#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TMEM145	284339	broad.mit.edu	37	19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T	MEGF8_ENST00000251268.6_5'Flank|MEGF8_ENST00000334370.4_5'Flank	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706																																						ENST00000301204.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27						c.(1381-1383)aTc>aCc		transmembrane protein 145							78.0	66.0	70.0					19																	42827922		2203	4300	6503	SO:0001583	missense	284339					integral to membrane		g.chr19:42827922T>C	AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.1382T>C	19.37:g.42827922T>C	ENSP00000301204:p.Ile461Thr						p.I461T	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN			14	1423	+		Prostate(69;0.00682)	461						Missense_Mutation	SNP	ENST00000301204.3	37	c.1382T>C	CCDS12603.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.240414	0.58995	.	.	ENSG00000167619	ENST00000301204	T	0.51071	0.72	4.68	4.68	0.58851	.	0.137856	0.46145	D	0.000306	T	0.55768	0.1941	L	0.48642	1.525	0.53005	D	0.999966	P	0.50156	0.932	P	0.58520	0.84	T	0.54583	-0.8272	10	0.41790	T	0.15	-26.1249	12.3773	0.55287	0.0:0.0:0.0:1.0	.	461	Q8NBT3	TM145_HUMAN	T	461	ENSP00000301204:I461T	ENSP00000301204:I461T	I	+	2	0	TMEM145	47519762	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.882000	0.63121	1.868000	0.54150	0.528000	0.53228	ATC		0.706	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463737.1	NM_173633		3	114	0	0	0	0.014758	0	3	114				
CNTLN	54875	broad.mit.edu	37	9	17236437	17236437	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr9:17236437G>A	ENST00000380647.3	+	5	784	c.700G>A	c.(700-702)Gag>Aag	p.E234K	CNTLN_ENST00000380641.4_Missense_Mutation_p.E234K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E234K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E234K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	234					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GAACAAAGAAGAGCAAAACAG	0.383																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(700-702)Gag>Aag		centlein, centrosomal protein							91.0	91.0	91.0					9																	17236437		1814	4084	5898	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17236437G>A	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.700G>A	9.37:g.17236437G>A	ENSP00000370021:p.Glu234Lys					CNTLN_ENST00000425824.1_Missense_Mutation_p.E234K|CNTLN_ENST00000380641.4_Missense_Mutation_p.E234K|CNTLN_ENST00000262360.5_Missense_Mutation_p.E234K	p.E234K			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	5	784	+			234					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.700G>A	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229972	0.39399	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	5.59	5.59	0.84812	.	.	.	.	.	T	0.15998	0.0385	L	0.52364	1.645	0.41151	D	0.986026	P;P;B	0.51537	0.946;0.946;0.319	P;P;B	0.52758	0.708;0.708;0.069	T	0.00195	-1.1932	9	0.48119	T	0.1	.	12.5579	0.56265	0.0768:0.0:0.9232:0.0	.	234;234;234	C9J1F9;Q9NXG0-2;Q9NXG0-3	.;.;.	K	234	ENSP00000370021:E234K;ENSP00000392798:E234K;ENSP00000262360:E234K;ENSP00000370015:E234K	ENSP00000262360:E234K	E	+	1	0	CNTLN	17226437	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.588000	0.74076	2.631000	0.89168	0.561000	0.74099	GAG		0.383	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		14	61	0	0	0	0.007413	0	14	61				
PVRL1	5818	broad.mit.edu	37	11	119548360	119548360	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr11:119548360A>G	ENST00000264025.3	-	3	1168	c.638T>C	c.(637-639)cTg>cCg	p.L213P	PVRL1_ENST00000340882.2_Missense_Mutation_p.L213P|PVRL1_ENST00000341398.2_Missense_Mutation_p.L213P|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	213	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GCTGGGCACCAGGCGGTAGCG	0.582																																						ENST00000264025.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(637-639)cTg>cCg		poliovirus receptor-related 1 (herpesvirus entry mediator C)							140.0	127.0	131.0					11																	119548360		2199	4295	6494	SO:0001583	missense	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119548360A>G	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.638T>C	11.37:g.119548360A>G	ENSP00000264025:p.Leu213Pro					PVRL1_ENST00000341398.2_Missense_Mutation_p.L213P|PVRL1_ENST00000340882.2_Missense_Mutation_p.L213P|PVRL1_ENST00000524510.1_5'UTR	p.L213P	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	3	1168	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	213			Ig-like C2-type 1.