#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GUCY1A3	2982	broad.mit.edu	37	4	156631708	156631708	+	Missense_Mutation	SNP	G	G	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:156631708G>C	ENST00000296518.7	+	6	600	c.391G>C	c.(391-393)Gtt>Ctt	p.V131L	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V131L|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V131L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V131L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	131					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCAGTGGAGGTTATCAAAGA	0.373																																						uc003iov.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(391-393)Gtt>Ctt		Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.							68.0	73.0	72.0					4																	156631708		2203	4300	6503	SO:0001583	missense	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156631708G>C		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.391G>C	4.37:g.156631708G>C	ENSP00000296518:p.Val131Leu		Somatic				GUCY1A3_uc003iou.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqc.2_Missense_Mutation_p.V131L|GUCY1A3_uc010iqd.3_Missense_Mutation_p.V130L|GUCY1A3_uc003iow.3_Missense_Mutation_p.V131L|GUCY1A3_uc003iox.3_Missense_Mutation_p.V131L|GUCY1A3_uc010iqe.3_Intron|GUCY1A3_uc003ioy.3_Missense_Mutation_p.V131L|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.V131L	p.V131L	NM_000856	NP_001124157	WXS	Illumina GAIIx	Phase_I	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	6	927	+	all_hematologic(180;0.24)	Renal(120;0.0854)	131	VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1).				D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	c.391G>C	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	4.406	0.075005	0.08485	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000296518;ENST00000513574	T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0	5.38	-3.37	0.04898	Heme-NO binding (1);	1.565960	0.03620	N	0.236242	T	0.20047	0.0482	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.15484	0.013;0.013;0.013	T	0.11251	-1.0595	10	0.34782	T	0.22	.	2.7149	0.05185	0.3427:0.1981:0.3524:0.1067	.	131;131;131	B3KU69;Q02108;D6RDW3	.;GCYA3_HUMAN;.	L	131	ENSP00000424361:V131L;ENSP00000421493:V131L;ENSP00000426968:V131L;ENSP00000412201:V131L;ENSP00000296518:V131L;ENSP00000426040:V131L	ENSP00000296518:V131L	V	+	1	0	GUCY1A3	156851158	0.000000	0.05858	0.004000	0.12327	0.377000	0.30045	0.001000	0.13038	-0.393000	0.07739	-0.300000	0.09419	GTT		0.373	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			29	51	0	0	0	1	0	29	51				
MYLK	4638	broad.mit.edu	37	3	123345769	123345769	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:123345769G>A	ENST00000475616.1	-	28	5133	c.5134C>T	c.(5134-5136)Cag>Tag	p.Q1712*	MYLK-AS1_ENST00000470449.1_RNA|MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000354792.5_Nonsense_Mutation_p.Q512*|MYLK_ENST00000360304.3_Nonsense_Mutation_p.Q1712*|MYLK_ENST00000346322.5_Nonsense_Mutation_p.Q1643*|MYLK_ENST00000418370.2_5'Flank|MYLK_ENST00000360772.3_Nonsense_Mutation_p.Q1661*|MYLK_ENST00000359169.1_Nonsense_Mutation_p.Q1661*|MYLK-AS1_ENST00000485162.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1712	Calmodulin-binding.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGAAGGCACTGCGTGCAGTCC	0.502																																						uc003ego.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(5134-5136)Cag>Tag		Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.							