENST00000272342.5	37	c.1929C>T	CCDS1882.1																																																																																				0.358	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251735.1	NM_019002		68	99	0	0	0	1	0	68	99				
SERPINB13	5275	broad.mit.edu	37	18	61264400	61264400	+	Missense_Mutation	SNP	G	G	A	rs185543305		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr18:61264400G>A	ENST00000344731.5	+	8	1081	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	327					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGGGTTGTACGCCCAGAAGTT	0.592																																						ENST00000344731.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						c.(979-981)Gcc>Acc		serpin peptidase inhibitor, clade B (ovalbumin), member 13							77.0	71.0	73.0					18																	61264400		2203	4300	6503	SO:0001583	missense	5275				regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	g.chr18:61264400G>A	AF169949, BC101821	CCDS11985.1	18q21.33	2014-02-18	2005-08-18		ENSG00000197641	ENSG00000197641		"""Serine (or cysteine) peptidase inhibitors"""	8944	protein-coding gene	gene with protein product		604445	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13"""	PI13		9297979, 10512713, 24172014	Standard	NM_012397		Approved	HUR7, hurpin, headpin	uc002ljc.3	Q9UIV8	OTTHUMG00000060406	ENST00000344731.5:c.979G>A	18.37:g.61264400G>A	ENSP00000341584:p.Ala327Thr					SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	p.A327T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN			8	1081	+			327					A8K2Q8|Q3MII2|Q9HCX1|Q9UBW1|Q9UKG0	Missense_Mutation	SNP	ENST00000344731.5	37	c.979G>A	CCDS11985.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236423	0.39498	.	.	ENSG00000197641	ENST00000269489;ENST00000539341;ENST00000344731	D;D	0.84370	-1.84;-1.84	5.3	2.37	0.29283	Serpin domain (3);	0.959608	0.08622	N	0.918336	T	0.75428	0.3848	L	0.45352	1.415	0.09310	N	1	B;B;P	0.37573	0.178;0.032;0.6	B;B;B	0.25291	0.059;0.008;0.056	T	0.63056	-0.6722	10	0.59425	D	0.04	.	5.7344	0.18059	0.235:0.2581:0.5069:0.0	.	336;245;327	B7ZKV6;F5GZ40;Q9UIV8	.;.;SPB13_HUMAN	T	275;245;327	ENSP00000269489:A275T;ENSP00000341584:A327T	ENSP00000269489:A275T	A	+	1	0	SERPINB13	59415380	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.963000	0.03837	0.188000	0.20168	0.557000	0.71058	GCC		0.592	SERPINB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133798.1	NM_012397		23	30	0	0	0	1	0	23	30				
SLC27A2	11001	broad.mit.edu	37	15	50497454	50497454	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr15:50497454G>A	ENST00000267842.5	+	4	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	289					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|fatty acid beta-oxidation (GO:0006635)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)|very long-chain fatty acid catabolic process (GO:0042760)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of peroxisomal membrane (GO:0005779)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|phytanate-CoA ligase activity (GO:0050197)|pristanate-CoA ligase activity (GO:0070251)|receptor binding (GO:0005102)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTGCCTTGCGGACTAAATTT	0.398																																						ENST00000267842.5																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(865-867)cGg>cAg		solute carrier family 27 (fatty acid transporter), member 2							132.0	119.0	124.0					15																	50497454		2196	4295	6491	SO:0001583	missense	11001				bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	g.chr15:50497454G>A	D88308	CCDS10133.1, CCDS53943.1	15q21.2	2013-05-22			ENSG00000140284	ENSG00000140284		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10996	protein-coding gene	gene with protein product		603247		FACVL1		9730624	Standard	NM_003645		Approved	FATP2, hFACVL1, VLACS, VLCS, HsT17226, ACSVL1	uc001zxw.3	O14975	OTTHUMG00000131643	ENST00000267842.5:c.866G>A	15.37:g.50497454G>A	ENSP00000267842:p.Arg289Gln					SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	p.R289Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)	4	1098	+		all_lung(180;0.00177)	289					A8K2J7|Q53FY6|Q6PF09	Missense_Mutation	SNP	ENST00000267842.5	37	c.866G>A	CCDS10133.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.934027	0.73442	.	.	ENSG00000140284	ENST00000380902;ENST00000267842;ENST00000544960	T;T;T	0.49432	0.78;1.0;1.0	5.13	5.13	0.70059	AMP-dependent synthetase/ligase (1);	0.108315	0.64402	D	0.000016	T	0.72550	0.3474	H	0.96080	3.765	0.43555	D	0.995866	P;D	0.56287	0.948;0.975	P;P	0.53266	0.631;0.722	T	0.81464	-0.0921	10	0.54805	T	0.06	.	16.13	0.81422	0.0:0.0:1.0:0.0	.	236;289	Q6PF09;O14975	.;S27A2_HUMAN	Q	236;289;54	ENSP00000370289:R236Q;ENSP00000267842:R289Q;ENSP00000444549:R54Q	ENSP00000267842:R289Q	R	+	2	0	SLC27A2	48284746	0.220000	0.23631	0.175000	0.22980	0.879000	0.50718	1.669000	0.37492	2.678000	0.91216	0.563000	0.77884	CGG		0.398	SLC27A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254539.2	NM_003645		44	66	0	0	0	1	0	44	66				
