#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
ATP2C1	27032	broad.mit.edu	37	3	130698121	130698121	+	Silent	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:130698121G>T	ENST00000510168.1	+	19	2149	c.1599G>T	c.(1597-1599)ctG>ctT	p.L533L	ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000533801.2_Silent_p.L528L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000359644.3_Silent_p.L533L			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	533					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTCCTGAACTGGGACAGCTGA	0.383									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1																			0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1597-1599)ctG>ctT		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)						133.0	129.0	130.0					3																	130698121		2203	4300	6503	SO:0001819	synonymous_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130698121G>T	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	ENST00000510168.1:c.1599G>T	3.37:g.130698121G>T						ATP2C1_ENST00000507488.2_Silent_p.L517L|ATP2C1_ENST00000328560.8_Silent_p.L533L|ATP2C1_ENST00000422190.2_Silent_p.L533L|ATP2C1_ENST00000428331.2_Silent_p.L533L|ATP2C1_ENST00000508532.1_Silent_p.L533L|ATP2C1_ENST00000393221.4_Silent_p.L567L|ATP2C1_ENST00000359644.3_Silent_p.L533L|ATP2C1_ENST00000513801.1_Silent_p.L517L|ATP2C1_ENST00000505330.1_Silent_p.L517L|ATP2C1_ENST00000504381.1_Silent_p.L478L|ATP2C1_ENST00000504948.1_Silent_p.L517L|ATP2C1_ENST00000533801.2_Silent_p.L528L	p.L533L			P98194	AT2C1_HUMAN			19	2149	+			533					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Silent	SNP	ENST00000510168.1	37	c.1599G>T	CCDS46914.1	.	.	.	.	.	.	.	.	.	.	G	9.135	1.012284	0.19277	.	.	ENSG00000017260	ENST00000504612	.	.	.	5.68	3.76	0.43208	.	.	.	.	.	T	0.56717	0.2004	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53422	-0.8441	4	.	.	.	.	7.7177	0.28715	0.0778:0.0:0.5184:0.4038	.	.	.	.	L	487	.	.	W	+	2	0	ATP2C1	132180811	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.648000	0.46647	1.366000	0.46076	0.655000	0.94253	TGG		0.383	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	NM_001001486		17	111	1	0	1.02788e-11	1	1.08198e-11	17	111				
ZC3H13	23091	broad.mit.edu	37	13	46577302	46577302	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:46577302G>A	ENST00000242848.4	-	8	1264	c.916C>T	c.(916-918)Cga>Tga	p.R306*	ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306*			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	306							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R306*(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCTCTTTGTCGTTCAAAATCT	0.318																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			1	Substitution - Nonsense(1)	p.R306*(1)	large_intestine(1)	cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(916-918)Cga>Tga		zinc finger CCCH-type containing 13							194.0	183.0	186.0					13																	46577302		2203	4300	6503	SO:0001587	stop_gained	23091						nucleic acid binding|zinc ion binding	g.chr13:46577302G>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.916C>T	13.37:g.46577302G>A	ENSP00000242848:p.Arg306*					ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Nonsense_Mutation_p.R306*	p.R306*			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	8	1264	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	306					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Nonsense_Mutation	SNP	ENST00000242848.4	37	c.916C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.186790	0.98696	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	.	.	.	5.62	4.44	0.53790	.	0.087453	0.49305	D	0.000143	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.177	0.59633	0.0:0.0:0.1347:0.8653	.	.	.	.	X	306;306;122	.	ENSP00000242848:R306X	R	-	1	2	ZC3H13	45475303	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.715000	0.68430	1.069000	0.40788	-0.256000	0.11100	CGA		0.318	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		10	74	0	0	0	1	0	10	74				
MYH13	8735	broad.mit.edu	37	17	10222452	10222452	+	Silent	SNP	C	C	T	rs529605906	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:10222452C>T	ENST00000418404.3	-	26	3556	c.3393G>A	c.(3391-3393)acG>acA	p.T1131T	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.T1131T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1131					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGCTCTGAGCGTGTGTTCCG	0.557													C|||	3	0.000599042	0.0	0.0	5008	,	,		18780	0.0		0.0	False		,,,				2504	0.0031					ENST00000418404.3																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(3391-3393)acG>acA		myosin, heavy chain 13, skeletal muscle																																				SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10222452C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3393G>A	17.37:g.10222452C>T						MYH13_ENST00000570743.1_Silent_p.T1131T|MYH13_ENST00000252172.4_Silent_p.T1131T	p.T1131T			Q9UKX3	MYH13_HUMAN			26	3556	-			1131					O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.3393G>A	CCDS45613.1																																																																																				0.557	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		33	61	0	0	0	1	0	33	61				
CHRNB2	1141	broad.mit.edu	37	1	154543704	154543704	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:154543704C>T	ENST00000368476.3	+	5	669	c.405C>T	c.(403-405)gcC>gcT	p.A135A		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	135					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ATTCCAATGCCGTGGTCTCCT	0.532																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(403-405)gcC>gcT		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						132.0	121.0	125.0					1																	154543704		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543704C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.405C>T	1.37:g.154543704C>T							p.A135A	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	669	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		135					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.405C>T	CCDS1070.1																																																																																				0.532	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		33	77	0	0	0	1	0	33	77				
LTBP3	4054	broad.mit.edu	37	11	65310638	65310638	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:65310638T>G	ENST00000301873.5	-	18	2802	c.2534A>C	c.(2533-2535)aAt>aCt	p.N845T	LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	845	Cys-rich.|EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						GTAGGAGCCATTGGTATTGAT	0.577																																						ENST00000301873.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						c.(2533-2535)aAt>aCt		latent transforming growth factor beta binding protein 3							127.0	111.0	116.0					11																	65310638		2201	4297	6498	SO:0001583	missense	4054					extracellular region	calcium ion binding|growth factor binding	g.chr11:65310638T>G	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2534A>C	11.37:g.65310638T>G	ENSP00000301873:p.Asn845Thr					LTBP3_ENST00000536982.1_Missense_Mutation_p.N471T|LTBP3_ENST00000322147.4_Missense_Mutation_p.N845T|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000532932.1_Missense_Mutation_p.N275T|LTBP3_ENST00000529189.1_5'UTR	p.N845T	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN			18	2802	-			845			Cys-rich.|EGF-like 8; calcium-binding (Potential).		O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	ENST00000301873.5	37	c.2534A>C	CCDS44647.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.65|11.65	1.701075|1.701075	0.30142|0.30142	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.91894|.	-2.93;-2.93;-2.93;-2.93;-2.93|.	4.23|4.23	4.23|4.23	0.50019|0.50019	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.261494|.	0.39407|.	N|.	0.001375|.	T|T	0.30696|0.30696	0.0773|0.0773	N|N	0.25286|0.25286	0.73|0.73	0.27152|0.27152	N|N	0.961385|0.961385	P;P;P;P;P;P|.	0.52170|.	0.698;0.951;0.488;0.454;0.622;0.536|.	B;P;B;B;B;B|.	0.50109|.	0.2;0.631;0.101;0.104;0.275;0.288|.	T|T	0.17501|0.17501	-1.0367|-1.0367	10|5	0.14656|.	T|.	0.56|.	.|.	7.8791|7.8791	0.29612|0.29612	0.0:0.0:0.2102:0.7898|0.0:0.0:0.2102:0.7898	.|.	756;471;728;845;845;275|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	T|H	845;845;275;471;756|495	ENSP00000326647:N845T;ENSP00000301873:N845T;ENSP00000435530:N275T;ENSP00000441912:N471T;ENSP00000435276:N756T|.	ENSP00000301873:N845T|.	N|Q	-|-	2|3	0|2	LTBP3|LTBP3	65067214|65067214	0.469000|0.469000	0.25846|0.25846	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	0.498000|0.498000	0.22530|0.22530	1.543000|1.543000	0.49345|0.49345	0.363000|0.363000	0.22086|0.22086	AAT|CAA		0.577	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390538.1	NM_021070		5	74	0	0	0	1	0	5	74				
AMZ1	155185	broad.mit.edu	37	7	2752291	2752291	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr7:2752291G>T	ENST00000312371.4	+	7	1644	c.1276G>T	c.(1276-1278)Gac>Tac	p.D426Y	AMZ1_ENST00000407112.1_3'UTR|AMZ1_ENST00000489665.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	426							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCAGAGGAGGACCTGGTGCA	0.697																																						ENST00000312371.4																			0				breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16						c.(1276-1278)Gac>Tac		archaelysin family metallopeptidase 1							46.0	44.0	45.0					7																	2752291		2202	4298	6500	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2752291G>T	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.1276G>T	7.37:g.2752291G>T	ENSP00000308149:p.Asp426Tyr					AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR	p.D426Y	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	7	1644	+		Ovarian(82;0.0779)	426					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.1276G>T	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.561899	0.27915	.	.	ENSG00000174945	ENST00000312371	T	0.25085	1.82	4.67	4.67	0.58626	.	0.102732	0.42294	D	0.000738	T	0.16085	0.0387	N	0.08118	0	0.80722	D	1	B	0.18166	0.026	B	0.19666	0.026	T	0.07404	-1.0774	10	0.87932	D	0	-26.0979	15.3648	0.74513	0.0:0.0:1.0:0.0	.	426	Q400G9	AMZ1_HUMAN	Y	426	ENSP00000308149:D426Y	ENSP00000308149:D426Y	D	+	1	0	AMZ1	2718817	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	3.363000	0.52321	2.133000	0.65898	0.462000	0.41574	GAC		0.697	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		20	6	1	0	5.03518e-11	1	5.20881e-11	20	6				
