#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
ANKDD1A	348094	broad.mit.edu	37	15	65239792	65239792	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:65239792G>A	ENST00000380230.3	+	13	1359	c.1330G>A	c.(1330-1332)Gcc>Acc	p.A444T	ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A412T|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A321T|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A444T	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	444	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				signal transduction (GO:0007165)					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACATGTCGACGCCATCGAGCA	0.592																																						ENST00000380230.3																			0				NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						c.(1330-1332)Gcc>Acc		ankyrin repeat and death domain containing 1A							71.0	47.0	55.0					15																	65239792		2202	4299	6501	SO:0001583	missense	348094				signal transduction			g.chr15:65239792G>A		CCDS10197.2	15q22.31	2013-01-10	2006-02-16		ENSG00000166839	ENSG00000166839		"""Ankyrin repeat domain containing"""	28002	protein-coding gene	gene with protein product						12477932	Standard	NM_182703		Approved	FLJ25870	uc002aoa.3	Q495B1	OTTHUMG00000133051	ENST00000380230.3:c.1330G>A	15.37:g.65239792G>A	ENSP00000369579:p.Ala444Thr					ANKDD1A_ENST00000395720.1_Missense_Mutation_p.A444T|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.A412T|ANKDD1A_ENST00000395723.1_Missense_Mutation_p.A321T	p.A444T	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN			13	1359	+			444			Death.		Q495B2|Q495B3|Q8N7A0|Q8NBS5	Missense_Mutation	SNP	ENST00000380230.3	37	c.1330G>A	CCDS10197.2	.	.	.	.	.	.	.	.	.	.	G	19.30	3.801869	0.70682	.	.	ENSG00000166839	ENST00000380230;ENST00000357698;ENST00000395720;ENST00000395723	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	4.56	4.56	0.56223	Death (2);DEATH-like (2);	0.000000	0.64402	D	0.000020	D	0.91952	0.7451	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.92386	0.5917	10	0.51188	T	0.08	-21.9078	16.0923	0.81101	0.0:0.0:1.0:0.0	.	444	Q495B1	AKD1A_HUMAN	T	444;412;444;321	ENSP00000369579:A444T;ENSP00000350329:A412T;ENSP00000379070:A444T;ENSP00000379073:A321T	ENSP00000350329:A412T	A	+	1	0	ANKDD1A	63026845	1.000000	0.71417	0.937000	0.37676	0.162000	0.22319	9.170000	0.94795	2.388000	0.81334	0.609000	0.83330	GCC		0.592	ANKDD1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256705.2	NM_182703		3	17	0	0	0	1	0	3	17				
FGF5	2250	broad.mit.edu	37	4	81188003	81188003	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr4:81188003C>T	ENST00000312465.7	+	1	251	c.25C>T	c.(25-27)Ctc>Ttc	p.L9F	FGF5_ENST00000456523.3_Missense_Mutation_p.L9F	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	9					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CCTCCTCCTCCTCTTCTTCAG	0.627																																						ENST00000456523.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(25-27)Ctc>Ttc		fibroblast growth factor 5							41.0	45.0	43.0					4																	81188003		2202	4299	6501	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188003C>T	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.25C>T	4.37:g.81188003C>T	ENSP00000311697:p.Leu9Phe					FGF5_ENST00000312465.7_Missense_Mutation_p.L9F	p.L9F	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN			1	211	+			9					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.25C>T	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.240743	0.58995	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.11712	2.75;2.75	5.36	4.5	0.54988	.	0.504072	0.19266	N	0.118534	T	0.15825	0.0381	N	0.24115	0.695	0.25746	N	0.985108	D;P	0.63046	0.992;0.883	P;P	0.62298	0.9;0.459	T	0.04693	-1.0933	10	0.59425	D	0.04	.	8.6866	0.34240	0.1571:0.7677:0.0:0.0751	.	9;9	P12034-2;P12034	.;FGF5_HUMAN	F	9	ENSP00000311697:L9F;ENSP00000398353:L9F	ENSP00000311697:L9F	L	+	1	0	FGF5	81407027	0.990000	0.36364	0.997000	0.53966	0.872000	0.50106	0.465000	0.22004	1.436000	0.47453	0.561000	0.74099	CTC		0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			3	50	0	0	0	1	0	3	50				
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542																																						ENST00000285900.5																			1	Substitution - Missense(1)	p.R455H(1)	prostate(1)	NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(1363-1365)cGt>cAt		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						95.0	86.0	89.0					5																	153078545		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153078545G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1364G>A	5.37:g.153078545G>A	ENSP00000285900:p.Arg455His					GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H	p.R455H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		10	1707	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	455					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.1364G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.045356	0.75846	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.39229	1.67;1.67;1.09;1.67;1.67;1.67;1.09	5.44	4.58	0.56647	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.117144	0.64402	D	0.000015	T	0.42810	0.1219	L	0.37507	1.11	0.40583	D	0.98141	D;D;B;D;P;B	0.54207	0.965;0.965;0.334;0.965;0.897;0.09	P;P;B;P;B;B	0.52109	0.69;0.69;0.105;0.69;0.439;0.042	T	0.43556	-0.9384	10	0.87932	D	0	.	9.5797	0.39479	0.1592:0.0:0.8408:0.0	.	465;465;375;465;455;455	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	H	455;455;375;409;455;386;386;465;465	ENSP00000285900:R455H;ENSP00000427920:R375H;ENSP00000339343:R455H;ENSP00000427864:R386H;ENSP00000442108:R386H;ENSP00000428994:R465H;ENSP00000415569:R465H	ENSP00000285900:R455H	R	+	2	0	GRIA1	153058738	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	1.664000	0.37439	1.300000	0.44818	-0.136000	0.14681	CGT		0.542	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			11	35	0	0	0	1	0	11	35				
WDR48	57599	broad.mit.edu	37	3	39125653	39125653	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr3:39125653A>C	ENST00000302313.5	+	12	1209	c.1181A>C	c.(1180-1182)aAa>aCa	p.K394T	WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000418020.1_5'UTR	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN	WD repeat domain 48	394					double-strand break repair via homologous recombination (GO:0000724)|embryonic organ development (GO:0048568)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|positive regulation of epithelial cell proliferation (GO:0050679)|protein deubiquitination (GO:0016579)|regulation of protein monoubiquitination (GO:1902525)|seminiferous tubule development (GO:0072520)|single fertilization (GO:0007338)|skeletal system morphogenesis (GO:0048705)|skin development (GO:0043588)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TAGGCATGTAAAGTTGAAGAT	0.303																																						ENST00000302313.5																			0				breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(1180-1182)aAa>aCa		WD repeat domain 48							84.0	91.0	89.0					3																	39125653		2203	4297	6500	SO:0001583	missense	57599				interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	g.chr3:39125653A>C	AF468833	CCDS33738.1	3p21.33	2014-06-16			ENSG00000114742	ENSG00000114742		"""WD repeat domain containing"""	30914	protein-coding gene	gene with protein product		612167				10819331, 12196293, 24482476	Standard	NM_020839		Approved	KIAA1449, P80, SPG60	uc003cit.3	Q8TAF3	OTTHUMG00000155972	ENST00000302313.5:c.1181A>C	3.37:g.39125653A>C	ENSP00000307491:p.Lys394Thr					WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000396258.3_Missense_Mutation_p.K312T	p.K394T	NM_020839.2	NP_065890.1	Q8TAF3	WDR48_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	12	1209	+			394					B4DM86|B4DQI2|B4DY84|Q63HJ2|Q658Y1|Q8N3Z1|Q9NSK8|Q9P279	Missense_Mutation	SNP	ENST00000302313.5	37	c.1181A>C	CCDS33738.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.774762	0.90108	.	.	ENSG00000114742	ENST00000302313;ENST00000544962;ENST00000396258	T;D;T	0.89810	1.11;-2.57;0.83	5.91	5.91	0.95273	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.82517	2.595	0.80722	D	1	D;D;D;D	0.76494	0.989;0.993;0.999;0.999	D;P;D;D	0.70935	0.969;0.888;0.951;0.971	D	0.92418	0.5943	10	0.16420	T	0.52	0.0194	16.3483	0.83171	1.0:0.0:0.0:0.0	.	119;312;385;394	Q8TAF3-5;Q8TAF3-4;Q8TAF3-3;Q8TAF3	.;.;.;WDR48_HUMAN	T	394;119;312	ENSP00000307491:K394T;ENSP00000445187:K119T;ENSP00000379557:K312T	ENSP00000307491:K394T	K	+	2	0	WDR48	39100657	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	2.254000	0.74563	0.533000	0.62120	AAA		0.303	WDR48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342529.1	NM_020839		9	17	0	0	0	1	0	9	17				
BDP1	55814	broad.mit.edu	37	5	70856003	70856003	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:70856003G>T	ENST00000358731.4	+	37	7698	c.7435G>T	c.(7435-7437)Gct>Tct	p.A2479S	BDP1_ENST00000380675.2_3'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2479					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGAACTGATGCTGCTCCTAA	0.413																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(7435-7437)Gct>Tct		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							105.0	98.0	101.0					5																	70856003		1942	4164	6106	SO:0001583	missense	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70856003G>T	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.7435G>T	5.37:g.70856003G>T	ENSP00000351575:p.Ala2479Ser					BDP1_ENST00000380675.2_3'UTR	p.A2479S	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	37	7698	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	2479					Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	c.7435G>T	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.797109	0.50208	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.06294	3.32	4.89	-0.875	0.10628	.	1.041600	0.07586	N	0.921107	T	0.05547	0.0146	L	0.54323	1.7	0.46631	D	0.999136	B	0.33318	0.408	B	0.28784	0.094	T	0.40327	-0.9569	10	0.40728	T	0.16	.	0.4666	0.00525	0.3097:0.1546:0.3332:0.2025	.	2479	A6H8Y1	BDP1_HUMAN	S	2479;2027	ENSP00000351575:A2479S	ENSP00000351575:A2479S	A	+	1	0	BDP1	70891759	0.139000	0.22563	0.767000	0.31495	0.819000	0.46315	0.198000	0.17217	-0.413000	0.07507	0.585000	0.79938	GCT		0.413	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		3	39	1	0	0.00909568	1	0.00963072	3	39				