PCDHA3	56145	broad.mit.edu	37	5	140182557	140182557	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr5:140182557C>T	ENST00000522353.2	+	1	1775	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTAGCGAAGGTGCGC	0.682																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1774-1776)gCg>gTg									99.0	96.0	97.0					5																	140182557		2203	4300	6503	SO:0001583	missense	0							g.chr5:140182557C>T	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1775C>T	5.37:g.140182557C>T	ENSP00000429808:p.Ala592Val					PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	p.A592V	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1775	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.1775C>T	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	c	10.76	1.440612	0.25900	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.51574	0.7;0.7	4.18	3.29	0.37713	Cadherin (3);Cadherin-like (1);	0.483859	0.14751	U	0.300579	T	0.39809	0.1092	L	0.47016	1.485	0.22581	N	0.998966	P;B	0.37594	0.601;0.142	B;B	0.31290	0.121;0.127	T	0.22556	-1.0213	10	0.59425	D	0.04	.	13.4575	0.61208	0.0:0.7001:0.2999:0.0	.	592;592	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	V	592	ENSP00000429808:A592V;ENSP00000434086:A592V	ENSP00000429808:A592V	A	+	2	0	PCDHA3	140162741	0.003000	0.15002	0.993000	0.49108	0.212000	0.24457	1.876000	0.39588	0.853000	0.35312	0.313000	0.20887	GCG		0.682	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		42	42	0	0	0	1	0	42	42				
RGPD4	285190	broad.mit.edu	37	2	108455411	108455411	+	Silent	SNP	T	T	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:108455411T>C	ENST00000408999.3	+	4	473	c.396T>C	c.(394-396)taT>taC	p.Y132Y	RGPD4_ENST00000354986.4_Silent_p.Y132Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	132					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGCAATTTATAAACTAAAGG	0.318																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(394-396)taT>taC		RANBP2-like and GRIP domain containing 4							22.0	42.0	37.0					2																	108455411		223	780	1003	SO:0001819	synonymous_variant	285190				intracellular transport		binding	g.chr2:108455411T>C	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.396T>C	2.37:g.108455411T>C						RGPD4_ENST00000354986.4_Silent_p.Y132Y	p.Y132Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			4	473	+			132					B9A029	Silent	SNP	ENST00000408999.3	37	c.396T>C	CCDS46381.1																																																																																				0.318	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		69	67	0	0	0	1	0	69	67				
LSM14A	26065	broad.mit.edu	37	19	34685496	34685496	+	Missense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685496G>A	ENST00000433627.5	+	2	310	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K|LSM14A_ENST00000544216.3_Missense_Mutation_p.E79K	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	79					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TACTGTTTGTGAGCCACCAAA	0.438																																						ENST00000544216.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22						c.(235-237)Gag>Aag		LSM14A, SCD6 homolog A (S. cerevisiae)							219.0	186.0	197.0					19																	34685496		2203	4300	6503	SO:0001583	missense	26065				cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		g.chr19:34685496G>A	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.235G>A	19.37:g.34685496G>A	ENSP00000413964:p.Glu79Lys					LSM14A_ENST00000433627.5_Missense_Mutation_p.E79K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K	p.E79K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN			2	312	+	Esophageal squamous(110;0.162)		79					B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	ENST00000433627.5	37	c.235G>A	CCDS46040.1	.	.	.	.	.	.	.	.	.	.	G	37	5.986297	0.97173	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.36699	1.26;1.26;1.24	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	M	0.91249	3.19	0.80722	D	1	D;P;D	0.89917	1.0;0.951;0.999	D;P;D	0.76575	0.988;0.814;0.972	T	0.75153	-0.3418	10	0.54805	T	0.06	-3.5569	19.5786	0.95455	0.0:0.0:1.0:0.0	.	79;79;79	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	K	79	ENSP00000446271:E79K;ENSP00000413964:E79K;ENSP00000446451:E79K	ENSP00000314768:E79K	E	+	1	0	LSM14A	39377336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.798000	0.99111	2.711000	0.92665	0.655000	0.94253	GAG		0.438	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451576.3	NM_015578		82	108	0	0	0	1	0	82	108				