GRIP2	80852	broad.mit.edu	37	3	14545076	14545076	+	RNA	SNP	C	C	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:14545076C>A	ENST00000273083.3	-	0	2741							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCCATACCTCCAGTTCCCTC	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2							28.0	32.0	31.0					3																	14545076		2107	4211	6318			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14545076C>A	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14545076C>A										Q9C0E4	GRIP2_HUMAN			0	2741	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		5	12	1	0	0.014758	1	0.014758	5	12				
TBP	6908	broad.mit.edu	37	6	170871085	170871085	+	Silent	SNP	G	G	A	rs566225355	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr6:170871085G>A	ENST00000392092.2	+	3	540	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	87	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617													G|||	12	0.00239617	0.0015	0.0029	5008	,	,		13588	0.005		0.002	False		,,,				2504	0.001					ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(259-261)caG>caA		TATA box binding protein																																				SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871085G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.261G>A	6.37:g.170871085G>A						TBP_ENST00000540980.1_Silent_p.Q67Q|TBP_ENST00000230354.6_Silent_p.Q87Q	p.Q87Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	540	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	87			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.261G>A	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	35	0	0	0	1	0	4	35				
PDGFD	80310	broad.mit.edu	37	11	103870820	103870820	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:103870820G>T	ENST00000393158.2	-	2	467	c.288C>A	c.(286-288)gaC>gaA	p.D96E	PDGFD_ENST00000302251.5_Missense_Mutation_p.D90E			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	96	CUB. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAAACTGATTGTCAAACACTA	0.418																																						ENST00000302251.5																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23						c.(268-270)gaC>gaA		platelet derived growth factor D							123.0	123.0	123.0					11																	103870820		2202	4299	6501	SO:0001583	missense	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103870820G>T	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.288C>A	11.37:g.103870820G>T	ENSP00000376865:p.Asp96Glu					PDGFD_ENST00000393158.2_Missense_Mutation_p.D96E	p.D90E	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	2	721	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	96			CUB.		A8K9T6|Q9BWV5	Missense_Mutation	SNP	ENST00000393158.2	37	c.270C>A	CCDS41703.1	.	.	.	.	.	.	.	.	.	.	G	10.98	1.504243	0.26949	.	.	ENSG00000170962	ENST00000393158;ENST00000302251;ENST00000529268	T;T;T	0.16073	2.37;2.37;2.37	5.55	3.65	0.41850	CUB (5);	0.095784	0.64402	D	0.000002	T	0.28599	0.0708	L	0.41236	1.265	0.48040	D	0.999577	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.01316	-1.1387	10	0.40728	T	0.16	-28.3284	9.4403	0.38664	0.2504:0.0:0.7496:0.0	.	96;90	Q9GZP0;Q9GZP0-2	PDGFD_HUMAN;.	E	96;90;119	ENSP00000376865:D96E;ENSP00000302193:D90E;ENSP00000432909:D119E	ENSP00000302193:D90E	D	-	3	2	PDGFD	103376030	0.994000	0.37717	1.000000	0.80357	0.042000	0.13812	1.365000	0.34182	1.484000	0.48361	0.561000	0.74099	GAC		0.418	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208		34	55	1	0	3.11337e-16	1	3.33576e-16	34	55				
CA9	768	broad.mit.edu	37	9	35676348	35676348	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr9:35676348C>T	ENST00000378357.4	+	5	906	c.802C>T	c.(802-804)Cgc>Tgc	p.R268C	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	268	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GGCCTTGGGGCGCCCGGGAGG	0.647																																						ENST00000378357.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17						c.(802-804)Cgc>Tgc		carbonic anhydrase IX							118.0	123.0	121.0					9																	35676348		2203	4300	6503	SO:0001583	missense	768				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	g.chr9:35676348C>T	X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.802C>T	9.37:g.35676348C>T	ENSP00000367608:p.Arg268Cys					CA9_ENST00000493245.1_Intron	p.R268C	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		5	906	+	all_epithelial(49;0.217)		268			Catalytic.		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	c.802C>T	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.962008	0.53400	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.53857	0.6	4.85	4.85	0.62838	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.199693	0.33457	N	0.004885	T	0.67970	0.2950	M	0.62723	1.935	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.70016	0.952;0.967	T	0.70447	-0.4869	10	0.87932	D	0	.	13.6467	0.62286	0.0:1.0:0.0:0.0	.	268;268	F5H404;Q16790	.;CAH9_HUMAN	C	268	ENSP00000367608:R268C	ENSP00000367608:R268C	R	+	1	0	CA9	35666348	0.121000	0.22262	0.999000	0.59377	0.026000	0.11368	1.123000	0.31308	2.676000	0.91093	0.655000	0.94253	CGC		0.647	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1	NM_001216		5	151	0	0	0	1	0	5	151				
RAD51D	5892	broad.mit.edu	37	17	33430506	33430506	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:33430506C>T	ENST00000345365.6	-	7	889	c.634G>A	c.(634-636)Gtt>Att	p.V212I	RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN	RAD51 paralog D	212					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|reciprocal meiotic recombination (GO:0007131)|strand invasion (GO:0042148)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|gamma-tubulin binding (GO:0043015)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						AGTGGGGAAACCACCGCAGTG	0.582								Direct reversal of damage																														ENST00000345365.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(634-636)Gtt>Att	Direct reversal of damage	RAD51 paralog D							108.0	91.0	96.0					17																	33430506		2203	4300	6503	SO:0001583	missense	5892				DNA repair|reciprocal meiotic recombination	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding	g.chr17:33430506C>T	AF034956	CCDS11287.1, CCDS11288.1, CCDS45646.1	17q11	2014-09-17	2013-07-02	2011-07-01	ENSG00000185379	ENSG00000185379			9823	protein-coding gene	gene with protein product	"""recombination repair protein"", ""DNA repair protein RAD51 homolog 4"""	602954	"""RAD51 (S. cerevisiae)-like 3"", ""RAD51-like 3 (S. cerevisiae)"", ""RAD51 homolog D (S. cerevisiae)"""	RAD51L3		9570954	Standard	NM_001142571		Approved	R51H3, Trad, HsTRAD	uc010ctj.2	O75771	OTTHUMG00000132930	ENST00000345365.6:c.634G>A	17.37:g.33430506C>T	ENSP00000338790:p.Val212Ile					RAD51D_ENST00000590016.1_Missense_Mutation_p.V232I|RAD51D_ENST00000394589.4_Missense_Mutation_p.V212I|RAD51D_ENST00000460118.2_Missense_Mutation_p.V93I|RAD51D_ENST00000360276.3_Missense_Mutation_p.V167I|RAD51D_ENST00000590380.1_5'UTR|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.V53I|RAD51D_ENST00000335858.7_Missense_Mutation_p.V100I	p.V212I	NM_002878.3	NP_002869.3	O75771	RA51D_HUMAN			7	889	-			212					B4DJU7|E1P637|O43537|O60355|O75196|O75847|O75848|O76073|O76085|O94908|Q9UFU5	Missense_Mutation	SNP	ENST00000345365.6	37	c.634G>A	CCDS11287.1	.	.	.	.	.	.	.	.	.	.	C	11.76	1.736156	0.30774	.	.	ENSG00000185379	ENST00000345365;ENST00000394589;ENST00000335858;ENST00000360276;ENST00000345766;ENST00000418935	T;T	0.66099	1.11;-0.19	5.05	4.08	0.47627	DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	0.247806	0.41396	N	0.000895	T	0.49150	0.1540	L	0.43152	1.355	0.80722	D	1	B;B;B;B	0.21688	0.059;0.049;0.0;0.002	B;B;B;B	0.24974	0.057;0.013;0.005;0.004	T	0.37911	-0.9685	10	0.20519	T	0.43	-19.3575	6.8472	0.23994	0.0:0.7292:0.1777:0.0931	.	232;100;212;212	B4DJU7;O75771-3;O75771;F8W8E6	.;.;RA51D_HUMAN;.	I	212;232;212;167;100;212	ENSP00000338790:V212I;ENSP00000353417:V167I	ENSP00000338408:V212I	V	-	1	0	RAD51D	30454619	0.976000	0.34144	0.992000	0.48379	0.834000	0.47266	0.875000	0.28079	1.366000	0.46076	0.591000	0.81541	GTT		0.582	RAD51D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256446.1	NM_002878		13	22	0	0	0	1	0	13	22				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	17	0	0	0	1	0	3	17				
MUC16	94025	broad.mit.edu	37	19	9046680	9046680	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:9046680G>A	ENST00000397910.4	-	5	35154	c.34951C>T	c.(34951-34953)Cct>Tct	p.P11651S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11653	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGAGAAGGAGTCAAAGTT	0.512																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(34951-34953)Cct>Tct		mucin 16, cell surface associated							154.0	151.0	152.0					19																	9046680		2085	4217	6302	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046680G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34951C>T	19.37:g.9046680G>A	ENSP00000381008:p.Pro11651Ser						p.P11651S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			5	35154	-			11653			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34951C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.031	-0.199657	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.02015	4.5	3.0	-5.99	0.02213	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	.	.	.	B	0.22080	0.064	B	0.25506	0.061	T	0.48328	-0.9045	8	0.87932	D	0	.	2.9455	0.05845	0.1047:0.1367:0.4188:0.3398	.	11651	B5ME49	.	S	11651	ENSP00000381008:P11651S	ENSP00000381008:P11651S	P	-	1	0	MUC16	8907680	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-3.605000	0.00417	-2.538000	0.00487	-0.743000	0.03520	CCT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9	116	0	0	0	1	0	9	116				
