#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_ACHILLES_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
CLSPN	63967	broad.mit.edu	37	1	36212562	36212562	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:36212562A>G	ENST00000318121.3	-	15	2716	c.2659T>C	c.(2659-2661)Tac>Cac	p.Y887H	CLSPN_ENST00000520551.1_Missense_Mutation_p.Y834H|CLSPN_ENST00000373220.3_Missense_Mutation_p.Y823H|CLSPN_ENST00000251195.5_Missense_Mutation_p.Y887H	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	887					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.Y887H(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAGCTTGGTACTGATTCCTG	0.458																																							uc001bzi.2		NA																	2	Substitution - Missense(2)		lung(2)	breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.(2659-2661)TAC>CAC		claspin							139.0	127.0	131.0					1																	36212562		2203	4300	6503	SO:0001583	missense	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36212562A>G	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.2659T>C	1.37:g.36212562A>G	ENSP00000312995:p.Tyr887His					CLSPN_uc009vux.2_Missense_Mutation_p.Y823H	p.Y887H	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			15	2739	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	887					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	c.2659T>C	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	15.61	2.885897	0.51908	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551	T;T;T;T	0.25085	1.82;1.83;1.87;1.87	6.0	4.88	0.63580	.	0.324362	0.34386	N	0.004019	T	0.27832	0.0685	M	0.66939	2.045	0.38586	D	0.950305	B;B	0.16166	0.007;0.016	B;B	0.19148	0.01;0.024	T	0.08146	-1.0736	10	0.27082	T	0.32	-4.1147	11.8639	0.52482	0.9322:0.0:0.0678:0.0	.	823;887	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	H	887;887;823;834	ENSP00000251195:Y887H;ENSP00000312995:Y887H;ENSP00000362317:Y823H;ENSP00000428848:Y834H	ENSP00000251195:Y887H	Y	-	1	0	CLSPN	35985149	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.188000	0.50958	1.107000	0.41642	0.482000	0.46254	TAC		0.458	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111		39	90	0	0	0	0.010771	0	39	90				
ASTN1	460	broad.mit.edu	37	1	176998839	176998839	+	Missense_Mutation	SNP	T	T	C	rs140453977		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:176998839T>C	ENST00000367654.3	-	5	1262	c.1051A>G	c.(1051-1053)Aca>Gca	p.T351A	ASTN1_ENST00000367657.3_Missense_Mutation_p.T351A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T351A|ASTN1_ENST00000361833.2_Missense_Mutation_p.T351A|MIR488_ENST00000365739.2_RNA	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	351					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.T351A(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTGCCTCTGTGCCAGAATCC	0.502																																							uc001glc.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1)	15						c.(1051-1053)ACA>GCA		astrotactin isoform 1							63.0	58.0	60.0					1																	176998839		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176998839T>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1051A>G	1.37:g.176998839T>C	ENSP00000356626:p.Thr351Ala					ASTN1_uc001glb.1_Missense_Mutation_p.T351A|ASTN1_uc001gld.1_Missense_Mutation_p.T351A|ASTN1_uc009wwx.1_Missense_Mutation_p.T351A|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank	p.T351A	NM_004319	NP_004310	O14525	ASTN1_HUMAN			5	1263	-			351					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1051A>G		.	.	.	.	.	.	.	.	.	.	T	14.69	2.611640	0.46631	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14640	2.49;2.91;2.91;2.49	5.03	3.89	0.44902	.	0.099302	0.64402	D	0.000002	T	0.07548	0.0190	N	0.14661	0.345	0.49483	D	0.999797	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.003	T	0.22871	-1.0204	10	0.40728	T	0.16	-5.4979	6.6992	0.23215	0.0:0.078:0.1552:0.7668	.	351;351;351	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	A	351	ENSP00000356629:T351A;ENSP00000354536:T351A;ENSP00000356626:T351A;ENSP00000395041:T351A	ENSP00000354536:T351A	T	-	1	0	ASTN1	175265462	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.839000	0.39220	0.832000	0.34804	0.528000	0.53228	ACA		0.502	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		13	18	0	0	0	0.016723	0	13	18				
LAD1	3898	broad.mit.edu	37	1	201355988	201355988	+	Silent	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:201355988T>C	ENST00000391967.2	-	3	802	c.501A>G	c.(499-501)gaA>gaG	p.E167E	LAD1_ENST00000367313.3_Silent_p.E181E	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	167						basement membrane (GO:0005604)	structural molecule activity (GO:0005198)	p.E167E(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						TCTTCCTCTCTTCTGGCTCCC	0.582																																							uc001gwm.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(499-501)GAA>GAG		ladinin 1							51.0	62.0	58.0					1																	201355988		2203	4300	6503	SO:0001819	synonymous_variant	3898					basement membrane	structural molecule activity	g.chr1:201355988T>C	U42408	CCDS1410.1	1q25.1-q32.3	2008-02-05			ENSG00000159166	ENSG00000159166			6472	protein-coding gene	gene with protein product		602314				8618013, 9119369	Standard	NM_005558		Approved		uc001gwm.3	O00515	OTTHUMG00000035737	ENST00000391967.2:c.501A>G	1.37:g.201355988T>C						LAD1_uc009wzu.1_Silent_p.E189E	p.E167E	NM_005558	NP_005549	O00515	LAD1_HUMAN			3	736	-			167					O95614|Q96GD8	Silent	SNP	ENST00000391967.2	37	c.501A>G	CCDS1410.1																																																																																				0.582	LAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086946.1	NM_005558		3	116	0	0	0	0.004672	0	3	116				
DISC1	27185	broad.mit.edu	37	1	231885726	231885726	+	Missense_Mutation	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:231885726A>G	ENST00000602281.1	+	4	1225	c.1172A>G	c.(1171-1173)cAc>cGc	p.H391R	DISC1_ENST00000535983.1_Missense_Mutation_p.H391R|DISC1_ENST00000366633.3_Missense_Mutation_p.H391R|DISC1_ENST00000539444.1_Missense_Mutation_p.H391R|DISC1_ENST00000439617.2_Missense_Mutation_p.H391R|DISC1_ENST00000366636.4_Missense_Mutation_p.H391R|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Missense_Mutation_p.H41R|DISC1_ENST00000537876.1_Missense_Mutation_p.H391R|TSNAX-DISC1_ENST00000602962.1_3'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	391	Interaction with TRAF3IP1.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)		p.H391R(2)|p.H423R(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATCAGCCTGCACTTTCAACTT	0.493																																							uc001huz.2		NA																	3	Substitution - Missense(3)		lung(3)	skin(1)	1						c.(1171-1173)CAC>CGC		disrupted in schizophrenia 1 isoform L							104.0	102.0	103.0					1																	231885726		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231885726A>G	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1172A>G	1.37:g.231885726A>G	ENSP00000473425:p.His391Arg					TSNAX-DISC1_uc010pwf.1_3'UTR|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.H346R|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.H346R|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.H380R|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_3'UTR|DISC1_uc010pwp.1_Missense_Mutation_p.H391R|DISC1_uc010pwq.1_Missense_Mutation_p.H391R|DISC1_uc010pwr.1_Missense_Mutation_p.H391R|DISC1_uc010pws.1_Missense_Mutation_p.H391R|DISC1_uc010pwt.1_Missense_Mutation_p.H391R|DISC1_uc010pwu.1_Missense_Mutation_p.H41R|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.H391R|DISC1_uc010pwx.1_Intron|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.H391R|DISC1_uc010pxb.1_Missense_Mutation_p.H391R|DISC1_uc010pxc.1_Missense_Mutation_p.H391R|DISC1_uc010pxd.1_Missense_Mutation_p.H36R|DISC1_uc010pxe.1_Missense_Mutation_p.H391R|DISC1_uc009xfr.2_Missense_Mutation_p.H346R|DISC1_uc010pxf.1_Missense_Mutation_p.H391R|DISC1_uc010pxg.1_Missense_Mutation_p.H391R|DISC1_uc010pxh.1_Missense_Mutation_p.H423R|DISC1_uc010pxi.1_Intron|DISC1_uc010pxj.1_Missense_Mutation_p.H36R|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.H391R|DISC1_uc010pxn.1_Missense_Mutation_p.H36R|DISC1_uc001hva.2_Missense_Mutation_p.H391R	p.H391R	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			4	1225	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	391			Interaction with TRAF3IP1.|Potential.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.1172A>G	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	.	5.689	0.311698	0.10789	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.11385	3.16;2.99;2.98;2.79;3.16;2.8;2.8;2.78	4.53	3.19	0.36642	.	0.912032	0.09397	N	0.807684	T	0.07279	0.0184	L	0.27053	0.805	0.09310	N	0.999994	P;B;P;P;P;P;P;P;B;P;P;B;P;P;P;P;P;P;B	0.47302	0.733;0.078;0.608;0.706;0.733;0.893;0.456;0.733;0.032;0.497;0.497;0.257;0.497;0.497;0.733;0.706;0.733;0.706;0.257	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.39419	0.175;0.037;0.175;0.09;0.175;0.299;0.053;0.231;0.037;0.123;0.09;0.053;0.09;0.09;0.175;0.09;0.175;0.09;0.053	T	0.22626	-1.0211	10	0.13108	T	0.6	0.0948	8.1133	0.30928	0.653:0.347:0.0:0.0	.	423;391;423;391;391;391;391;391;41;391;391;391;391;391;391;391;391;391;391	C4P096;C4P094;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	R	391;391;391;423;391;391;391;391;391;391;391	ENSP00000403888:H391R;ENSP00000355596:H391R;ENSP00000443996:H391R;ENSP00000440909:H391R;ENSP00000355593:H391R;ENSP00000440953:H391R;ENSP00000295051:H391R;ENSP00000441193:H391R	ENSP00000295051:H391R	H	+	2	0	DISC1	229952349	0.000000	0.05858	0.511000	0.27724	0.499000	0.33736	0.251000	0.18257	0.533000	0.28675	0.533000	0.62120	CAC		0.493	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		32	61	0	0	0	0.013726	0	32	61				
RYR2	6262	broad.mit.edu	37	1	237754106	237754106	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237754106C>A	ENST00000366574.2	+	31	4291	c.3974C>A	c.(3973-3975)gCt>gAt	p.A1325D	RYR2_ENST00000360064.6_Missense_Mutation_p.A1323D|RYR2_ENST00000542537.1_Missense_Mutation_p.A1309D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1325	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.A1323D(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCCCTGGGGCTGGCCTTTTT	0.522																																							uc001hyl.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3973-3975)GCT>GAT		cardiac muscle ryanodine receptor							103.0	101.0	101.0					1																	237754106		1921	4130	6051	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237754106C>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3974C>A	1.37:g.237754106C>A	ENSP00000355533:p.Ala1325Asp						p.A1325D	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4094	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1325			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3974C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	17.32	3.359127	0.61403	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96685	-4.09;-4.06;-4.08	5.23	5.23	0.72850	.	0.561410	0.15324	N	0.268379	D	0.92622	0.7656	N	0.19112	0.55	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	D	0.86901	0.2054	10	0.25751	T	0.34	.	19.3556	0.94412	0.0:1.0:0.0:0.0	.	1325	Q92736	RYR2_HUMAN	D	1325;1323;1309	ENSP00000355533:A1325D;ENSP00000353174:A1323D;ENSP00000443798:A1309D	ENSP00000353174:A1323D	A	+	2	0	RYR2	235820729	0.063000	0.20901	0.047000	0.18901	0.981000	0.71138	3.020000	0.49643	2.882000	0.98803	0.655000	0.94253	GCT		0.522	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		40	77	1	0	1.57019e-19	0.007835	1.90235e-19	40	77				
RYR2	6262	broad.mit.edu	37	1	237829818	237829818	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:237829818G>T	ENST00000366574.2	+	57	8760	c.8443G>T	c.(8443-8445)Gtg>Ttg	p.V2815L	RYR2_ENST00000360064.6_Missense_Mutation_p.V2813L|RYR2_ENST00000542537.1_Missense_Mutation_p.V2799L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2815	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.V2813L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGTTTCTGTGGACGCTGC	0.373																																							uc001hyl.1		NA																	1	Substitution - Missense(1)	p.A2815T(1)	lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(8443-8445)GTG>TTG		cardiac muscle ryanodine receptor							58.0	55.0	56.0					1																	237829818		1866	4094	5960	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237829818G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8443G>T	1.37:g.237829818G>T	ENSP00000355533:p.Val2815Leu						p.V2815L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		57	8563	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2815			Modulator (Potential).|Cytoplasmic (By similarity).|4 X approximate repeats.|4.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.8443G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	7.793	0.711906	0.15306	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-3.96;-3.99	5.34	1.06	0.20224	.	0.460478	0.18918	N	0.127576	D	0.86406	0.5925	N	0.03608	-0.345	0.38194	D	0.939992	B	0.09022	0.002	B	0.06405	0.002	T	0.75966	-0.3131	10	0.12766	T	0.61	-5.6352	8.4343	0.32778	0.3607:0.0:0.6393:0.0	.	2815	Q92736	RYR2_HUMAN	L	2815;2813;2799	ENSP00000355533:V2815L;ENSP00000353174:V2813L;ENSP00000443798:V2799L	ENSP00000353174:V2813L	V	+	1	0	RYR2	235896441	0.527000	0.26306	0.784000	0.31847	0.769000	0.43574	0.498000	0.22530	0.258000	0.21686	0.591000	0.81541	GTG		0.373	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		11	15	1	0	0.00829132	0.008291	0.00900609	11	15				