PCDHB16	57717	broad.mit.edu	37	5	140563062	140563062	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:140563062G>A	ENST00000361016.2	+	1	2083	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTAGATTTCGAAATGGTTAC	0.443																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(928-930)Gaa>Aaa									86.0	94.0	91.0					5																	140563062		2202	4300	6502	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563062G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.928G>A	5.37:g.140563062G>A	ENSP00000354293:p.Glu310Lys						p.E310K	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2083	+			310			Cadherin 3.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.928G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.832413	0.71258	.	.	ENSG00000196963	ENST00000361016	T	0.72394	-0.65	4.75	4.75	0.60458	Cadherin (4);Cadherin-like (1);	0.000000	0.35436	N	0.003217	D	0.90010	0.6881	H	0.97340	3.985	0.50313	D	0.999866	D	0.89917	1.0	D	0.97110	1.0	D	0.93933	0.7216	10	0.87932	D	0	.	17.7391	0.88403	0.0:0.0:1.0:0.0	.	310	Q9NRJ7	PCDBG_HUMAN	K	310	ENSP00000354293:E310K	ENSP00000354293:E310K	E	+	1	0	PCDHB16	140543246	1.000000	0.71417	0.815000	0.32552	0.009000	0.06853	9.792000	0.99085	2.169000	0.68431	0.591000	0.81541	GAA		0.443	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		5	52	0	0	0	1	0	5	52				
GRIK3	2899	broad.mit.edu	37	1	37282824	37282824	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:37282824C>A	ENST00000373091.3	-	13	1944	c.1928G>T	c.(1927-1929)tGg>tTg	p.W643L	GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	643					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGTGAAGAACCACCAGATGCC	0.542																																						ENST00000373091.3																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1927-1929)tGg>tTg		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						173.0	150.0	158.0					1																	37282824		2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37282824C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1928G>T	1.37:g.37282824C>A	ENSP00000362183:p.Trp643Leu					GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	p.W643L	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN			13	1944	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	643					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1928G>T	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	33	5.278869	0.95489	.	.	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.55234	0.53;0.53	5.74	5.74	0.90152	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.81894	0.4919	H	0.95260	3.645	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	D	0.86731	0.1948	10	0.87932	D	0	.	19.9326	0.97124	0.0:1.0:0.0:0.0	.	643;643	A9Z1Z8;Q13003	.;GRIK3_HUMAN	L	643	ENSP00000362183:W643L;ENSP00000362185:W643L	ENSP00000362183:W643L	W	-	2	0	GRIK3	37055411	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.720000	0.93068	0.650000	0.86243	TGG		0.542	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		3	48	1	0	0.115264	1	0.119697	3	48				
MAML3	55534	broad.mit.edu	37	4	140811093	140811093	+	Silent	SNP	C	C	T	rs574825040|rs544518608|rs58287721	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr4:140811093C>T	ENST00000509479.2	-	2	2353	c.1497G>A	c.(1495-1497)caG>caA	p.Q499Q	MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.527													c|||	4	0.000798722	0.0008	0.0029	5008	,	,		15568	0.0		0.001	False		,,,				2504	0.0					ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1495-1497)caG>caA		mastermind-like 3 (Drosophila)							15.0	22.0	20.0					4																	140811093		2118	4262	6380	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811093C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1497G>A	4.37:g.140811093C>T						MAML3_ENST00000327122.5_Silent_p.Q343Q|MAML3_ENST00000398940.1_Intron	p.Q499Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2353	-	all_hematologic(180;0.162)		499			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1497G>A	CCDS54805.1																																																																																				0.527	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	27	0	0	0	1	0	3	27				
TTC13	79573	broad.mit.edu	37	1	231060649	231060649	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:231060649C>T	ENST00000366661.4	-	14	1666	c.1659G>A	c.(1657-1659)atG>atA	p.M553I	TTC13_ENST00000366662.4_Missense_Mutation_p.M500I|TTC13_ENST00000414259.1_Missense_Mutation_p.M500I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	553										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TCTTCCCATTCATTCGAACTT	0.433																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(1657-1659)atG>atA		tetratricopeptide repeat domain 13							223.0	182.0	196.0					1																	231060649		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231060649C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1659G>A	1.37:g.231060649C>T	ENSP00000355621:p.Met553Ile					TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	p.M553I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	14	1666	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	553					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1659G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599190	0.28534	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259	T;T;T	0.32272	1.46;1.46;1.46	5.2	5.2	0.72013	.	0.137522	0.64402	D	0.000002	T	0.11879	0.0289	N	0.01576	-0.805	0.36156	D	0.847761	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.22347	-1.0219	10	0.13853	T	0.58	-26.8321	14.006	0.64463	0.1513:0.8487:0.0:0.0	.	478;500;500;553	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	I	553;500;500	ENSP00000355621:M553I;ENSP00000355622:M500I;ENSP00000416631:M500I	ENSP00000355621:M553I	M	-	3	0	TTC13	229127272	1.000000	0.71417	0.913000	0.36048	0.795000	0.44927	1.851000	0.39338	2.576000	0.86940	0.655000	0.94253	ATG		0.433	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		34	47	0	0	0	1	0	34	47				
ABCB4	5244	broad.mit.edu	37	7	87037488	87037488	+	Silent	SNP	G	G	A	rs8187807		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:87037488G>A	ENST00000265723.4	-	25	3255	c.3144C>T	c.(3142-3144)aaC>aaT	p.N1048N	ABCB4_ENST00000358400.3_Silent_p.N1001N|ABCB4_ENST00000359206.3_Silent_p.N1048N|ABCB4_ENST00000545634.1_Silent_p.N1048N|ABCB4_ENST00000453593.1_Silent_p.N1001N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1048	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	GCACTGGCACGTTTGCTCGGG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		18210	0.001		0.0	False		,,,				2504	0.0					ENST00000265723.4																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(3142-3144)aaC>aaT		ATP-binding cassette, sub-family B (MDR/TAP), member 4							80.0	79.0	79.0					7																	87037488		2203	4300	6503	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87037488G>A	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3144C>T	7.37:g.87037488G>A						ABCB4_ENST00000359206.3_Silent_p.N1048N|ABCB4_ENST00000358400.3_Silent_p.N1001N|ABCB4_ENST00000545634.1_Silent_p.N1048N|ABCB4_ENST00000453593.1_Silent_p.N1001N	p.N1048N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN			25	3255	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		1048			ABC transporter 2.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.3144C>T	CCDS5606.1																																																																																				0.478	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443		3	63	0	0	0	1	0	3	63				
BASP1	10409	broad.mit.edu	37	5	17275414	17275414	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr5:17275414C>T	ENST00000322611.3	+	2	349	c.89C>T	c.(88-90)gCg>gTg	p.A30V		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	30					diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						GAGGGCGCGGCGACGGAAGAG	0.632																																						ENST00000322611.3																			0				endometrium(1)|lung(8)	9						c.(88-90)gCg>gTg		brain abundant, membrane attached signal protein 1							34.0	40.0	38.0					5																	17275414		2198	4296	6494	SO:0001583	missense	10409				glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr5:17275414C>T	AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061	ENST00000322611.3:c.89C>T	5.37:g.17275414C>T	ENSP00000319281:p.Ala30Val						p.A30V	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN			2	349	+			30					B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	Missense_Mutation	SNP	ENST00000322611.3	37	c.89C>T	CCDS3888.1	.	.	.	.	.	.	.	.	.	.	C	4.649	0.120709	0.08881	.	.	ENSG00000176788	ENST00000322611;ENST00000447228	T	0.48836	0.8	4.57	3.69	0.42338	.	0.554781	0.16135	N	0.228009	T	0.24236	0.0587	N	0.14661	0.345	0.09310	N	1	P	0.38597	0.639	B	0.30251	0.113	T	0.06373	-1.0830	10	0.36615	T	0.2	-13.5381	7.0178	0.24897	0.0951:0.36:0.5449:0.0	.	30	P80723	BASP1_HUMAN	V	30	ENSP00000319281:A30V	ENSP00000319281:A30V	A	+	2	0	BASP1	17328414	0.949000	0.32298	0.043000	0.18650	0.193000	0.23685	2.469000	0.45110	0.889000	0.36185	-0.519000	0.04390	GCG		0.632	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253716.2			8	21	0	0	0	1	0	8	21				
MCM8	84515	broad.mit.edu	37	20	5967931	5967931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr20:5967931C>T	ENST00000378896.3	+	17	2544	c.2167C>T	c.(2167-2169)Cga>Tga	p.R723*	MCM8_ENST00000378883.1_Nonsense_Mutation_p.R676*|MCM8_ENST00000378886.2_Nonsense_Mutation_p.R763*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.R707*	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	723					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTTAAAGGCACGAGCAAGGTT	0.308																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(2167-2169)Cga>Tga		minichromosome maintenance complex component 8							116.0	121.0	119.0					20																	5967931		2203	4300	6503	SO:0001587	stop_gained	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5967931C>T	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.2167C>T	20.37:g.5967931C>T	ENSP00000368174:p.Arg723*					MCM8_ENST00000378886.2_Nonsense_Mutation_p.R763*|MCM8_ENST00000265187.4_Nonsense_Mutation_p.R707*|MCM8_ENST00000378883.1_Nonsense_Mutation_p.R676*	p.R723*	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			17	2544	+			723					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Nonsense_Mutation	SNP	ENST00000378896.3	37	c.2167C>T	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	C	42	9.577314	0.99210	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	.	.	.	5.73	4.79	0.61399	.	0.063541	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.219	13.0894	0.59158	0.0:0.9259:0.0:0.0741	.	.	.	.	X	723;676;763;707	.	ENSP00000265187:R707X	R	+	1	2	MCM8	5915931	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.312000	0.65792	1.424000	0.47217	-0.140000	0.14226	CGA		0.308	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		4	50	0	0	0	1	0	4	50				