IFIT2	3433	broad.mit.edu	37	10	91066938	91066938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr10:91066938G>A	ENST00000371826.3	+	2	1394	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	409					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGGGAGAAAGAAAAGATGAA	0.408																																						ENST00000371826.3																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12						c.(1225-1227)Gaa>Aaa		interferon-induced protein with tetratricopeptide repeats 2							110.0	101.0	104.0					10																	91066938		1830	4095	5925	SO:0001583	missense	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066938G>A	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.1225G>A	10.37:g.91066938G>A	ENSP00000360891:p.Glu409Lys					LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	p.E409K	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN			2	1394	+		Colorectal(252;0.0161)	409					Q5T767	Missense_Mutation	SNP	ENST00000371826.3	37	c.1225G>A	CCDS41548.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622142	0.28889	.	.	ENSG00000119922	ENST00000371826	T	0.14144	2.53	4.58	3.66	0.41972	.	0.806535	0.10916	N	0.619985	T	0.12689	0.0308	L	0.45051	1.395	0.09310	N	1	B	0.27498	0.18	B	0.20577	0.03	T	0.16719	-1.0393	10	0.28530	T	0.3	3.0E-4	11.3624	0.49651	0.1581:0.0:0.8419:0.0	.	409	P09913	IFIT2_HUMAN	K	409	ENSP00000360891:E409K	ENSP00000360891:E409K	E	+	1	0	IFIT2	91056918	0.000000	0.05858	0.554000	0.28268	0.080000	0.17528	0.806000	0.27126	1.498000	0.48600	0.655000	0.94253	GAA		0.408	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		30	60	0	0	0	1	0	30	60				
SPECC1	92521	broad.mit.edu	37	17	20224905	20224905	+	IGR	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:20224905C>T	ENST00000395530.2	+	0	8133				AC004702.2_ENST00000580225.1_lincRNA|CCDC144CP_ENST00000340196.4_RNA|U6_ENST00000517027.1_RNA	NM_001033555.2	NP_001028727.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1						cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GGTCGGGCGACGTCCCTGGGG	0.652																																						ENST00000580225.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:20224905C>T	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808		17.37:g.20224905C>T						CCDC144CP_ENST00000340196.4_RNA								0	105	+								B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	RNA	SNP	ENST00000395530.2	37		CCDS42281.1																																																																																				0.652	SPECC1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132368.3	NM_152904		6	209	0	0	0	1	0	6	209				
NELL1	4745	broad.mit.edu	37	11	20869195	20869195	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:20869195G>A	ENST00000357134.5	+	4	554	c.402G>A	c.(400-402)aaG>aaA	p.K134K	NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000325319.5_Intron|NELL1_ENST00000298925.5_Silent_p.K162K	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	134	Laminin G-like.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ACAATGGGAAGCCAAGGACAG	0.463																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.(484-486)aaG>aaA		NEL-like 1 (chicken)							243.0	170.0	195.0					11																	20869195		2203	4300	6503	SO:0001819	synonymous_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20869195G>A	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.402G>A	11.37:g.20869195G>A						NELL1_ENST00000325319.5_Intron|NELL1_ENST00000532434.1_Silent_p.K134K|NELL1_ENST00000357134.5_Silent_p.K134K	p.K162K			Q92832	NELL1_HUMAN			5	639	+			134			TSP N-terminal.		B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Silent	SNP	ENST00000357134.5	37	c.486G>A	CCDS7855.1																																																																																				0.463	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157		13	24	0	0	0	1	0	13	24				
NALCN	259232	broad.mit.edu	37	13	101944688	101944688	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:101944688C>T	ENST00000251127.6	-	8	910	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A277T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	277					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCTGTGAGGCGGCCTCATAG	0.458																																						ENST00000251127.6																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(829-831)Gcc>Acc		sodium leak channel, non-selective							70.0	60.0	64.0					13																	101944688		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944688C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.829G>A	13.37:g.101944688C>T	ENSP00000251127:p.Ala277Thr					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.A277T	p.A277T	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	910	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		277					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.829G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125483	0.77436	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98602	-5.02;-5.02	6.16	4.36	0.52297	Ion transport (1);	0.097291	0.64402	D	0.000001	D	0.98931	0.9637	M	0.86805	2.84	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.69824	0.943;0.966	D	0.98860	1.0762	10	0.54805	T	0.06	.	15.5108	0.75779	0.2434:0.7566:0.0:0.0	.	277;277	F2Z323;Q8IZF0	.;NALCN_HUMAN	T	277	ENSP00000251127:A277T;ENSP00000365367:A277T	ENSP00000251127:A277T	A	-	1	0	NALCN	100742689	1.000000	0.71417	0.029000	0.17559	0.642000	0.38348	4.717000	0.61923	0.851000	0.35264	0.650000	0.86243	GCC		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		14	30	0	0	0	1	0	14	30				
SORCS2	57537	broad.mit.edu	37	4	7741958	7741958	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:7741958C>T	ENST00000507866.2	+	27	3556	c.3447C>T	c.(3445-3447)aaC>aaT	p.N1149N	SORCS2_ENST00000329016.9_Silent_p.N992N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	1149					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGAGCATCAACTCCCGAGAGA	0.612																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3445-3447)aaC>aaT		sortilin-related VPS10 domain containing receptor 2							47.0	52.0	50.0					4																	7741958		2073	4195	6268	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7741958C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.3447C>T	4.37:g.7741958C>T						SORCS2_ENST00000329016.9_Silent_p.N992N	p.N1149N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			27	3556	+			1149					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.3447C>T	CCDS47008.1																																																																																				0.612	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	9	0	0	0	1	0	7	9				
EFNA3	1944	broad.mit.edu	37	1	155057707	155057707	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:155057707T>C	ENST00000368408.3	+	2	339	c.269T>C	c.(268-270)aTg>aCg	p.M90T	EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T|EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	90	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTGCTGTACATGGTGAGCCGC	0.677																																						ENST00000368408.3																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5						c.(268-270)aTg>aCg		ephrin-A3							17.0	20.0	19.0					1																	155057707		2198	4295	6493	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155057707T>C	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.269T>C	1.37:g.155057707T>C	ENSP00000357393:p.Met90Thr					EFNA3_ENST00000505139.1_Missense_Mutation_p.M85T|EFNA3_ENST00000556931.1_Missense_Mutation_p.M85T|EFNA3_ENST00000418360.2_Missense_Mutation_p.M90T	p.M90T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	339	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		90					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.269T>C	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.412972	0.62511	.	.	ENSG00000143590;ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000418360;ENST00000505139	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	5.38	5.38	0.77491	Cupredoxin (2);	0.000000	0.85682	D	0.000000	D	0.96571	0.8881	M	0.88105	2.93	0.58432	D	0.999995	D;D;D	0.76494	0.977;0.999;0.996	D;D;D	0.85130	0.979;0.997;0.993	D	0.97398	0.9994	10	0.87932	D	0	-3.4517	13.3327	0.60497	0.0:0.0:0.0:1.0	.	90;85;90	B7ZAD3;B4DXG7;P52797	.;.;EFNA3_HUMAN	T	85;90;90;85	ENSP00000450814:M85T;ENSP00000357393:M90T;ENSP00000391370:M90T;ENSP00000426741:M85T	ENSP00000357393:M90T	M	+	2	0	RP11-540D14.8;EFNA3	153324331	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.698000	0.84413	2.050000	0.60909	0.459000	0.35465	ATG		0.677	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		5	19	0	0	0	1	0	5	19				