CDRT4	284040	broad.mit.edu	37	17	15341350	15341350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:15341350G>A	ENST00000312177.6	-	4	476	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	66										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GGTTTATTCTGCCTTGATGCC	0.483																																						ENST00000312177.6																			0				endometrium(3)|skin(1)	4						c.(196-198)Cag>Tag		CMT1A duplicated region transcript 4							180.0	154.0	163.0					17																	15341350		2203	4300	6503	SO:0001587	stop_gained	284040							g.chr17:15341350G>A	BC029542	CCDS73995.1	17p12	2011-09-28			ENSG00000239704	ENSG00000239704			14383	protein-coding gene	gene with protein product						11381029	Standard	NM_001204477		Approved	FLJ36674	uc002gop.2	Q8N9R6	OTTHUMG00000059070	ENST00000312177.6:c.196C>T	17.37:g.15341350G>A	ENSP00000310031:p.Gln66*					TVP23C_ENST00000519970.1_3'UTR|TVP23C-CDRT4_ENST00000522212.2_3'UTR|CDRT4_ENST00000519354.1_5'UTR	p.Q66*	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)	4	476	-			66					A8MSL9|Q8IZ19	Nonsense_Mutation	SNP	ENST00000312177.6	37	c.196C>T		.	.	.	.	.	.	.	.	.	.	G	15.61	2.883145	0.51908	.	.	ENSG00000239704	ENST00000520956;ENST00000312177	.	.	.	4.74	0.296	0.15757	.	1.465370	0.04577	N	0.394222	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.3175	2.7853	0.05372	0.3359:0.0:0.4602:0.2039	.	.	.	.	X	67;66	.	ENSP00000310031:Q66X	Q	-	1	0	CDRT4	15282075	0.001000	0.12720	0.001000	0.08648	0.007000	0.05969	0.507000	0.22675	0.235000	0.21160	-0.230000	0.12252	CAG		0.483	CDRT4-001	KNOWN	non_canonical_conserved|non_canonical_other|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000130383.7	NM_173622		39	38	0	0	0	1	0	39	38				
RAPSN	5913	broad.mit.edu	37	11	47469622	47469622	+	Silent	SNP	G	G	A			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr11:47469622G>A	ENST00000298854.2	-	2	486	c.273C>T	c.(271-273)cgC>cgT	p.R91R	RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R|RAPSN_ENST00000524487.1_Silent_p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	91					positive regulation of neuron apoptotic process (GO:0043525)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)	acetylcholine receptor binding (GO:0033130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCTCGTTGCTGCGTGCCAGGT	0.632																																						ENST00000298854.2																			0				endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						c.(271-273)cgC>cgT		receptor-associated protein of the synapse							91.0	71.0	78.0					11																	47469622		2201	4298	6499	SO:0001819	synonymous_variant	5913				synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding	g.chr11:47469622G>A		CCDS7936.1, CCDS7937.1	11p11.2	2009-04-28	2007-02-23		ENSG00000165917	ENSG00000165917		"""RING-type (C3HC4) zinc fingers"""	9863	protein-coding gene	gene with protein product	"""rapsyn"""	601592	"""receptor-associated protein of the synapse, 43kD"""			8812503	Standard	NM_005055		Approved	RNF205, CMS1D, CMS1E	uc001nfi.2	Q13702	OTTHUMG00000166891	ENST00000298854.2:c.273C>T	11.37:g.47469622G>A						RAPSN_ENST00000524487.1_Silent_p.R91R|RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R	p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN			2	486	-			91					Q8TDF3|Q9BTD9	Silent	SNP	ENST00000298854.2	37	c.273C>T	CCDS7936.1																																																																																				0.632	RAPSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391726.1			9	23	0	0	0	1	0	9	23				
ASB10	136371	broad.mit.edu	37	7	150883516	150883516	+	Missense_Mutation	SNP	G	G	A	rs151344605		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:150883516G>A	ENST00000420175.2	-	2	571	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C|ASB10_ENST00000422024.1_Missense_Mutation_p.R228C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183			R -> C (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGGGGCGTTTCCCATCC	0.642																																						ENST00000422024.1																			0				NS(1)|endometrium(2)|lung(7)|skin(2)	12						c.(682-684)Cgc>Tgc		ankyrin repeat and SOCS box containing 10																																				SO:0001583	missense	136371				intracellular signal transduction			g.chr7:150883516G>A	AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.547C>T	7.37:g.150883516G>A	ENSP00000391137:p.Arg183Cys					ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000420175.2_Missense_Mutation_p.R183C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C	p.R228C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	807	-			183					A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	c.682C>T	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620817	0.28889	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.96	3.12	0.35913	Ankyrin repeat-containing domain (4);	0.342530	0.29987	N	0.010689	T	0.41880	0.1178	N	0.17631	0.505	0.28707	N	0.903732	B;B;B	0.14805	0.003;0.011;0.001	B;B;B	0.12156	0.006;0.007;0.005	T	0.36986	-0.9725	10	0.87932	D	0	-6.1227	4.3594	0.11194	0.0775:0.1334:0.5221:0.267	.	168;183;228	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	183;168;228;228;183	ENSP00000275838:R183C;ENSP00000367098:R168C;ENSP00000401369:R228C;ENSP00000398247:R228C;ENSP00000391137:R183C	ENSP00000275838:R183C	R	-	1	0	ASB10	150514449	0.038000	0.19896	0.718000	0.30602	0.909000	0.53808	1.311000	0.33562	0.598000	0.29829	-0.282000	0.10007	CGC		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3	NM_080871		4	5	0	0	0	1	0	4	5				