CDC16	8881	broad.mit.edu	37	13	115016141	115016141	+	Silent	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:115016141G>A	ENST00000356221.3	+	12	1197	c.1089G>A	c.(1087-1089)ctG>ctA	p.L363L	CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000360383.3_Silent_p.L363L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L			Q13042	CDC16_HUMAN	cell division cycle 16	363					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of mitosis (GO:0007088)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|spindle (GO:0005819)				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			CAGCACAGCTGATGAAAGGGT	0.433																																						ENST00000360383.3																			0				endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1087-1089)ctG>ctA		cell division cycle 16							93.0	77.0	83.0					13																	115016141		2203	4300	6503	SO:0001819	synonymous_variant	8881				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding	g.chr13:115016141G>A	U18291	CCDS9542.2	13q34	2013-01-17	2013-01-17		ENSG00000130177	ENSG00000130177		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1720	protein-coding gene	gene with protein product	"""anaphase-promoting complex, subunit 6"""	603461	"""CDC16 (cell division cycle 16, S. cerevisiae, homolog)"", ""CDC16 cell division cycle 16 homolog (S. cerevisiae)"", ""cell division cycle 16 homolog (S. cerevisiae)"""			7736578	Standard	NM_001078645		Approved	APC6, ANAPC6, CUT9	uc001vul.1	Q13042	OTTHUMG00000017402	ENST00000356221.3:c.1089G>A	13.37:g.115016141G>A						CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252457.5_Silent_p.L362L	p.L363L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)		12	1287	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	363					A2A365|Q5T8C8|Q96AE6|Q9Y564	Silent	SNP	ENST00000356221.3	37	c.1089G>A	CCDS9542.2																																																																																				0.433	CDC16-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276737.1	NM_003903		19	18	0	0	0	1	0	19	18				
GUCA1A	2978	broad.mit.edu	37	6	42146547	42146547	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:42146547G>A	ENST00000394237.1	+	5	1335	c.359G>A	c.(358-360)cGc>cAc	p.R120H	GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CAGGCCATTCGCGCCATTAAC	0.587																																						ENST00000394237.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7						c.(358-360)cGc>cAc		guanylate cyclase activator 1A (retina)							169.0	167.0	167.0					6																	42146547		2203	4300	6503	SO:0001583	missense	2978				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity	g.chr6:42146547G>A		CCDS4864.1	6p21.1	2013-06-06			ENSG00000048545	ENSG00000048545		"""EF-hand domain containing"""	4678	protein-coding gene	gene with protein product	"""cone dystrophy 3"""	600364	"""chromosome 6 open reading frame 131"""	GUCA, GUCA1, C6orf131		9425234	Standard	NM_000409		Approved	GCAP, GCAP1, COD3, dJ139D8.6, CORD14	uc003orx.3	P43080	OTTHUMG00000014696	ENST00000394237.1:c.359G>A	6.37:g.42146547G>A	ENSP00000377784:p.Arg120His					GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H	p.R120H			P43080	GUC1A_HUMAN	STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		5	1335	+	Colorectal(47;0.196)		120			EF-hand 3.		B3KWT4|Q7Z6T1|Q9NU14	Missense_Mutation	SNP	ENST00000394237.1	37	c.359G>A	CCDS4864.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.912811	0.92178	.	.	ENSG00000048545	ENST00000541991;ENST00000372965;ENST00000053469;ENST00000394237;ENST00000372958	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	4.63	4.63	0.57726	EF-hand-like domain (1);	2.531660	0.02769	U	0.119499	T	0.70474	0.3228	L	0.28115	0.83	0.80722	D	1	D	0.63046	0.992	P	0.61397	0.888	T	0.61407	-0.7069	10	0.66056	D	0.02	.	14.9915	0.71393	0.0:0.0:1.0:0.0	.	120	P43080	GUC1A_HUMAN	H	120;124;120;120;120	ENSP00000437476:R120H;ENSP00000053469:R120H;ENSP00000377784:R120H;ENSP00000362049:R120H	ENSP00000053469:R120H	R	+	2	0	GUCA1A	42254525	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	7.588000	0.82629	2.113000	0.64589	0.561000	0.74099	CGC		0.587	GUCA1A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316582.1			63	106	0	0	0	1	0	63	106				
CYP2C19	1557	broad.mit.edu	37	10	96535189	96535189	+	Missense_Mutation	SNP	G	G	A	rs141774245	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr10:96535189G>A	ENST00000371321.3	+	3	456	c.374G>A	c.(373-375)cGt>cAt	p.R125H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	125					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)	p.R125H(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	GAGATCCGGCGTTTCTCCCTC	0.507																																						ENST00000371321.3																			1	Substitution - Missense(1)	p.R125H(1)	endometrium(1)	central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(373-375)cGt>cAt		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	G	HIS/ARG	0,4406		0,0,2203	142.0	132.0	136.0		374	3.9	0.0	10	dbSNP_134	136	7,8593	5.0+/-18.6	0,7,4293	no	missense	CYP2C19	NM_000769.1	29	0,7,6496	AA,AG,GG		0.0814,0.0,0.0538	possibly-damaging	125/491	96535189	7,12999	2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96535189G>A	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.374G>A	10.37:g.96535189G>A	ENSP00000360372:p.Arg125His					CYP2C19_ENST00000464755.1_3'UTR	p.R125H	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	3	456	+		Colorectal(252;0.09)	125					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.374G>A	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	30	5.055875	0.93793	0.0	8.14E-4	ENSG00000165841	ENST00000371321	T	0.15603	2.41	3.9	3.9	0.45041	.	0.000000	0.64402	U	0.000003	T	0.28167	0.0695	M	0.88450	2.955	0.36709	D	0.880548	P	0.47604	0.898	B	0.40677	0.337	T	0.54629	-0.8265	10	0.56958	D	0.05	.	13.7827	0.63091	0.0:0.0:1.0:0.0	.	125	P33261	CP2CJ_HUMAN	H	125	ENSP00000360372:R125H	ENSP00000360372:R125H	R	+	2	0	CYP2C19	96525179	0.075000	0.21258	0.004000	0.12327	0.777000	0.43975	2.426000	0.44731	1.888000	0.54679	0.405000	0.27470	CGT		0.507	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		4	110	0	0	0	1	0	4	110				
AHCYL1	10768	broad.mit.edu	37	1	110555601	110555601	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:110555601C>A	ENST00000369799.5	+	5	927	c.560C>A	c.(559-561)gCt>gAt	p.A187D	AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	187					mRNA polyadenylation (GO:0006378)|one-carbon metabolic process (GO:0006730)|positive regulation of sodium ion transport (GO:0010765)|protein export from nucleus (GO:0006611)|regulation of anion transport (GO:0044070)|regulation of ion transmembrane transporter activity (GO:0032412)|regulation of mRNA 3'-end processing (GO:0031440)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	adenosylhomocysteinase activity (GO:0004013)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AATGAAGTAGCTGCAGCACTG	0.443																																						ENST00000369799.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18						c.(559-561)gCt>gAt		adenosylhomocysteinase-like 1							93.0	81.0	85.0					1																	110555601		2203	4300	6503	SO:0001583	missense	10768				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	g.chr1:110555601C>A	U82761	CCDS818.1, CCDS55620.1	1p13	2014-06-12	2009-06-12		ENSG00000168710	ENSG00000168710			344	protein-coding gene	gene with protein product	"""inositol 1,4,5-trisphosphate receptor-binding protein"", ""protein phosphatase 1, regulatory subunit 78"""	607826	"""S-adenosylhomocysteine hydrolase-like 1"""			11904675, 16754674, 12525476	Standard	NM_006621		Approved	XPVKONA, IRBIT, PPP1R78	uc001dyx.3	O43865	OTTHUMG00000011652	ENST00000369799.5:c.560C>A	1.37:g.110555601C>A	ENSP00000358814:p.Ala187Asp					AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D	p.A187D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)	5	927	+		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	187					B4E168|Q2TAJ6|Q502W8|Q5VSM0|Q6P171|Q96PK4|Q9UG84	Missense_Mutation	SNP	ENST00000369799.5	37	c.560C>A	CCDS818.1	.	.	.	.	.	.	.	.	.	.	C	36	5.603081	0.96614	.	.	ENSG00000168710	ENST00000369799;ENST00000359172;ENST00000393614	D;D;D	0.83506	-1.73;-1.73;-1.73	5.98	5.98	0.97165	S-adenosyl-L-homocysteine hydrolase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95385	0.8502	H	0.98965	4.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96566	0.9419	10	0.87932	D	0	-10.8515	20.452	0.99131	0.0:1.0:0.0:0.0	.	187	O43865	SAHH2_HUMAN	D	187;140;140	ENSP00000358814:A187D;ENSP00000352092:A140D;ENSP00000377238:A140D	ENSP00000352092:A140D	A	+	2	0	AHCYL1	110357124	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.796000	0.85898	2.838000	0.97847	0.591000	0.81541	GCT		0.443	AHCYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032243.1			3	28	1	0	1	1	1	3	28				