110.0	90.0	97.0					3																	123345769		2203	4300	6503	SO:0001587	stop_gained	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123345769G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5134C>T	3.37:g.123345769G>A	ENSP00000418335:p.Gln1712*		Somatic				MYLK-AS1_uc003egk.3_Intron|MYLK_uc010hrr.3_Nonsense_Mutation_p.Q147*|MYLK_uc011bjv.2_Nonsense_Mutation_p.Q512*|MYLK_uc011bjw.2_Nonsense_Mutation_p.Q1712*|MYLK_uc003egp.3_Nonsense_Mutation_p.Q1643*|MYLK_uc003egq.3_Nonsense_Mutation_p.Q1661*|MYLK_uc003egr.3_Nonsense_Mutation_p.Q1592*|MYLK_uc003egs.3_Nonsense_Mutation_p.Q1536*	p.Q1712*	NM_053025	NP_444253	WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	30	5416	-		Lung NSC(201;0.0496)	1712			Calmodulin-binding.|Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Nonsense_Mutation	SNP	ENST00000475616.1	37	c.5134C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	47	13.148124	0.99723	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	.	.	.	5.22	4.33	0.51752	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.7378	0.77859	0.0:0.1369:0.8631:0.0	.	.	.	.	X	1661;1712;1661;1643;512;1712	.	ENSP00000320622:Q1643X	Q	-	1	0	MYLK	124828459	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.300000	0.59079	1.408000	0.46895	0.591000	0.81541	CAG		0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		6	72	0	0	0	1	0	6	72				
NTNG2	84628	broad.mit.edu	37	9	135073480	135073480	+	Missense_Mutation	SNP	G	G	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr9:135073480G>T	ENST00000393229.3	+	3	1117	c.341G>T	c.(340-342)cGc>cTc	p.R114L	NTNG2_ENST00000360670.3_Missense_Mutation_p.R114L|NTNG2_ENST00000372179.3_Missense_Mutation_p.R114L|NTNG2_ENST00000393228.4_Missense_Mutation_p.R114L	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	114	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTGGAGCCGCTACCCCAGC	0.652																																						uc004cbh.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(340-342)cGc>cTc		Homo sapiens netrin G2 (NTNG2), mRNA.							78.0	69.0	72.0					9																	135073480		2203	4300	6503	SO:0001583	missense	84628				axonogenesis	anchored to plasma membrane		g.chr9:135073480G>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.341G>T	9.37:g.135073480G>T	ENSP00000376921:p.Arg114Leu		Somatic					p.R114L	NM_032536	NP_115925	WXS	Illumina GAIIx	Phase_I	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	2	1117	+			114			Laminin N-terminal.		Q5JUJ2|Q6UXY0|Q96JH0	Missense_Mutation	SNP	ENST00000393229.3	37	c.341G>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852423	0.91355	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670;ENST00000372179	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	5.13	5.13	0.70059	Laminin, N-terminal (3);	0.000000	0.64402	D	0.000001	D	0.83036	0.5167	M	0.69823	2.125	0.58432	D	0.999998	D	0.60575	0.988	P	0.57960	0.83	D	0.83641	0.0150	10	0.45353	T	0.12	.	17.567	0.87922	0.0:0.0:1.0:0.0	.	114	Q96CW9	NTNG2_HUMAN	L	114	ENSP00000376921:R114L;ENSP00000376920:R114L;ENSP00000353888:R114L;ENSP00000361252:R114L	ENSP00000353888:R114L	R	+	2	0	NTNG2	134063301	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.696000	0.74598	2.381000	0.81170	0.561000	0.74099	CGC		0.652	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		29	52	0	0	0	1	0	29	52				
TG	7038	broad.mit.edu	37	8	133883768	133883768	+	Silent	SNP	G	G	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr8:133883768G>T	ENST00000220616.4	+	4	490	c.450G>T	c.(448-450)ggG>ggT	p.G150G	TG_ENST00000377869.1_Silent_p.G150G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	150	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGGTGTATGGGACCCGCCAGC	0.607																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(448-450)ggG>ggT		Homo sapiens thyroglobulin (TG), mRNA.							104.0	76.0	86.0					8																	133883768		2203	4300	6503	SO:0001819	synonymous_variant	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133883768G>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.450G>T	8.37:g.133883768G>T			Somatic					p.G150G	NM_003235	NP_003226	WXS	Illumina GAIIx	Phase_I	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	3	491	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	150			Thyroglobulin type-1 2.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	c.450G>T	CCDS34944.1																																																																																				0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		17	37	0	0	0	1	0	17	37				