WIF1	11197	broad.mit.edu	37	12	65461530	65461530	+	Silent	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:65461530A>G	ENST00000286574.4	-	5	953	c.579T>C	c.(577-579)aaT>aaC	p.N193N		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	193	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TGCGTCTTTCATTACAAAAGC	0.493			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	ENST00000286574.4				Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(577-579)aaT>aaC		WNT inhibitory factor 1							95.0	85.0	88.0					12																	65461530		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65461530A>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.579T>C	12.37:g.65461530A>G							p.N193N	NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	5	953	-			193			EGF-like 1.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.579T>C	CCDS8971.1																																																																																				0.493	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2			17	30	0	0	0	1	0	17	30				
EPB41L3	23136	broad.mit.edu	37	18	5410606	5410606	+	Missense_Mutation	SNP	G	G	A	rs143942399		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr18:5410606G>A	ENST00000341928.2	-	14	2420	c.2080C>T	c.(2080-2082)Cgc>Tgc	p.R694C	EPB41L3_ENST00000342933.3_Missense_Mutation_p.R694C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R525C|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R525C|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R525C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	694	Spectrin--actin-binding. {ECO:0000255}.				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGTCCGTGCGCTCACTGTCA	0.557																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2080-2082)Cgc>Tgc		erythrocyte membrane protein band 4.1-like 3		G	CYS/ARG	0,4406		0,0,2203	100.0	66.0	77.0		2080	5.2	1.0	18	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPB41L3	NM_012307.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	694/1088	5410606	1,13005	2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5410606G>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2080C>T	18.37:g.5410606G>A	ENSP00000343158:p.Arg694Cys					EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R525C|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R525C|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R525C|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R694C|EPB41L3_ENST00000542652.2_5'UTR	p.R694C	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			14	2420	-			694			Spectrin--actin-binding (Potential).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2080C>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247570	0.80024	0.0	1.16E-4	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000342933;ENST00000400111	D;D;D;D	0.83250	-1.66;-1.65;-1.66;-1.7	5.24	5.24	0.73138	.	0.331224	0.28834	N	0.013989	T	0.79131	0.4394	N	0.08118	0	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.99;0.994;0.991	P;P;B;P;B	0.56916	0.809;0.549;0.425;0.629;0.425	D	0.83744	0.0205	10	0.87932	D	0	.	14.5358	0.67960	0.0:0.0:0.8529:0.1471	.	525;86;416;525;694	F5GX05;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2	.;.;.;.;E41L3_HUMAN	C	694;416;525;416;694;525	ENSP00000343158:R694C;ENSP00000441174:R525C;ENSP00000341138:R694C;ENSP00000382981:R525C	ENSP00000343158:R694C	R	-	1	0	EPB41L3	5400606	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.223000	0.78033	2.453000	0.82957	0.591000	0.81541	CGC		0.557	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		14	12	0	0	0	1	0	14	12				
PRDM9	56979	broad.mit.edu	37	5	23524526	23524526	+	Missense_Mutation	SNP	G	G	A	rs200386479		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:23524526G>A	ENST00000296682.3	+	10	1216	c.1034G>A	c.(1033-1035)cGa>cAa	p.R345Q		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	345	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.R345L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAACCTGCCGAGTCATTAGG	0.552										HNSCC(3;0.000094)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17141	0.0		0.0	False		,,,				2504	0.0					ENST00000296682.3																			1	Substitution - Missense(1)	p.R345L(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1033-1035)cGa>cAa		PR domain containing 9		G	GLN/ARG	6,3804		0,6,1899	72.0	75.0	74.0		1034	1.1	0.4	5		74	0,8220		0,0,4110	no	missense	PRDM9	NM_020227.2	43	0,6,6009	AA,AG,GG		0.0,0.1575,0.0499	probably-damaging	345/895	23524526	6,12024	1905	4110	6015	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524526G>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1034G>A	5.37:g.23524526G>A	ENSP00000296682:p.Arg345Gln	HNSCC(3;0.000094)					p.R345Q	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			10	1216	+			345			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1034G>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990927	0.35131	0.001575	0.0	ENSG00000164256	ENST00000296682;ENST00000253473	D	0.91011	-2.77	4.23	1.13	0.20643	SET domain (2);	.	.	.	.	D	0.83695	0.5310	M	0.70903	2.155	0.43385	D	0.995498	P	0.48911	0.917	B	0.29663	0.105	T	0.77895	-0.2417	9	0.38643	T	0.18	-0.3004	6.8415	0.23965	0.3756:0.0:0.6244:0.0	.	345	Q9NQV7	PRDM9_HUMAN	Q	345;139	ENSP00000296682:R345Q	ENSP00000253473:R139Q	R	+	2	0	PRDM9	23560283	0.967000	0.33354	0.405000	0.26409	0.812000	0.45895	3.154000	0.50693	0.297000	0.22615	-0.493000	0.04662	CGA		0.552	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		15	51	0	0	0	1	0	15	51				
ZNF652	22834	broad.mit.edu	37	17	47394509	47394509	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:47394509C>G	ENST00000362063.2	-	2	897	c.579G>C	c.(577-579)agG>agC	p.R193S	ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	193					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			AGGCAGCTCTCCTGGTTCTCC	0.493																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(577-579)agG>agC		zinc finger protein 652							85.0	88.0	87.0					17																	47394509		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47394509C>G	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.579G>C	17.37:g.47394509C>G	ENSP00000354686:p.Arg193Ser					ZNF652_ENST00000430262.2_Missense_Mutation_p.R193S	p.R193S	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	897	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		193					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.579G>C	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.559283	0.45590	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	T;T	0.08807	3.05;3.05	5.22	5.22	0.72569	.	0.146243	0.64402	D	0.000008	T	0.07007	0.0178	L	0.29908	0.895	0.45580	D	0.998521	B	0.33694	0.421	B	0.25140	0.058	T	0.42413	-0.9453	10	0.15952	T	0.53	-14.0516	18.5632	0.91108	0.0:1.0:0.0:0.0	.	193	Q9Y2D9	ZN652_HUMAN	S	193	ENSP00000354686:R193S;ENSP00000416305:R193S	ENSP00000354686:R193S	R	-	3	2	ZNF652	44749508	0.581000	0.26741	0.996000	0.52242	0.971000	0.66376	0.149000	0.16243	2.715000	0.92844	0.655000	0.94253	AGG		0.493	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		4	85	0	0	0	1	0	4	85				
CD163	9332	broad.mit.edu	37	12	7653874	7653874	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:7653874G>A	ENST00000359156.4	-	3	520	c.318C>T	c.(316-318)tcC>tcT	p.S106S	CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000432237.2_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	106	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	AACCTGCACTGGAATTAGCCC	0.483																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(316-318)tcC>tcT		CD163 molecule							131.0	128.0	129.0					12																	7653874		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653874G>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.318C>T	12.37:g.7653874G>A						CD163_ENST00000396620.3_Silent_p.S106S|CD163_ENST00000541972.1_Silent_p.S94S|CD163_ENST00000432237.2_Silent_p.S106S	p.S106S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			3	520	-			106			SRCR 1.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.318C>T	CCDS8578.1																																																																																				0.483	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		50	56	0	0	0	1	0	50	56				
YEATS2	55689	broad.mit.edu	37	3	183493770	183493770	+	Silent	SNP	A	A	C	rs539213451		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:183493770A>C	ENST00000305135.5	+	18	2631	c.2436A>C	c.(2434-2436)ggA>ggC	p.G812G		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	812	Gly-rich.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gaggaggaggaggcggcagtg	0.582													a|||	1	0.000199681	0.0	0.0014	5008	,	,		12178	0.0		0.0	False		,,,				2504	0.0					ENST00000305135.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49						c.(2434-2436)ggA>ggC		YEATS domain containing 2																																				SO:0001819	synonymous_variant	55689				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	g.chr3:183493770A>C	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2436A>C	3.37:g.183493770A>C							p.G812G	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		18	2631	+	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		812			Gly-rich.		A7E2B9|D3DNS9|Q641P6|Q9NW96	Silent	SNP	ENST00000305135.5	37	c.2436A>C	CCDS43175.1																																																																																				0.582	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346507.2	NM_018023		3	42	0	0	0	1	0	3	42				