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Missense_Mutation	SNP	ENST00000264025.3	37	c.638T>C	CCDS8426.1	.	.	.	.	.	.	.	.	.	.	a	22.3	4.266585	0.80358	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	T;T;T	0.79845	-1.31;-1.31;-1.31	5.21	5.21	0.72293	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.219003	0.39475	N	0.001352	D	0.89774	0.6812	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.90626	0.4563	9	.	.	.	.	14.2568	0.66058	1.0:0.0:0.0:0.0	.	213;213;213	Q15223-3;Q15223;Q15223-2	.;PVRL1_HUMAN;.	P	213	ENSP00000344974:L213P;ENSP00000264025:L213P;ENSP00000345289:L213P	.	L	-	2	0	PVRL1	119053570	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.121000	0.77160	1.983000	0.57843	0.454000	0.30748	CTG		0.582	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			3	106	0	0	0	0.009096	0	3	106				
ADAMTS18	170692	broad.mit.edu	37	16	77396028	77396028	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr16:77396028C>T	ENST00000282849.5	-	7	1608	c.1190G>A	c.(1189-1191)tGg>tAg	p.W397*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	397	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCATTCTTCCAAGAACAAAT	0.398																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(1189-1191)tGg>tAg		ADAM metallopeptidase with thrombospondin type 1 motif, 18							145.0	125.0	132.0					16																	77396028		2198	4300	6498	SO:0001587	stop_gained	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77396028C>T	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.1190G>A	16.37:g.77396028C>T	ENSP00000282849:p.Trp397*						p.W397*	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			7	1608	-			397			Peptidase M12B.		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	c.1190G>A	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	C	41	9.009370	0.99035	.	.	ENSG00000140873	ENST00000282849	.	.	.	5.26	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.3344	0.66578	0.1493:0.8507:0.0:0.0	.	.	.	.	X	397	.	ENSP00000282849:W397X	W	-	2	0	ADAMTS18	75953529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.604000	0.82830	1.412000	0.46977	0.655000	0.94253	TGG		0.398	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			7	27	0	0	0	0.001984	0	7	27				
ANKRD30BL	554226	broad.mit.edu	37	2	132905792	132905792	+	Missense_Mutation	SNP	G	G	C	rs189049364		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr2:132905792G>C	ENST00000409867.1	-	6	938	c.689C>G	c.(688-690)tCt>tGt	p.S230C	ANKRD30BL_ENST00000470729.1_5'UTR			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	230								p.S230C(2)		endometrium(1)|kidney(3)	4						TGTTCCTTCAGATGTTCCTTC	0.443																																						ENST00000409867.1																			2	Substitution - Missense(2)	p.S230C(2)	kidney(2)	endometrium(1)|kidney(3)	4						c.(688-690)tCt>tGt		ankyrin repeat domain 30B-like																																				SO:0001583	missense	554226							g.chr2:132905792G>C			2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.689C>G	2.37:g.132905792G>C	ENSP00000386398:p.Ser230Cys					ANKRD30BL_ENST00000470729.1_5'UTR	p.S230C							6	938	-								B8ZZL7	Missense_Mutation	SNP	ENST00000409867.1	37	c.689C>G		.	.	.	.	.	.	.	.	.	.	.	8.999	0.979581	0.18812	.	.	ENSG00000163046	ENST00000409867	T	0.38560	1.13	0.109	0.109	0.14578	.	.	.	.	.	T	0.32793	0.0841	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28427	-1.0044	5	0.35671	T	0.21	.	.	.	.	.	.	.	.	C	230	ENSP00000386398:S230C	ENSP00000386398:S230C	S	-	2	0	ANKRD30BL	132622262	0.200000	0.23398	0.088000	0.20740	0.105000	0.19272	0.320000	0.19540	0.181000	0.19994	0.184000	0.17185	TCT		0.443	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019		3	19	0	0	0	0.014758	0	3	19				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	37	0	0	0	0.004672	0	3	37				