MMP24	10893	broad.mit.edu	37	20	33834779	33834779	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr20:33834779A>C	ENST00000246186.6	+	2	468	c.383A>C	c.(382-384)cAg>cCg	p.Q128P	EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	128					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GTGTTGGATCAGACAACGATC	0.522																																						uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(382-384)cAg>cCg		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							107.0	104.0	105.0					20																	33834779		2041	4186	6227	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33834779A>C	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.383A>C	20.37:g.33834779A>C	ENSP00000246186:p.Gln128Pro		Somatic				EDEM2_uc010zuv.1_Intron	p.Q128P	NM_006690	NP_006681	WXS	Illumina GAIIx	Phase_I	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		1	386	+			128					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.383A>C	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	11.52	1.663438	0.29515	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.31247	1.5	5.5	5.5	0.81552	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.128774	0.53938	D	0.000048	T	0.19167	0.0460	N	0.10782	0.045	0.52099	D	0.99994	B	0.02656	0.0	B	0.11329	0.006	T	0.04737	-1.0930	10	0.35671	T	0.21	.	14.9427	0.71006	1.0:0.0:0.0:0.0	.	128	Q9Y5R2	MMP24_HUMAN	P	128;76	ENSP00000246186:Q128P	ENSP00000246186:Q128P	Q	+	2	0	MMP24	33298195	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.230000	0.78097	2.310000	0.77875	0.450000	0.29827	CAG		0.522	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		7	107	0	0	0	1	0	7	107				
PSPH	5723	broad.mit.edu	37	7	56079524	56079524	+	Silent	SNP	T	T	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:56079524T>C	ENST00000395471.3	-	8	1414	c.609A>G	c.(607-609)caA>caG	p.Q203Q	PSPH_ENST00000275605.3_Silent_p.Q203Q|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	203					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCTTGACTTGTTGCCTGATCA	0.348																																						uc003trj.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(694-696)caA>caG		Homo sapiens phosphoserine phosphatase (PSPH), mRNA.							100.0	87.0	91.0					7																	56079524		2203	4298	6501	SO:0001819	synonymous_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56079524T>C	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.609A>G	7.37:g.56079524T>C			Somatic				PSPH_uc003trh.3_Silent_p.Q203Q|PSPH_uc003tri.3_Silent_p.Q203Q	p.Q232Q	NM_004577	NP_004568	WXS	Illumina GAIIx	Phase_I	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		5	1011	-	Breast(14;0.214)		203					B2RCR5|Q7Z3S5	Silent	SNP	ENST00000395471.3	37	c.696A>G	CCDS5522.1																																																																																				0.348	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577		11	170	0	0	0	1	0	11	170				