USP6NL	9712	broad.mit.edu	37	10	11504482	11504482	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:11504482C>T	ENST00000609104.1	-	15	2839	c.2445G>A	c.(2443-2445)agG>agA	p.R815R	USP6NL_ENST00000379237.2_Silent_p.R838R|USP6NL_ENST00000277575.5_Silent_p.R832R	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	815					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.R832R(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTCCCGATTCCTGTAGTGGT	0.502																																							uc001ikt.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(2443-2445)AGG>AGA		USP6 N-terminal like isoform 1							58.0	63.0	62.0					10																	11504482		2005	4159	6164	SO:0001819	synonymous_variant	9712					intracellular	Rab GTPase activator activity	g.chr10:11504482C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.2445G>A	10.37:g.11504482C>T						USP6NL_uc001iks.1_Silent_p.R832R	p.R815R	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	2766	-			815					A8KA79|Q15400|Q5VV10|Q7L0K9	Silent	SNP	ENST00000609104.1	37	c.2445G>A	CCDS53492.1																																																																																				0.502	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		22	38	0	0	0	0.014323	0	22	38				
WAC	51322	broad.mit.edu	37	10	28900789	28900789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:28900789C>T	ENST00000354911.4	+	10	1536	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	WAC_ENST00000347934.4_Nonsense_Mutation_p.Q356*|WAC_ENST00000375664.4_Nonsense_Mutation_p.Q414*|WAC_ENST00000375646.1_Nonsense_Mutation_p.Q307*	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	459					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.Q459*(1)|p.Q459E(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAGCACACCTCAAACTAACAC	0.433																																							uc001iuf.2		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	large_intestine(1)|ovary(1)	2						c.(1375-1377)CAA>TAA		WW domain-containing adapter with a coiled-coil							169.0	141.0	150.0					10																	28900789		2203	4300	6503	SO:0001587	stop_gained	51322				cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding	g.chr10:28900789C>T	AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1375C>T	10.37:g.28900789C>T	ENSP00000346986:p.Gln459*					WAC_uc001iud.2_Nonsense_Mutation_p.Q414*|WAC_uc001iue.2_Nonsense_Mutation_p.Q149*|WAC_uc001iug.2_Nonsense_Mutation_p.Q356*|WAC_uc001iuh.2_Nonsense_Mutation_p.Q411*	p.Q459*	NM_016628	NP_057712	Q9BTA9	WAC_HUMAN			10	1460	+			459					A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Nonsense_Mutation	SNP	ENST00000354911.4	37	c.1375C>T	CCDS7159.1	.	.	.	.	.	.	.	.	.	.	C	40	8.051503	0.98629	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000338396	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-9.8677	20.0769	0.97748	0.0:1.0:0.0:0.0	.	.	.	.	X	414;307;356;459;22	.	ENSP00000341462:Q22X	Q	+	1	0	WAC	28940795	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.776000	0.85560	2.820000	0.97059	0.650000	0.86243	CAA		0.433	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000047371.1	NM_100264		61	85	0	0	0	0.01441	0	61	85				
UNC5B	219699	broad.mit.edu	37	10	73047492	73047492	+	Nonsense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr10:73047492C>T	ENST00000335350.6	+	6	1287	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.Q291*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	291	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.Q291*(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAGGCATTCCAGAAGACCGC	0.652																																							uc001jro.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(1)	3						c.(871-873)CAG>TAG		unc-5 homolog B precursor							64.0	61.0	62.0					10																	73047492		2203	4300	6503	SO:0001587	stop_gained	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73047492C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.871C>T	10.37:g.73047492C>T	ENSP00000334329:p.Gln291*					UNC5B_uc001jrp.2_Nonsense_Mutation_p.Q291*	p.Q291*	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN			6	1316	+			291			TSP type-1 1.|Extracellular (Potential).		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Nonsense_Mutation	SNP	ENST00000335350.6	37	c.871C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	c	41	9.046628	0.99048	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	.	.	.	4.88	4.88	0.63580	.	0.060965	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-20.3366	18.0882	0.89464	0.0:1.0:0.0:0.0	.	.	.	.	X	291	.	ENSP00000334329:Q291X	Q	+	1	0	UNC5B	72717498	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.989000	0.70587	2.263000	0.75096	0.537000	0.68136	CAG		0.652	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		19	25	0	0	0	0.010504	0	19	25				
B3GNT1	11041	broad.mit.edu	37	11	66114503	66114503	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:66114503C>T	ENST00000311181.4	-	1	660	c.514G>A	c.(514-516)Gag>Aag	p.E172K	BRMS1_ENST00000359957.3_5'Flank|BRMS1_ENST00000425825.2_5'Flank|RP11-867G23.8_ENST00000531602.1_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	172					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.E172*(1)|p.E172K(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						TCCCCCGGCTCCCGGGGGTCG	0.682																																							uc001ohr.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)		0						c.(514-516)GAG>AAG		UDP-GlcNAc:betaGal							13.0	15.0	14.0					11																	66114503		2196	4282	6478	SO:0001583	missense	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114503C>T	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.514G>A	11.37:g.66114503C>T	ENSP00000309096:p.Glu172Lys					BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.E172K	NM_006876	NP_006867	O43505	B3GN1_HUMAN			1	659	-			172			Lumenal (Potential).		Q4TTN0	Missense_Mutation	SNP	ENST00000311181.4	37	c.514G>A	CCDS8136.1	.	.	.	.	.	.	.	.	.	.	C	18.44	3.624067	0.66901	.	.	ENSG00000174684	ENST00000311181	T	0.23552	1.9	5.63	5.63	0.86233	.	0.304112	0.34386	N	0.004019	T	0.18923	0.0454	L	0.33485	1.01	0.53005	D	0.999968	B	0.27853	0.191	B	0.23150	0.044	T	0.04065	-1.0980	10	0.06891	T	0.86	-30.9911	17.1609	0.86803	0.0:1.0:0.0:0.0	.	172	O43505	B3GN1_HUMAN	K	172	ENSP00000309096:E172K	ENSP00000309096:E172K	E	-	1	0	B3GNT1	65871079	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.243000	0.58721	2.657000	0.90304	0.462000	0.41574	GAG		0.682	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1	NM_006876		10	16	0	0	0	0.013537	0	10	16				
NTM	50863	broad.mit.edu	37	11	132016192	132016192	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr11:132016192C>T	ENST00000374786.1	+	2	663	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	NTM_ENST00000374791.3_Missense_Mutation_p.R62W|NTM_ENST00000427481.2_Missense_Mutation_p.R53W|NTM_ENST00000539799.1_Missense_Mutation_p.R62W|NTM_ENST00000425719.2_Missense_Mutation_p.R62W|NTM_ENST00000374784.1_Missense_Mutation_p.R62W	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	62	Ig-like C2-type 1.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R62W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						TATTGACAACCGGGTCACCCG	0.577																																							uc001qgp.2		NA																	2	Substitution - Missense(2)	p.R62R(1)	lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(184-186)CGG>TGG		neurotrimin isoform 1							110.0	90.0	97.0					11																	132016192		2201	4297	6498	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132016192C>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.184C>T	11.37:g.132016192C>T	ENSP00000363918:p.Arg62Trp					NTM_uc001qgm.2_Missense_Mutation_p.R62W|NTM_uc010sch.1_Missense_Mutation_p.R53W|NTM_uc010sci.1_Missense_Mutation_p.R62W|NTM_uc010scj.1_Missense_Mutation_p.R21W|NTM_uc001qgo.2_Missense_Mutation_p.R62W|NTM_uc001qgq.2_Missense_Mutation_p.R62W	p.R62W	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			2	848	+			62			Ig-like C2-type 1.		A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.184C>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162507	0.78226	.	.	ENSG00000182667	ENST00000374791;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.69	5.69	0.88448	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.054148	0.64402	D	0.000001	T	0.78059	0.4224	L	0.59436	1.845	0.47276	D	0.999374	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.998	D;D;D;D;P;D	0.72625	0.978;0.964;0.962;0.935;0.894;0.94	T	0.77005	-0.2748	10	0.45353	T	0.12	-18.7026	14.6363	0.68692	0.1455:0.8545:0.0:0.0	.	62;53;62;62;62;62	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	W	62;62;53;53;62;62;62	ENSP00000363923:R62W;ENSP00000437668:R62W;ENSP00000448104:R53W;ENSP00000416320:R53W;ENSP00000363918:R62W;ENSP00000396722:R62W;ENSP00000363916:R62W	ENSP00000363916:R62W	R	+	1	2	NTM	131521402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.766000	0.47629	2.691000	0.91804	0.655000	0.94253	CGG		0.577	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		11	30	0	0	0	0.010729	0	11	30				
KCNJ8	3764	broad.mit.edu	37	12	21926414	21926414	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:21926414G>A	ENST00000240662.2	-	2	482	c.137C>T	c.(136-138)gCg>gTg	p.A46V		NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	46					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.A46V(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GTTCTTATGCGCCAGGTTGCA	0.612											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001rff.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(136-138)GCG>GTG		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						117.0	104.0	109.0					12																	21926414		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21926414G>A	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.137C>T	12.37:g.21926414G>A	ENSP00000240662:p.Ala46Val		OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	752		p.A46V	NM_004982	NP_004973	Q15842	IRK8_HUMAN			2	475	-			46			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.137C>T	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082509	0.76528	.	.	ENSG00000121361	ENST00000240662;ENST00000539350;ENST00000537950	D;D	0.94046	-3.34;-3.34	4.88	4.88	0.63580	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.93115	0.7808	N	0.17922	0.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90232	0.4280	10	0.13470	T	0.59	.	18.2172	0.89890	0.0:0.0:1.0:0.0	.	46	Q15842	IRK8_HUMAN	V	46	ENSP00000240662:A46V;ENSP00000440012:A46V	ENSP00000240662:A46V	A	-	2	0	KCNJ8	21817681	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.640000	0.98453	2.531000	0.85337	0.591000	0.81541	GCG		0.612	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		16	31	0	0	0	0.008871	0	16	31				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GTT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA	p.G12V	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		8	20	1	0	0.000442599	0.006214	0.000497924	8	20				
KMT2D	8085	broad.mit.edu	37	12	49418397	49418397	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:49418397G>A	ENST00000301067.7	-	50	16015	c.16016C>T	c.(16015-16017)gCc>gTc	p.A5339V		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	5339					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A5069V(1)|p.A5339V(1)									CTCTGATCGGGCACAGCCAGT	0.567																																							uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		2	Substitution - Missense(2)		lung(2)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(16015-16017)GCC>GTC		myeloid/lymphoid or mixed-lineage leukemia 2							49.0	49.0	49.0					12																	49418397		1982	4170	6152	SO:0001583	missense	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49418397G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.16016C>T	12.37:g.49418397G>A	ENSP00000301067:p.Ala5339Val	HNSCC(34;0.089)					p.A5339V	NM_003482	NP_003473	O14686	MLL2_HUMAN			50	16016	-			5339					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.16016C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	34	5.401096	0.96030	.	.	ENSG00000167548	ENST00000301067;ENST00000526209	D;D	0.97016	-1.8;-4.21	5.36	5.36	0.76844	.	0.000000	0.35067	N	0.003476	D	0.98040	0.9354	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98766	1.0726	10	0.87932	D	0	.	18.2502	0.90000	0.0:0.0:1.0:0.0	.	5339	O14686	MLL2_HUMAN	V	5339;4	ENSP00000301067:A5339V;ENSP00000435714:A4V	ENSP00000301067:A5339V	A	-	2	0	MLL2	47704664	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.685000	0.91497	0.655000	0.94253	GCC		0.567	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			3	38	0	0	0	0.004672	0	3	38				