HKDC1	80201	broad.mit.edu	37	10	70986987	70986987	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:70986987C>T	ENST00000354624.5	+	2	221	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	30	Hexokinase type-1 1.				carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)	cytosol (GO:0005829)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|mannokinase activity (GO:0019158)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTATCACATGCGGCTCTCCGA	0.612																																						ENST00000354624.5																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(88-90)Cgg>Tgg		hexokinase domain containing 1							120.0	106.0	111.0					10																	70986987		2203	4300	6503	SO:0001583	missense	80201				glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	g.chr10:70986987C>T		CCDS7288.1	10q22.1	2006-10-24			ENSG00000156510	ENSG00000156510			23302	protein-coding gene	gene with protein product						12477932	Standard	NM_025130		Approved	FLJ37767, FLJ22761	uc001jpf.4	Q2TB90	OTTHUMG00000018371	ENST00000354624.5:c.88C>T	10.37:g.70986987C>T	ENSP00000346643:p.Arg30Trp					RP11-227H15.4_ENST00000450995.1_RNA|HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W	p.R30W	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN			2	221	+			30					B5MDN9|Q2TB91|Q5VTC7|Q7Z373|Q8WU37|Q96EH2|Q9H5Y9	Missense_Mutation	SNP	ENST00000354624.5	37	c.88C>T	CCDS7288.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324597	0.81580	.	.	ENSG00000156510	ENST00000354624;ENST00000395087;ENST00000395086	D;D	0.98567	-5.0;-5.0	4.91	2.98	0.34508	Hexokinase, N-terminal (1);	0.051591	0.85682	D	0.000000	D	0.98611	0.9535	M	0.78049	2.395	0.53688	D	0.999972	D	0.89917	1.0	D	0.71656	0.974	D	0.98510	1.0618	10	0.51188	T	0.08	-19.6919	13.95	0.64111	0.2764:0.7236:0.0:0.0	.	30	Q2TB90	HKDC1_HUMAN	W	30	ENSP00000346643:R30W;ENSP00000378521:R30W	ENSP00000346643:R30W	R	+	1	2	HKDC1	70656993	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.807000	0.47955	0.716000	0.32124	0.655000	0.94253	CGG		0.612	HKDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048389.1	NM_025130		4	35	0	0	0	1	0	4	35				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		4	354	0	0	0	1	0	4	354				
EDC4	23644	broad.mit.edu	37	16	67913854	67913854	+	Silent	SNP	T	T	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:67913854T>C	ENST00000358933.5	+	16	2162	c.1923T>C	c.(1921-1923)gcT>gcC	p.A641A	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	641	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCACCTCAGCTGTGGACCCCT	0.612																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1921-1923)gcT>gcC		enhancer of mRNA decapping 4							47.0	43.0	44.0					16																	67913854		2198	4300	6498	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913854T>C	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1923T>C	16.37:g.67913854T>C							p.A641A	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2162	+		Ovarian(137;0.0563)	641			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1923T>C	CCDS10849.1																																																																																				0.612	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	9	0	0	0	1	0	6	9				
WWP2	11060	broad.mit.edu	37	16	69971126	69971126	+	Silent	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:69971126C>T	ENST00000359154.2	+	20	2324	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000356003.2_Silent_p.D741D|WWP2_ENST00000542271.1_Silent_p.D625D|WWP2_ENST00000568684.1_Silent_p.D302D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	741	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTACTTTGACGAGAAAGAGC	0.602																																						ENST00000359154.2																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(2221-2223)gaC>gaT		WW domain containing E3 ubiquitin protein ligase 2							67.0	64.0	65.0					16																	69971126		2198	4300	6498	SO:0001819	synonymous_variant	11060				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity	g.chr16:69971126C>T	BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.2223C>T	16.37:g.69971126C>T						WWP2_ENST00000568684.1_Silent_p.D302D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000542271.1_Silent_p.D625D|WWP2_ENST00000356003.2_Silent_p.D741D	p.D741D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN			20	2324	+			741			HECT.		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Silent	SNP	ENST00000359154.2	37	c.2223C>T	CCDS10885.1																																																																																				0.602	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268954.1	NM_007014		13	12	0	0	0	1	0	13	12				