SMAD6	4091	broad.mit.edu	37	15	67073650	67073650	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:67073650G>A	ENST00000288840.5	+	4	2299	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	SMAD6_ENST00000338426.4_Missense_Mutation_p.R162H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	423	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|cell-substrate adhesion (GO:0031589)|fat cell differentiation (GO:0045444)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|response to estrogen (GO:0043627)|response to laminar fluid shear stress (GO:0034616)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity (GO:0030617)|type I activin receptor binding (GO:0070698)|type I transforming growth factor beta receptor binding (GO:0034713)|ubiquitin protein ligase binding (GO:0031625)			lung(1)|skin(1)	2						CCCGGCGGCCGCGCCCTGGTC	0.726																																					Esophageal Squamous(179;72 2004 22333 39628 47290)	ENST00000288840.5																			0				lung(1)|skin(1)	2						c.(1267-1269)cGc>cAc		SMAD family member 6							10.0	15.0	13.0					15																	67073650		2137	4148	6285	SO:0001583	missense	4091				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding	g.chr15:67073650G>A	BC012986	CCDS10221.1	15q22.31	2014-09-11	2006-11-06	2004-05-26	ENSG00000137834	ENSG00000137834		"""SMADs"""	6772	protein-coding gene	gene with protein product		602931	"""MAD, mothers against decapentaplegic homolog 6 (Drosophila)"", ""SMAD, mothers against DPP homolog 6 (Drosophila)"""	MADH7, MADH6		9256479	Standard	NR_027654		Approved	HsT17432	uc002aqf.3	O43541	OTTHUMG00000133218	ENST00000288840.5:c.1268G>A	15.37:g.67073650G>A	ENSP00000288840:p.Arg423His					SMAD6_ENST00000338426.4_Missense_Mutation_p.R162H	p.R423H	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN			4	2299	+			423			MH2.		A9J6M5|O43654|Q15799|Q7Z7L4|Q96E31|Q9UKZ3	Missense_Mutation	SNP	ENST00000288840.5	37	c.1268G>A	CCDS10221.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236699	0.79800	.	.	ENSG00000137834	ENST00000288840;ENST00000338426	D;D	0.98792	-4.24;-5.14	5.62	5.62	0.85841	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98535	0.9511	L	0.39397	1.21	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.976;0.987	D	0.98662	1.0684	10	0.30854	T	0.27	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	162;423	O43541-2;O43541	.;SMAD6_HUMAN	H	423;162	ENSP00000288840:R423H;ENSP00000345054:R162H	ENSP00000288840:R423H	R	+	2	0	SMAD6	64860704	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.685000	0.98661	2.651000	0.90000	0.491000	0.48974	CGC		0.726	SMAD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256953.2	NM_005585		3	12	0	0	0	1	0	3	12				
EPN1	29924	broad.mit.edu	37	19	56206217	56206217	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:56206217A>G	ENST00000270460.6	+	10	1701	c.1390A>G	c.(1390-1392)Acg>Gcg	p.T464A	AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA|AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000411543.2_Missense_Mutation_p.T550A|EPN1_ENST00000085079.7_Missense_Mutation_p.T438A	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	464	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		ACCAACTCCCACGCCCCCCAC	0.716																																						ENST00000411543.2																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17						c.(1648-1650)Acg>Gcg		epsin 1							17.0	28.0	25.0					19																	56206217		2053	4179	6232	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206217A>G	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1390A>G	19.37:g.56206217A>G	ENSP00000270460:p.Thr464Ala					EPN1_ENST00000085079.7_Missense_Mutation_p.T438A|EPN1_ENST00000270460.6_Missense_Mutation_p.T464A	p.T550A	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	2195	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	464			3 X 3 AA repeats of N-P-F.|Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1648A>G	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	A	3.436	-0.115166	0.06881	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.15139	2.49;2.46;2.45	4.57	3.54	0.40534	.	0.240857	0.33591	N	0.004744	T	0.07052	0.0179	N	0.05124	-0.11	0.51012	D	0.999903	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.13407	0.0;0.009;0.0;0.0	T	0.20472	-1.0274	10	0.08599	T	0.76	-7.8821	9.3784	0.38297	0.8054:0.1946:0.0:0.0	.	424;550;464;438	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	A	464;438;424;550	ENSP00000270460:T464A;ENSP00000085079:T438A;ENSP00000406209:T550A	ENSP00000085079:T438A	T	+	1	0	EPN1	60898029	0.318000	0.24598	0.531000	0.27976	0.242000	0.25591	1.122000	0.31295	0.889000	0.36185	0.459000	0.35465	ACG		0.716	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		10	11	0	0	0	1	0	10	11				
GZMK	3003	broad.mit.edu	37	5	54327292	54327292	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:54327292G>A	ENST00000231009.2	+	4	534	c.464G>A	c.(463-465)gGa>gAa	p.G155E	CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	155	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACTGGCTGGGGAGCCACCGAT	0.443																																						ENST00000231009.2																			0				autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15						c.(463-465)gGa>gAa		granzyme K (granzyme 3; tryptase II)							86.0	89.0	88.0					5																	54327292		2203	4300	6503	SO:0001583	missense	3003				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr5:54327292G>A	BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.464G>A	5.37:g.54327292G>A	ENSP00000231009:p.Gly155Glu					CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA	p.G155E	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN			4	534	+		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)	155			Peptidase S1.		B2R563	Missense_Mutation	SNP	ENST00000231009.2	37	c.464G>A	CCDS3964.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083239	0.76642	.	.	ENSG00000113088	ENST00000231009	D	0.93547	-3.24	5.16	4.27	0.50696	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.064055	0.64402	D	0.000007	D	0.98160	0.9392	H	0.99600	4.65	0.44309	D	0.997181	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	13.0868	0.59146	0.0807:0.0:0.9193:0.0	.	155	P49863	GRAK_HUMAN	E	155	ENSP00000231009:G155E	ENSP00000231009:G155E	G	+	2	0	GZMK	54363049	1.000000	0.71417	0.977000	0.42913	0.907000	0.53573	4.376000	0.59556	2.689000	0.91719	0.655000	0.94253	GGA		0.443	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		22	49	0	0	0	1	0	22	49				
SAP18	10284	broad.mit.edu	37	13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	rs376710499		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr13:21721465G>A	ENST00000607003.1	+	4	478	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SAP18_ENST00000382533.4_Missense_Mutation_p.R168H			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149	Involved in splicing regulation activity.				mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403																																						ENST00000382533.4																			1	Substitution - Missense(1)	p.R149H(1)	kidney(1)	kidney(1)|large_intestine(1)|lung(4)	6						c.(502-504)cGc>cAc		Sin3A-associated protein, 18kDa		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	109.0	107.0		503	4.1	1.0	13		107	0,8600		0,0,4300	no	missense	SAP18	NM_005870.4	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	168/173	21721465	1,13005	2203	4300	6503	SO:0001583	missense	10284				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	g.chr13:21721465G>A	U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.446G>A	13.37:g.21721465G>A	ENSP00000475925:p.Arg149His					SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	p.R168H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)	4	542	+		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)	149					B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	Missense_Mutation	SNP	ENST00000607003.1	37	c.503G>A		.	.	.	.	.	.	.	.	.	.	G	18.41	3.617576	0.66787	2.27E-4	0.0	ENSG00000150459	ENST00000382533	.	.	.	5.87	4.11	0.48088	.	0.141472	0.64402	D	0.000005	T	0.68559	0.3014	M	0.84683	2.71	0.58432	D	0.999997	B	0.14438	0.01	B	0.11329	0.006	T	0.66139	-0.5998	9	0.52906	T	0.07	-1.9179	10.9028	0.47062	0.0671:0.0:0.802:0.1309	.	149	O00422	SAP18_HUMAN	H	168	.	ENSP00000371973:R168H	R	+	2	0	SAP18	20619465	1.000000	0.71417	0.999000	0.59377	0.912000	0.54170	9.718000	0.98758	0.790000	0.33803	0.655000	0.94253	CGC		0.403	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470725.1	NM_005870		4	126	0	0	0	1	0	4	126				
VAPB	9217	broad.mit.edu	37	20	56993284	56993284	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr20:56993284G>A	ENST00000475243.1	+	2	414	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	26	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|endoplasmic reticulum unfolded protein response (GO:0030968)|modulation by virus of host morphology or physiology (GO:0019048)|positive regulation of viral genome replication (GO:0045070)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-tubulin binding (GO:0048487)|enzyme binding (GO:0019899)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|structural molecule activity (GO:0005198)			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			CACCGATGTTGTCACCACCAA	0.473																																						ENST00000475243.1																			0				kidney(2)|lung(3)|prostate(1)	6						c.(76-78)Gtc>Atc		VAMP (vesicle-associated membrane protein)-associated protein B and C							158.0	141.0	146.0					20																	56993284		2203	4300	6503	SO:0001583	missense	9217				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity	g.chr20:56993284G>A	AF086628	CCDS33498.1, CCDS56198.1	20q13	2014-09-17			ENSG00000124164	ENSG00000124164			12649	protein-coding gene	gene with protein product		605704				9920726	Standard	NM_004738		Approved	VAP-B, VAP-C, ALS8	uc002xza.3	O95292	OTTHUMG00000032840	ENST00000475243.1:c.76G>A	20.37:g.56993284G>A	ENSP00000417175:p.Val26Ile					VAPB_ENST00000265619.2_3'UTR|VAPB_ENST00000395802.3_Missense_Mutation_p.V26I	p.V26I	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)		2	414	+	Lung NSC(12;0.000615)|all_lung(29;0.00186)		26			MSP.		A2A2F2|O95293|Q9P0H0	Missense_Mutation	SNP	ENST00000475243.1	37	c.76G>A	CCDS33498.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009837	0.75046	.	.	ENSG00000124164	ENST00000475243;ENST00000395802	T;T	0.62941	-0.01;-0.01	6.16	6.16	0.99307	PapD-like (2);	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	L	0.52823	1.66	0.80722	D	1	D;B	0.67145	0.996;0.044	D;B	0.77557	0.99;0.031	T	0.75013	-0.3467	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	26;26	O95292-2;O95292	.;VAPB_HUMAN	I	26	ENSP00000417175:V26I;ENSP00000379147:V26I	ENSP00000379147:V26I	V	+	1	0	VAPB	56426690	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.813000	0.99286	2.937000	0.99478	0.650000	0.86243	GTC		0.473	VAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079875.2			4	116	0	0	0	1	0	4	116				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		6	39	0	0	0	1	0	6	39				