CSAD	51380	broad.mit.edu	37	12	53564229	53564229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53564229G>A	ENST00000444623.1	-	9	892	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CSAD_ENST00000267085.4_Nonsense_Mutation_p.R236*|CSAD_ENST00000379843.3_Nonsense_Mutation_p.R62*|CSAD_ENST00000491654.1_5'Flank|CSAD_ENST00000453446.2_Nonsense_Mutation_p.R209*|CSAD_ENST00000379846.1_Nonsense_Mutation_p.R62*	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	209					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)	p.R209*(1)|p.R236*(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	TTGACCACTCGGACACTGTCG	0.567																																					Ovarian(109;252 1546 16882 28524 44645)	Ovarian(109;252 1546 16882 28524 44645)	uc001sby.2		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(625-627)CGA>TGA		cysteine sulfinic acid decarboxylase	L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)						116.0	100.0	105.0					12																	53564229		2203	4300	6503	SO:0001587	stop_gained	51380	Hereditary_Prostate_Cancer			carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity	g.chr12:53564229G>A	AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.625C>T	12.37:g.53564229G>A	ENSP00000415485:p.Arg209*					CSAD_uc001sbw.2_Nonsense_Mutation_p.R62*|CSAD_uc009zmt.2_5'UTR|CSAD_uc010snx.1_Nonsense_Mutation_p.R236*|CSAD_uc001sbz.2_Nonsense_Mutation_p.R209*|CSAD_uc009zmu.2_Nonsense_Mutation_p.R62*|CSAD_uc001sca.3_RNA	p.R209*	NM_015989	NP_057073	Q9Y600	CSAD_HUMAN			8	751	-			209					A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	Nonsense_Mutation	SNP	ENST00000444623.1	37	c.625C>T	CCDS58235.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	7.033059|7.033059	0.98017|0.98017	.|.	.|.	ENSG00000139631|ENSG00000139631	ENST00000379850|ENST00000308926;ENST00000379843;ENST00000267085;ENST00000379846;ENST00000444623;ENST00000398047;ENST00000453446;ENST00000548698	.|.	.|.	.|.	5.18|5.18	3.32|3.32	0.38043|0.38043	.|.	.|0.283763	.|0.32736	.|N	.|0.005719	T|.	0.47002|.	0.1422|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32322|.	-0.9911|.	4|.	.|0.28530	.|T	.|0.3	-1.7099|-1.7099	4.8527|4.8527	0.13545|0.13545	0.1727:0.0:0.6558:0.1715|0.1727:0.0:0.6558:0.1715	.|.	.|.	.|.	.|.	L|X	234|298;62;236;62;209;170;209;62	.|.	.|ENSP00000267085:R236X	P|R	-|-	2|1	0|2	CSAD|CSAD	51850496|51850496	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	1.562000|1.562000	0.36353|0.36353	0.858000|0.858000	0.35431|0.35431	0.561000|0.561000	0.74099|0.74099	CCG|CGA		0.567	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343697.1	NM_015989		20	37	0	0	0	0.010504	0	20	37				
TIMELESS	8914	broad.mit.edu	37	12	56822747	56822747	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:56822747G>A	ENST00000553532.1	-	11	1374	c.1224C>T	c.(1222-1224)ttC>ttT	p.F408F	TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000229201.4_Silent_p.F407F					timeless circadian clock									p.F408F(1)		NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CAATGAAGTGGAAGGTACGGA	0.552																																							uc001slf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|breast(2)|pancreas(1)	8						c.(1222-1224)TTC>TTT		timeless homolog							127.0	112.0	117.0					12																	56822747		2203	4300	6503	SO:0001819	synonymous_variant	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56822747G>A	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1224C>T	12.37:g.56822747G>A						TIMELESS_uc001slg.2_Silent_p.F407F	p.F408F	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN			11	1392	-			408						Silent	SNP	ENST00000553532.1	37	c.1224C>T	CCDS8918.1																																																																																				0.552	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		17	42	0	0	0	0.008871	0	17	42				
SIAH3	283514	broad.mit.edu	37	13	46357677	46357677	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:46357677C>T	ENST00000400405.2	-	2	757	c.651G>A	c.(649-651)acG>acA	p.T217T		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	217					multicellular organismal development (GO:0007275)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.T217T(1)		large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CAGACCGGGGCGTGGCCTCCC	0.617																																							uc001vap.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(649-651)ACG>ACA		seven in absentia homolog 3							48.0	54.0	52.0					13																	46357677		1996	4155	6151	SO:0001819	synonymous_variant	283514				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding	g.chr13:46357677C>T		CCDS41883.1	13q14.12	2012-02-23	2012-02-23		ENSG00000215475	ENSG00000215475			30553	protein-coding gene	gene with protein product		615609	"""seven in absentia homolog 3 (Drosophila)"""			12477932	Standard	NM_198849		Approved	FLJ39203	uc001vap.3	Q8IW03	OTTHUMG00000016862	ENST00000400405.2:c.651G>A	13.37:g.46357677C>T							p.T217T	NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN			2	733	-			217					B7ZBP0|Q8N8M6	Silent	SNP	ENST00000400405.2	37	c.651G>A	CCDS41883.1																																																																																				0.617	SIAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044788.2	NM_198849		22	34	0	0	0	0.010504	0	22	34				
DCT	1638	broad.mit.edu	37	13	95131260	95131260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr13:95131260C>A	ENST00000377028.5	-	1	663	c.250G>T	c.(250-252)Gag>Tag	p.E84*	DCT_ENST00000446125.1_Nonsense_Mutation_p.E84*	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	84					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.E84*(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGCCACAGCTCACGGTCATCC	0.612																																							uc001vlv.3		NA																	2	Substitution - Nonsense(2)		lung(2)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(250-252)GAG>TAG		dopachrome tautomerase isoform 1							98.0	84.0	89.0					13																	95131260		2203	4300	6503	SO:0001587	stop_gained	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95131260C>A	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.250G>T	13.37:g.95131260C>A	ENSP00000366227:p.Glu84*					DCT_uc010afh.2_Nonsense_Mutation_p.E84*	p.E84*	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	1	677	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	84			Lumenal, melanosome (Potential).		Q09GT4	Nonsense_Mutation	SNP	ENST00000377028.5	37	c.250G>T	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	41	9.147970	0.99082	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-23.91	19.0	0.92829	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000366227:E84X	E	-	1	0	DCT	93929261	1.000000	0.71417	0.985000	0.45067	0.793000	0.44817	7.298000	0.78815	2.482000	0.83794	0.650000	0.86243	GAG		0.612	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			14	41	1	0	3.45872e-05	0.004007	3.9618e-05	14	41				
GABRG3	2567	broad.mit.edu	37	15	27772631	27772631	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr15:27772631C>T	ENST00000333743.6	+	8	1172	c.918C>T	c.(916-918)tcC>tcT	p.S306S	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	306					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.S306S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGGAAGTCCTTGCCACGCG	0.567																																					NSCLC(114;800 1656 7410 37729 45293)	NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)TCC>TCT		gamma-aminobutyric acid (GABA) A receptor, gamma							123.0	119.0	120.0					15																	27772631		2195	4292	6487	SO:0001819	synonymous_variant	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772631C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.918C>T	15.37:g.27772631C>T							p.S306S	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1084	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	306					G3V594|Q9HD46|Q9NYT2	Silent	SNP	ENST00000333743.6	37	c.918C>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	1.808	-0.475299	0.04414	.	.	ENSG00000182256	ENST00000451330	.	.	.	5.48	-1.35	0.09114	.	.	.	.	.	T	0.40247	0.1109	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.27806	-1.0063	4	.	.	.	.	1.9279	0.03321	0.3391:0.3724:0.1024:0.186	.	.	.	.	L	69	.	.	P	+	2	0	GABRG3	25446226	0.001000	0.12720	0.314000	0.25224	0.132000	0.20833	-0.751000	0.04803	-0.030000	0.13804	-0.311000	0.09066	CCT		0.567	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			20	36	0	0	0	0.016522	0	20	36				
FUK	197258	broad.mit.edu	37	16	70504952	70504952	+	Missense_Mutation	SNP	G	G	A	rs376461962		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr16:70504952G>A	ENST00000288078.6	+	12	1379	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	FUK_ENST00000378912.2_Missense_Mutation_p.V415I|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	383						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.V383I(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TCCTGGGAGCGTCCTGCAGCA	0.682																																							uc002eyy.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1147-1149)GTC>ATC		fucokinase		G	ILE/VAL	1,4231		0,1,2115	16.0	21.0	19.0		1147	3.8	1.0	16		19	1,8483		0,1,4241	no	missense	FUK	NM_145059.2	29	0,2,6356	AA,AG,GG		0.0118,0.0236,0.0157	possibly-damaging	383/1085	70504952	2,12714	2116	4242	6358	SO:0001583	missense	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70504952G>A		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1147G>A	16.37:g.70504952G>A	ENSP00000288078:p.Val383Ile					FUK_uc010cft.2_Missense_Mutation_p.V415I|FUK_uc002eyz.2_5'UTR	p.V383I	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			12	1205	+		Ovarian(137;0.0694)	383					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	c.1147G>A	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515234	0.85389	2.36E-4	1.18E-4	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.36699	1.24;1.24	5.84	3.85	0.44370	L-fucokinase (1);	0.131423	0.50627	D	0.000101	T	0.36413	0.0966	L	0.59436	1.845	0.80722	D	1	P;D	0.54397	0.846;0.966	B;P	0.45506	0.279;0.483	T	0.16630	-1.0396	10	0.39692	T	0.17	-21.1751	10.2365	0.43286	0.0726:0.1342:0.7932:0.0	.	415;383	Q8N0W3-2;Q8N0W3	.;FUK_HUMAN	I	383;415	ENSP00000288078:V383I;ENSP00000368192:V415I	ENSP00000288078:V383I	V	+	1	0	FUK	69062453	0.403000	0.25319	0.995000	0.50966	0.931000	0.56810	2.383000	0.44354	1.476000	0.48215	0.655000	0.94253	GTC		0.682	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		4	6	0	0	0	0.009096	0	4	6				
KCNJ12	3768	broad.mit.edu	37	17	21318889	21318889	+	Missense_Mutation	SNP	C	C	T	rs199966356		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:21318889C>T	ENST00000583088.1	+	3	1130	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R79C	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	79					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.R79C(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TGTGGACATCCGCTGGCGGTA	0.567										Prostate(3;0.18)																													uc002gyv.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(235-237)CGC>TGC		potassium inwardly-rectifying channel, subfamily	Dofetilide(DB00204)	C	CYS/ARG	0,4406		0,0,2203	211.0	130.0	157.0		235	5.3	1.0	17		157	1,8599		0,1,4299	no	missense	KCNJ12	NM_021012.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	79/434	21318889	1,13005	2203	4300	6503	SO:0001583	missense	3768				blood circulation|muscle contraction|regulation of heart contraction|synaptic transmission	integral to membrane	inward rectifier potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr17:21318889C>T	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.235C>T	17.37:g.21318889C>T	ENSP00000463778:p.Arg79Cys	Prostate(3;0.18)					p.R79C	NM_021012	NP_066292	Q14500	IRK12_HUMAN		Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	940	+			79			Cytoplasmic (By similarity).		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.235C>T	CCDS11219.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	0	0.0	1	0.0013192612137203166	C	24.8	4.573960	0.86542	0.0	1.16E-4	ENSG00000184185	ENST00000331718	D	0.94758	-3.51	5.33	5.33	0.75918	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.000000	0.85682	D	0.000000	D	0.97898	0.9309	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.98755	1.0722	10	0.87932	D	0	.	19.026	0.92932	0.0:1.0:0.0:0.0	.	79	Q14500	IRK12_HUMAN	C	79	ENSP00000328150:R79C	ENSP00000328150:R79C	R	+	1	0	KCNJ12	21259482	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.680000	0.84062	2.506000	0.84524	0.591000	0.81541	CGC		0.567	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		4	56	0	0	0	0.009096	0	4	56				