NOP58	51602	broad.mit.edu	37	2	203160435	203160435	+	Missense_Mutation	SNP	G	G	A	rs150533873		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:203160435G>A	ENST00000264279.5	+	10	1172	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SNORD11_ENST00000459124.1_RNA	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	316	Nop. {ECO:0000255|PROSITE- ProRule:PRU00690}.				cell growth (GO:0016049)|rRNA processing (GO:0006364)|snRNP protein import into nucleus (GO:0006608)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|snoRNA binding (GO:0030515)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGCTTCTACCGTTCAGATTCT	0.413													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17122	0.0		0.0	False		,,,				2504	0.0					ENST00000264279.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						c.(946-948)Gtt>Att		NOP58 ribonucleoprotein		G	ILE/VAL	2,4404	4.2+/-10.8	0,2,2201	113.0	122.0	119.0		946	6.2	1.0	2	dbSNP_134	119	3,8597	3.0+/-9.4	0,3,4297	yes	missense	NOP58	NM_015934.3	29	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	benign	316/530	203160435	5,13001	2203	4300	6503	SO:0001583	missense	51602				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding	g.chr2:203160435G>A		CCDS2353.1	2q33.1	2012-12-10	2012-12-10		ENSG00000055044	ENSG00000055044			29926	protein-coding gene	gene with protein product			"""NOP58 ribonucleoprotein homolog (yeast)"""			10606270, 10925205	Standard	NM_015934		Approved	NOP5, HSPC120	uc002uzb.3	Q9Y2X3	OTTHUMG00000132840	ENST00000264279.5:c.946G>A	2.37:g.203160435G>A	ENSP00000264279:p.Val316Ile						p.V316I	NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN			10	1172	+			316			Nop.		Q53SA4|Q6PK08|Q9P036|Q9UFN3	Missense_Mutation	SNP	ENST00000264279.5	37	c.946G>A	CCDS2353.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962112	0.74016	4.54E-4	3.49E-4	ENSG00000055044	ENST00000264279	T	0.73897	-0.79	6.17	6.17	0.99709	Pre-mRNA processing ribonucleoprotein, snoRNA-binding domain (1);	0.114616	0.64402	D	0.000017	T	0.65678	0.2714	N	0.13235	0.315	0.80722	D	1	B	0.34372	0.451	B	0.38921	0.285	T	0.61168	-0.7117	10	0.27082	T	0.32	-9.934	20.8794	0.99867	0.0:0.0:1.0:0.0	.	316	Q9Y2X3	NOP58_HUMAN	I	316	ENSP00000264279:V316I	ENSP00000264279:V316I	V	+	1	0	NOP58	202868680	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.458000	0.97634	2.941000	0.99782	0.655000	0.94253	GTT		0.413	NOP58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256313.2	NM_015934		43	60	0	0	0	1	0	43	60				
QSER1	79832	broad.mit.edu	37	11	32994952	32994952	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:32994952G>C	ENST00000399302.2	+	11	5163	c.4828G>C	c.(4828-4830)Gaa>Caa	p.E1610Q	QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1610										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GAATGCTTTGGAAAGTTTTCC	0.328																																						ENST00000399302.2																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(4828-4830)Gaa>Caa		glutamine and serine rich 1							94.0	89.0	91.0					11																	32994952		1819	4074	5893	SO:0001583	missense	79832							g.chr11:32994952G>C	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.4828G>C	11.37:g.32994952G>C	ENSP00000382241:p.Glu1610Gln					QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	p.E1610Q	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN			11	5163	+	Breast(20;0.158)		1610					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.4828G>C	CCDS41631.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.679463|4.679463	0.88542|0.88542	.|.	.|.	ENSG00000060749|ENSG00000060749	ENST00000399302;ENST00000527788|ENST00000524678	T;T|.	0.46451|.	0.87;0.87|.	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.000000|.	0.42294|.	U|.	0.000734|.	T|T	0.70710|0.70710	0.3255|0.3255	L|L	0.51422|0.51422	1.61|1.61	0.52501|0.52501	D|D	0.999956|0.999956	D;D|.	0.67145|.	0.996;0.984|.	D;P|.	0.64144|.	0.922;0.8|.	T|T	0.66634|0.66634	-0.5874|-0.5874	10|5	0.52906|.	T|.	0.07|.	.|.	19.4448|19.4448	0.94843|0.94843	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1371;1610|.	Q2KHR3-2;Q2KHR3|.	.;QSER1_HUMAN|.	Q|C	1610;1371|630	ENSP00000382241:E1610Q;ENSP00000432766:E1371Q|.	ENSP00000382241:E1610Q|.	E|W	+|+	1|3	0|0	QSER1|QSER1	32951528|32951528	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.585000|8.585000	0.90802|0.90802	2.604000|2.604000	0.88044|0.88044	0.655000|0.655000	0.94253|0.94253	GAA|TGG		0.328	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774		18	44	0	0	0	1	0	18	44				
CPSF7	79869	broad.mit.edu	37	11	61178492	61178492	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr11:61178492G>A	ENST00000394888.4	-	9	1511	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	CPSF7_ENST00000439958.3_Missense_Mutation_p.R438W|CPSF7_ENST00000340437.4_Missense_Mutation_p.R490W|CPSF7_ENST00000448745.1_Missense_Mutation_p.R438W	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	447	Arg-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TCATCATGCCGATCTTCATTA	0.547																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(1468-1470)Cgg>Tgg		cleavage and polyadenylation specific factor 7, 59kDa							121.0	124.0	123.0					11																	61178492		2202	4299	6501	SO:0001583	missense	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61178492G>A		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.1339C>T	11.37:g.61178492G>A	ENSP00000378352:p.Arg447Trp					CPSF7_ENST00000448745.1_Missense_Mutation_p.R438W|CPSF7_ENST00000439958.3_Missense_Mutation_p.R438W|CPSF7_ENST00000394888.4_Missense_Mutation_p.R447W	p.R490W	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			9	1548	-			447					B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	Missense_Mutation	SNP	ENST00000394888.4	37	c.1468C>T	CCDS44619.1	.	.	.	.	.	.	.	.	.	.	G	33	5.237441	0.95240	.	.	ENSG00000149532	ENST00000340437;ENST00000394888;ENST00000439958;ENST00000448745;ENST00000544147;ENST00000477890	T;T;T;T;D	0.87966	2.37;2.37;2.37;2.37;-2.32	5.95	4.97	0.65823	.	0.063428	0.64402	D	0.000006	T	0.82208	0.4987	L	0.52573	1.65	0.80722	D	1	B;P;B	0.35944	0.072;0.529;0.119	B;B;B	0.31245	0.005;0.126;0.011	D	0.83602	0.0129	10	0.87932	D	0	-3.4049	11.8959	0.52656	0.0712:0.0:0.7957:0.1331	.	447;490;438	Q8N684;Q8N684-3;Q8N684-2	CPSF7_HUMAN;.;.	W	490;447;438;438;213;371	ENSP00000345412:R490W;ENSP00000378352:R447W;ENSP00000397203:R438W;ENSP00000407394:R438W;ENSP00000437860:R371W	ENSP00000345412:R490W	R	-	1	2	CPSF7	60935068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.561000	0.60809	2.824000	0.97209	0.655000	0.94253	CGG		0.547	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		12	81	0	0	0	1	0	12	81				
VARS	7407	broad.mit.edu	37	6	31748517	31748517	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:31748517G>C	ENST00000375663.3	-	24	3202	c.2762C>G	c.(2761-2763)gCt>gGt	p.A921G	Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	921					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AAACCGGAGAGCATCGGTGCC	0.602																																						ENST00000375663.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(2761-2763)gCt>gGt		valyl-tRNA synthetase	L-Valine(DB00161)						89.0	83.0	85.0					6																	31748517		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31748517G>C	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2762C>G	6.37:g.31748517G>C	ENSP00000364815:p.Ala921Gly					VARS_ENST00000482996.1_5'UTR	p.A921G	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			24	3202	-			921					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.2762C>G	CCDS34412.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.1|23.1	4.372662|4.372662	0.82573|0.82573	.|.	.|.	ENSG00000204394|ENSG00000204394	ENST00000375663|ENST00000428445	T|.	0.43294|.	0.95|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Rossmann-like alpha/beta/alpha sandwich fold (1);Aminoacyl-tRNA synthetase, class Ia (1);|.	0.052890|.	0.85682|.	D|.	0.000000|.	T|T	0.76335|0.76335	0.3973|0.3973	M|M	0.86953|0.86953	2.85|2.85	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.79122|0.79122	-0.1933|-0.1933	10|5	0.72032|.	D|.	0.01|.	-16.2721|-16.2721	16.0424|16.0424	0.80694|0.80694	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	921|.	P26640|.	SYVC_HUMAN|.	G|W	921|238	ENSP00000364815:A921G|.	ENSP00000364815:A921G|.	A|C	-|-	2|3	0|2	VARS|VARS	31856496|31856496	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	5.818000|5.818000	0.69236|0.69236	2.653000|2.653000	0.90120|0.90120	0.655000|0.655000	0.94253|0.94253	GCT|TGC		0.602	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		20	32	0	0	0	1	0	20	32				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	25	0	0	0	1	0	3	25				
SHANK1	50944	broad.mit.edu	37	19	51200916	51200916	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:51200916G>A	ENST00000293441.1	-	13	1885	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	SHANK1_ENST00000359082.3_Missense_Mutation_p.R623C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R623C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	623					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TTGTCACTGCGGCTTTCTGCA	0.542																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(1867-1869)Cgc>Tgc		SH3 and multiple ankyrin repeat domains 1							112.0	111.0	112.0					19																	51200916		2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51200916G>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.1867C>T	19.37:g.51200916G>A	ENSP00000293441:p.Arg623Cys					SHANK1_ENST00000391814.1_Missense_Mutation_p.R623C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R623C	p.R623C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	13	1885	-		all_neural(266;0.057)	623					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.1867C>T	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587108	0.46110	.	.	ENSG00000161681	ENST00000293441;ENST00000359082;ENST00000391814	T;T;T	0.50277	0.86;0.89;0.75	3.19	3.19	0.36642	Src homology-3 domain (1);	0.000000	0.64402	U	0.000011	T	0.60856	0.2301	L	0.52905	1.665	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.64812	-0.6319	10	0.87932	D	0	-24.8006	11.7413	0.51794	0.0:0.0:1.0:0.0	.	623	Q9Y566	SHAN1_HUMAN	C	623	ENSP00000293441:R623C;ENSP00000351984:R623C;ENSP00000375690:R623C	ENSP00000293441:R623C	R	-	1	0	SHANK1	55892728	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.316000	0.59178	1.793000	0.52555	0.556000	0.70494	CGC		0.542	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		5	65	0	0	0	1	0	5	65				