MOGAT3	346606	broad.mit.edu	37	7	100841499	100841499	+	Missense_Mutation	SNP	C	C	G	rs370137222		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:100841499C>G	ENST00000223114.4	-	5	807	c.641G>C	c.(640-642)gGc>gCc	p.G214A	MOGAT3_ENST00000379423.3_Missense_Mutation_p.G214A|MOGAT3_ENST00000440203.2_Missense_Mutation_p.G214A	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	214					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCGCACGAAGCCTTTGCGCTT	0.647																																						uc003uyc.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22						c.(640-642)gGc>gCc		Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.		C	ALA/GLY	0,4406		0,0,2203	44.0	45.0	45.0		641	5.2	1.0	7		45	2,8598		0,2,4298	no	missense	MOGAT3	NM_178176.2	60	0,2,6501	GG,GC,CC		0.0233,0.0,0.0154	probably-damaging	214/342	100841499	2,13004	2203	4300	6503	SO:0001583	missense	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100841499C>G	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.641G>C	7.37:g.100841499C>G	ENSP00000223114:p.Gly214Ala		Somatic				MOGAT3_uc010lhr.3_Missense_Mutation_p.G214A	p.G214A	NM_178176	NP_835470	WXS	Illumina GAIIx	Phase_I	Q86VF5	MOGT3_HUMAN			4	808	-	Lung NSC(181;0.168)|all_lung(186;0.215)		214					Q496A6|Q496A7|Q496A8|Q9UDW7	Missense_Mutation	SNP	ENST00000223114.4	37	c.641G>C	CCDS5714.1	.	.	.	.	.	.	.	.	.	.	.	21.3	4.133219	0.77662	0.0	2.33E-4	ENSG00000106384	ENST00000223114;ENST00000440203;ENST00000379423	T;T;T	0.36699	1.24;1.24;1.24	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73837	0.3638	H	0.97440	4.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.84070	0.0379	10	0.87932	D	0	-30.5891	16.123	0.81375	0.0:1.0:0.0:0.0	.	214;214	Q86VF5-2;Q86VF5	.;MOGT3_HUMAN	A	214	ENSP00000223114:G214A;ENSP00000403756:G214A;ENSP00000368734:G214A	ENSP00000223114:G214A	G	-	2	0	MOGAT3	100628219	1.000000	0.71417	0.980000	0.43619	0.440000	0.31957	4.469000	0.60169	2.412000	0.81896	0.561000	0.74099	GGC		0.647	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		35	47	0	0	0	1	0	35	47				
NUP133	55746	broad.mit.edu	37	1	229606430	229606430	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr1:229606430G>A	ENST00000261396.3	-	15	2064	c.1973C>T	c.(1972-1974)tCc>tTc	p.S658F	NUP133_ENST00000537506.1_Missense_Mutation_p.S642F	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	658					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGAAAGCCGGGAGTGGTGGTT	0.502																																						uc001htn.3																			0				NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56						c.(1972-1974)tCc>tTc		Homo sapiens nucleoporin 133kDa (NUP133), mRNA.							107.0	101.0	103.0					1																	229606430		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	nucleocytoplasmic transporter activity|protein binding	g.chr1:229606430G>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1973C>T	1.37:g.229606430G>A	ENSP00000261396:p.Ser658Phe		Somatic					p.S658F	NM_018230	NP_060700	WXS	Illumina GAIIx	Phase_I	Q8WUM0	NU133_HUMAN			14	2065	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	658					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.1973C>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663929	0.67700	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.25085	1.83;1.82;1.84	5.56	4.64	0.57946	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.269628	0.45361	D	0.000370	T	0.32466	0.0830	M	0.62723	1.935	0.46396	D	0.999023	P	0.47762	0.9	P	0.45712	0.491	T	0.14090	-1.0485	10	0.66056	D	0.02	-17.3599	12.3858	0.55330	0.0:0.1285:0.7379:0.1336	.	658	Q8WUM0	NU133_HUMAN	F	658;658;658;642	ENSP00000261396:S658F;ENSP00000355640:S658F;ENSP00000443496:S642F	ENSP00000261396:S658F	S	-	2	0	NUP133	227673053	1.000000	0.71417	0.520000	0.27837	0.932000	0.56968	2.935000	0.48963	1.465000	0.48006	-0.176000	0.13171	TCC		0.502	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	129	0	0	0	1	0	17	129				