GRIN2C	2905	broad.mit.edu	37	17	72846417	72846417	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr17:72846417G>A	ENST00000293190.5	-	6	1565	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIN2C_ENST00000347612.4_Silent_p.Y473Y|GRIN2C_ENST00000578159.1_5'Flank	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	473					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)	p.Y473Y(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTACAGGTCGTAGGAGAATT	0.612																																							uc002jlt.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(2)	4						c.(1417-1419)TAC>TAT		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						141.0	123.0	129.0					17																	72846417		2203	4300	6503	SO:0001819	synonymous_variant	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72846417G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1419C>T	17.37:g.72846417G>A						GRIN2C_uc010wrh.1_RNA|GRIN2C_uc002jlu.1_Silent_p.Y473Y	p.Y473Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			6	1575	-	all_lung(278;0.172)|Lung NSC(278;0.207)		473			Extracellular (Potential).		B2RTT1	Silent	SNP	ENST00000293190.5	37	c.1419C>T	CCDS32724.1																																																																																				0.612	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1			49	96	0	0	0	0.01441	0	49	96				
LAMA1	284217	broad.mit.edu	37	18	6958505	6958505	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr18:6958505G>A	ENST00000389658.3	-	55	8028	c.7935C>T	c.(7933-7935)ggC>ggT	p.G2645G	RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2645	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.G2645G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				TTTTGATACAGCCATGGAACG	0.453																																							uc002knm.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(7933-7935)GGC>GGT		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						158.0	119.0	133.0					18																	6958505		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6958505G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.7935C>T	18.37:g.6958505G>A						LAMA1_uc002knk.2_5'Flank|LAMA1_uc002knl.2_Silent_p.G98G|LAMA1_uc010wzj.1_Silent_p.G2121G	p.G2645G	NM_005559	NP_005550	P25391	LAMA1_HUMAN			55	8029	-		Colorectal(10;0.172)	2645			Laminin G-like 3.			Silent	SNP	ENST00000389658.3	37	c.7935C>T	CCDS32787.1																																																																																				0.453	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	80	0	0	0	0.014758	0	5	80				
MEX3C	51320	broad.mit.edu	37	18	48702929	48702929	+	5'Flank	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr18:48702929T>C	ENST00000591040.1	-	0	799							Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.N591S(1)|p.N396S(1)		endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		GGAACCACCATTGGAAGAGGA	0.478																																							uc002lfc.3		NA																	2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(1771-1773)AAT>AGT		ring finger and KH domain containing 2							166.0	151.0	156.0					18																	48702929		2203	4300	6503	SO:0001631	upstream_gene_variant	51320					cytoplasm|nucleus	RNA binding|zinc ion binding	g.chr18:48702929T>C	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693		18.37:g.48702929T>C	Exception_encountered						p.N591S	NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)	2	1772	-		Colorectal(6;0.003)|all_epithelial(6;0.0473)	591					A1L022|Q9NZE3	Missense_Mutation	SNP	ENST00000591040.1	37	c.1772A>G		.	.	.	.	.	.	.	.	.	.	T	1.260	-0.615967	0.03663	.	.	ENSG00000176624	ENST00000406189	T	0.27402	1.67	6.03	6.03	0.97812	.	0.211617	0.49916	D	0.000126	T	0.14960	0.0361	N	0.01874	-0.695	0.33155	D	0.546155	D	0.54207	0.965	P	0.47251	0.542	T	0.12400	-1.0549	10	0.02654	T	1	-10.8547	15.5408	0.76043	0.0:0.0:0.0:1.0	.	591	Q5U5Q3	MEX3C_HUMAN	S	591	ENSP00000385610:N591S	ENSP00000385610:N591S	N	-	2	0	MEX3C	46956927	0.994000	0.37717	1.000000	0.80357	0.998000	0.95712	1.738000	0.38207	2.308000	0.77769	0.533000	0.62120	AAT		0.478	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	protein_coding	OTTHUMT00000449559.1	NM_016626		4	76	0	0	0	0.009096	0	4	76				
SAFB	6294	broad.mit.edu	37	19	5661591	5661591	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr19:5661591G>A	ENST00000292123.5	+	15	2032	c.1925G>A	c.(1924-1926)cGt>cAt	p.R642H	SAFB_ENST00000454510.1_Missense_Mutation_p.R573H|SAFB_ENST00000433404.1_Missense_Mutation_p.R472H|SAFB_ENST00000592224.1_Missense_Mutation_p.R641H|SAFB_ENST00000538656.1_Missense_Mutation_p.R484H|SAFB_ENST00000588852.1_Missense_Mutation_p.R642H	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	642	Arg-rich.|Glu-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R642H(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CGCGAGGAGCGTGAGCGGCTG	0.662																																					Colon(88;338 1345 6184 8214 20897)	Colon(88;338 1345 6184 8214 20897)	uc002mcf.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)|skin(1)	3						c.(1924-1926)CGT>CAT		scaffold attachment factor B							34.0	40.0	38.0					19																	5661591		2200	4299	6499	SO:0001583	missense	6294				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding	g.chr19:5661591G>A	L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1925G>A	19.37:g.5661591G>A	ENSP00000292123:p.Arg642His					SAFB_uc002mcg.2_Missense_Mutation_p.R642H|SAFB_uc002mce.3_Missense_Mutation_p.R641H|SAFB_uc010xir.1_Missense_Mutation_p.R641H|SAFB_uc010xis.1_Missense_Mutation_p.R573H|SAFB_uc010xit.1_Missense_Mutation_p.R484H|SAFB_uc010xiu.1_Missense_Mutation_p.R441H	p.R642H	NM_002967	NP_002958	Q15424	SAFB1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)	15	1978	+			642			Interaction with SAFB2.|Interaction with POLR2A.|Arg-rich.|Glu-rich.		A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	c.1925G>A	CCDS12142.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.839957	0.71488	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.15139	2.49;2.65;2.52;2.45	5.26	5.26	0.73747	.	0.000000	0.52532	D	0.000066	T	0.44871	0.1314	M	0.75615	2.305	0.49798	D	0.999826	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.76071	0.972;0.972;0.987;0.972;0.972;0.972;0.972	T	0.36089	-0.9762	10	0.56958	D	0.05	-4.0814	19.2257	0.93817	0.0:0.0:1.0:0.0	.	441;484;573;641;642;642;641	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	H	573;537;472;642;484	ENSP00000415895:R573H;ENSP00000404545:R472H;ENSP00000292123:R642H;ENSP00000438880:R484H	ENSP00000292123:R642H	R	+	2	0	SAFB	5612591	1.000000	0.71417	0.968000	0.41197	0.962000	0.63368	6.593000	0.74100	2.618000	0.88619	0.455000	0.32223	CGT		0.662	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			13	29	0	0	0	0.016723	0	13	29				
KIDINS220	57498	broad.mit.edu	37	2	8926114	8926114	+	Silent	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:8926114G>A	ENST00000256707.3	-	17	2167	c.1986C>T	c.(1984-1986)atC>atT	p.I662I	KIDINS220_ENST00000319688.5_Silent_p.I663I|KIDINS220_ENST00000427284.1_Silent_p.I662I|KIDINS220_ENST00000473731.1_Silent_p.I662I|KIDINS220_ENST00000418530.1_Silent_p.I620I	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	662	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)	p.I662I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TAAAAAGGAAGATGACAAAAG	0.328																																							uc002qzc.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1984-1986)ATC>ATT		kinase D-interacting substrate of 220 kDa							109.0	106.0	107.0					2																	8926114		1852	4096	5948	SO:0001819	synonymous_variant	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8926114G>A	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1986C>T	2.37:g.8926114G>A						KIDINS220_uc010yiv.1_Silent_p.I428I|KIDINS220_uc002qzd.2_Silent_p.I620I|KIDINS220_uc010yiw.1_Silent_p.I663I	p.I662I	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN			17	2168	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		662			KAP NTPase.|Helical; (Potential).		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	ENST00000256707.3	37	c.1986C>T	CCDS42650.1																																																																																				0.328	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		30	49	0	0	0	0.019004	0	30	49				
REV1	51455	broad.mit.edu	37	2	100079005	100079005	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:100079005G>T	ENST00000258428.3	-	3	362	c.134C>A	c.(133-135)tCa>tAa	p.S45*	REV1_ENST00000393445.3_Nonsense_Mutation_p.S45*	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	45	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)	p.S45*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AATTGTAGATGAAGTCCCATC	0.378								Direct reversal of damage																															uc002tad.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(133-135)TCA>TAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	REV1-like isoform 1							125.0	115.0	118.0					2																	100079005		2203	4300	6503	SO:0001587	stop_gained	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100079005G>T	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.134C>A	2.37:g.100079005G>T	ENSP00000258428:p.Ser45*					REV1_uc002tac.2_Nonsense_Mutation_p.S45*|REV1_uc002tae.1_Nonsense_Mutation_p.S24*	p.S45*	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN			3	346	-			45			BRCT.		O95941|Q53SI7|Q9C0J4|Q9NUP2	Nonsense_Mutation	SNP	ENST00000258428.3	37	c.134C>A	CCDS2045.1	.	.	.	.	.	.	.	.	.	.	G	37	6.476127	0.97598	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	.	.	.	5.63	5.63	0.86233	.	0.308667	0.36374	N	0.002621	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4568	0.90724	0.0:0.0:1.0:0.0	.	.	.	.	X	45	.	ENSP00000258428:S45X	S	-	2	0	REV1	99445437	1.000000	0.71417	0.070000	0.20053	0.984000	0.73092	3.114000	0.50383	2.642000	0.89623	0.655000	0.94253	TCA		0.378	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		44	84	1	0	1.62957e-23	0.00874	2.013e-23	44	84				
RAB6C	84084	broad.mit.edu	37	2	130738393	130738393	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:130738393C>A	ENST00000410061.2	+	1	1159	c.705C>A	c.(703-705)aaC>aaA	p.N235K	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	235					cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TTGGCTTGAACCTTTTCCCTT	0.448																																							uc002tpx.1		NA																	0				lung(1)	1						c.(703-705)AAC>AAA		RAB6C, member RAS oncogene family							43.0	47.0	46.0					2																	130738393		2064	4227	6291	SO:0001583	missense	84084				protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity	g.chr2:130738393C>A	AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.705C>A	2.37:g.130738393C>A	ENSP00000387307:p.Asn235Lys					uc002tpw.1_5'Flank	p.N235K	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN			1	1159	+	Colorectal(110;0.1)		235					Q53RU3|Q6FIF7|Q9P128	Missense_Mutation	SNP	ENST00000410061.2	37	c.705C>A	CCDS46408.1	.	.	.	.	.	.	.	.	.	.	c	10.49	1.363764	0.24684	.	.	ENSG00000222014	ENST00000410061	T	0.68624	-0.34	0.49	0.49	0.16861	.	.	.	.	.	T	0.47469	0.1447	N	0.08118	0	0.19575	N	0.999965	P	0.39094	0.659	B	0.42959	0.403	T	0.43228	-0.9404	8	0.87932	D	0	.	.	.	.	.	235	Q9H0N0	RAB6C_HUMAN	K	235	ENSP00000387307:N235K	ENSP00000387307:N235K	N	+	3	2	RAB6C	130454863	1.000000	0.71417	0.957000	0.39632	0.151000	0.21798	0.954000	0.29175	0.519000	0.28406	0.121000	0.15741	AAC		0.448	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144		6	79	1	0	0.00448238	0.004482	0.00495421	6	79				
NMUR1	10316	broad.mit.edu	37	2	232390132	232390132	+	Silent	SNP	G	G	A	rs138820733		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr2:232390132G>A	ENST00000305141.4	-	3	1036	c.903C>T	c.(901-903)gtC>gtT	p.V301V		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	301					activation of phospholipase C activity (GO:0007202)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|chloride transport (GO:0006821)|G-protein coupled receptor signaling pathway (GO:0007186)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|smooth muscle contraction (GO:0006939)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuromedin U receptor activity (GO:0001607)|neuropeptide receptor activity (GO:0008188)	p.V301V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCACGACCAGGACAACTGCAG	0.642																																							uc002vry.3		NA																	1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(1)|pancreas(1)	5						c.(901-903)GTC>GTT		neuromedin U receptor 1		G		1,4403	2.1+/-5.4	0,1,2201	44.0	36.0	38.0		903	-2.4	0.7	2	dbSNP_134	38	0,8598		0,0,4299	no	coding-synonymous	NMUR1	NM_006056.4		0,1,6500	AA,AG,GG		0.0,0.0227,0.0077		301/427	232390132	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	10316				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity	g.chr2:232390132G>A	AF044600	CCDS2486.1	2q37.1	2012-08-08	2004-05-27	2004-05-28	ENSG00000171596	ENSG00000171596		"""GPCR / Class A : Neuromedin U receptors"""	4518	protein-coding gene	gene with protein product		604153	"""G protein-coupled receptor 66"""	GPR66		9782091	Standard	NM_006056		Approved	GPC-R, FM-3, NMU1R	uc002vry.4	Q9HB89	OTTHUMG00000133225	ENST00000305141.4:c.903C>T	2.37:g.232390132G>A							p.V301V	NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	3	1013	-		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)	301			Helical; Name=6; (Potential).		O43664|Q7LDP6|Q8NE20	Silent	SNP	ENST00000305141.4	37	c.903C>T	CCDS2486.1																																																																																				0.642	NMUR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256961.1	NM_006056		12	19	0	0	0	0.003163	0	12	19				