GRIN2A	2903	broad.mit.edu	37	16	10274172	10274172	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr16:10274172C>T	ENST00000396573.2	-	3	406	c.97G>A	c.(97-99)Gcg>Acg	p.A33T	GRIN2A_ENST00000330684.3_Missense_Mutation_p.A33T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A33T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	33					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ATATTTAGCGCGGGGGGACCC	0.692																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(97-99)Gcg>Acg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						26.0	31.0	29.0					16																	10274172		2193	4294	6487	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10274172C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.97G>A	16.37:g.10274172C>T	ENSP00000379818:p.Ala33Thr					GRIN2A_ENST00000396575.2_Missense_Mutation_p.A33T|GRIN2A_ENST00000562109.1_Missense_Mutation_p.A33T|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A33T|GRIN2A_ENST00000404927.2_Missense_Mutation_p.A33T	p.A33T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			3	406	-			33					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.97G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496329	0.64186	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000330684;ENST00000396575	T;T;T;T	0.11712	2.77;2.75;2.77;2.77	4.54	4.54	0.55810	.	0.258802	0.30528	N	0.009429	T	0.14485	0.0350	L	0.43152	1.355	0.80722	D	1	D;B;P	0.63046	0.992;0.086;0.688	P;B;B	0.49683	0.619;0.009;0.028	T	0.01930	-1.1245	9	.	.	.	.	11.881	0.52576	0.0:0.912:0.0:0.088	.	33;33;33	Q547U9;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	T	33	ENSP00000379818:A33T;ENSP00000385872:A33T;ENSP00000332549:A33T;ENSP00000379820:A33T	.	A	-	1	0	GRIN2A	10181673	0.977000	0.34250	1.000000	0.80357	0.984000	0.73092	1.351000	0.34022	2.088000	0.63022	0.561000	0.74099	GCG		0.692	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			12	36	0	0	0	1	0	12	36				
PAQR5	54852	broad.mit.edu	37	15	69696052	69696052	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:69696052T>C	ENST00000340965.3	+	9	1552	c.884T>C	c.(883-885)aTa>aCa	p.I295T	PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000558617.1_RNA|Y_RNA_ENST00000384665.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	295					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)|steroid binding (GO:0005496)			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						TTCTCTCAGATAGCTGGAGCC	0.473																																						ENST00000340965.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						c.(883-885)aTa>aCa		progestin and adipoQ receptor family member V							94.0	84.0	87.0					15																	69696052		2199	4298	6497	SO:0001583	missense	54852				cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding	g.chr15:69696052T>C		CCDS10232.1	15q22.31	2012-08-10			ENSG00000137819	ENSG00000137819			29645	protein-coding gene	gene with protein product	"""membrane progestin receptor gamma"""	607781				12574519	Standard	NM_001104554		Approved	FLJ20190, MPRG	uc002arz.2	Q9NXK6	OTTHUMG00000133322	ENST00000340965.3:c.884T>C	15.37:g.69696052T>C	ENSP00000343877:p.Ile295Thr					PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|RP11-253M7.1_ENST00000560539.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA	p.I295T	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN			9	1552	+			295					Q8IXU2	Missense_Mutation	SNP	ENST00000340965.3	37	c.884T>C	CCDS10232.1	.	.	.	.	.	.	.	.	.	.	T	0.074	-1.196665	0.01594	.	.	ENSG00000137819	ENST00000395407;ENST00000340965	T;T	0.20069	2.1;2.1	5.45	4.15	0.48705	.	0.269567	0.40469	N	0.001086	T	0.08223	0.0205	N	0.11724	0.165	0.37323	D	0.909652	B	0.02656	0.0	B	0.04013	0.001	T	0.21621	-1.0240	10	0.02654	T	1	-21.0706	5.607	0.17385	0.0:0.1487:0.0:0.8513	.	295	Q9NXK6	MPRG_HUMAN	T	295	ENSP00000378803:I295T;ENSP00000343877:I295T	ENSP00000343877:I295T	I	+	2	0	PAQR5	67483106	0.980000	0.34600	0.895000	0.35142	0.035000	0.12851	2.226000	0.42963	2.189000	0.69895	0.533000	0.62120	ATA		0.473	PAQR5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416671.1	NM_017705		3	65	0	0	0	1	0	3	65				
FAM179A	165186	broad.mit.edu	37	2	29240760	29240760	+	Missense_Mutation	SNP	G	G	A	rs555349514	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:29240760G>A	ENST00000379558.4	+	10	1649	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	433										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGGCCAGCCGGGCCTCCCTG	0.692													G|||	13	0.00259585	0.0	0.0	5008	,	,		16606	0.0		0.0	False		,,,				2504	0.0133					ENST00000379558.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1297-1299)cGg>cAg		family with sequence similarity 179, member A							19.0	23.0	22.0					2																	29240760		1964	4144	6108	SO:0001583	missense	165186						binding	g.chr2:29240760G>A	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.1298G>A	2.37:g.29240760G>A	ENSP00000368876:p.Arg433Gln					FAM179A_ENST00000403861.2_Intron|FAM179A_ENST00000465300.1_Intron	p.R433Q	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN			10	1649	+			433					Q6ZUF5	Missense_Mutation	SNP	ENST00000379558.4	37	c.1298G>A	CCDS1769.2	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249201	0.59103	.	.	ENSG00000189350	ENST00000379558	T	0.13420	2.59	4.26	4.26	0.50523	.	.	.	.	.	T	0.24198	0.0586	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	P	0.61275	0.886	T	0.01583	-1.1319	9	0.44086	T	0.13	.	16.808	0.85710	0.0:0.0:1.0:0.0	.	433	Q6ZUX3	F179A_HUMAN	Q	433	ENSP00000368876:R433Q	ENSP00000368876:R433Q	R	+	2	0	FAM179A	29094264	0.988000	0.35896	0.958000	0.39756	0.010000	0.07245	4.390000	0.59646	2.346000	0.79739	0.563000	0.77884	CGG		0.692	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317848.4	NM_199280		6	15	0	0	0	1	0	6	15				
VPS13B	157680	broad.mit.edu	37	8	100182325	100182325	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr8:100182325C>T	ENST00000358544.2	+	16	2378	c.2267C>T	c.(2266-2268)cCt>cTt	p.P756L	VPS13B_ENST00000395996.1_Missense_Mutation_p.P756L|VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	756					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTGCTTACCTGTACCAGTT	0.393																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2266-2268)cCt>cTt		vacuolar protein sorting 13 homolog B (yeast)							184.0	159.0	167.0					8																	100182325		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100182325C>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2267C>T	8.37:g.100182325C>T	ENSP00000351346:p.Pro756Leu					VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L	p.P756L			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		16	2378	+	Breast(36;3.73e-07)		756					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2267C>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.385691	0.42308	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.80123	-1.34;-0.56;-0.56;-0.33	5.47	5.47	0.80525	.	0.085531	0.50627	D	0.000108	T	0.65893	0.2735	N	0.19112	0.55	0.54753	D	0.999986	B;B;B;B;B	0.28419	0.112;0.211;0.012;0.01;0.01	B;B;B;B;B	0.22601	0.029;0.04;0.006;0.006;0.006	T	0.62388	-0.6865	10	0.12766	T	0.61	.	14.5231	0.67867	0.1466:0.8534:0.0:0.0	.	756;756;756;756;756	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	L	756	ENSP00000347281:P756L;ENSP00000349685:P756L;ENSP00000351346:P756L;ENSP00000379318:P756L	ENSP00000347281:P756L	P	+	2	0	VPS13B	100251501	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.326000	0.52037	2.722000	0.93159	0.557000	0.71058	CCT		0.393	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	45	0	0	0	1	0	8	45				
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						ENST00000420886.2																			2	Substitution - Missense(2)	p.A1371V(2)	lung(1)|prostate(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4114-4116)gCg>gTg		strawberry notch homolog 1 (Drosophila)							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4114	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		4	134	0	0	0	1	0	4	134				
GBP7	388646	broad.mit.edu	37	1	89618421	89618421	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:89618421C>A	ENST00000294671.2	-	4	496	c.358G>T	c.(358-360)Gtg>Ttg	p.V120L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	120	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTTAGAAGCACAGCCAGGGCA	0.468																																						ENST00000294671.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(358-360)Gtg>Ttg		guanylate binding protein 7							94.0	90.0	91.0					1																	89618421		2203	4300	6503	SO:0001583	missense	388646					integral to membrane	GTP binding|GTPase activity	g.chr1:89618421C>A	AK096141	CCDS720.1	1p22.2	2008-02-05			ENSG00000213512	ENSG00000213512			29606	protein-coding gene	gene with protein product		612468					Standard	NM_207398		Approved	FLJ38822, GBP4L	uc001dna.2	Q8N8V2	OTTHUMG00000010659	ENST00000294671.2:c.358G>T	1.37:g.89618421C>A	ENSP00000294671:p.Val120Leu						p.V120L	NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN		all cancers(265;0.00835)|Epithelial(280;0.0322)	4	496	-		Lung NSC(277;0.0908)	120						Missense_Mutation	SNP	ENST00000294671.2	37	c.358G>T	CCDS720.1	.	.	.	.	.	.	.	.	.	.	C	7.612	0.675068	0.14841	.	.	ENSG00000213512	ENST00000294671	T	0.75367	-0.93	3.69	-0.774	0.10991	Guanylate-binding protein, N-terminal (1);	0.149719	0.42548	D	0.000700	T	0.53384	0.1793	M	0.67700	2.07	0.09310	N	0.99999	P	0.39862	0.692	B	0.41813	0.367	T	0.53085	-0.8488	10	0.48119	T	0.1	.	6.8009	0.23750	0.0:0.3556:0.0:0.6444	.	120	Q8N8V2	GBP7_HUMAN	L	120	ENSP00000294671:V120L	ENSP00000294671:V120L	V	-	1	0	GBP7	89391009	0.146000	0.22672	0.288000	0.24862	0.201000	0.24016	0.459000	0.21908	-0.015000	0.14150	0.205000	0.17691	GTG		0.468	GBP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029401.1	NM_207398		14	29	1	0	4.93089e-13	1	5.32536e-13	14	29				
