#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
PADI1	29943	broad.mit.edu	37	1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	rs142259163		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	ENST00000375471.4																			1	Substitution - Missense(1)	p.R56C(1)	prostate(1)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28						c.(166-168)Cgc>Tgc		peptidyl arginine deiminase, type I	L-Citrulline(DB00155)		CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	130.0	120.0	123.0		166	1.9	0.0	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	PADI1	NM_013358.2	180	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	56/664	17548858	2,13004	2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17548858C>T	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.166C>T	1.37:g.17548858C>T	ENSP00000364620:p.Arg56Cys						p.R56C	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	2	258	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	56					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.166C>T	CCDS178.1	.	.	.	.	.	.	.	.	.	.	c	3.633	-0.075107	0.07184	2.27E-4	1.16E-4	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	1.94	0.25998	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	0.179400	0.36665	U	0.002463	T	0.05547	0.0146	N	0.19112	0.55	0.09310	N	0.999999	P	0.52316	0.952	B	0.43783	0.431	T	0.35425	-0.9789	10	0.36615	T	0.2	-4.1982	7.0036	0.24823	0.1981:0.6104:0.1915:0.0	.	56	Q9ULC6	PADI1_HUMAN	C	56	ENSP00000364620:R56C	ENSP00000364620:R56C	R	+	1	0	PADI1	17421445	0.008000	0.16893	0.001000	0.08648	0.059000	0.15707	0.129000	0.15830	0.242000	0.21303	-0.828000	0.03084	CGC		0.552	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		7	62	0	0	0	1	0	7	62				
KIF16B	55614	broad.mit.edu	37	20	16387071	16387071	+	Missense_Mutation	SNP	A	A	T	rs375823359		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:16387071A>T	ENST00000354981.2	-	16	1800	c.1643T>A	c.(1642-1644)aTg>aAg	p.M548K	KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	548					ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGCGAAACATATTGGTTCT	0.468																																						ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1642-1644)aTg>aAg		kinesin family member 16B		A	LYS/MET,LYS/MET,LYS/MET	0,4406		0,0,2203	210.0	190.0	197.0		1643,1643,1643	5.9	1.0	20		197	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	95,95,95	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	548/1267,548/1393,548/1318	16387071	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16387071A>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1643T>A	20.37:g.16387071A>T	ENSP00000347076:p.Met548Lys					KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K	p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			16	1800	-			548					A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1643T>A	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.611253	0.87258	0.0	1.16E-4	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.71222	-0.55;-0.55;-0.55	5.95	5.95	0.96441	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	T	0.79417	0.4442	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.997;0.995	D;D;D;P	0.67103	0.949;0.949;0.949;0.889	T	0.81243	-0.1021	10	0.87932	D	0	.	15.3895	0.74731	1.0:0.0:0.0:0.0	.	548;548;548;548	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	K	548	ENSP00000347076:M548K;ENSP00000347995:M548K;ENSP00000384164:M548K	ENSP00000347076:M548K	M	-	2	0	KIF16B	16335071	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.466000	0.90387	2.272000	0.75746	0.460000	0.39030	ATG		0.468	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		61	83	0	0	0	1	0	61	83				
SLC5A1	6523	broad.mit.edu	37	22	32487699	32487699	+	Silent	SNP	C	C	T	rs200206252		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr22:32487699C>T	ENST00000266088.4	+	11	1480	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC5A1_ENST00000543737.1_Silent_p.Y283Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	410					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	TGGACATCTACGCCAAGGTCC	0.537																																						ENST00000266088.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						c.(1228-1230)taC>taT		solute carrier family 5 (sodium/glucose cotransporter), member 1							130.0	109.0	116.0					22																	32487699		2203	4300	6503	SO:0001819	synonymous_variant	6523				carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	g.chr22:32487699C>T		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.1230C>T	22.37:g.32487699C>T						SLC5A1_ENST00000543737.1_Silent_p.Y283Y	p.Y410Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN			11	1480	+			410					B2R7E2|B7Z4Q9|B7ZA69	Silent	SNP	ENST00000266088.4	37	c.1230C>T	CCDS13902.1																																																																																				0.537	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343		5	119	0	0	0	1	0	5	119				