C20orf194	25943	broad.mit.edu	37	20	3278717	3278717	+	Missense_Mutation	SNP	G	G	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:3278717G>C	ENST00000252032.9	-	22	1955	c.1888C>G	c.(1888-1890)Ctt>Gtt	p.L630V	C20orf194_ENST00000453730.2_Missense_Mutation_p.L368V|C20orf194_ENST00000498079.1_5'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	630								p.L630V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TTGGGGAAAAGGGCAATCATC	0.388																																							uc002wii.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1888-1890)CTT>GTT		hypothetical protein LOC25943							147.0	138.0	141.0					20																	3278717		1894	4125	6019	SO:0001583	missense	25943							g.chr20:3278717G>C	AL110249	CCDS42851.1	20p13	2012-10-30			ENSG00000088854	ENSG00000088854			17721	protein-coding gene	gene with protein product		614146					Standard	NM_001009984		Approved	DKFZp434N061	uc002wii.3	Q5TEA3	OTTHUMG00000031742	ENST00000252032.9:c.1888C>G	20.37:g.3278717G>C	ENSP00000252032:p.Leu630Val					C20orf194_uc002wij.3_Missense_Mutation_p.L369V|C20orf194_uc002wik.2_Missense_Mutation_p.L304V	p.L630V	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN			22	1939	-			630					Q66K86|Q6P2R9|Q9UFX9	Missense_Mutation	SNP	ENST00000252032.9	37	c.1888C>G	CCDS42851.1	.	.	.	.	.	.	.	.	.	.	G	15.08	2.726829	0.48833	.	.	ENSG00000088854	ENST00000252032;ENST00000453730	T;T	0.44881	1.75;0.91	5.65	3.68	0.42216	.	0.064364	0.64402	D	0.000005	T	0.57431	0.2053	M	0.63843	1.955	0.52501	D	0.99995	D;D	0.71674	0.998;0.998	D;D	0.77557	0.99;0.99	T	0.57171	-0.7857	10	0.44086	T	0.13	.	10.6279	0.45519	0.1619:0.0:0.8381:0.0	.	369;630	Q0IIP3;Q5TEA3	.;CT194_HUMAN	V	630;368	ENSP00000252032:L630V;ENSP00000407229:L368V	ENSP00000252032:L630V	L	-	1	0	C20orf194	3226717	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	3.350000	0.52224	1.536000	0.49237	-0.251000	0.11542	CTT		0.388	C20orf194-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077734.1	NM_001009984		41	73	0	0	0	0.011902	0	41	73				
XKR7	343702	broad.mit.edu	37	20	30584388	30584388	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr20:30584388G>A	ENST00000562532.2	+	3	1042	c.868G>A	c.(868-870)Gac>Aac	p.D290N		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	290						integral component of membrane (GO:0016021)		p.D290N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTCGCGGGACGACAAGCGGCC	0.697																																							uc002wxe.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(868-870)GAC>AAC		XK, Kell blood group complex subunit-related							31.0	32.0	32.0					20																	30584388		2203	4300	6503	SO:0001583	missense	343702					integral to membrane		g.chr20:30584388G>A	AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.868G>A	20.37:g.30584388G>A	ENSP00000477059:p.Asp290Asn						p.D290N	NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		3	1042	+			290					Q9NUG5	Missense_Mutation	SNP	ENST00000562532.2	37	c.868G>A	CCDS33459.1	.	.	.	.	.	.	.	.	.	.	g	29.5	5.012048	0.93346	.	.	ENSG00000101321	ENST00000217299	T	0.72394	-0.65	5.04	5.04	0.67666	.	0.047484	0.85682	D	0.000000	T	0.79678	0.4487	M	0.77616	2.38	0.80722	D	1	D	0.59767	0.986	P	0.52514	0.701	T	0.81797	-0.0768	10	0.48119	T	0.1	.	17.3663	0.87365	0.0:0.0:1.0:0.0	.	290	Q5GH72	XKR7_HUMAN	N	290	ENSP00000217299:D290N	ENSP00000217299:D290N	D	+	1	0	XKR7	30048049	1.000000	0.71417	0.948000	0.38648	0.916000	0.54674	9.859000	0.99545	2.350000	0.79820	0.556000	0.70494	GAC		0.697	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078597.3	NM_001011718		12	17	0	0	0	0.010729	0	12	17				
LPP	4026	broad.mit.edu	37	3	188477903	188477903	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr3:188477903C>T	ENST00000312675.4	+	8	1489	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	LPP_ENST00000471917.1_3'UTR|LPP_ENST00000543006.1_Missense_Mutation_p.R415C	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	415	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.R415C(1)	HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		TTTTCCAGGCCGCTGTGCTCG	0.483			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""																																		uc003frs.1		NA		Dom	yes		3	3q28	4026	T	LIM domain containing preferred translocation partner in lipoma			"""L, M"""	HMGA2|MLL|C12orf9		lipoma|leukemia	HMGA2/LPP(161)	1	Substitution - Missense(1)		lung(1)	soft_tissue(134)|bone(27)|lung(2)|ovary(1)|breast(1)	165						c.(1243-1245)CGC>TGC		LIM domain containing preferred translocation							79.0	71.0	74.0					3																	188477903		2203	4300	6503	SO:0001583	missense	4026				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding	g.chr3:188477903C>T	AL833171	CCDS3291.1	3q27-q28	2004-03-02	2002-01-14		ENSG00000145012	ENSG00000145012			6679	protein-coding gene	gene with protein product		600700	"""LIM domain-containing preferred translocation partner in lipoma"""			8812423	Standard	XM_005247453		Approved		uc003frs.2	Q93052	OTTHUMG00000156387	ENST00000312675.4:c.1243C>T	3.37:g.188477903C>T	ENSP00000318089:p.Arg415Cys					LPP_uc011bsg.1_Missense_Mutation_p.R268C|LPP_uc011bsi.1_Missense_Mutation_p.R415C|LPP_uc011bsj.1_Missense_Mutation_p.R252C	p.R415C	NM_005578	NP_005569	Q93052	LPP_HUMAN		GBM - Glioblastoma multiforme(93;0.00602)	8	1489	+	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)	415			LIM zinc-binding 1.		A1L4L6|D3DNV6|Q8NFX5	Missense_Mutation	SNP	ENST00000312675.4	37	c.1243C>T	CCDS3291.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867912	0.91587	.	.	ENSG00000145012	ENST00000312675;ENST00000543006	T;T	0.58797	0.31;0.31	5.96	5.96	0.96718	Zinc finger, LIM-type (3);	0.047034	0.85682	D	0.000000	T	0.70736	0.3258	L	0.47716	1.5	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.69654	0.965;0.872	T	0.65990	-0.6034	10	0.37606	T	0.19	.	19.4101	0.94667	0.0:1.0:0.0:0.0	.	268;415	B7Z8W0;Q93052	.;LPP_HUMAN	C	415	ENSP00000318089:R415C;ENSP00000438891:R415C	ENSP00000318089:R415C	R	+	1	0	LPP	189960597	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.895000	0.69814	2.832000	0.97577	0.655000	0.94253	CGC		0.483	LPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344030.1	NM_005578		9	29	0	0	0	0.010729	0	9	29				
ADH4	127	broad.mit.edu	37	4	100062801	100062802	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:100062801_100062802GG>TT	ENST00000265512.7	-	3	226_227	c.152_153CC>AA	c.(151-153)gCC>gAA	p.A51E	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000508393.1_Missense_Mutation_p.A70E|ADH4_ENST00000423445.1_Missense_Mutation_p.A70E|ADH4_ENST00000505590.1_Missense_Mutation_p.A70E	NM_000670.3	NP_000661.2	P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	51					alcohol catabolic process (GO:0046164)|alcohol metabolic process (GO:0006066)|cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|quinone metabolic process (GO:1901661)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|all-trans retinal binding (GO:0005503)|benzaldehyde dehydrogenase activity (GO:0019115)|ethanol binding (GO:0035276)|NAD binding (GO:0051287)|NADPH:quinone reductase activity (GO:0003960)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)	p.A51E(1)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)		CGATAACAGTGGCATCAGTATG	0.441																																							uc003hun.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(151-153)GCC>GAA		class II alcohol dehydrogenase, pi subunit	NADH(DB00157)																																			SO:0001583	missense	127				alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	g.chr4:100062801_100062802GG>TT	M15943	CCDS34032.1	4q22	2008-02-05				ENSG00000198099	1.1.1.1	"""Alcohol dehydrogenases"""	252	protein-coding gene	gene with protein product		103740					Standard	NM_000670		Approved	ADH-2	uc003hun.3	P08319		ENST00000265512.7:c.152_153delinsTT	4.37:g.100062801_100062802delinsTT	ENSP00000265512:p.Ala51Glu					uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.A70E	p.A51E	NM_000670	NP_000661	P08319	ADH4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	3	228_229	-			51					A8K470|B4DIE7|C9J4A9|Q8TCD7	Missense_Mutation	DNP	ENST00000265512.7	37	c.152_153CC>AA	CCDS34032.1																																																																																				0.441	ADH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364220.2	NM_000670		7	61	0	0	0	0.004672	0	7	61				
MND1	84057	broad.mit.edu	37	4	154318419	154318419	+	Missense_Mutation	SNP	A	A	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr4:154318419A>T	ENST00000504860.1	+	5	398	c.355A>T	c.(355-357)Agg>Tgg	p.R119W	MND1_ENST00000240488.3_Missense_Mutation_p.R134W					meiotic nuclear divisions 1 homolog (S. cerevisiae)									p.R134W(1)		large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TCGAGACCAAAGGGAACAGCT	0.378																																							uc003ink.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(400-402)AGG>TGG		GAJ protein							84.0	82.0	83.0					4																	154318419		2203	4300	6503	SO:0001583	missense	84057				DNA recombination|meiosis	nucleus	DNA binding	g.chr4:154318419A>T	AY028916	CCDS3782.1, CCDS75202.1	4q31.3	2008-02-05			ENSG00000121211	ENSG00000121211			24839	protein-coding gene	gene with protein product		611422				11940665	Standard	NM_032117		Approved	GAJ	uc003ink.2	Q9BWT6	OTTHUMG00000161523	ENST00000504860.1:c.355A>T	4.37:g.154318419A>T	ENSP00000422933:p.Arg119Trp						p.R134W	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN			6	489	+	all_hematologic(180;0.093)		134			Potential.			Missense_Mutation	SNP	ENST00000504860.1	37	c.400A>T		.	.	.	.	.	.	.	.	.	.	A	20.2	3.958493	0.74016	.	.	ENSG00000121211	ENST00000240488;ENST00000504860	.	.	.	5.44	2.94	0.34122	.	0.184072	0.56097	D	0.000028	T	0.69305	0.3096	M	0.76574	2.34	0.33423	D	0.580088	P	0.46656	0.882	P	0.58331	0.837	T	0.75354	-0.3347	9	0.38643	T	0.18	-13.4192	11.1698	0.48565	0.7788:0.2212:0.0:0.0	.	134	Q9BWT6	MND1_HUMAN	W	134;119	.	ENSP00000240488:R134W	R	+	1	2	MND1	154537869	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	4.503000	0.60407	0.411000	0.25702	0.454000	0.30748	AGG		0.378	MND1-002	PUTATIVE	alternative_5_UTR|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365195.1	NM_032117		7	22	0	0	0	0.006214	0	7	22				
CDH9	1007	broad.mit.edu	37	5	26903857	26903857	+	Silent	SNP	G	G	A	rs373803020		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:26903857G>A	ENST00000231021.4	-	6	1060	c.888C>T	c.(886-888)gaC>gaT	p.D296D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	296	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D296D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTCCCCCACGTCAGGGTCAT	0.408																																					Melanoma(8;187 585 15745 40864 52829)	Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(886-888)GAC>GAT		cadherin 9, type 2 preproprotein		G		1,4405	2.1+/-5.4	0,1,2202	227.0	198.0	208.0		888	-2.6	0.3	5		208	0,8598		0,0,4299	no	coding-synonymous	CDH9	NM_016279.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		296/790	26903857	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26903857G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.888C>T	5.37:g.26903857G>A						CDH9_uc010iug.2_Silent_p.D296D	p.D296D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			6	1057	-			296			Cadherin 3.|Extracellular (Potential).		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.888C>T	CCDS3893.1																																																																																				0.408	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		64	164	0	0	0	0.01441	0	64	164				