SALL1	6299	broad.mit.edu	37	16	51174728	51174728	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr16:51174728G>A	ENST00000251020.4	-	2	1438	c.1405C>T	c.(1405-1407)Cgt>Tgt	p.R469C	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.R372C	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	469					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R469C(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GTATGGGAACGCAAGTGGATC	0.507																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			1	Substitution - Missense(1)	p.R469C(1)	large_intestine(1)	NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126	GRCh37	HI971487	SALL1	I		c.(1114-1116)Cgt>Tgt		spalt-like transcription factor 1							99.0	93.0	95.0					16																	51174728		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51174728G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.1405C>T	16.37:g.51174728G>A	ENSP00000251020:p.Arg469Cys					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.R469C	p.R372C	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	1545	-		all_cancers(37;0.0322)	469			Poly-Ser.		Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.1114C>T	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831141	0.71258	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.25749	1.78;1.78	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.56963	0.2021	M	0.83852	2.665	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63967	-0.6517	10	0.87932	D	0	.	18.685	0.91560	0.0:0.0:1.0:0.0	.	469	Q9NSC2	SALL1_HUMAN	C	469;372;433	ENSP00000251020:R469C;ENSP00000407914:R372C	ENSP00000251020:R469C	R	-	1	0	SALL1	49732229	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.864000	0.99589	2.386000	0.81285	0.563000	0.77884	CGT		0.507	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	48	0	0	0	1	0	16	48				
RYR3	6263	broad.mit.edu	37	15	33895402	33895402	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:33895402C>A	ENST00000389232.4	+	18	2071	c.2001C>A	c.(1999-2001)gaC>gaA	p.D667E	RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	667	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGATTATCGACCAGGTGGACC	0.567																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(1999-2001)gaC>gaA		ryanodine receptor 3							139.0	145.0	143.0					15																	33895402		2006	4163	6169	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33895402C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2001C>A	15.37:g.33895402C>A	ENSP00000373884:p.Asp667Glu					RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	p.D667E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	18	2071	+		all_lung(180;7.18e-09)	667			B30.2/SPRY 1.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.2001C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568984	0.65765	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.69040	-0.37;-0.37	5.42	3.41	0.39046	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.70954	0.3283	L	0.47716	1.5	0.46044	D	0.998835	D;D	0.89917	0.996;1.0	D;D	0.87578	0.99;0.998	T	0.67039	-0.5771	10	0.27082	T	0.32	.	7.1765	0.25747	0.0:0.7269:0.0:0.2731	.	667;667	Q15413-2;Q15413	.;RYR3_HUMAN	E	667	ENSP00000373884:D667E;ENSP00000399610:D667E	ENSP00000354735:D667E	D	+	3	2	RYR3	31682694	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.331000	0.33793	1.526000	0.49068	0.644000	0.83932	GAC		0.567	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			37	91	1	0	3.33393e-15	1	3.67413e-15	37	91				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	84	0	0	0	1	0	5	84				
USP22	23326	broad.mit.edu	37	17	20922442	20922442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:20922442T>A	ENST00000261497.4	-	4	678	c.475A>T	c.(475-477)Aag>Tag	p.K159*	USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	159					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|embryo development (GO:0009790)|histone deubiquitination (GO:0016578)|histone H4 acetylation (GO:0043967)|histone ubiquitination (GO:0016574)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|protein deubiquitination (GO:0016579)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	SAGA complex (GO:0000124)	enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|transcription coactivator activity (GO:0003713)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						GGGTTGTGCTTCAGCAGTTCA	0.478																																						ENST00000261497.4																			0				endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						c.(475-477)Aag>Tag		ubiquitin specific peptidase 22							268.0	261.0	263.0					17																	20922442		1941	4152	6093	SO:0001587	stop_gained	23326				cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr17:20922442T>A	AB028986	CCDS42285.1	17p11.2	2006-11-24	2005-08-08		ENSG00000124422	ENSG00000124422		"""Ubiquitin-specific peptidases"""	12621	protein-coding gene	gene with protein product		612116	"""ubiquitin specific protease 22"", ""ubiquitin specific peptidase 3-like"""	USP3L		12838346	Standard	NM_015276		Approved	KIAA1063	uc002gym.4	Q9UPT9	OTTHUMG00000133621	ENST00000261497.4:c.475A>T	17.37:g.20922442T>A	ENSP00000261497:p.Lys159*					USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*|USP22_ENST00000455117.2_Intron	p.K159*	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN			4	678	-			159					A0JNS3|Q2NLE2|Q6MZY4|Q8TBS8|Q96IW5	Nonsense_Mutation	SNP	ENST00000261497.4	37	c.475A>T	CCDS42285.1	.	.	.	.	.	.	.	.	.	.	t	36	5.650217	0.96714	.	.	ENSG00000124422	ENST00000455117;ENST00000537526;ENST00000261497	.	.	.	4.42	2.09	0.27110	.	0.074613	0.53938	D	0.000055	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	11.3279	0.49458	0.0:0.0:0.6469:0.3531	.	.	.	.	X	227;147;159	.	ENSP00000261497:K159X	K	-	1	0	USP22	20863034	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	5.137000	0.64789	0.549000	0.28973	0.455000	0.32223	AAG		0.478	USP22-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444169.1			51	78	0	0	0	1	0	51	78				
DNAH17	8632	broad.mit.edu	37	17	76455960	76455960	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:76455960C>T	ENST00000585328.1	-	60	9668	c.9544G>A	c.(9544-9546)Gcc>Acc	p.A3182T	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.A3173T	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	3173	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATGATCTTGGCCGCCTTCCAG	0.592																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(9517-9519)Gcc>Acc		dynein, axonemal, heavy chain 17							132.0	98.0	109.0					17																	76455960		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76455960C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9544G>A	17.37:g.76455960C>T	ENSP00000465516:p.Ala3182Thr					DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3182T	p.A3173T					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		60	9641	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.9517G>A		.	.	.	.	.	.	.	.	.	.	C	19.42	3.824649	0.71143	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.80214	-1.35	4.89	4.89	0.63831	.	0.111371	0.39759	N	0.001267	D	0.89577	0.6755	M	0.94063	3.49	0.32466	N	0.543507	P	0.43392	0.805	P	0.49477	0.612	D	0.93724	0.7035	10	0.66056	D	0.02	.	17.6619	0.88195	0.0:1.0:0.0:0.0	.	3182	E7EUM8	.	T	3182;3173	ENSP00000374490:A3173T	ENSP00000300671:A3182T	A	-	1	0	DNAH17	73967555	0.996000	0.38824	0.088000	0.20740	0.917000	0.54804	3.429000	0.52800	2.243000	0.73865	0.511000	0.50034	GCC		0.592	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	44	0	0	0	1	0	3	44				
DST	667	broad.mit.edu	37	6	56362658	56362658	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:56362658C>T	ENST00000361203.3	-	76	19137	c.19130G>A	c.(19129-19131)cGc>cAc	p.R6377H	DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000370754.5_Missense_Mutation_p.R6666H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	6377					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTCACCTGGCGCAAGGCACC	0.373																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(19996-19998)cGc>cAc		dystonin							53.0	51.0	51.0					6																	56362658		1854	4101	5955	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56362658C>T	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19130G>A	6.37:g.56362658C>T	ENSP00000354508:p.Arg6377His					DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H	p.R6666H			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		81	19996	-	Lung NSC(77;0.103)		6486					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.19997G>A		.	.	.	.	.	.	.	.	.	.	C	12.75	2.030278	0.35797	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.63580	1.07;-0.03;-0.02;0.05;0.92;-0.01;-0.05	5.8	1.44	0.22558	.	0.548872	0.16671	N	0.204348	T	0.44953	0.1318	L	0.29908	0.895	0.28551	N	0.911612	D;B;B;B;B	0.65815	0.995;0.048;0.023;0.002;0.051	P;B;B;B;B	0.61201	0.885;0.035;0.009;0.003;0.013	T	0.40384	-0.9566	9	0.49607	T	0.09	.	3.8828	0.09085	0.33:0.3812:0.0:0.2887	.	4400;6488;6666;6486;4074	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	4074;6666;6488;4400;6162;4291;6377	ENSP00000244364:R4074H;ENSP00000359790:R6666H;ENSP00000359805:R6488H;ENSP00000400883:R4400H;ENSP00000393645:R6162H;ENSP00000359824:R4291H;ENSP00000354508:R6377H	ENSP00000244364:R4074H	R	-	2	0	DST	56470617	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.368000	0.59505	0.745000	0.32763	0.591000	0.81541	CGC		0.373	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	15	0	0	0	1	0	5	15				
RP11-93K22.13	0	broad.mit.edu	37	3	129811967	129811967	+	lincRNA	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr3:129811967G>A	ENST00000514010.1	-	0	157				ALG1L2_ENST00000507643.1_RNA																							GACTCTTGACGGACAGAACCT	0.413																																						ENST00000514010.1																			0																				73.0	58.0	62.0					3																	129811967		692	1591	2283			0							g.chr3:129811967G>A																													3.37:g.129811967G>A						ALG1L2_ENST00000507643.1_RNA								0	157	-									RNA	SNP	ENST00000514010.1	37																																																																																						0.413	RP11-93K22.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358040.1			6	53	0	0	0	1	0	6	53				
RENBP	5973	broad.mit.edu	37	X	153208481	153208481	+	Silent	SNP	G	G	A	rs373960327		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chrX:153208481G>A	ENST00000393700.3	-	6	593	c.513C>T	c.(511-513)gaC>gaT	p.D171D	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Silent_p.D157D|RENBP_ENST00000412763.1_Silent_p.D171D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	171					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	GTCCCGACGCGTCCTCCTGCA	0.687																																						ENST00000393700.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(511-513)gaC>gaT		renin binding protein	N-Acetyl-D-glucosamine(DB00141)	G		0,3827		0,0,1631,565	22.0	19.0	20.0		513	3.0	1.0	X		20	1,6716		0,1,2425,1865	no	coding-synonymous	RENBP	NM_002910.5		0,1,4056,2430	AA,AG,GG,G		0.0149,0.0,0.0095		171/428	153208481	1,10543	2196	4291	6487	SO:0001819	synonymous_variant	5973				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity	g.chrX:153208481G>A		CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.513C>T	X.37:g.153208481G>A						RENBP_ENST00000369997.3_Silent_p.D157D|RENBP_ENST00000412763.1_Silent_p.D171D|RENBP_ENST00000462086.1_5'UTR	p.D171D	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN			6	593	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		171					B4DNZ3|Q96BI6	Silent	SNP	ENST00000393700.3	37	c.513C>T	CCDS14738.2																																																																																				0.687	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		11	1	0	0	0	1	0	11	1				