TNFSF14	8740	broad.mit.edu	37	19	6664992	6664992	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:6664992C>T	ENST00000599359.1	-	5	1049	c.668G>A	c.(667-669)cGc>cAc	p.R223H	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H|TNFSF14_ENST00000326176.9_Missense_Mutation_p.R187H			O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCGAACCAGGCGTTCATCCAG	0.607																																						ENST00000326176.9																			0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						c.(559-561)cGc>cAc		tumor necrosis factor (ligand) superfamily, member 14							187.0	153.0	165.0					19																	6664992		2203	4300	6503	SO:0001583	missense	0				cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	g.chr19:6664992C>T	AF036581	CCDS12171.1, CCDS45939.1	19p13.3	2008-02-05				ENSG00000125735		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11930	protein-coding gene	gene with protein product		604520				9462508	Standard	NM_172014		Approved	LIGHT, LTg, HVEM-L, CD258	uc002mfk.2	O43557		ENST00000599359.1:c.668G>A	19.37:g.6664992C>T	ENSP00000469049:p.Arg223His					TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H	p.R187H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN			5	941	-			223					A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2	Missense_Mutation	SNP	ENST00000599359.1	37	c.560G>A	CCDS12171.1	.	.	.	.	.	.	.	.	.	.	C	8.960	0.970269	0.18659	.	.	ENSG00000125735	ENST00000245912;ENST00000326176	T	0.30448	1.53	4.46	-0.128	0.13506	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	1.337180	0.05076	N	0.482571	T	0.29093	0.0723	L	0.52364	1.645	0.09310	N	1	P;P	0.52842	0.956;0.946	B;B	0.41036	0.346;0.234	T	0.36841	-0.9731	10	0.54805	T	0.06	-15.216	8.2597	0.31777	0.0:0.4531:0.0:0.5469	.	223;187	O43557;O43557-2	TNF14_HUMAN;.	H	223;187	ENSP00000326940:R187H	ENSP00000245912:R223H	R	-	2	0	TNFSF14	6615992	0.000000	0.05858	0.000000	0.03702	0.062000	0.15995	0.117000	0.15583	-0.191000	0.10448	-0.258000	0.10820	CGC		0.607	TNFSF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457863.1			41	73	0	0	0	1	0	41	73				
SCN9A	6335	broad.mit.edu	37	2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A	rs560168893		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:167055493G>A	ENST00000409435.1	-	26	5655	c.5656C>T	c.(5656-5658)Cgg>Tgg	p.R1886W	SCN9A_ENST00000375387.4_Missense_Mutation_p.R1887W|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1887W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1886					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1875W(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTTGTTTCCGTTTTAGTGTG	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		22189	0.001		0.0	False		,,,				2504	0.0					ENST00000375387.4																			1	Substitution - Missense(1)	p.R1875W(1)	large_intestine(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(5659-5661)Cgg>Tgg		sodium channel, voltage-gated, type IX, alpha subunit	Lamotrigine(DB00555)|Lidocaine(DB00281)						183.0	199.0	194.0					2																	167055493		2202	4300	6502	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167055493G>A	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5656C>T	2.37:g.167055493G>A	ENSP00000386330:p.Arg1886Trp					AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1886W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1887W	p.R1887W			Q15858	SCN9A_HUMAN			27	5999	-			1886					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5659C>T	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.332432	0.41297	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.96587	-4.04;-4.06;-4.06;-4.06	6.17	0.862	0.19056	.	0.000000	0.52532	D	0.000068	D	0.97692	0.9243	M	0.78916	2.43	0.53005	D	0.999965	D	0.89917	1.0	D	0.85130	0.997	D	0.96903	0.9661	10	0.49607	T	0.09	.	16.6386	0.85065	0.0:0.0:0.4447:0.5553	.	1875	E7EUN6	.	W	1875;1887;1887;1886	ENSP00000386306:R1875W;ENSP00000364536:R1887W;ENSP00000304748:R1887W;ENSP00000386330:R1886W	ENSP00000304748:R1887W	R	-	1	2	SCN9A	166763739	1.000000	0.71417	0.971000	0.41717	0.587000	0.36485	1.079000	0.30766	0.132000	0.18615	-0.181000	0.13052	CGG		0.403	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977		48	78	0	0	0	1	0	48	78				
PCMTD1	115294	broad.mit.edu	37	8	52733212	52733212	+	Missense_Mutation	SNP	A	A	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:52733212A>G	ENST00000360540.5	-	7	1179	c.773T>C	c.(772-774)tTc>tCc	p.F258S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	258						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCATTTATGAAATTTCTAAG	0.393																																						ENST00000360540.5																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(772-774)tTc>tCc		protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1							79.0	83.0	81.0					8																	52733212		2203	4300	6503	SO:0001583	missense	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733212A>G		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.773T>C	8.37:g.52733212A>G	ENSP00000353739:p.Phe258Ser					PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S	p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN			7	1179	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	258					Q96FK9	Missense_Mutation	SNP	ENST00000360540.5	37	c.773T>C	CCDS6148.