RFESD	317671	broad.mit.edu	37	5	94991871	94991871	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:94991871G>A	ENST00000311364.4	+	5	1749	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	RFESD_ENST00000513950.2_3'UTR|RFESD_ENST00000458310.1_Missense_Mutation_p.C164Y|RFESD_ENST00000380005.4_Missense_Mutation_p.C164Y|SPATA9_ENST00000477047.2_Intron	NM_173362.3	NP_775498.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	111	Rieske 2. {ECO:0000255|PROSITE- ProRule:PRU00628}.						2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)	p.C111Y(1)|p.C164Y(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CCCAAGTGGTGCTCCAAAGGA	0.383																																							uc003klf.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(331-333)TGC>TAC		Rieske (Fe-S) domain containing isoform 2							83.0	82.0	82.0					5																	94991871		2203	4300	6503	SO:0001583	missense	317671						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	g.chr5:94991871G>A	BC035110	CCDS4075.1, CCDS47248.1	5q15	2010-12-07			ENSG00000175449	ENSG00000175449			29587	protein-coding gene	gene with protein product						12477932	Standard	NM_173362		Approved		uc003klg.3	Q8TAC1	OTTHUMG00000121168	ENST00000311364.4:c.332G>A	5.37:g.94991871G>A	ENSP00000309229:p.Cys111Tyr					RFESD_uc003klg.2_Missense_Mutation_p.C164Y|RFESD_uc011cun.1_Missense_Mutation_p.C164Y|SPATA9_uc010jbh.1_Intron|SPATA9_uc003klh.1_Intron|SPATA9_uc003kli.1_Intron	p.C111Y	NM_173362	NP_775498	Q8TAC1	RFESD_HUMAN		all cancers(79;5.94e-17)	5	1724	+		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)	111			Rieske 2.		J3KPH1	Missense_Mutation	SNP	ENST00000311364.4	37	c.332G>A	CCDS4075.1	.	.	.	.	.	.	.	.	.	.	G	8.237	0.805942	0.16467	.	.	ENSG00000175449	ENST00000511684;ENST00000380005;ENST00000311364;ENST00000458310	.	.	.	5.59	5.59	0.84812	Rieske [2Fe-2S] iron-sulphur domain (3);	0.433522	0.30011	N	0.010629	T	0.33789	0.0875	N	0.11927	0.2	0.80722	D	1	D;P	0.59767	0.986;0.872	P;B	0.53689	0.732;0.427	T	0.34976	-0.9807	9	0.02654	T	1	-7.9192	8.8484	0.35184	0.0768:0.0:0.7726:0.1506	.	111;111	D6RBY0;Q8TAC1	.;RFESD_HUMAN	Y	111;164;111;164	.	ENSP00000309229:C111Y	C	+	2	0	RFESD	95017627	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.629000	0.37071	2.640000	0.89533	0.467000	0.42956	TGC		0.383	RFESD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241654.1	NM_173362		38	15	0	0	0	0.00874	0	38	15				
NKX2-5	1482	broad.mit.edu	37	5	172661900	172661900	+	Missense_Mutation	SNP	C	C	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr5:172661900C>A	ENST00000329198.4	-	1	460	c.187G>T	c.(187-189)Gcg>Tcg	p.A63S	NKX2-5_ENST00000521848.1_Missense_Mutation_p.A63S|NKX2-5_ENST00000424406.2_Missense_Mutation_p.A63S	NM_001166175.1|NM_001166176.1|NM_004387.3	NP_001159647.1|NP_001159648.1|NP_004378.1	P52952	NKX25_HUMAN	NK2 homeobox 5	63	Ala/Pro-rich.		A -> V (in ASD7). {ECO:0000269|PubMed:14607454, ECO:0000269|PubMed:15810002}.		adult heart development (GO:0007512)|apoptotic process involved in heart morphogenesis (GO:0003278)|atrial cardiac muscle cell development (GO:0055014)|atrial septum morphogenesis (GO:0060413)|atrioventricular node cell development (GO:0060928)|atrioventricular node cell fate commitment (GO:0060929)|BMP signaling pathway (GO:0030509)|bundle of His development (GO:0003166)|canonical Wnt signaling pathway (GO:0060070)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac ventricle formation (GO:0003211)|cell differentiation (GO:0030154)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|hemopoiesis (GO:0030097)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|pharyngeal system development (GO:0060037)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart contraction (GO:0045823)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription via serum response element binding (GO:0010735)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of voltage-gated calcium channel activity (GO:1901387)|proepicardium development (GO:0003342)|pulmonary myocardium development (GO:0003350)|Purkinje myocyte differentiation (GO:0003168)|regulation of cardiac muscle cell proliferation (GO:0060043)|regulation of cardiac muscle contraction (GO:0055117)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|sarcomere organization (GO:0045214)|septum secundum development (GO:0003285)|spleen development (GO:0048536)|thyroid gland development (GO:0030878)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|serum response element binding (GO:0010736)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A63S(1)		breast(1)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)	12	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGCCCGGCGCAGCCGCCTCG	0.741																																					Esophageal Squamous(72;810 1219 2387 13420 44943)	Esophageal Squamous(72;810 1219 2387 13420 44943)	uc003mcm.1		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(187-189)GCG>TCG		NK2 transcription factor related, locus 5							7.0	10.0	9.0					5																	172661900		2090	4084	6174	SO:0001583	missense	1482				adult heart development|atrial cardiac muscle cell development|atrial septum morphogenesis|heart looping|hemopoiesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell apoptosis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|outflow tract septum morphogenesis|pharyngeal system development|positive regulation of calcium ion transport via voltage-gated calcium channel activity|positive regulation of cardioblast differentiation|positive regulation of cell proliferation|positive regulation of heart contraction|positive regulation of neuron differentiation|positive regulation of sodium ion transport|positive regulation of survival gene product expression|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of cardiac muscle contraction|right ventricular cardiac muscle tissue morphogenesis|septum secundum development|spleen development|thyroid gland development|vasculogenesis|ventricular septum morphogenesis		chromatin binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding	g.chr5:172661900C>A	AB021133	CCDS4387.1, CCDS54949.1, CCDS54950.1	5q34	2014-09-17	2011-06-01	2002-10-04	ENSG00000183072	ENSG00000183072		"""Homeoboxes / ANTP class : NKL subclass"""	2488	protein-coding gene	gene with protein product	"""tinman paralog (Drosophila)"""	600584	"""cardiac-specific homeo box"", ""NK2 transcription factor related, locus 5 (Drosophila)"""	CSX, NKX2E		7665173, 8900537	Standard	NM_004387		Approved	CSX1, NKX2.5, NKX4-1	uc003mcm.2	P52952	OTTHUMG00000130522	ENST00000329198.4:c.187G>T	5.37:g.172661900C>A	ENSP00000327758:p.Ala63Ser					NKX2-5_uc011dfe.1_Missense_Mutation_p.A63S|NKX2-5_uc010jjt.1_Missense_Mutation_p.A63S	p.A63S	NM_004387	NP_004378	P52952	NKX25_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	363	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	63		A -> V (in ASD-AVCD).	Ala/Pro-rich.		A8K3K0|B4DNB6|E9PBU6	Missense_Mutation	SNP	ENST00000329198.4	37	c.187G>T	CCDS4387.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.088990	0.55968	.	.	ENSG00000183072	ENST00000329198;ENST00000424406;ENST00000521848;ENST00000517440	D;D;D;D	0.90504	-2.66;-2.53;-2.68;-2.61	4.46	4.46	0.54185	.	0.173062	0.27841	N	0.017638	T	0.81312	0.4796	N	0.14661	0.345	0.09310	N	1	P;B;B	0.37101	0.582;0.123;0.015	B;B;B	0.38803	0.282;0.092;0.004	T	0.70241	-0.4926	10	0.15066	T	0.55	.	11.6543	0.51309	0.0:0.8044:0.1955:0.0	.	63;63;63	B4DNB6;E5RH49;P52952	.;.;NKX25_HUMAN	S	63	ENSP00000327758:A63S;ENSP00000395378:A63S;ENSP00000427906:A63S;ENSP00000429905:A63S	ENSP00000327758:A63S	A	-	1	0	NKX2-5	172594506	0.035000	0.19736	0.868000	0.34077	0.888000	0.51559	0.664000	0.25068	2.413000	0.81919	0.313000	0.20887	GCG		0.741	NKX2-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252942.2			7	1	1	0	7.48243e-07	0.006214	8.7295e-07	7	1				
SLC22A7	10864	broad.mit.edu	37	6	43266308	43266308	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:43266308G>A	ENST00000372585.5	+	1	307	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SLC22A7_ENST00000487175.1_Intron|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R71Q|SLC22A7_ENST00000372574.3_Missense_Mutation_p.R71Q	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	71					organic anion transport (GO:0015711)|response to stilbenoid (GO:0035634)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.R71Q(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		Acetylsalicylic acid(DB00945)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cimetidine(DB00501)|Clarithromycin(DB01211)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Docetaxel(DB01248)|Enalapril(DB00584)|Erythromycin(DB00199)|Fluorouracil(DB00544)|Ganciclovir(DB01004)|Glyburide(DB01016)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Oxtriphylline(DB01303)|Oxytetracycline(DB00595)|Pravastatin(DB00175)|Probenecid(DB01032)|Rifampicin(DB01045)|Salicylic acid(DB00936)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Valproic Acid(DB00313)|Zalcitabine(DB00943)|Zidovudine(DB00495)	CATCTTCCCCGGGAGCCTGAT	0.662																																							uc003out.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(211-213)CGG>CAG		solute carrier family 22 member 7 isoform b							45.0	42.0	43.0					6																	43266308		2203	4300	6503	SO:0001583	missense	10864					basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	g.chr6:43266308G>A	AF097518	CCDS4892.1, CCDS4893.2	6p21.1	2013-05-22			ENSG00000137204	ENSG00000137204		"""Solute carriers"""	10971	protein-coding gene	gene with protein product		604995				9650585, 10773670	Standard	XM_006714970		Approved	NLT, OAT2	uc003out.3	Q9Y694	OTTHUMG00000014726	ENST00000372585.5:c.212G>A	6.37:g.43266308G>A	ENSP00000361666:p.Arg71Gln					SLC22A7_uc010jyl.1_Missense_Mutation_p.R71Q|SLC22A7_uc003ous.2_Missense_Mutation_p.R71Q	p.R71Q	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		1	311	+			71					B2CZX6|Q5T046|Q5T048|Q5T050|Q9H2W5	Missense_Mutation	SNP	ENST00000372585.5	37	c.212G>A	CCDS4893.2	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802760	0.31869	.	.	ENSG00000137204	ENST00000449231;ENST00000372589;ENST00000372585;ENST00000372574	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.63	0.872	0.19113	.	0.276047	0.36409	N	0.002603	T	0.19927	0.0479	L	0.54965	1.715	0.32425	N	0.548843	B;P;P	0.37233	0.452;0.588;0.588	B;B;B	0.36030	0.107;0.216;0.216	T	0.06752	-1.0809	10	0.27785	T	0.31	.	8.7559	0.34645	0.4671:0.0:0.5329:0.0	.	71;71;71	Q9Y694;Q9Y694-2;Q9Y694-3	S22A7_HUMAN;.;.	Q	71	ENSP00000411818:R71Q;ENSP00000361670:R71Q;ENSP00000361666:R71Q;ENSP00000361655:R71Q	ENSP00000361655:R71Q	R	+	2	0	SLC22A7	43374286	0.000000	0.05858	0.848000	0.33437	0.486000	0.33341	-0.458000	0.06737	-0.127000	0.11661	-0.253000	0.11424	CGG		0.662	SLC22A7-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040588.1			8	22	0	0	0	0.00308	0	8	22				
MAP3K7	6885	broad.mit.edu	37	6	91260267	91260267	+	Splice_Site	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr6:91260267T>C	ENST00000369329.3	-	9	1030	c.869A>G	c.(868-870)tAc>tGc	p.Y290C	MAP3K7_ENST00000369320.1_5'UTR|MAP3K7_ENST00000369332.3_Splice_Site_p.Y290C|MAP3K7_ENST00000369325.3_Splice_Site_p.Y290C|MAP3K7_ENST00000369327.3_Splice_Site_p.Y290C	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	290	Interaction with MAPK8IP1. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)	p.Y290C(2)		endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TCCTGGAAAGTACTATATATA	0.328																																							uc003pnz.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(868-870)TAC>TGC		mitogen-activated protein kinase kinase kinase 7							73.0	72.0	72.0					6																	91260267		2203	4300	6503	SO:0001630	splice_region_variant	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91260267T>C	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.868-1A>G	6.37:g.91260267T>C						MAP3K7_uc003poa.1_Missense_Mutation_p.Y290C|MAP3K7_uc003pob.1_Missense_Mutation_p.Y290C|MAP3K7_uc003poc.1_Missense_Mutation_p.Y290C	p.Y290C	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	9	1031	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	290			Protein kinase.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Missense_Mutation	SNP	ENST00000369329.3	37	c.869A>G	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.174322	0.57692	.	.	ENSG00000135341	ENST00000369332;ENST00000369329;ENST00000369325;ENST00000369327;ENST00000450832	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	5.87	5.87	0.94306	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	L	0.42245	1.32	0.80722	D	1	B;B;B;B	0.28667	0.219;0.067;0.186;0.151	B;B;B;B	0.30646	0.118;0.076;0.117;0.055	T	0.04386	-1.0955	10	0.42905	T	0.14	.	15.9365	0.79712	0.0:0.0:0.0:1.0	.	290;290;290;290	O43318-4;O43318-2;O43318-3;O43318	.;.;.;M3K7_HUMAN	C	290;290;290;290;217	ENSP00000358338:Y290C;ENSP00000358335:Y290C;ENSP00000358331:Y290C;ENSP00000358333:Y290C	ENSP00000358331:Y290C	Y	-	2	0	MAP3K7	91316988	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.138000	0.71717	2.239000	0.73571	0.528000	0.53228	TAC		0.328	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331	Missense_Mutation	18	46	0	0	0	0.007413	0	18	46				