KIF5A	3798	broad.mit.edu	37	12	57957251	57957251	+	Silent	SNP	C	C	T	rs536777412		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:57957251C>T	ENST00000455537.2	+	2	433	c.159C>T	c.(157-159)ttC>ttT	p.F53F	KIF5A_ENST00000286452.5_Intron	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	53	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						ACCGTGTATTCCCCCCAAACA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22099	0.0		0.0	False		,,,				2504	0.0					ENST00000455537.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						c.(157-159)ttC>ttT		kinesin family member 5A							98.0	88.0	91.0					12																	57957251		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57957251C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.159C>T	12.37:g.57957251C>T						KIF5A_ENST00000286452.5_Intron	p.F53F	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN			2	433	+			53			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.159C>T	CCDS8945.1																																																																																				0.418	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	82	0	0	0	1	0	6	82				
ZBBX	79740	broad.mit.edu	37	3	167045902	167045902	+	Silent	SNP	T	T	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:167045902T>C	ENST00000392766.2	-	11	1030	c.690A>G	c.(688-690)gtA>gtG	p.V230V	ZBBX_ENST00000455345.2_Silent_p.V230V|ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	230						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTGTAATTTCTACCTAATTAA	0.323																																						ENST00000392766.2																			0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(688-690)gtA>gtG		zinc finger, B-box domain containing							153.0	137.0	142.0					3																	167045902		1838	4087	5925	SO:0001819	synonymous_variant	79740					intracellular	zinc ion binding	g.chr3:167045902T>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.690A>G	3.37:g.167045902T>C						ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000307529.5_Silent_p.V230V|ZBBX_ENST00000392767.2_Silent_p.V230V|ZBBX_ENST00000392764.1_Silent_p.V201V|ZBBX_ENST00000455345.2_Silent_p.V230V	p.V230V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN			11	1030	-			230					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Silent	SNP	ENST00000392766.2	37	c.690A>G	CCDS3199.2																																																																																				0.323	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		34	86	0	0	0	1	0	34	86				
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs200185441		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CM033749	AR	M	rs5902610	c.(172-174)cAg>cTg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						8.0	11.0	10.0					X																	66765161		2116	4153	6269	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765161A>T	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.173A>T	X.37:g.66765161A>T	ENSP00000363822:p.Gln58Leu					AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	697	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	58			Gln-rich.|Modulating.|Poly-Gln.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.173A>T	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	a	11.20	1.568808	0.28003	.	.	ENSG00000169083	ENST00000374690;ENST00000504326;ENST00000396044;ENST00000538891	T;T;T	0.69040	-0.37;-0.37;-0.37	.	.	.	.	0.157519	0.30235	N	0.010084	T	0.46541	0.1398	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.34313	0.448;0.448	B;B	0.36534	0.227;0.227	T	0.39800	-0.9596	8	0.62326	D	0.03	.	.	.	.	.	58;58	E7EVX6;D3YPQ2	.;.	L	58	ENSP00000363822:Q58L;ENSP00000421155:Q58L;ENSP00000379359:Q58L	ENSP00000363822:Q58L	Q	+	2	0	AR	66681886	0.997000	0.39634	0.872000	0.34217	0.495000	0.33615	1.386000	0.34419	0.000000	0.14550	0.000000	0.15137	CAG		0.667	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		3	14	0	0	0	1	0	3	14				
MAP2	4133	broad.mit.edu	37	2	210560413	210560413	+	Missense_Mutation	SNP	A	A	G	rs201672675		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:210560413A>G	ENST00000360351.4	+	7	4025	c.3519A>G	c.(3517-3519)atA>atG	p.I1173M	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1173					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CAGTGGAAATACCTTGCCCAC	0.443																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(3517-3519)atA>atG		microtubule-associated protein 2	Estramustine(DB01196)						69.0	64.0	66.0					2																	210560413		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210560413A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.3519A>G	2.37:g.210560413A>G	ENSP00000353508:p.Ile1173Met					MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.I1169M|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	p.I1173M	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	4025	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1173					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.3519A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	8.616	0.890356	0.17613	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.25414	1.8;1.8	5.83	-2.35	0.06684	MAP2/Tau projection (1);	0.410508	0.23026	N	0.052781	T	0.20007	0.0481	L	0.36672	1.1	0.09310	N	1	B;B	0.33826	0.374;0.427	B;P	0.45998	0.366;0.5	T	0.20273	-1.0280	10	0.45353	T	0.12	-7.0052	0.6765	0.00867	0.3451:0.2583:0.1101:0.2865	.	1169;1173	P11137-3;P11137	.;MAP2_HUMAN	M	1173;1169	ENSP00000353508:I1173M;ENSP00000392164:I1169M	ENSP00000353508:I1173M	I	+	3	3	MAP2	210268658	0.000000	0.05858	0.982000	0.44146	0.878000	0.50629	-0.440000	0.06888	-0.136000	0.11475	0.528000	0.53228	ATA		0.443	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		21	33	0	0	0	1	0	21	33				
S1PR4	8698	broad.mit.edu	37	19	3179125	3179125	+	Missense_Mutation	SNP	G	G	A	rs202230080	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:3179125G>A	ENST00000246115.3	+	1	390	c.335G>A	c.(334-336)cGt>cAt	p.R112H	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	112					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CGCACCTTCCGTCTGGCGCCC	0.677													G|||	4	0.000798722	0.0	0.0	5008	,	,		14277	0.003		0.0	False		,,,				2504	0.001				GBM(82;318 1638 33279 49708)	ENST00000246115.3																			0				breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						c.(334-336)cGt>cAt		sphingosine-1-phosphate receptor 4							25.0	26.0	25.0					19																	3179125		2180	4269	6449	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179125G>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.335G>A	19.37:g.3179125G>A	ENSP00000246115:p.Arg112His					S1PR4_ENST00000591346.1_Intron	p.R112H	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN			1	390	+			112					D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.335G>A	CCDS12105.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.78	2.041434	0.35989	.	.	ENSG00000125910	ENST00000246115	T	0.37235	1.21	3.7	-5.34	0.02705	GPCR, rhodopsin-like superfamily (1);	0.541619	0.18609	N	0.136208	T	0.22322	0.0538	L	0.51914	1.62	0.31344	N	0.683345	B	0.14012	0.009	B	0.10450	0.005	T	0.08371	-1.0725	10	0.27785	T	0.31	.	4.826	0.13416	0.4203:0.0:0.4437:0.1361	.	112	O95977	S1PR4_HUMAN	H	112	ENSP00000246115:R112H	ENSP00000246115:R112H	R	+	2	0	S1PR4	3130125	0.002000	0.14202	0.266000	0.24541	0.884000	0.51177	-0.263000	0.08670	-1.259000	0.02468	0.462000	0.41574	CGT		0.677	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		29	32	0	0	0	1	0	29	32				
ZNF536	9745	broad.mit.edu	37	19	30935474	30935474	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr19:30935474C>T	ENST00000355537.3	+	2	1152	c.1005C>T	c.(1003-1005)aaC>aaT	p.N335N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	335					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGGGCCCCAACGGCGGTGGCG	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1003-1005)aaC>aaT		zinc finger protein 536							84.0	96.0	92.0					19																	30935474		2203	4298	6501	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935474C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1005C>T	19.37:g.30935474C>T							p.N335N	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1152	+	Esophageal squamous(110;0.0834)		335					A2RU18	Silent	SNP	ENST00000355537.3	37	c.1005C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	137	0	0	0	1	0	6	137				