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028615	0.35797	.	.	ENSG00000168300	ENST00000360540;ENST00000544451;ENST00000522514	T;T;T	0.62639	0.01;0.01;0.01	5.77	5.77	0.91146	.	0.054690	0.85682	D	0.000000	T	0.47893	0.1470	L	0.36672	1.1	0.40091	D	0.976258	B;P;B	0.41848	0.201;0.763;0.002	B;B;B	0.39027	0.055;0.288;0.007	T	0.46721	-0.9171	10	0.21540	T	0.41	-31.2271	7.9301	0.29897	0.723:0.1415:0.0:0.1355	.	128;182;258	B4E2B4;F5H1M8;Q96MG8	.;.;PCMD1_HUMAN	S	258;182;258	ENSP00000353739:F258S;ENSP00000444026:F182S;ENSP00000428099:F258S	ENSP00000353739:F258S	F	-	2	0	PCMTD1	52895765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.197000	0.65141	2.198000	0.70561	0.533000	0.62120	TTC		0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937		5	96	0	0	0	1	0	5	96				
PPFIA2	8499	broad.mit.edu	37	12	81746923	81746923	+	Silent	SNP	A	A	G	rs573343081		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr12:81746923A>G	ENST00000549396.1	-	17	2129	c.1969T>C	c.(1969-1971)Ttg>Ctg	p.L657L	PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000549325.1_Silent_p.L639L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000550584.2_Silent_p.L657L|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000333447.7_Silent_p.L639L	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	657					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGCATCCAATTGTTCCTGA	0.368													A|||	1	0.000199681	0.0	0.0	5008	,	,		19392	0.001		0.0	False		,,,				2504	0.0					ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(1969-1971)Ttg>Ctg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							144.0	136.0	138.0					12																	81746923		1949	4169	6118	SO:0001819	synonymous_variant	8499							g.chr12:81746923A>G	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1969T>C	12.37:g.81746923A>G						PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000333447.7_Silent_p.L639L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549396.1_Silent_p.L657L|PPFIA2_ENST00000549325.1_Silent_p.L639L	p.L657L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			16	2264	-			583					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	c.1969T>C	CCDS55857.1																																																																																				0.368	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			19	28	0	0	0	1	0	19	28				
CDH22	64405	broad.mit.edu	37	20	44839196	44839196	+	Missense_Mutation	SNP	G	G	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:44839196G>C	ENST00000372262.3	-	6	1436	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	CDH22_ENST00000537909.1_Missense_Mutation_p.L346V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	346	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGAAGTCCAGGCGCTGCGGG	0.682																																						ENST00000372262.3																			0				endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44						c.(1036-1038)Ctg>Gtg		cadherin 22, type 2							37.0	36.0	36.0					20																	44839196		2202	4298	6500	SO:0001583	missense	64405				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr20:44839196G>C	AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.1036C>G	20.37:g.44839196G>C	ENSP00000361336:p.Leu346Val					CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.L346V	p.L346V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN			6	1436	-		Myeloproliferative disorder(115;0.0122)	346			Cadherin 3.		B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	c.1036C>G	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147297	0.57151	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.73152	-0.72;-0.72	4.25	3.29	0.37713	Cadherin (5);Cadherin-like (1);	0.000000	0.64402	D	0.000005	T	0.82066	0.4956	M	0.77313	2.365	0.51012	D	0.999907	D	0.76494	0.999	D	0.87578	0.998	T	0.80690	-0.1270	10	0.30078	T	0.28	.	13.1966	0.59743	0.0:0.1612:0.8388:0.0	.	346	Q9UJ99	CAD22_HUMAN	V	346	ENSP00000361336:L346V;ENSP00000437790:L346V	ENSP00000361336:L346V	L	-	1	2	CDH22	44272603	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.604000	0.61112	1.006000	0.39211	0.555000	0.69702	CTG		0.682	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248		12	16	0	0	0	1	0	12	16				