HEATR1	55127	broad.mit.edu	37	1	236744591	236744591	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:236744591C>T	ENST00000366582.3	-	20	2800	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	896					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCACAGCCCACATAAAGAGCT	0.398																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(2686-2688)Gtg>Atg		HEAT repeat containing 1							168.0	161.0	164.0					1																	236744591		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236744591C>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2686G>A	1.37:g.236744591C>T	ENSP00000355541:p.Val896Met					HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	p.V896M	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		20	2800	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	896					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.2686G>A	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269861	0.40095	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;3.61	5.2	-4.38	0.03622	Armadillo-type fold (1);	0.720515	0.14368	N	0.323997	T	0.51517	0.1679	L	0.29908	0.895	0.09310	N	0.999996	B;B	0.10296	0.003;0.003	B;B	0.10450	0.004;0.005	T	0.38373	-0.9664	10	0.72032	D	0.01	.	14.5327	0.67936	0.0:0.1577:0.0:0.8423	.	896;896	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	M	896	ENSP00000355541:V896M;ENSP00000355540:V896M	ENSP00000355540:V896M	V	-	1	0	HEATR1	234811214	0.006000	0.16342	0.000000	0.03702	0.483000	0.33249	-0.088000	0.11198	-0.941000	0.03700	0.655000	0.94253	GTG		0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8	104	0	0	0	1	0	8	104				
GABRR2	2570	broad.mit.edu	37	6	90024832	90024832	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:90024832A>C	ENST00000402938.3	-	1	186	c.53T>G	c.(52-54)gTg>gGg	p.V18G	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	18					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	TCTGCTCTCCACGAGAACCAT	0.478																																						ENST00000402938.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(52-54)gTg>gGg		gamma-aminobutyric acid (GABA) A receptor, rho 2							235.0	236.0	236.0					6																	90024832		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:90024832A>C		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.53T>G	6.37:g.90024832A>C	ENSP00000386029:p.Val18Gly					GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	p.V18G			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	1	186	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	43					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.53T>G	CCDS5020.3	.	.	.	.	.	.	.	.	.	.	A	9.498	1.102581	0.20632	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.52	1.61	0.23674	.	0.167881	0.38164	N	0.001781	T	0.14056	0.0340	N	0.24115	0.695	0.53688	D	0.999974	B	0.02656	0.0	B	0.01281	0.0	T	0.06826	-1.0805	8	.	.	.	.	4.9728	0.14125	0.625:0.1462:0.2289:0.0	.	43	P28476	GBRR2_HUMAN	G	43	.	.	V	-	2	0	GABRR2	90081551	1.000000	0.71417	0.998000	0.56505	0.940000	0.58332	1.422000	0.34826	0.384000	0.24942	-0.290000	0.09829	GTG		0.478	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			5	159	0	0	0	1	0	5	159				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	30	0	0	0	1	0	3	30				
SLC1A6	6511	broad.mit.edu	37	19	15072861	15072861	+	Silent	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:15072861G>A	ENST00000221742.3	-	5	895	c.888C>T	c.(886-888)ttC>ttT	p.F296F	SLC1A6_ENST00000600144.1_Silent_p.F296F|SLC1A6_ENST00000544886.2_Silent_p.F296F|SLC1A6_ENST00000598504.1_Silent_p.F296F|SLC1A6_ENST00000430939.2_Silent_p.F232F	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	296					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						TGAGGCTGTCGAAGAAGTCCC	0.572																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(886-888)ttC>ttT		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						92.0	87.0	89.0					19																	15072861		2203	4300	6503	SO:0001819	synonymous_variant	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15072861G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.888C>T	19.37:g.15072861G>A						SLC1A6_ENST00000221742.3_Silent_p.F296F|SLC1A6_ENST00000544886.2_Silent_p.F296F|SLC1A6_ENST00000430939.2_Silent_p.F232F|SLC1A6_ENST00000600144.1_Silent_p.F296F	p.F296F	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2247	-			296					Q8N753	Silent	SNP	ENST00000221742.3	37	c.888C>T	CCDS12321.1																																																																																				0.572	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		8	62	0	0	0	1	0	8	62				
TBP	6908	broad.mit.edu	37	6	170871082	170871082	+	Silent	SNP	G	G	A	rs548097837	byFrequency	TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:170871082G>A	ENST00000392092.2	+	3	537	c.258G>A	c.(256-258)caG>caA	p.Q86Q	TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	86	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.Q86Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.612													G|||	15	0.00299521	0.0023	0.0014	5008	,	,		13520	0.0		0.004	False		,,,				2504	0.0072					ENST00000392092.2																			2	Substitution - coding silent(2)	p.Q86Q(2)	lung(1)|central_nervous_system(1)	breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(256-258)caG>caA		TATA box binding protein							14.0	20.0	18.0					6																	170871082		1927	3773	5700	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871082G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.258G>A	6.37:g.170871082G>A						TBP_ENST00000230354.6_Silent_p.Q86Q|TBP_ENST00000540980.1_Silent_p.Q66Q	p.Q86Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	537	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	86			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.258G>A	CCDS5315.1																																																																																				0.612	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		3	29	0	0	0	1	0	3	29				
GALNT12	79695	broad.mit.edu	37	9	101611319	101611319	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr9:101611319G>A	ENST00000375011.3	+	10	1691	c.1691G>A	c.(1690-1692)cGa>cAa	p.R564Q	GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	polypeptide N-acetylgalactosaminyltransferase 12	564	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCACTCTTACGAGACTGCACC	0.473											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375011.3																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1690-1692)cGa>cAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)							122.0	110.0	114.0					9																	101611319		2203	4300	6503	SO:0001583	missense	79695					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr9:101611319G>A	AB078146	CCDS6737.1	9q22.33	2014-03-13	2014-03-13		ENSG00000119514	ENSG00000119514	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19877	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 12"""	610290	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)"""			12135769	Standard	NM_024642		Approved	GalNAc-T12	uc004ayz.3	Q8IXK2	OTTHUMG00000020348	ENST00000375011.3:c.1691G>A	9.37:g.101611319G>A	ENSP00000364150:p.Arg564Gln		OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1360	GALNT12_ENST00000470473.1_3'UTR|RP11-92C4.3_ENST00000433997.1_RNA|RP11-92C4.3_ENST00000589257.1_RNA	p.R564Q	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN			10	1691	+		Acute lymphoblastic leukemia(62;0.0559)	564			Ricin B-type lectin.		Q5TCF7|Q8NG54|Q96CT9|Q9H771	Missense_Mutation	SNP	ENST00000375011.3	37	c.1691G>A	CCDS6737.1	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355887	0.41700	.	.	ENSG00000119514	ENST00000375011	T	0.28069	1.63	5.75	4.86	0.63082	Ricin B-related lectin (1);Ricin B lectin (3);	0.072344	0.64402	D	0.000015	T	0.28400	0.0702	M	0.76170	2.325	0.34408	D	0.696099	P	0.38863	0.65	B	0.30716	0.119	T	0.43893	-0.9363	10	0.20046	T	0.44	.	10.7171	0.46019	0.0872:0.0:0.9128:0.0	.	564	Q8IXK2	GLT12_HUMAN	Q	564	ENSP00000364150:R564Q	ENSP00000364150:R564Q	R	+	2	0	GALNT12	100651140	1.000000	0.71417	0.780000	0.31762	0.525000	0.34531	5.447000	0.66606	1.445000	0.47624	-0.136000	0.14681	CGA		0.473	GALNT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053382.1	NM_024642		24	26	0	0	0	1	0	24	26				
CPS1	1373	broad.mit.edu	37	2	211542610	211542610	+	Splice_Site	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr2:211542610G>A	ENST00000233072.5	+	38	4600		c.e38-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	TATATTTTCAGGTGACCAAAC	0.413																																						ENST00000233072.5																			0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.e38-1		carbamoyl-phosphate synthase 1, mitochondrial							211.0	222.0	218.0					2																	211542610		2203	4300	6503	SO:0001630	splice_region_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211542610G>A	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.4405-1G>A	2.37:g.211542610G>A						CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_Splice_Site		NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	38	4600	+								B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	Splice_Site	SNP	ENST00000233072.5	37		CCDS2393.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210657	0.79240	.	.	ENSG00000021826	ENST00000430249;ENST00000539150;ENST00000233072;ENST00000451903	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2565	0.93948	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CPS1	211250855	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.817000	0.91985	2.546000	0.85860	0.561000	0.74099	.		0.413	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5		Intron	4	160	0	0	0	1	0	4	160				