SNRK	54861	broad.mit.edu	37	3	43345283	43345283	+	Splice_Site	SNP	A	A	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:43345283A>T	ENST00000296088.7	+	3	892	c.588A>T	c.(586-588)gtA>gtT	p.V196V	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Splice_Site_p.V196V|SNRK_ENST00000454177.1_Splice_Site_p.V196V|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CACCTGCAGTAGGTAGGTAAC	0.423																																						uc003cms.4																			0				breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27						c.e3+1		Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.							96.0	90.0	92.0					3																	43345283		1880	4118	5998	SO:0001630	splice_region_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43345283A>T	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.589+1A>T	3.37:g.43345283A>T			Somatic				SNRK_uc003cmt.4_Splice_Site_p.D197_splice|SNRK_uc010hik.3_Splice_Site_p.D197_splice|SNRK_uc011azr.2_Intron|SNRK_uc003cmu.3_Splice_Site_p.D197_splice	p.D197_splice	NM_017719	NP_060189	WXS	Illumina GAIIx	Phase_I	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	3	921	+			197			Protein kinase.			Splice_Site	SNP	ENST00000296088.7	37	c.589_splice	CCDS43075.1																																																																																				0.423	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	Silent	51	91	0	0	0	1	0	51	91				
LRRK2	120892	broad.mit.edu	37	12	40716160	40716160	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr12:40716160C>G	ENST00000298910.7	+	37	5415	c.5357C>G	c.(5356-5358)tCt>tGt	p.S1786C		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1786					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.S1749F(1)|p.S1786F(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CACATTGATTCTCTCATGGAA	0.398																																						uc001rmg.4																			2	Substitution - Missense(2)	p.Q1786K(1)|p.S1749F(1)|p.S1786F(1)	ovary(2)	NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(5356-5358)tCt>tGt		Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.							247.0	232.0	237.0					12																	40716160		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40716160C>G	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5357C>G	12.37:g.40716160C>G	ENSP00000298910:p.Ser1786Cys		Somatic				LRRK2_uc009zjw.3_Missense_Mutation_p.S624C|LRRK2_uc001rmi.3_Missense_Mutation_p.S619C	p.S1786C	NM_198578	NP_940980	WXS	Illumina GAIIx	Phase_I	Q5S007	LRRK2_HUMAN			36	5478	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1786					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.5357C>G	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632962	0.87660	.	.	ENSG00000188906	ENST00000298910	T	0.75154	-0.91	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.83871	0.5348	L	0.50333	1.59	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.988	D	0.84215	0.0458	10	0.59425	D	0.04	.	19.5666	0.95395	0.0:1.0:0.0:0.0	.	1786;1786	Q17RV3;Q5S007	.;LRRK2_HUMAN	C	1786	ENSP00000298910:S1786C	ENSP00000298910:S1786C	S	+	2	0	LRRK2	39002427	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.213000	0.77950	2.602000	0.87976	0.650000	0.86243	TCT		0.398	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		149	253	0	0	0	1	0	149	253				
CNOT10	25904	broad.mit.edu	37	3	32778913	32778913	+	Missense_Mutation	SNP	A	A	G	rs201889112		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr3:32778913A>G	ENST00000328834.5	+	13	1842	c.1526A>G	c.(1525-1527)cAt>cGt	p.H509R	CNOT10_ENST00000538368.1_Missense_Mutation_p.H281R|CNOT10_ENST00000454516.2_Missense_Mutation_p.H569R|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	509				H -> Y (in Ref. 1; BAB14108). {ECO:0000305}.	gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AGTAAAAGCCATGATGGAGAT	0.323													A|||	1	0.000199681	0.0	0.0	5008	,	,		19653	0.0		0.001	False		,,,				2504	0.0					uc011axj.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1705-1707)cAt>cGt		Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.							