TKTL2	84076	broad.mit.edu	37	4	164394537	164394537	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr4:164394537G>A	ENST00000280605.3	-	1	510	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	117						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTCAACAAACGGCAATCGGGG	0.537																																						ENST00000280605.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70						c.(349-351)cCg>cTg		transketolase-like 2							101.0	88.0	92.0					4																	164394537		2203	4300	6503	SO:0001583	missense	84076					cytoplasm	metal ion binding|transketolase activity	g.chr4:164394537G>A	BC028707	CCDS3805.1	4q32.2	2009-10-06			ENSG00000151005	ENSG00000151005			25313	protein-coding gene	gene with protein product	"""similar to transketolase"""					11230166	Standard	NM_032136		Approved	FLJ32975, DKFZP434L1717	uc003iqp.4	Q9H0I9	OTTHUMG00000161527	ENST00000280605.3:c.350C>T	4.37:g.164394537G>A	ENSP00000280605:p.Pro117Leu						p.P117L	NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN			1	510	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	117					A4FVB4|Q8NCT0|Q96M82	Missense_Mutation	SNP	ENST00000280605.3	37	c.350C>T	CCDS3805.1	.	.	.	.	.	.	.	.	.	.	G	2.155	-0.393490	0.04899	.	.	ENSG00000151005	ENST00000280605	T	0.27557	1.66	3.75	2.01	0.26516	Transketolase, N-terminal (1);	0.795246	0.10911	N	0.620603	T	0.31857	0.0810	M	0.79011	2.435	0.09310	N	1	B	0.32425	0.371	B	0.33568	0.166	T	0.41752	-0.9491	10	0.66056	D	0.02	0.0087	2.5419	0.04728	0.1056:0.1883:0.5122:0.1939	.	117	Q9H0I9	TKTL2_HUMAN	L	117	ENSP00000280605:P117L	ENSP00000280605:P117L	P	-	2	0	TKTL2	164613987	0.484000	0.25964	0.001000	0.08648	0.013000	0.08279	3.206000	0.51098	0.556000	0.29098	-0.304000	0.09214	CCG		0.537	TKTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365207.1	NM_032136		20	43	0	0	0	1	0	20	43				
LMCD1	29995	broad.mit.edu	37	3	8579031	8579031	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:8579031C>T	ENST00000157600.3	+	3	524	c.292C>T	c.(292-294)Cgg>Tgg	p.R98W	LMCD1_ENST00000535732.1_Missense_Mutation_p.R98W|LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.R25W|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	98					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CAAGAGGAACCGGATGATCAT	0.537																																						ENST00000157600.3																			0				breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16						c.(292-294)Cgg>Tgg		LIM and cysteine-rich domains 1							144.0	150.0	148.0					3																	8579031		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8579031C>T	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.292C>T	3.37:g.8579031C>T	ENSP00000157600:p.Arg98Trp					LMCD1_ENST00000397386.3_Intron|LMCD1_ENST00000454244.1_Missense_Mutation_p.R25W|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000535732.1_Missense_Mutation_p.R98W	p.R98W	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	3	524	+			98					B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.292C>T	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.319912	0.81469	.	.	ENSG00000071282	ENST00000157600;ENST00000415597;ENST00000535732;ENST00000454244;ENST00000426878	D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18	5.75	3.93	0.45458	PET domain (1);	0.000000	0.64402	D	0.000003	D	0.91348	0.7271	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.90431	0.4424	10	0.66056	D	0.02	-26.7112	9.5353	0.39218	0.1429:0.783:0.0:0.0741	.	98;98	F5GX84;Q9NZU5	.;LMCD1_HUMAN	W	98;104;98;25;55	ENSP00000157600:R98W;ENSP00000400555:R104W;ENSP00000441100:R98W;ENSP00000396515:R25W;ENSP00000411222:R55W	ENSP00000157600:R98W	R	+	1	2	LMCD1	8554031	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.624000	0.67764	0.753000	0.32945	0.655000	0.94253	CGG		0.537	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		9	156	0	0	0	1	0	9	156				
KRT86	3892	broad.mit.edu	37	12	52700020	52700020	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr12:52700020C>T	ENST00000423955.2	+	9	1381	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	RP11-845M18.6_ENST00000552441.1_RNA|KRT86_ENST00000293525.5_Silent_p.I401I|KRT86_ENST00000544024.1_Silent_p.I401I			O43790	KRT86_HUMAN	keratin 86	401	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCTGGACATCGAGATCGCCA	0.627											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293525.5																			0				breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(1201-1203)atC>atT		keratin 86							72.0	73.0	73.0					12																	52700020		2203	4296	6499	SO:0001819	synonymous_variant	3892				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52700020C>T	X99142	CCDS41785.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000170442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6463	protein-coding gene	gene with protein product	"""hard keratin type II 6"""	601928	"""keratin, hair, basic, 6 (monilethrix)"""	KRTHB6		9241275, 16831889	Standard	NM_002284		Approved	MNX, Hb6	uc001sad.3	O43790		ENST00000423955.2:c.1203C>T	12.37:g.52700020C>T			OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	987	KRT86_ENST00000544024.1_Silent_p.I401I|KRT86_ENST00000423955.2_Silent_p.I401I	p.I401I	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1255	+			401			Coil 2.|Rod.		P78387	Silent	SNP	ENST00000423955.2	37	c.1203C>T	CCDS41785.1																																																																																				0.627	KRT86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404911.1	NM_002284		40	60	0	0	0	1	0	40	60				
IGDCC3	9543	broad.mit.edu	37	15	65621731	65621731	+	Silent	SNP	G	G	A			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:65621731G>A	ENST00000327987.4	-	13	2453	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	734					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACTCACTGTGGGTCTGGGGT	0.642																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(2200-2202)ccC>ccT		immunoglobulin superfamily, DCC subclass, member 3							70.0	83.0	79.0					15																	65621731		2194	4268	6462	SO:0001819	synonymous_variant	9543							g.chr15:65621731G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2202C>T	15.37:g.65621731G>A							p.P734P	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			13	2453	-			734					O95215	Silent	SNP	ENST00000327987.4	37	c.2202C>T	CCDS10205.1																																																																																				0.642	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		6	112	0	0	0	1	0	6	112				
DLG2	1740	broad.mit.edu	37	11	83691655	83691655	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr11:83691655C>T	ENST00000532653.1	-	7	937	c.635G>A	c.(634-636)gGg>gAg	p.G212E	DLG2_ENST00000531015.1_Missense_Mutation_p.G179E|DLG2_ENST00000543673.1_Missense_Mutation_p.G317E|DLG2_ENST00000398309.2_Missense_Mutation_p.G212E|DLG2_ENST00000330014.6_Missense_Mutation_p.G151E|DLG2_ENST00000524982.1_Missense_Mutation_p.G212E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Missense_Mutation_p.G161E|DLG2_ENST00000398301.2_Missense_Mutation_p.G251E|DLG2_ENST00000376104.2_Missense_Mutation_p.G317E|DLG2_ENST00000280241.8_Missense_Mutation_p.G251E|DLG2_ENST00000537455.1_5'UTR			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	184	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGTTGGTTCCCCACACCTCC	0.383																																						ENST00000398309.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(634-636)gGg>gAg		discs, large homolog 2 (Drosophila)							154.0	141.0	145.0					11																	83691655		1876	4097	5973	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:83691655C>T	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.635G>A	11.37:g.83691655C>T	ENSP00000435849:p.Gly212Glu					DLG2_ENST00000280241.8_Missense_Mutation_p.G251E|DLG2_ENST00000543673.1_Missense_Mutation_p.G317E|DLG2_ENST00000376104.2_Missense_Mutation_p.G317E|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Missense_Mutation_p.G151E|DLG2_ENST00000418306.2_Missense_Mutation_p.G161E|DLG2_ENST00000532653.1_Missense_Mutation_p.G212E|DLG2_ENST00000524982.1_Missense_Mutation_p.G212E|DLG2_ENST00000398301.2_Missense_Mutation_p.G251E|DLG2_ENST00000531015.1_Missense_Mutation_p.G179E	p.G212E	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN			7	1105	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	212			PDZ 2.		B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.635G>A		.	.	.	.	.	.	.	.	.	.	C	31	5.075505	0.94000	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.71	5.71	0.89125	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000001	T	0.55768	0.1941	L	0.47190	1.495	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.997;1.0;1.0;1.0;0.989;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;0.958;0.968;0.999;1.0;0.937;1.0	T	0.46456	-0.9190	9	.	.	.	.	19.8516	0.96743	0.0:1.0:0.0:0.0	.	179;212;212;151;251;317;212;161	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	E	212;317;161;317;251;151;212;212;317;179;251;129	ENSP00000381355:G212E;ENSP00000365272:G317E;ENSP00000402275:G161E;ENSP00000441994:G317E;ENSP00000280241:G251E;ENSP00000381353:G151E;ENSP00000432894:G212E;ENSP00000435849:G212E;ENSP00000433848:G179E;ENSP00000381346:G251E;ENSP00000381344:G129E	.	G	-	2	0	DLG2	83369303	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.487000	0.81328	2.685000	0.91497	0.585000	0.79938	GGG		0.383	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		42	61	0	0	0	1	0	42	61				
CGNL1	84952	broad.mit.edu	37	15	57731273	57731273	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr15:57731273A>C	ENST00000281282.5	+	2	1154	c.1076A>C	c.(1075-1077)aAa>aCa	p.K359T		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	359	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		TTAATTGAAAAATTTGATCAA	0.433																																						ENST00000281282.5																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60						c.(1075-1077)aAa>aCa		cingulin-like 1							44.0	47.0	46.0					15																	57731273		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57731273A>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1076A>C	15.37:g.57731273A>C	ENSP00000281282:p.Lys359Thr						p.K359T	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	2	1154	+			359			Head.		Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1076A>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	A	19.12	3.766126	0.69878	.	.	ENSG00000128849	ENST00000281282	T	0.57907	0.37	5.79	4.68	0.58851	.	0.113355	0.39475	N	0.001359	T	0.69637	0.3133	M	0.71036	2.16	0.44485	D	0.997422	D	0.89917	1.0	D	0.87578	0.998	T	0.71974	-0.4430	10	0.87932	D	0	-32.122	11.4457	0.50123	0.9303:0.0:0.0697:0.0	.	359	Q0VF96	CGNL1_HUMAN	T	359	ENSP00000281282:K359T	ENSP00000281282:K359T	K	+	2	0	CGNL1	55518565	1.000000	0.71417	0.227000	0.23927	0.959000	0.62525	5.988000	0.70579	1.028000	0.39785	0.533000	0.62120	AAA		0.433	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		22	34	0	0	0	1	0	22	34				