TRAFD1	10906	broad.mit.edu	37	12	112589709	112589709	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:112589709T>G	ENST00000257604.5	+	10	2001	c.1384T>G	c.(1384-1386)Tat>Gat	p.Y462D	TRAFD1_ENST00000412615.2_Missense_Mutation_p.Y462D|Y_RNA_ENST00000363265.1_RNA	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	462					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GACAGCTACCTATAACCAGCT	0.542																																						ENST00000257604.5																			0				kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						c.(1384-1386)Tat>Gat		TRAF-type zinc finger domain containing 1							132.0	142.0	138.0					12																	112589709		2203	4300	6503	SO:0001583	missense	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112589709T>G	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.1384T>G	12.37:g.112589709T>G	ENSP00000257604:p.Tyr462Asp					TRAFD1_ENST00000412615.2_Missense_Mutation_p.Y462D	p.Y462D	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN			10	2001	+			462					A8K5L6|B4DI89	Missense_Mutation	SNP	ENST00000257604.5	37	c.1384T>G	CCDS9160.1	.	.	.	.	.	.	.	.	.	.	T	6.124	0.391055	0.11581	.	.	ENSG00000135148	ENST00000412615;ENST00000257604	T;T	0.28666	1.6;1.6	6.16	3.84	0.44239	.	1.077110	0.06969	N	0.817797	T	0.22475	0.0542	N	0.22421	0.69	0.09310	N	1	B	0.20671	0.047	B	0.24155	0.051	T	0.24261	-1.0165	10	0.49607	T	0.09	1.765	5.4628	0.16626	0.0:0.2404:0.0:0.7596	.	462	O14545	TRAD1_HUMAN	D	462	ENSP00000396526:Y462D;ENSP00000257604:Y462D	ENSP00000257604:Y462D	Y	+	1	0	TRAFD1	111074092	0.001000	0.12720	0.002000	0.10522	0.072000	0.16883	0.679000	0.25291	1.155000	0.42497	0.528000	0.53228	TAT		0.542	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		16	246	0	0	0	0.028581	0	16	246				
PIK3CD	5293	broad.mit.edu	37	1	9783255	9783255	+	Silent	SNP	C	C	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr1:9783255C>G	ENST00000377346.4	+	20	2694	c.2499C>G	c.(2497-2499)acC>acG	p.T833T	PIK3CD_ENST00000361110.2_Silent_p.T857T|PIK3CD_ENST00000536656.1_Silent_p.T857T	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	833	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GTTCAGACACCATCGCCAACA	0.607																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(2569-2571)acC>acG		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							138.0	135.0	136.0					1																	9783255		2203	4300	6503	SO:0001819	synonymous_variant	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9783255C>G		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.2499C>G	1.37:g.9783255C>G						PIK3CD_ENST00000377346.4_Silent_p.T833T|PIK3CD_ENST00000361110.2_Silent_p.T857T	p.T857T			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	20	2779	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	833			PI3K/PI4K.		A6NCG0|G1FFP1|O15445|Q5SR49	Silent	SNP	ENST00000377346.4	37	c.2571C>G	CCDS104.1																																																																																				0.607	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		7	239	0	0	0	0.003080	0	7	239				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	5	0	0	0	0.004672	0	3	5				
NUAK1	9891	broad.mit.edu	37	12	106460871	106460871	+	Silent	SNP	G	G	A	rs142540856		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr12:106460871G>A	ENST00000261402.2	-	7	3074	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	565					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGGGCGGCTGTAGCTCCGGG	0.632																																						ENST00000261402.2																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1693-1695)taC>taT		NUAK family, SNF1-like kinase, 1		G		0,4404		0,0,2202	33.0	39.0	37.0		1695	2.9	1.0	12	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NUAK1	NM_014840.2		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		565/662	106460871	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460871G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1695C>T	12.37:g.106460871G>A							p.Y565Y	NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN			7	3074	-			565					A7MD39|Q96KA8	Silent	SNP	ENST00000261402.2	37	c.1695C>T	CCDS31892.1																																																																																				0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	NM_014840		8	50	0	0	0	0.006214	0	8	50				
CCDC170	80129	broad.mit.edu	37	6	151939128	151939128	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr6:151939128T>G	ENST00000239374.7	+	11	2093	c.1994T>G	c.(1993-1995)gTg>gGg	p.V665G	CCDC170_ENST00000367290.5_Missense_Mutation_p.V672G|RNU6-813P_ENST00000384691.1_RNA	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	665																	GGCTTGAACGTGACCAGCCTT	0.438																																						ENST00000367290.5																			0											c.