64.0	62.0	63.0					3																	32778913		2203	4300	6503	SO:0001583	missense	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32778913A>G	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	ENST00000328834.5:c.1526A>G	3.37:g.32778913A>G	ENSP00000330060:p.His509Arg		Somatic				CNOT10_uc011axi.1_Missense_Mutation_p.H281R|CNOT10_uc003cfc.1_Missense_Mutation_p.H509R|CNOT10_uc003cfd.1_Missense_Mutation_p.H508R|CNOT10_uc003cfe.1_Intron|CNOT10_uc010hfv.1_Intron|CNOT10_uc010hfw.1_Missense_Mutation_p.H204R	p.H569R	NM_015442	NP_056257	WXS	Illumina GAIIx	Phase_I	Q9H9A5	CNOTA_HUMAN			12	1783	+			509					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Missense_Mutation	SNP	ENST00000328834.5	37	c.1706A>G	CCDS2655.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	16.09	3.024334	0.54683	.	.	ENSG00000182973	ENST00000328834;ENST00000538368;ENST00000454516;ENST00000430408	T;T;T	0.41065	1.6;1.01;1.58	5.46	5.46	0.80206	.	0.047007	0.85682	D	0.000000	T	0.35799	0.0944	L	0.39898	1.24	0.58432	D	0.999998	B;B;B	0.24426	0.014;0.103;0.091	B;B;B	0.21917	0.006;0.037;0.024	T	0.10567	-1.0624	10	0.25106	T	0.35	-24.0666	15.5456	0.76097	1.0:0.0:0.0:0.0	.	569;508;509	F8WAF2;Q9H9A5-2;Q9H9A5	.;.;CNOTA_HUMAN	R	509;281;569;56	ENSP00000330060:H509R;ENSP00000442552:H281R;ENSP00000399862:H569R	ENSP00000330060:H509R	H	+	2	0	CNOT10	32753917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.722000	0.74735	2.068000	0.61886	0.533000	0.62120	CAT		0.323	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	NM_015442		36	75	0	0	0	1	0	36	75				
CPA2	1358	broad.mit.edu	37	7	129906739	129906739	+	Silent	SNP	C	C	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr7:129906739C>T	ENST00000222481.4	+	1	73	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	6					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGAGGTTGATCCTGTTTTTTG	0.443																																						uc003vpq.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(16-18)atC>atT		Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.							238.0	214.0	222.0					7																	129906739		2203	4300	6503	SO:0001819	synonymous_variant	1358				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	g.chr7:129906739C>T	U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.18C>T	7.37:g.129906739C>T			Somatic				CPA2_uc011kpc.1_Silent_p.I6I	p.I6I	NM_001869	NP_001860	WXS	Illumina GAIIx	Phase_I	P48052	CBPA2_HUMAN			0	37	+	Melanoma(18;0.0435)		6					A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Silent	SNP	ENST00000222481.4	37	c.18C>T	CCDS5817.2																																																																																				0.443	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2	NM_001869		76	122	0	0	0	1	0	76	122				
KCNIP4	80333	broad.mit.edu	37	4	20751329	20751329	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr4:20751329A>C	ENST00000382152.2	-	5	552	c.385T>G	c.(385-387)Ttc>Gtc	p.F129V	KCNIP4_ENST00000509207.1_Missense_Mutation_p.F67V|KCNIP4_ENST00000447367.2_Missense_Mutation_p.F95V|KCNIP4_ENST00000382150.4_Missense_Mutation_p.F108V|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382148.3_Missense_Mutation_p.F104V|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000359001.5_Missense_Mutation_p.F67V	NM_025221.5	NP_079497.2	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	129	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				AATGCATTGAACAGAAAATGT	0.358																																						uc021xmt.1																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(385-387)Ttc>Gtc		Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA.							114.0	105.0	108.0					4																	20751329		2203	4300	6503	SO:0001583	missense	80333					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity	g.chr4:20751329A>C	AF453244	CCDS3428.1, CCDS43215.1, CCDS43216.1, CCDS43217.1, CCDS47035.1	