L3MBTL1	26013	broad.mit.edu	37	20	42168798	42168798	+	Silent	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr20:42168798G>A	ENST00000427442.2	+	20	2274	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	L3MBTL1_ENST00000444063.1_Silent_p.T637T|L3MBTL1_ENST00000373135.3_Silent_p.T637T|L3MBTL1_ENST00000418998.1_Silent_p.T705T|L3MBTL1_ENST00000373134.1_Silent_p.T642T			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	637	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of cell cycle (GO:0051726)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of mitosis (GO:0007088)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|nucleosome binding (GO:0031491)|SAM domain binding (GO:0032093)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						CAGCCCTCACGCCCGATGTCG	0.617																																						ENST00000444063.1																			0				breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						c.(1909-1911)acG>acA		l(3)mbt-like 1 (Drosophila)							84.0	60.0	68.0					20																	42168798		2203	4300	6503	SO:0001819	synonymous_variant	26013				chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:42168798G>A	U89358	CCDS13319.1, CCDS46602.1, CCDS46602.2	20q13.12	2013-01-10	2010-09-03	2010-09-03	ENSG00000185513	ENSG00000185513		"""Zinc fingers, C2HC-type containing"", ""Sterile alpha motif (SAM) domain containing"""	15905	protein-coding gene	gene with protein product	"""lethal (3) malignant brain tumor l(3)"""	608802	"""l(3)mbt (Drosophila)-like"", ""l(3)mbt-like (Drosophila)"""	L3MBTL		10445843, 17540172	Standard	NM_032107		Approved	ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681	uc010zwh.2	Q9Y468	OTTHUMG00000032503	ENST00000427442.2:c.2115G>A	20.37:g.42168798G>A						L3MBTL1_ENST00000373134.1_Silent_p.T642T|L3MBTL1_ENST00000373135.3_Silent_p.T637T|L3MBTL1_ENST00000418998.1_Silent_p.T705T|L3MBTL1_ENST00000427442.2_Silent_p.T705T	p.T637T			Q9Y468	LMBL1_HUMAN			17	2043	+			637					B4DRC9|E1P5W7|Q5H8Y8|Q5H8Y9|Q8IUV7|Q9H1E6|Q9H1G5|Q9UG06|Q9UJB9|Q9Y4C9	Silent	SNP	ENST00000427442.2	37	c.1911G>A	CCDS46602.2																																																																																				0.617	L3MBTL1-007	KNOWN	upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079300.3	NM_032107		15	18	0	0	0	1	0	15	18				
MYCBP2	23077	broad.mit.edu	37	13	77738587	77738587	+	Splice_Site	SNP	A	A	G			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr13:77738587A>G	ENST00000544440.2	-	43	6451		c.e43+1		MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000407578.2_Splice_Site					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGCCACACTTACCAATAGGAA	0.368																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.e43+1		MYC binding protein 2, E3 ubiquitin protein ligase							80.0	74.0	76.0					13																	77738587		2203	4300	6503	SO:0001630	splice_region_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77738587A>G	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6433+1T>C	13.37:g.77738587A>G						MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site		NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	43	6814	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)							Splice_Site	SNP	ENST00000544440.2	37			.	.	.	.	.	.	.	.	.	.	A	24.2	4.506282	0.85282	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6851	0.69044	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYCBP2	76636588	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.892000	0.87324	2.260000	0.74910	0.528000	0.53228	.		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	Intron	3	31	0	0	0	1	0	3	31				
SESN2	83667	broad.mit.edu	37	1	28601484	28601484	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr1:28601484G>A	ENST00000253063.3	+	8	1490	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	390					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTGCTCCGCAGGGCCATC	0.547																																						ENST00000253063.3																			0				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1168-1170)cGc>cAc		sestrin 2							112.0	83.0	93.0					1																	28601484		2203	4300	6503	SO:0001583	missense	83667				cell cycle arrest	cytoplasm|nucleus		g.chr1:28601484G>A	AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.1169G>A	1.37:g.28601484G>A	ENSP00000253063:p.Arg390His						p.R390H	NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)	8	1490	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	390					Q5T7D0|Q96SI5	Missense_Mutation	SNP	ENST00000253063.3	37	c.1169G>A	CCDS321.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176681	0.94846	.	.	ENSG00000130766	ENST00000253063	T	0.52295	0.67	5.04	5.04	0.67666	.	0.055517	0.64402	D	0.000005	T	0.73598	0.3607	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79191	-0.1905	10	0.87932	D	0	-30.9036	17.5322	0.87818	0.0:0.0:1.0:0.0	.	390	P58004	SESN2_HUMAN	H	390	ENSP00000253063:R390H	ENSP00000253063:R390H	R	+	2	0	SESN2	28474071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.351000	0.66022	2.488000	0.83962	0.655000	0.94253	CGC		0.547	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009840.1			18	18	0	0	0	1	0	18	18				
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																						ENST00000244496.5																			2	Deletion - In frame(2)	p.A8_G9delAG(2)	prostate(1)|central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						c.(22-27)del		ribosomal RNA processing 36 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	88745				ribosomal small subunit biogenesis|rRNA processing	nucleolus		g.chr6:42989414_42989419delGCCGGG	BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del						p.AG14del	NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN			1	32_37	+			14					Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	c.22_27delGCCGGG	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1	NM_033112		3	4						3	4	---	---	---	---
PCOLCE	5118	broad.mit.edu	37	7	100205618	100205618	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr7:100205618delA	ENST00000223061.5	+	9	1522	c.1242delA	c.(1240-1242)ccafs	p.P414fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	414	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCCTTCCTCCAGAGAGCTTTG	0.567																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1240-1242)ccfs		procollagen C-endopeptidase enhancer							76.0	78.0	77.0					7																	100205618		2203	4300	6503	SO:0001589	frameshift_variant	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205618delA	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1242delA	7.37:g.100205618delA	ENSP00000223061:p.Pro414fs						p.P414fs	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			9	1522	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		414			NTR.		B2R9E1|O14550	Frame_Shift_Del	DEL	ENST00000223061.5	37	c.1242delA	CCDS5700.1																																																																																				0.567	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		30	49						30	49	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	63942117	63942117	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr15:63942117delT	ENST00000443617.2	-	54	10641	c.10554delA	c.(10552-10554)aaafs	p.K3518fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3518					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTACTAATCCTTTTCCTCCTA	0.388																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(10552-10554)aafs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							42.0	38.0	39.0					15																	63942117		1829	4078	5907	SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63942117delT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10554delA	15.37:g.63942117delT	ENSP00000390158:p.Lys3518fs						p.K3518fs	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			54	10641	-			3518					Q8IW65	Frame_Shift_Del	DEL	ENST00000443617.2	37	c.10554delA	CCDS45277.1																																																																																				0.388	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		2	4						2	4	---	---	---	---
LSR	51599	broad.mit.edu	37	19	35739951	35739951	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A76X-01A-11D-A33T-08	TCGA-HC-A76X-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d9192ed-c94c-472c-b614-fc31cc044d3b	f337b49f-54b4-4a3f-9b2e-075249ea8f13	g.chr19:35739951delC	ENST00000361790.3	+	1	329	c.170delC	c.(169-171)tccfs	p.S57fs	LSR_ENST00000427250.1_Frame_Shift_Del_p.S9fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.S57fs|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000602122.1_Frame_Shift_Del_p.S57fs|LSR_ENST00000597933.1_Intron|LSR_ENST00000360798.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000347609.4_Intron	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	57					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCGGGCTCTCCAGAGGGCTG	0.736																																						ENST00000602122.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(169-171)tcfs		lipolysis stimulated lipoprotein receptor							6.0	8.0	7.0					19																	35739951		2119	4116	6235	SO:0001589	frameshift_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35739951delC	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.170delC	19.37:g.35739951delC	ENSP00000354575:p.Ser57fs					LSR_ENST00000361790.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000360798.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000354900.3_Frame_Shift_Del_p.S57fs|LSR_ENST00000347609.4_Intron|LSR_ENST00000597933.1_Intron|LSR_ENST00000427250.1_Frame_Shift_Del_p.S9fs	p.S57fs			Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		1	657	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		57					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Frame_Shift_Del	DEL	ENST00000361790.3	37	c.170delC	CCDS12450.1																																																																																				0.736	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		2	4						2	4	---	---	---	---