CLN8	2055	broad.mit.edu	37	8	1719548	1719548	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:1719548G>A	ENST00000331222.4	+	2	575	c.328G>A	c.(328-330)Gca>Aca	p.A110T		NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	110	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				adult walking behavior (GO:0007628)|age-dependent response to oxidative stress (GO:0001306)|associative learning (GO:0008306)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|ceramide biosynthetic process (GO:0046513)|ceramide metabolic process (GO:0006672)|cholesterol metabolic process (GO:0008203)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|lipid biosynthetic process (GO:0008610)|lipid transport (GO:0006869)|lysosome organization (GO:0007040)|mitochondrial membrane organization (GO:0007006)|musculoskeletal movement (GO:0050881)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteolysis (GO:0045861)|negative regulation of transferase activity (GO:0051348)|nervous system development (GO:0007399)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|phospholipid metabolic process (GO:0006644)|photoreceptor cell maintenance (GO:0045494)|protein catabolic process (GO:0030163)|regulation of cell size (GO:0008361)|retina development in camera-type eye (GO:0060041)|social behavior (GO:0035176)|somatic motor neuron differentiation (GO:0021523)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.A110T(2)		central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CATCACGACAGCAACGGGATT	0.542																																					Pancreas(155;338 1942 6138 10888 50612)	Pancreas(155;338 1942 6138 10888 50612)	uc003wpo.3		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(328-330)GCA>ACA		ceroid-lipofuscinosis, neuronal 8							161.0	149.0	153.0					8																	1719548		2203	4300	6503	SO:0001583	missense	2055				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane		g.chr8:1719548G>A	AF123761	CCDS5956.1	8p23.3	2014-09-17			ENSG00000182372	ENSG00000182372			2079	protein-coding gene	gene with protein product		607837	"""chromosome 8 open reading frame 61"""	EPMR, C8orf61		10508524	Standard	NM_018941		Approved	FLJ39417	uc003wpo.4	Q9UBY8	OTTHUMG00000090343	ENST00000331222.4:c.328G>A	8.37:g.1719548G>A	ENSP00000328182:p.Ala110Thr						p.A110T	NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)	2	633	+		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)	110			TLC.|Helical; (Potential).		Q86U71|Q96I95	Missense_Mutation	SNP	ENST00000331222.4	37	c.328G>A	CCDS5956.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472201	0.43942	.	.	ENSG00000182372	ENST00000331222	D	0.86432	-2.12	5.06	5.06	0.68205	TRAM/LAG1/CLN8 homology domain (3);	0.000000	0.64402	U	0.000005	D	0.91703	0.7377	L	0.54323	1.7	0.58432	D	0.999997	D	0.89917	1.0	D	0.72075	0.976	D	0.90981	0.4827	9	.	.	.	-3.6945	18.4221	0.90594	0.0:0.0:1.0:0.0	.	110	Q9UBY8	CLN8_HUMAN	T	110	ENSP00000328182:A110T	.	A	+	1	0	CLN8	1706955	1.000000	0.71417	0.178000	0.23040	0.016000	0.09150	6.027000	0.70881	2.329000	0.79093	0.455000	0.32223	GCA		0.542	CLN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206715.2	NM_018941		3	90	0	0	0	0.004672	0	3	90				
HGSNAT	138050	broad.mit.edu	37	8	43025814	43025814	+	Silent	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:43025814C>T	ENST00000458501.2	+	7	804	c.804C>T	c.(802-804)ctC>ctT	p.L268L	HGSNAT_ENST00000379644.4_Silent_p.L240L			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	268					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)	p.L268L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CGCCCCGCCTCCGCAGCGTGG	0.562																																							uc003xpx.3		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CTC>CTT		heparan-alpha-glucosaminide N-acetyltransferase							26.0	29.0	28.0					8																	43025814		2042	4187	6229	SO:0001819	synonymous_variant	138050				lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity	g.chr8:43025814C>T		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.804C>T	8.37:g.43025814C>T							p.L240L	NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		7	768	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	268			Cytoplasmic (Potential).		B4E2V0	Silent	SNP	ENST00000458501.2	37	c.720C>T																																																																																					0.562	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038		6	8	0	0	0	0.00308	0	6	8				
LRP12	29967	broad.mit.edu	37	8	105510147	105510147	+	Silent	SNP	A	A	G			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:105510147A>G	ENST00000276654.5	-	5	741	c.633T>C	c.(631-633)gcT>gcC	p.A211A	LRP12_ENST00000424843.2_Silent_p.A192A|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	211					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.A211A(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			AGGGTTGAAAAGCAGCAGCAG	0.423																																							uc003yma.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(631-633)GCT>GCC		low density lipoprotein-related protein 12							197.0	176.0	183.0					8																	105510147		2203	4300	6503	SO:0001819	synonymous_variant	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105510147A>G	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.633T>C	8.37:g.105510147A>G						LRP12_uc003ymb.2_Silent_p.A192A|LRP12_uc003ylz.2_5'Flank	p.A211A	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	728	-			211			Extracellular (Potential).		A8K137|B4DRQ2	Silent	SNP	ENST00000276654.5	37	c.633T>C	CCDS6303.1																																																																																				0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		3	176	0	0	0	0.014758	0	3	176				
SYBU	55638	broad.mit.edu	37	8	110588223	110588223	+	Missense_Mutation	SNP	G	G	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr8:110588223G>A	ENST00000422135.1	-	8	1419	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	SYBU_ENST00000529690.1_Missense_Mutation_p.L172F|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000529175.1_Missense_Mutation_p.L96F|SYBU_ENST00000276646.9_Missense_Mutation_p.L302F|SYBU_ENST00000433638.1_Missense_Mutation_p.L302F|SYBU_ENST00000408889.3_Missense_Mutation_p.L183F|SYBU_ENST00000532779.1_Missense_Mutation_p.L234F|SYBU_ENST00000533065.1_Missense_Mutation_p.L183F|SYBU_ENST00000424158.2_Missense_Mutation_p.L307F|SYBU_ENST00000528647.1_Missense_Mutation_p.L301F|SYBU_ENST00000528331.1_Missense_Mutation_p.L183F|SYBU_ENST00000533895.1_Missense_Mutation_p.L301F|SYBU_ENST00000533171.1_Missense_Mutation_p.L302F|SYBU_ENST00000399066.3_Missense_Mutation_p.L299F|SYBU_ENST00000446070.2_Missense_Mutation_p.L301F|SYBU_ENST00000419099.1_Missense_Mutation_p.L301F|SYBU_ENST00000440310.1_Missense_Mutation_p.L302F|SYBU_ENST00000408908.2_Missense_Mutation_p.L302F	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	302	Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.L299F(1)		NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TGGGACTTAAGCTCCACGATT	0.443																																							uc003ynj.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(904-906)CTT>TTT		Golgi-localized syntaphilin-related protein							48.0	47.0	47.0					8																	110588223		1965	4194	6159	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588223G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.904C>T	8.37:g.110588223G>A	ENSP00000407118:p.Leu302Phe					SYBU_uc003yni.3_Missense_Mutation_p.L299F|SYBU_uc003ynk.3_Missense_Mutation_p.L183F|SYBU_uc010mco.2_Missense_Mutation_p.L301F|SYBU_uc003ynl.3_Missense_Mutation_p.L301F|SYBU_uc010mcp.2_Missense_Mutation_p.L302F|SYBU_uc010mcq.2_Missense_Mutation_p.L302F|SYBU_uc003yno.3_Missense_Mutation_p.L183F|SYBU_uc010mcr.2_Missense_Mutation_p.L302F|SYBU_uc003ynm.3_Missense_Mutation_p.L301F|SYBU_uc003ynn.3_Missense_Mutation_p.L301F|SYBU_uc010mcs.2_Missense_Mutation_p.L183F|SYBU_uc010mct.2_Missense_Mutation_p.L302F|SYBU_uc010mcu.2_Missense_Mutation_p.L301F|SYBU_uc003ynp.3_Missense_Mutation_p.L234F|SYBU_uc010mcv.2_Missense_Mutation_p.L302F|SYBU_uc003ynh.3_Missense_Mutation_p.L96F|SYBU_uc011lhw.1_Missense_Mutation_p.L172F	p.L302F	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			7	1067	-			302			Potential.|Sufficient for interaction with KIF5B.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.904C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947365	0.73672	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.79155	0.4398	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	T	0.81127	-0.1074	9	0.87932	D	0	-22.4342	12.5522	0.56233	0.0752:0.0:0.9248:0.0	.	172;234;301;302;299	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	F	301;307;234;299;301;183;96;302;301;302;301;302;302;302;183;183;172;302;139	.	ENSP00000276646:L302F	L	-	1	0	SYBU	110657399	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.738000	0.68613	2.793000	0.96121	0.591000	0.81541	CTT		0.443	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		12	41	0	0	0	0.003163	0	12	41				
RIC1	57589	broad.mit.edu	37	9	5765734	5765734	+	Missense_Mutation	SNP	G	G	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:5765734G>T	ENST00000414202.2	+	21	3264	c.3073G>T	c.(3073-3075)Gtt>Ttt	p.V1025F	KIAA1432_ENST00000251879.6_Missense_Mutation_p.V1025F|KIAA1432_ENST00000449720.2_Missense_Mutation_p.V909F|KIAA1432_ENST00000418622.3_Missense_Mutation_p.V946F|KIAA1432_ENST00000381532.2_Missense_Mutation_p.V946F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGCTGAAAATGTTCCTGCCAG	0.408																																							uc003zji.2		NA																	0					0						c.(2836-2838)GTT>TTT		connexin 43-interacting protein 150 isoform a							113.0	120.0	118.0					9																	5765734		2203	4300	6503	SO:0001583	missense	57589					integral to membrane		g.chr9:5765734G>T																												ENST00000414202.2:c.3073G>T	9.37:g.5765734G>T	ENSP00000416696:p.Val1025Phe					KIAA1432_uc003zjh.2_Missense_Mutation_p.V946F|KIAA1432_uc003zjl.3_Missense_Mutation_p.V909F|KIAA1432_uc003zjj.1_Missense_Mutation_p.V488F|ERMP1_uc011lme.1_RNA	p.V946F	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	2929	+		Acute lymphoblastic leukemia(23;0.154)	1025						Missense_Mutation	SNP	ENST00000414202.2	37	c.2836G>T	CCDS34982.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.436|6.436	0.448497|0.448497	0.12223|0.12223	.|.	.|.	ENSG00000107036|ENSG00000107036	ENST00000545641|ENST00000251879;ENST00000414202;ENST00000381532;ENST00000418622;ENST00000449720	.|.	.|.	.|.	5.93|5.93	3.97|3.97	0.46021|0.46021	.|.	.|0.310631	.|0.34531	.|N	.|0.003881	T|T	0.29223|0.29223	0.0727|0.0727	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.99998|0.99998	.|B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.001	.|B;B;B;B	.|0.08055	.|0.0;0.001;0.001;0.003	T|T	0.12528|0.12528	-1.0544|-1.0544	5|9	.|0.51188	.|T	.|0.08	-14.9011|-14.9011	7.829|7.829	0.29332|0.29332	0.0:0.2592:0.4921:0.2487|0.0:0.2592:0.4921:0.2487	.|.	.|909;946;1025;1025	.|B7ZM67;B2RN24;Q4ADV7;G5E932	.|.;.;RIC1_HUMAN;.	F|F	916|1025;1025;946;946;909	.|.	.|ENSP00000251879:V1025F	C|V	+|+	2|1	0|0	KIAA1432|KIAA1432	5755734|5755734	0.999000|0.999000	0.42202|0.42202	0.919000|0.919000	0.36401|0.36401	0.501000|0.501000	0.33797|0.33797	0.829000|0.829000	0.27449|0.27449	2.814000|2.814000	0.96858|0.96858	0.563000|0.563000	0.77884|0.77884	TGT|GTT		0.408	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			13	113	1	0	2.32078e-09	0.003163	2.75867e-09	13	113				
PTGER4P2	5736	broad.mit.edu	37	9	66499793	66499793	+	IGR	SNP	G	G	A	rs201009452		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:66499793G>A								RP11-262H14.1 (30483 upstream) : RP11-262H14.7 (17412 downstream)																							TGTGCAAGTCGCGCAAGGAGC	0.587																																							uc004aee.1		NA																	0					0						c.(601-603)TCG>TCA		Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																																				SO:0001628	intergenic_variant	442421							g.chr9:66499793G>A																													9.37:g.66499793G>A						LOC442421_uc004aed.1_RNA	p.S201S							1	603	+									Silent	SNP		37	c.603G>A																																																																																				0	0.587									6	68	0	0	0	0.010729	0	6	68				
SPATA31C1	441452	broad.mit.edu	37	9	90535185	90535185	+	RNA	SNP	T	T	C			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:90535185T>C	ENST00000602681.1	+	0	1089							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGCCACACCTTGAAAAAGGTG	0.622																																							uc010mqi.2		NA																	0					0						c.(361-363)CTT>CTC		family with sequence similarity 75, member C1							37.0	46.0	43.0					9																	90535185		692	1590	2282			441452							g.chr9:90535185T>C	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90535185T>C						FAM75C1_uc004apq.3_Silent_p.L104L	p.L121L	NM_001145124	NP_001138596					4	392	+									Silent	SNP	ENST00000602681.1	37	c.363T>C																																																																																					0.622	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124		3	37	0	0	0	0.004672	0	3	37				