4p15.32	2013-01-10			ENSG00000185774	ENSG00000185774		"""EF-hand domain containing"""	30083	protein-coding gene	gene with protein product		608182				11805342, 11847232	Standard	XM_005248190		Approved	CALP, KCHIP4, MGC44947	uc003gqh.1	Q6PIL6	OTTHUMG00000128557	ENST00000382152.2:c.385T>G	4.37:g.20751329A>C	ENSP00000371587:p.Phe129Val		Somatic				KCNIP4_uc003gqe.2_Missense_Mutation_p.F112V|KCNIP4_uc003gqf.1_Missense_Mutation_p.F108V|KCNIP4_uc003gqg.1_Missense_Mutation_p.F67V|KCNIP4_uc003gqh.1_Missense_Mutation_p.F104V|KCNIP4_uc003gqi.1_Missense_Mutation_p.F67V|KCNIP4_uc021xmu.1_Missense_Mutation_p.F95V|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.F92V	p.F129V	NM_025221	NP_671711	WXS	Illumina GAIIx	Phase_I	Q6PIL6	KCIP4_HUMAN			4	505	-		Breast(46;0.134)	129			EF-hand 2.		Q3YAB8|Q3YAB9|Q3YAC0|Q3YAC1|Q3YAC2|Q4W5G8|Q8NEU0|Q9BWT2|Q9H294|Q9H2A4	Missense_Mutation	SNP	ENST00000382152.2	37	c.385T>G	CCDS43216.1	.	.	.	.	.	.	.	.	.	.	A	26.0	4.693481	0.88735	.	.	ENSG00000185774	ENST00000382148;ENST00000447367;ENST00000382150;ENST00000413487;ENST00000382152;ENST00000509207;ENST00000359001	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.6	5.6	0.85130	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.65678	0.2714	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.69078	0.993;0.993;0.997;0.98	D;D;D;D	0.81914	0.987;0.987;0.995;0.985	T	0.75819	-0.3183	10	0.87932	D	0	.	14.7522	0.69533	1.0:0.0:0.0:0.0	.	104;108;112;129	Q3YAB9;Q3YAC0;Q3YAB7;Q6PIL6	.;.;.;KCIP4_HUMAN	V	104;95;108;67;129;67;67	ENSP00000371583:F104V;ENSP00000399080:F95V;ENSP00000371585:F108V;ENSP00000371587:F129V;ENSP00000423257:F67V;ENSP00000351892:F67V	ENSP00000351892:F67V	F	-	1	0	KCNIP4	20360427	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	8.881000	0.92415	2.119000	0.64992	0.477000	0.44152	TTC		0.358	KCNIP4-004	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360407.3	NM_025221		7	65	0	0	0	1	0	7	65				
P2RY11	5032	broad.mit.edu	37	19	10225802	10225802	+	3'UTR	SNP	C	C	T	rs199502040		TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr19:10225802C>T	ENST00000321826.4	+	0	1697				EIF3G_ENST00000253108.4_Silent_p.P317P	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11						activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			AGTTGGTGGACGGCCTGGGGT	0.637													C|||	0	0.0	0.0	0.0	5008	,	,		11600	0.0		0.0	False		,,,				2504	0.0					uc002mnd.3																			0				central_nervous_system(1)|lung(1)	2						c.(949-951)ccG>ccA		Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.		C	,,,	1,4405		0,1,2202	48.0	52.0	51.0		,,,951	-0.9	1.0	19		51	0,8600		0,0,4300	no	utr-3,utr-3,utr-3,coding-synonymous	P2RY11,EIF3G,PPAN-P2RY11	NM_001040664.2,NM_001198690.1,NM_002566.4,NM_003755.3	,,,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,,,	,,,317/321	10225802	1,13005	2203	4300	6503	SO:0001624	3_prime_UTR_variant	8666					cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity	g.chr19:10225802C>T	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.*388C>T	19.37:g.10225802C>T			Somatic				PPAN-P2RY11_uc002mna.3_3'UTR|PPAN-P2RY11_uc010xla.2_3'UTR|PPAN-P2RY11_uc002mnc.3_3'UTR	p.P317P	NM_003755	NP_003746	WXS	Illumina GAIIx	Phase_I	O75821	EIF3G_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)		10	1015	-			317			RRM.		B2R8X9|O43190|Q9BYU4|Q9H170	Silent	SNP	ENST00000321826.4	37	c.951G>A	CCDS12226.1																																																																																				0.637	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		13	17	0	0	0	1	0	13	17				