GRM7	2917	broad.mit.edu	37	3	7340480	7340480	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr3:7340480C>T	ENST00000357716.4	+	3	1120	c.846C>T	c.(844-846)gcC>gcT	p.A282A	GRM7_ENST00000402647.2_Silent_p.A282A|GRM7_ENST00000403881.1_Silent_p.A282A|GRM7_ENST00000389336.4_Silent_p.A282A|GRM7_ENST00000486284.1_Silent_p.A282A	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	282					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ACTCCAGGGCCGTCGTGATTT	0.448																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(844-846)gcC>gcT		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						72.0	73.0	73.0					3																	7340480		2203	4299	6502	SO:0001819	synonymous_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7340480C>T	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.846C>T	3.37:g.7340480C>T						GRM7_ENST00000357716.4_Silent_p.A282A|GRM7_ENST00000402647.2_Silent_p.A282A|GRM7_ENST00000389336.4_Silent_p.A282A|GRM7_ENST00000403881.1_Silent_p.A282A	p.A282A	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			3	1120	+			282					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.846C>T	CCDS43042.1																																																																																				0.448	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		22	27	0	0	0	1	0	22	27				
KIAA0753	9851	broad.mit.edu	37	17	6513363	6513363	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr17:6513363C>T	ENST00000361413.3	-	9	2021	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	555						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ATCCATGGTGCCTTGCGGTCT	0.483																																						ENST00000361413.3																			0				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24						c.(1663-1665)Gca>Aca		KIAA0753							172.0	173.0	172.0					17																	6513363		1932	4125	6057	SO:0001583	missense	9851					centrosome		g.chr17:6513363C>T		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.1663G>A	17.37:g.6513363C>T	ENSP00000355250:p.Ala555Thr					KIAA0753_ENST00000589033.1_Missense_Mutation_p.A11T|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A256T|KIAA0753_ENST00000572370.1_Missense_Mutation_p.A256T	p.A555T	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	9	2021	-			555					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.1663G>A	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368625	0.42003	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.07327	3.2;3.2	5.14	3.09	0.35607	.	0.258040	0.39687	N	0.001298	T	0.12050	0.0293	M	0.61703	1.905	0.09310	N	1	P	0.48162	0.906	P	0.49192	0.602	T	0.09818	-1.0657	10	0.23891	T	0.37	-9.2309	6.5376	0.22363	0.0:0.7177:0.1853:0.0971	.	555	Q2KHM9	K0753_HUMAN	T	555;256;11	ENSP00000355250:A555T;ENSP00000444634:A256T	ENSP00000355250:A555T	A	-	1	0	KIAA0753	6454087	0.940000	0.31905	0.973000	0.42090	0.445000	0.32107	1.663000	0.37429	1.284000	0.44531	0.650000	0.86243	GCA		0.483	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		11	108	0	0	0	1	0	11	108				
FTMT	94033	broad.mit.edu	37	5	121187964	121187964	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr5:121187964C>T	ENST00000321339.1	+	1	315	c.306C>T	c.(304-306)tcC>tcT	p.S102S		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	102	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		ATTACTTCTCCCGGGATGACG	0.577																																						ENST00000321339.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(304-306)tcC>tcT		ferritin mitochondrial							84.0	66.0	72.0					5																	121187964		2203	4300	6503	SO:0001819	synonymous_variant	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187964C>T	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.306C>T	5.37:g.121187964C>T							p.S102S	NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	1	315	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	102			Ferritin-like diiron.			Silent	SNP	ENST00000321339.1	37	c.306C>T	CCDS4128.1																																																																																				0.577	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478		4	47	0	0	0	1	0	4	47				
STAT1	6772	broad.mit.edu	37	2	191851586	191851586	+	Silent	SNP	C	C	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:191851586C>T	ENST00000361099.3	-	14	1602	c.1215G>A	c.(1213-1215)cgG>cgA	p.R405R	STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.R407R|STAT1_ENST00000409465.1_Silent_p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	405					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTACCAGGTGCCGAAATTCAG	0.458																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1213-1215)cgG>cgA		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						239.0	248.0	245.0					2																	191851586		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191851586C>T		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1215G>A	2.37:g.191851586C>T						STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.R405R|STAT1_ENST00000392322.3_Silent_p.R405R|STAT1_ENST00000392323.2_Silent_p.R407R	p.R405R	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		14	1602	-			405					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1215G>A	CCDS2309.1																																																																																				0.458	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		4	214	0	0	0	1	0	4	214				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		5	7						5	7	---	---	---	---
GORAB	92344	broad.mit.edu	37	1	170501120	170501121	+	5'Flank	DEL	GT	GT	-			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr1:170501120_170501121delGT	ENST00000367763.3	+	0	0				RP11-576I22.2_ENST00000456083.1_RNA|GORAB_ENST00000367762.1_5'Flank|RP11-576I22.2_ENST00000421020.1_RNA	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting							cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAGAGAGAGAGTAGAGGTAAGC	0.515																																						ENST00000421020.1																			0																																																	SO:0001631	upstream_gene_variant	0							g.chr1:170501120_170501121delGT	AK021814	CCDS1289.1, CCDS53428.1	1q24.2	2009-02-13	2009-02-13	2009-02-13	ENSG00000120370	ENSG00000120370			25676	protein-coding gene	gene with protein product	"""gerodermia osteodysplastica"""	607983	"""SCY1-like 1 binding protein 1"""	SCYL1BP1		12783284, 15781263, 18997784	Standard	NM_152281		Approved	FLJ11752, NTKL-BP1, GO	uc001gha.2	Q5T7V8	OTTHUMG00000035228		1.37:g.170501120_170501121delGT	Exception_encountered					RP11-576I22.2_ENST00000456083.1_RNA								0	20_21	-								Q49A22|Q6P1P9|Q9HAE6|Q9Y350	RNA	DEL	ENST00000367763.3	37		CCDS1289.1																																																																																				0.515	GORAB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085226.1	NM_152281		2	4						2	4	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65738863	65738863	+	lincRNA	DEL	G	G	-	rs373784983|rs377731020		TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr2:65738863delG	ENST00000377977.3	+	0	862																											TTTTTTTTTTGTCCAGGAGGC	0.303																																						ENST00000377977.3																			0																																																			0							g.chr2:65738863delG																													2.37:g.65738863delG														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.303	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			3	6						3	6	---	---	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					ENST00000308860.6																			2	Unknown(2)	p.?(2)	prostate(2)	endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA							p.L419_splice	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1301_1311	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		419			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922	In_Frame_Del	2	4						2	4	---	---	---	---
FMR1NB	158521	broad.mit.edu	37	X	147084823	147084824	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-A8CY-01A-11D-A364-08	TCGA-HC-A8CY-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86ff7f1d-b776-4a67-9927-4071226f30f4	2cacf700-84ab-4917-8c2e-0f38205063dd	g.chrX:147084823_147084824insT	ENST00000370467.3	+	2	454_455	c.380_381insT	c.(379-384)aattttfs	p.NF127fs		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral component of membrane (GO:0016021)|nucleolus (GO:0005730)		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTTC	0.371																																						ENST00000370467.3																			1	Insertion - Frameshift(1)	p.F130fs*17(1)	lung(1)	breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25						c.(379-381)attfs		fragile X mental retardation 1 neighbor																																				SO:0001589	frameshift_variant	158521					integral to membrane		g.chrX:147084823_147084824insT		CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.386dupT	X.37:g.147084829_147084829dupT	ENSP00000359498:p.Asn127fs						p.I127fs	NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN			2	454_455	+	Acute lymphoblastic leukemia(192;6.56e-05)		127			P-type.		D3DWT3	Frame_Shift_Ins	INS	ENST00000370467.3	37	c.380_381insT	CCDS14683.1																																																																																				0.371	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058667.1	NM_152578		8	53						8	53	---	---	---	---
