#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
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		Somatic				GRIK3_ENST00000373093.4_Missense_Mutation_p.W643L	p.W643L	NM_000831.3	NP_000822.2	WXS	Illumina GAIIx	Phase_I	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	3	48	---	---	---	---
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		Somatic					p.V120L	NM_207398.2	NP_997281.2	WXS	Illumina GAIIx	Phase_I	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	14	29	---	---	---	---
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_ENST00000359172.3_Missense_Mutation_p.A140D|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000475081.1_3'UTR	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		Somatic				AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000393614.4_Missense_Mutation_p.A140D|AHCYL1_ENST00000359172.3_Missense_Mutation_p.A140D	p.A187D	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	WXS	Illumina GAIIx	Phase_I	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	3	28	---	---	---	---
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		Somatic				TTC13_ENST00000414259.1_Missense_Mutation_p.M500I|TTC13_ENST00000366662.4_Missense_Mutation_p.M500I	p.M553I	NM_024525.4	NP_078801.3	WXS	Illumina GAIIx	Phase_I	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	34	47	---	---	---	---
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		Somatic				HEATR1_ENST00000366581.2_Missense_Mutation_p.V896M	p.V896M	NM_018072.5	NP_060542.4	WXS	Illumina GAIIx	Phase_I	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	8	104	---	---	---	---
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_ENST00000430249.2_Splice_Site|CPS1_ENST00000451903.2_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			Somatic				CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site		NM_001875.4	NP_001866.2	WXS	Illumina GAIIx	Phase_I	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	4	160	---	---	---	---
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_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000418020.1_5'UTR|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T	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		Somatic				WDR48_ENST00000396258.3_Missense_Mutation_p.K312T|WDR48_ENST00000544962.1_Missense_Mutation_p.K119T|WDR48_ENST00000418020.1_5'UTR	p.K394T	NM_020839.2	NP_065890.1	WXS	Illumina GAIIx	Phase_I	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	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		Somatic				BDP1_ENST00000380675.2_3'UTR	p.A2479S	NM_018429.2	NP_060899.2	WXS	Illumina GAIIx	Phase_I	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	3	39	---	---	---	---
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	VARS_ENST00000482996.1_5'UTR|Y_RNA_ENST00000364685.1_RNA	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		Somatic				VARS_ENST00000482996.1_5'UTR	p.A921G	NM_006295.2	NP_006286.1	WXS	Illumina GAIIx	Phase_I	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	20	32	---	---	---	---
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_ENST00000372958.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_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		Somatic				GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120H|GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120H|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120H	p.R120H			WXS	Illumina GAIIx	Phase_I	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	63	106	---	---	---	---
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_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000340834.4_5'UTR|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370754.5_Missense_Mutation_p.R6666H			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		Somatic				DST_ENST00000244364.6_Missense_Mutation_p.R4074H|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.R6488H|DST_ENST00000370788.2_Missense_Mutation_p.R4291H|DST_ENST00000446842.2_Missense_Mutation_p.R6162H|DST_ENST00000361203.3_Missense_Mutation_p.R6377H|DST_ENST00000421834.2_Missense_Mutation_p.R4400H	p.R6666H			WXS	Illumina GAIIx	Phase_I	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	5	15	---	---	---	---
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_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	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		Somatic				GABRR2_ENST00000602399.1_Missense_Mutation_p.V43G|GABRR2_ENST00000602808.1_5'UTR	p.V18G	NM_002043.3	NP_002034.3	WXS	Illumina GAIIx	Phase_I	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	5	159	---	---	---	---
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_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000395996.1_Missense_Mutation_p.P756L	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		Somatic				VPS13B_ENST00000355155.1_Missense_Mutation_p.P756L|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.P756L|VPS13B_ENST00000358544.2_Missense_Mutation_p.P756L	p.P756L			WXS	Illumina GAIIx	Phase_I	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	8	45	---	---	---	---
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		Somatic				QSER1_ENST00000527788.1_Missense_Mutation_p.E1371Q	p.E1610Q	NM_001076786.1	NP_001070254.1	WXS	Illumina GAIIx	Phase_I	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	18	44	---	---	---	---
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_ENST00000407578.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site|MYCBP2_ENST00000357337.6_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			Somatic				MYCBP2_ENST00000357337.6_Splice_Site|MYCBP2_ENST00000544440.2_Splice_Site|MYCBP2_ENST00000360084.5_Splice_Site		NM_015057.4	NP_055872.4	WXS	Illumina GAIIx	Phase_I	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	3	31	---	---	---	---
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_ENST00000252458.6_Silent_p.L269L|CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000360383.3_Silent_p.L363L|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			Somatic				CDC16_ENST00000375312.3_Silent_p.L269L|CDC16_ENST00000252457.5_Silent_p.L362L|CDC16_ENST00000375310.1_Silent_p.L269L|CDC16_ENST00000375308.1_Silent_p.L269L|CDC16_ENST00000356221.3_Silent_p.L363L|CDC16_ENST00000252458.6_Silent_p.L269L	p.L363L	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	WXS	Illumina GAIIx	Phase_I	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	19	18	---	---	---	---
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		Somatic				RYR3_ENST00000415757.3_Missense_Mutation_p.D667E	p.D667E	NM_001036.3	NP_001027.3	WXS	Illumina GAIIx	Phase_I	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	37	91	---	---	---	---
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	RP11-253M7.1_ENST00000558107.1_RNA|RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T|Y_RNA_ENST00000384665.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T	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		Somatic				RP11-253M7.1_ENST00000558617.1_RNA|RP11-253M7.1_ENST00000560539.1_RNA|PAQR5_ENST00000395407.2_Missense_Mutation_p.I295T|PAQR5_ENST00000561153.1_Missense_Mutation_p.I295T	p.I295T	NM_001104554.1	NP_001098024.1	WXS	Illumina GAIIx	Phase_I	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	3	65	---	---	---	---
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_ENST00000537526.2_Nonsense_Mutation_p.K147*|USP22_ENST00000455117.2_Intron	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*		Somatic				USP22_ENST00000455117.2_Intron|USP22_ENST00000537526.2_Nonsense_Mutation_p.K147*	p.K159*	NM_015276.1	NP_056091.1	WXS	Illumina GAIIx	Phase_I	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	51	78	---	---	---	---
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)ccafs		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		Somatic					p.P414fs	NM_002593.3	NP_002584.2	WXS	Illumina GAIIx	Phase_I	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	---	---	---	---