UGT2A1	10941	broad.mit.edu	37	4	70465099	70465099	+	Silent	SNP	C	C	T	rs141938191		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:70465099C>T	ENST00000503640.1	-	2	784	c.729G>A	c.(727-729)acG>acA	p.T243T	UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000286604.4_Silent_p.T287T|UGT2A1_ENST00000512704.1_Silent_p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	243					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTCACATAACGTAGTGGGTC	0.368													C|||	1	0.000199681	0.0	0.0	5008	,	,		16657	0.0		0.0	False		,,,				2504	0.001					ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(727-729)acG>acA		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus		C	,	1,4405	2.1+/-5.4	0,1,2202	71.0	68.0	69.0		756,729	-0.9	0.1	4	dbSNP_134	69	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	UGT2A1,UGT2A2	NM_001105677.2,NM_006798.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	252/537,243/528	70465099	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70465099C>T	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.729G>A	4.37:g.70465099C>T						UGT2A1_ENST00000512704.1_Silent_p.T243T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A1_ENST00000286604.4_Silent_p.T287T	p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			2	784	-			243					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.729G>A	CCDS3529.1																																																																																				0.368	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		27	37	0	0	0	1	0	27	37				
PXDN	7837	broad.mit.edu	37	2	1653369	1653369	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:1653369C>T	ENST00000252804.4	-	17	2233	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	728					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R728H(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGTTCACGCGCCGGTGGGC	0.602																																						ENST00000252804.4																			1	Substitution - Missense(1)	p.R728H(1)	lung(1)	breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112						c.(2182-2184)cGc>cAc		peroxidasin homolog (Drosophila)							84.0	91.0	89.0					2																	1653369		2089	4207	6296	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1653369C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2183G>A	2.37:g.1653369C>T	ENSP00000252804:p.Arg728His						p.R728H	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	2233	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	728					A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.2183G>A	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310209	0.60414	.	.	ENSG00000130508	ENST00000252804	T	0.61510	0.1	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	L	0.34521	1.04	0.80722	D	1	B	0.26775	0.159	B	0.24701	0.055	T	0.41698	-0.9494	10	0.36615	T	0.2	-42.8173	19.7328	0.96190	0.0:1.0:0.0:0.0	.	728	Q92626	PXDN_HUMAN	H	728	ENSP00000252804:R728H	ENSP00000252804:R728H	R	-	2	0	PXDN	1632376	1.000000	0.71417	0.982000	0.44146	0.843000	0.47879	7.702000	0.84576	2.661000	0.90470	0.558000	0.71614	CGC		0.602	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		29	32	0	0	0	1	0	29	32				
SNED1	25992	broad.mit.edu	37	2	242002232	242002232	+	Missense_Mutation	SNP	C	C	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:242002232C>T	ENST00000310397.8	+	17	2282	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|SNED1_ENST00000342631.6_Missense_Mutation_p.P761L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	761	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGTCTCAGCCGTGCCTGCAT	0.557																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(2281-2283)cCg>cTg		sushi, nidogen and EGF-like domains 1							45.0	45.0	45.0					2																	242002232		2037	4194	6231	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242002232C>T	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2282C>T	2.37:g.242002232C>T	ENSP00000308893:p.Pro761Leu					SNED1_ENST00000342631.6_Missense_Mutation_p.P761L|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA	p.P761L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	17	2282	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	761			EGF-like 11; calcium-binding (Potential).		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.2282C>T	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883234	0.51908	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	4.71	3.83	0.44106	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.113631	0.39615	N	0.001307	D	0.97763	0.9266	M	0.88377	2.95	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98115	1.0422	10	0.87932	D	0	.	12.9738	0.58527	0.0:0.9211:0.0:0.0789	.	761	Q8TER0	SNED1_HUMAN	L	761	ENSP00000384871:P761L;ENSP00000386007:P761L;ENSP00000308893:P761L;ENSP00000342992:P761L	ENSP00000308893:P761L	P	+	2	0	SNED1	241650905	1.000000	0.71417	0.889000	0.34880	0.067000	0.16453	6.340000	0.72973	0.974000	0.38366	-0.150000	0.13652	CCG		0.557	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		3	11	0	0	0	1	0	3	11				
CEACAM20	125931	broad.mit.edu	37	19	45017234	45017234	+	RNA	SNP	C	C	G			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:45017234C>G	ENST00000454753.1	-	0	1702							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTGTTACCGTCTGGCATTTCT	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							63.0	60.0	61.0					19																	45017234		1951	4146	6097			125931					integral to membrane		g.chr19:45017234C>G	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45017234C>G			OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	928					Q6UY09	CEA20_HUMAN			0	1702	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.582	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		18	25	0	0	0	1	0	18	25				