(2014-2016)gTg>gGg		coiled-coil domain containing 170							133.0	135.0	134.0					6																	151939128		2019	4174	6193	SO:0001583	missense	80129							g.chr6:151939128T>G	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.1994T>G	6.37:g.151939128T>G	ENSP00000239374:p.Val665Gly					CCDC170_ENST00000239374.7_Missense_Mutation_p.V665G	p.V672G			Q8IYT3	CF097_HUMAN			11	2104	+			665					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.2015T>G	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	T	16.85	3.237480	0.58886	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.10382	2.88;2.88	5.96	5.96	0.96718	.	1.008230	0.07950	N	0.980760	T	0.11879	0.0289	L	0.38175	1.15	0.45822	D	0.998696	D	0.55385	0.971	P	0.51453	0.67	T	0.03325	-1.1048	10	0.87932	D	0	-4.5932	16.4381	0.83884	0.0:0.0:0.0:1.0	.	665	Q8IYT3	CF097_HUMAN	G	665;672	ENSP00000239374:V665G;ENSP00000356259:V672G	ENSP00000239374:V665G	V	+	2	0	C6orf97	151980821	0.968000	0.33430	0.392000	0.26245	0.199000	0.23934	2.980000	0.49321	2.280000	0.76307	0.533000	0.62120	GTG		0.438	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		20	79	0	0	0	0.008871	0	20	79				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	5	1	0	0.004672	0.004672	0.00716373	3	5				
MCM10	55388	broad.mit.edu	37	10	13213015	13213015	+	Missense_Mutation	SNP	G	G	A	rs150335901		TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr10:13213015G>A	ENST00000484800.2	+	3	204	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	MCM10_ENST00000378694.1_Missense_Mutation_p.R34Q|MCM10_ENST00000378714.3_Missense_Mutation_p.R34Q			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	34	N-terminal domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TTCTTGACGCGGGAAAATGGC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19268	0.0		0.0	False		,,,				2504	0.0					ENST00000378694.1																			0				central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						c.(100-102)cGg>cAg		minichromosome maintenance complex component 10		G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	131.0	135.0	134.0		101,101	2.1	0.0	10	dbSNP_134	134	0,8600		0,0,4300	yes	missense,missense	MCM10	NM_018518.4,NM_182751.2	43,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	34/875,34/876	13213015	1,13005	2203	4300	6503	SO:0001583	missense	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13213015G>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.101G>A	10.37:g.13213015G>A	ENSP00000418268:p.Arg34Gln					MCM10_ENST00000484800.2_Missense_Mutation_p.R34Q|MCM10_ENST00000378714.3_Missense_Mutation_p.R34Q	p.R34Q			Q7L590	MCM10_HUMAN			2	176	+			34					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	37	c.101G>A	CCDS7096.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.025	-1.376880	0.01214	2.27E-4	0.0	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.13089	2.62;2.62;2.62	5.7	2.06	0.26882	.	0.509940	0.19624	N	0.109829	T	0.02727	0.0082	N	0.00707	-1.245	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41945	-0.9480	10	0.10636	T	0.68	-10.2955	3.4039	0.07333	0.6472:0.0:0.1795:0.1733	.	34;34;34	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	Q	34	ENSP00000367986:R34Q;ENSP00000418268:R34Q;ENSP00000367966:R34Q	ENSP00000354945:R34Q	R	+	2	0	MCM10	13253021	0.011000	0.17503	0.029000	0.17559	0.005000	0.04900	0.071000	0.14594	0.392000	0.25172	-0.294000	0.09567	CGG		0.488	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		5	195	0	0	0	0.021553	0	5	195				
RP11-254I22.1	0	broad.mit.edu	37	5	95414786	95414787	+	lincRNA	INS	-	-	TAAAA	rs34328926|rs80243332|rs60523167|rs5869706	byFrequency	TCGA-EM-A3AJ-01A-11D-A202-08	TCGA-EM-A3AJ-10A-01D-A202-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a57a666a-7a35-44c2-b805-ff1794f0526a	3919bfff-dedc-4025-87d7-6f8b2ab2c8a3	g.chr5:95414786_95414787insTAAAA	ENST00000507997.1	+	0	87				CTD-2337A12.1_ENST00000511775.1_RNA|CTD-2337A12.1_ENST00000502645.2_RNA|MIR583_ENST00000384846.1_RNA																							acccatgcacttaaagttaaaa	0.361														2975	0.59405	0.7156	0.4813	5008	,	,		22499	0.495		0.6362	False		,,,				2504	0.5685					ENST00000507997.1																			0																	2353,1165		895,563,301						0.2	0.1		dbSNP_114	36	3841,2837		1367,1107,865	no	intergenic				2262,1670,1166	A1A1,A1R,RR		42.4828,33.1154,39.2507				6194,4002						0							g.chr5:95414786_95414787insTAAAA																													5.37:g.95414786_95414787insTAAAA						CTD-2337A12.1_ENST00000502645.2_RNA|CTD-2337A12.1_ENST00000511775.1_RNA								0	87	+									RNA	INS	ENST00000507997.1	37																																																																																						0.361	RP11-254I22.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000370578.1			4	2						4	2	---	---	---	---