PPAPDC3	84814	broad.mit.edu	37	9	134183555	134183555	+	Missense_Mutation	SNP	G	G	A	rs148777558		TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:134183555G>A	ENST00000372264.3	+	2	1001	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_032728.3	NP_116117.3	Q8NBV4	PPAC3_HUMAN	phosphatidic acid phosphatase type 2 domain containing 3	233					negative regulation of myotube differentiation (GO:0010832)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	hydrolase activity (GO:0016787)	p.G233S(1)		breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16	all_hematologic(7;0.0119)			OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)		CGTGATGATCGGCCGCCACCA	0.657													g|||	1	0.000199681	0.0	0.0	5008	,	,		14766	0.0		0.001	False		,,,				2504	0.0						uc004cal.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(697-699)GGC>AGC		phosphatidic acid phosphatase type 2 domain			SER/GLY	1,4405	2.1+/-5.4	0,1,2202	64.0	58.0	60.0		697	4.7	1.0	9	dbSNP_134	60	0,8600		0,0,4300	no	missense	PPAPDC3	NM_032728.3	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	233/272	134183555	1,13005	2203	4300	6503	SO:0001583	missense	84814					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	hydrolase activity	g.chr9:134183555G>A	AK027568	CCDS6942.1	9q34.2-q34.3	2008-02-26	2005-07-15	2005-07-15	ENSG00000160539	ENSG00000160539			28174	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 67"""	C9orf67		12958361	Standard	NM_032728		Approved	MGC12921, FLJ14662, NET39	uc004cal.2	Q8NBV4	OTTHUMG00000020822	ENST00000372264.3:c.697G>A	9.37:g.134183555G>A	ENSP00000361338:p.Gly233Ser						p.G233S	NM_032728	NP_116117	Q8NBV4	PPAC3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173)	2	1001	+	all_hematologic(7;0.0119)		233			Extracellular (Potential).		Q5T6P0|Q96SS7|Q9BRC3	Missense_Mutation	SNP	ENST00000372264.3	37	c.697G>A	CCDS6942.1	.	.	.	.	.	.	.	.	.	.	g	26.3	4.725767	0.89298	2.27E-4	0.0	ENSG00000160539	ENST00000372264	D	0.83837	-1.77	4.67	4.67	0.58626	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92417	0.7593	M	0.92122	3.275	0.80722	D	1	D	0.69078	0.997	P	0.62885	0.908	D	0.94358	0.7585	10	0.72032	D	0.01	-23.1878	16.9749	0.86310	0.0:0.0:1.0:0.0	.	233	Q8NBV4	PPAC3_HUMAN	S	233	ENSP00000361338:G233S	ENSP00000361338:G233S	G	+	1	0	PPAPDC3	133173376	1.000000	0.71417	0.999000	0.59377	0.531000	0.34715	9.288000	0.96055	2.292000	0.77174	0.500000	0.49745	GGC		0.657	PPAPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054724.1	NM_032728		9	20	0	0	0	0.008291	0	9	20				
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A	rs183702666	byFrequency	TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470									tubulin, beta pseudogene 5									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592													.|||	1260	0.251597	0.2526	0.2939	5008	,	,		9939	0.125		0.339	False		,,,				2504	0.2607						uc004com.2		NA																	1	Substitution - Missense(1)		prostate(1)		0						c.(97-99)CGC>CAC		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141070695G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070695G>A						TUBBP5_uc010ncq.2_Silent_p.T210T	p.R33H							4	359	+									Missense_Mutation	SNP	ENST00000503395.1	37	c.98G>A																																																																																					0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	1	0	0	0	0.014758	0	3	1				
TENM1	10178	broad.mit.edu	37	X	123780627	123780627	+	Missense_Mutation	SNP	C	C	T			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:123780627C>T	ENST00000371130.3	-	9	1676	c.1613G>A	c.(1612-1614)gGa>gAa	p.G538E	TENM1_ENST00000422452.2_Missense_Mutation_p.G538E	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	538	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G540E(1)									CTCTCCATTTCCATTGCAATT	0.373																																							uc004euj.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(1612-1614)GGA>GAA		odz, odd Oz/ten-m homolog 1 isoform 3							114.0	86.0	95.0					X																	123780627		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123780627C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1613G>A	X.37:g.123780627C>T	ENSP00000360171:p.Gly538Glu					ODZ1_uc011muj.1_Missense_Mutation_p.G537E|ODZ1_uc010nqy.2_Missense_Mutation_p.G538E	p.G538E	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			9	1677	-			538			Extracellular (Potential).|EGF-like 1.		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.1613G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123148	0.94429	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.33438	1.41;1.41	5.75	5.75	0.90469	EGF, extracellular (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.61451	0.2348	M	0.87180	2.865	0.80722	D	1	D;D;P	0.76494	0.999;0.999;0.884	D;D;P	0.63488	0.915;0.915;0.465	T	0.68318	-0.5440	10	0.72032	D	0.01	.	18.9008	0.92442	0.0:1.0:0.0:0.0	.	537;538;538	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	E	538	ENSP00000360171:G538E;ENSP00000403954:G538E	ENSP00000360171:G538E	G	-	2	0	ODZ1	123608308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.410000	0.81850	0.594000	0.82650	GGA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		16	11	0	0	0	0.004007	0	16	11				
IGSF1	3547	broad.mit.edu	37	X	130416522	130416522	+	Missense_Mutation	SNP	T	T	A			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chrX:130416522T>A	ENST00000361420.3	-	7	1221	c.1142A>T	c.(1141-1143)aAt>aTt	p.N381I	IGSF1_ENST00000370903.3_Missense_Mutation_p.N381I|IGSF1_ENST00000370910.1_Missense_Mutation_p.N372I|IGSF1_ENST00000370904.1_Missense_Mutation_p.N372I			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	381	Ig-like C2-type 4.		N -> H (in dbSNP:rs6637826).		regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.N381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTAGGTTACATTGTTGAGGAA	0.443																																							uc004ewd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(1141-1143)AAT>ATT		immunoglobulin superfamily, member 1 isoform 1							188.0	148.0	162.0					X																	130416522		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130416522T>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1142A>T	X.37:g.130416522T>A	ENSP00000355010:p.Asn381Ile					IGSF1_uc004ewe.3_Missense_Mutation_p.N370I|IGSF1_uc004ewf.2_Missense_Mutation_p.N361I	p.N381I	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			7	1380	-			381			Ig-like C2-type 4.|Extracellular (Potential).		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.1142A>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726321	0.30593	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	4.68	2.29	0.28610	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.556348	0.16852	N	0.196861	T	0.24353	0.0590	M	0.77313	2.365	0.35815	D	0.82415	P;P	0.46457	0.755;0.878	B;P	0.51266	0.347;0.664	T	0.19095	-1.0316	10	0.87932	D	0	.	5.5884	0.17287	0.0:0.2268:0.0:0.7732	.	372;381	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	I	372;381;372;381	ENSP00000359947:N372I;ENSP00000355010:N381I;ENSP00000359941:N372I;ENSP00000359940:N381I	ENSP00000355010:N381I	N	-	2	0	IGSF1	130244203	1.000000	0.71417	0.997000	0.53966	0.143000	0.21401	2.029000	0.41098	0.256000	0.21614	0.481000	0.45027	AAT		0.443	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			45	14	0	0	0	0.01441	0	45	14				
HMGCL	3155	broad.mit.edu	37	1	24151854	24151854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr1:24151854delG	ENST00000374490.3	-	1	95	c.52delC	c.(52-54)ctcfs	p.L18fs	HMGCL_ENST00000436439.2_Frame_Shift_Del_p.L18fs|HMGCL_ENST00000374483.4_Intron|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	18					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		ACAGCCCGGAGGGACGCCAAG	0.697																																							uc001bib.2		NA																	0				central_nervous_system(1)	1						c.(52-54)CTCfs		3-hydroxy-3-methylglutaryl CoA lyase isoform 1							11.0	12.0	12.0					1																	24151854		2103	4087	6190	SO:0001589	frameshift_variant	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24151854delG	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.52delC	1.37:g.24151854delG	ENSP00000363614:p.Leu18fs					HMGCL_uc010oec.1_Frame_Shift_Del_p.L18fs|HMGCL_uc009vqr.2_Frame_Shift_Del_p.L18fs|HMGCL_uc001bic.2_Intron|HMGCL_uc009vqs.1_Frame_Shift_Del_p.L18fs|HMGCL_uc001bid.1_Frame_Shift_Del_p.L18fs	p.L18fs	NM_000191	NP_000182	P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	1	96	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	18					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Frame_Shift_Del	DEL	ENST00000374490.3	37	c.52delC	CCDS243.1																																																																																				0.697	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		2	4	NA	NA	NA	NA	NA	2	4	---	---	---	---
MAP3K12	7786	broad.mit.edu	37	12	53879112	53879114	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:53879112_53879114delCTT	ENST00000267079.2	-	6	1093_1095	c.868_870delAAG	c.(868-870)aagdel	p.K290del	MAP3K12_ENST00000547151.1_5'Flank|MAP3K12_ENST00000547488.1_In_Frame_Del_p.K323del|MAP3K12_ENST00000547035.1_In_Frame_Del_p.K323del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGATGTCGACCTTCTCAGACACA	0.547																																							uc001sdm.1		NA																	0				lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(868-870)AAGdel		mitogen-activated protein kinase kinase kinase																																				SO:0001651	inframe_deletion	7786				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr12:53879112_53879114delCTT	U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.868_870delAAG	12.37:g.53879112_53879114delCTT	ENSP00000267079:p.Lys290del					MAP3K12_uc001sdn.1_In_Frame_Del_p.K323del	p.K290del	NM_006301	NP_006292	Q12852	M3K12_HUMAN			6	966_968	-			290			Protein kinase.		B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	In_Frame_Del	DEL	ENST00000267079.2	37	c.868_870delAAG	CCDS8860.1																																																																																				0.547	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1	NM_006301		51	121	NA	NA	NA	NA	NA	51	121	---	---	---	---
CORO1C	23603	broad.mit.edu	37	12	109052668	109052686	+	Frame_Shift_Del	DEL	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-			TCGA-44-6146-01A-11D-1753-08	TCGA-44-6146-10A-01D-1753-08	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	-	-	TTCCAGATGATAATGGCAT	TTCCAGATGATAATGGCAT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d5e90162-d7d2-4a7c-89f0-51c2b32c9ef0	fd0a082d-ea1b-418d-9691-b9f3e07c9b87	g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT	ENST00000261401.3	-	5	630_648	c.458_476delATGCCATTATCATCTGGAA	c.(457-477)aatgccattatcatctggaatfs	p.NAIIIWN153fs	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Frame_Shift_Del_p.NAIIIWN153fs|CORO1C_ENST00000549772.1_Frame_Shift_Del_p.NAIIIWN159fs|CORO1C_ENST00000421578.2_Frame_Shift_Del_p.NAIIIWN48fs|CORO1C_ENST00000420959.2_Frame_Shift_Del_p.NAIIIWN206fs	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	153					actin cytoskeleton organization (GO:0030036)|phagocytosis (GO:0006909)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.W158L(2)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						TGTTCCCACATTCCAGATGATAATGGCATTATCACAGCC	0.406																																							uc001tnj.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(3)	3						c.(457-477)AATGCCATTATCATCTGGAATfs		coronin, actin binding protein, 1C isoform 1																																				SO:0001589	frameshift_variant	23603				actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding	g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT	BC002342	CCDS9120.1, CCDS61236.1	12q24.1	2013-01-10	2001-11-28			ENSG00000110880		"""Coronins"", ""WD repeat domain containing"""	2254	protein-coding gene	gene with protein product		605269	"""coronin, actin-binding protein, 1C"""			9778037, 10461187	Standard	NM_014325		Approved	coronin-3, HCRNN4	uc009zva.4	Q9ULV4		ENST00000261401.3:c.458_476delATGCCATTATCATCTGGAA	12.37:g.109052668_109052686delTTCCAGATGATAATGGCAT	ENSP00000261401:p.Asn153fs					CORO1C_uc009zva.2_Frame_Shift_Del_p.N206fs|CORO1C_uc010sxf.1_Intron	p.N153fs	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN			5	554_572	-			153_159			WD 2.		A7MAP0|A7MAP1|B3KU12|Q9NSK5	Frame_Shift_Del	DEL	ENST00000261401.3	37	c.458_476delATGCCATTATCATCTGGAA	CCDS9120.1																																																																																				0.406	CORO1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403802.1	NM_014325		13	124	NA	NA	NA	NA	NA	13	124	---	---	---	---