ZC3H11A	9877	broad.mit.edu	37	1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-30)tattttfs	p.YF9fs	ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.YF9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGACTGCTATTTTTTTTTCT	0.371																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(25-27)tttfs		zinc finger CCCH-type containing 11A																																				SO:0001589	frameshift_variant	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203786224_203786225insT		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.35dupT	1.37:g.203786233_203786233dupT	ENSP00000438527:p.Tyr9fs					ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.F9fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.F9fs	p.F9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	3853_3854	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		9					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Frame_Shift_Ins	INS	ENST00000545588.1	37	c.26_27insT	CCDS30978.1																																																																																				0.371	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		8	244						8	244	---	---	---	---
PTEN	5728	broad.mit.edu	37	10	89712016	89712019	+	Splice_Site	DEL	AGTA	AGTA	-			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:89712016_89712019delAGTA	ENST00000371953.3	+	6	1991	c.634delAGTA	c.(634-636)agt>gt	p.S212fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	212	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGGAACTTGCAGTAAGTGCTTGAA	0.338		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		59	Whole gene deletion(37)|Unknown(11)|Deletion - Frameshift(10)|Deletion - In frame(1)	p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|skin(8)|endometrium(4)|lung(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)|kidney(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CS043793	PTEN	S		c.e6+1		phosphatase and tensin homolog																																				SO:0001630	splice_region_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89712016_89712019delAGTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1AGTA>-	10.37:g.89712016_89712019delAGTA		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_ENST00000472832.1_3'UTR	p.212_splice	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1991	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	212			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	DEL	ENST00000371953.3	37	c.634_splice	CCDS31238.1																																																																																				0.338	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Frame_Shift_Del	55	15						55	15	---	---	---	---
SERPINB11	89778	broad.mit.edu	37	18	61388270	61388271	+	RNA	DEL	AC	AC	-	rs147551453		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr18:61388270_61388271delAC	ENST00000382749.5	+	0	1019				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000544088.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GTGCATGTTAACACACACACAC	0.386																																					Ovarian(27;496 784 5942 8975 23930)	ENST00000544088.1																			0				breast(1)|cervix(1)|kidney(1)|lung(3)	6								serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)																																						89778				regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	g.chr18:61388270_61388271delAC			18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61388280_61388281delAC						SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA		NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN			0	836	+		Esophageal squamous(42;0.129)						A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	DEL	ENST00000382749.5	37																																																																																						0.386	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		2	4						2	4	---	---	---	---
PRR12	57479	broad.mit.edu	37	19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703																																						ENST00000418929.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11						c.(670-672)cccfs		proline rich 12																																				SO:0001589	frameshift_variant	57479						DNA binding	g.chr19:50098262_50098263insC	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.677dupC	19.37:g.50098269_50098269dupC	ENSP00000394510:p.Thr224fs						p.P224fs	NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	4	682_683	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	4			Pro-rich.		E9PB06|Q8N4J6	Frame_Shift_Ins	INS	ENST00000418929.2	37	c.670_671insC	CCDS46143.1																																																																																				0.703	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		4	6						4	6	---	---	---	---