BGLT3	103344929	broad.mit.edu	37	11	5264339	5264339	+	RNA	SNP	G	G	T			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr11:5264339G>T	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							TACTCACCAGGAAGTTCTCAG	0.463																																						uc001mag.3																			0											c.(145-147)ttC>ttA		Homo sapiens hemoglobin, beta pseudogene 1 (HBBP1), non-coding RNA.																																						3044							g.chr11:5264339G>T																													11.37:g.5264339G>T			Somatic					p.F49L			WXS	Illumina GAIIx	Phase_I					1	363	-									Missense_Mutation	SNP	ENST00000564523.1	37	c.147C>A																																																																																					0.463	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			11	12	0	0	0	1	0	11	12				
CTC1	80169	broad.mit.edu	37	17	8141916	8141916	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr17:8141916G>A	ENST00000315684.8	-	3	236	c.229C>T	c.(229-231)Cag>Tag	p.Q77*	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	77					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GGGAGACGCTGGTGAGTCTTG	0.592																																						uc002gkq.4																			0				NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						c.(229-231)Cag>Tag		Homo sapiens CTS telomere maintenance complex component 1 (CTC1), mRNA.							74.0	75.0	75.0					17																	8141916		2056	4211	6267	SO:0001587	stop_gained	80169				positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding	g.chr17:8141916G>A	AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.229C>T	17.37:g.8141916G>A	ENSP00000313759:p.Gln77*		Somatic				CTC1_uc010cnv.3_Non-coding_Transcript	p.Q77*	NM_025099	NP_079375	WXS	Illumina GAIIx	Phase_I	Q2NKJ3	CTC1_HUMAN			2	288	-			77					B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Nonsense_Mutation	SNP	ENST00000315684.8	37	c.229C>T	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534645	0.64972	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	.	.	.	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.683	15.8634	0.79043	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000313759:Q77X	Q	-	1	0	CTC1	8082641	1.000000	0.71417	0.950000	0.38849	0.680000	0.39746	5.737000	0.68606	2.826000	0.97356	0.561000	0.74099	CAG		0.592	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1	NM_025099		70	84	0	0	0	1	0	70	84				
ATP9B	374868	broad.mit.edu	37	18	76936903	76936904	+	Frame_Shift_Del	DEL	TG	TG	-	rs201854663	byFrequency	TCGA-DJ-A3VM-01A-11D-A23M-08	TCGA-DJ-A3VM-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	84aaa406-6753-4374-9b89-fd6e1fa366d5	7c207e1e-48ae-4299-af8c-1e95033b467b	g.chr18:76936903_76936904delTG	ENST00000426216.2	+	8	886_887	c.869_870delTG	c.(868-870)ctgfs	p.L290fs	ATP9B_ENST00000307671.7_Frame_Shift_Del_p.L290fs	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	290					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CTGCCGGCTCTGGGGGTGAGCA	0.441																																						uc002lmx.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38						c.(868-870)ctgfs		Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.																																				SO:0001589	frameshift_variant	374868				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76936903_76936904delTG	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.869_870delTG	18.37:g.76936903_76936904delTG	ENSP00000398076:p.Leu290fs		Somatic				ATP9B_uc002lmv.1_Intron|ATP9B_uc002lmw.1_Frame_Shift_Del_p.L290fs|ATP9B_uc002lmy.1_Intron|ATP9B_uc002lmz.1_5'UTR	p.L290fs	NM_198531	NP_940933	WXS	Illumina GAIIx	Phase_I	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	7	883_884	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	290					O60872|Q08AD8|Q08AD9	Frame_Shift_Del	DEL	ENST00000426216.2	37	c.869_870delTG	CCDS12014.1																																																																																				0.441	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		51	102						51	102	---	---	---	---