IGBP1	3476	broad.mit.edu	37	X	69370131	69370131	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:69370131A>G	ENST00000342206.6	+	5	1329	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	IGBP1-AS2_ENST00000403371.2_RNA|IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	277	Interaction with MID1.				B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATCGGAAATATGGAGCATTA	0.458																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)	ENST00000342206.6																			0				kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						c.(829-831)tAt>tGt		immunoglobulin (CD79A) binding protein 1							96.0	76.0	83.0					X																	69370131		2203	4300	6503	SO:0001583	missense	3476				B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity	g.chrX:69370131A>G	Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.830A>G	X.37:g.69370131A>G	ENSP00000363661:p.Tyr277Cys					IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C	p.Y277C			P78318	IGBP1_HUMAN			5	1329	+			277					Q8TAB2	Missense_Mutation	SNP	ENST00000342206.6	37	c.830A>G	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251652	0.22880	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	T;T	0.42513	0.97;0.97	4.59	-0.979	0.10276	.	0.825267	0.11718	N	0.536228	T	0.34135	0.0887	M	0.64997	1.995	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.29610	-1.0006	10	0.41790	T	0.15	.	4.8071	0.13325	0.4474:0.0:0.0901:0.4624	.	277	P78318	IGBP1_HUMAN	C	277	ENSP00000363661:Y277C;ENSP00000348784:Y277C	ENSP00000363661:Y277C	Y	+	2	0	IGBP1	69286856	0.009000	0.17119	0.001000	0.08648	0.988000	0.76386	1.440000	0.35024	-0.270000	0.09285	0.438000	0.28831	TAT		0.458	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1			7	20	0	0	0	1	0	7	20				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	131	0	0	0	1	0	4	131				
RANBP2	5903	broad.mit.edu	37	2	109380084	109380084	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:109380084C>A	ENST00000283195.6	+	20	3215	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1030					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCCAACTCCTTTTAAATTT	0.423																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(3088-3090)cCt>cAt		RAN binding protein 2							112.0	112.0	112.0					2																	109380084		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109380084C>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.3089C>A	2.37:g.109380084C>A	ENSP00000283195:p.Pro1030His						p.P1030H	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	3215	+			1030					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.3089C>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.208198	0.58343	.	.	ENSG00000153201	ENST00000283195	T	0.26957	1.7	5.69	4.82	0.62117	.	.	.	.	.	T	0.26231	0.0640	L	0.29908	0.895	0.36934	D	0.892022	P	0.51653	0.947	P	0.46796	0.527	T	0.23368	-1.0190	9	0.72032	D	0.01	-8.6063	14.6494	0.68786	0.0:0.9303:0.0:0.0697	.	1030	P49792	RBP2_HUMAN	H	1030	ENSP00000283195:P1030H	ENSP00000283195:P1030H	P	+	2	0	RANBP2	108746516	1.000000	0.71417	0.937000	0.37676	0.823000	0.46562	4.782000	0.62396	1.407000	0.46875	0.563000	0.77884	CCT		0.423	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		4	175	1	0	0.00909568	1	0.00909568	4	175				
MLPH	79083	broad.mit.edu	37	2	238419718	238419718	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:238419718C>T	ENST00000264605.3	+	4	713	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTCATCCGGTCCCTCCACGGG	0.532																																						ENST00000264605.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(418-420)tCc>tTc		melanophilin							153.0	155.0	154.0					2																	238419718		2203	4300	6503	SO:0001583	missense	79083						metal ion binding	g.chr2:238419718C>T	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.419C>T	2.37:g.238419718C>T	ENSP00000264605:p.Ser140Phe					MLPH_ENST00000445024.2_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F	p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	4	713	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	140					B3KSS2|B4DKW7|G5E9G5|Q9HA71	Missense_Mutation	SNP	ENST00000264605.3	37	c.419C>T	CCDS2518.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.050680	0.75960	.	.	ENSG00000115648	ENST00000410032;ENST00000264605;ENST00000445024;ENST00000338530;ENST00000409373	T;T;T;T;T	0.32272	1.46;1.73;1.72;1.59;1.5	5.13	4.24	0.50183	.	0.066253	0.64402	D	0.000007	T	0.62986	0.2473	M	0.91249	3.19	0.53005	D	0.999968	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0;0.959	T	0.72004	-0.4421	9	.	.	.	-17.1958	13.9501	0.64111	0.1527:0.8472:0.0:0.0	.	140;140;140;140;140;140	B4DKW7;A8KA64;B8ZZ97;Q9BV36-2;Q9BV36;G5E9G5	.;.;.;.;MELPH_HUMAN;.	F	140	ENSP00000386338:S140F;ENSP00000264605:S140F;ENSP00000414849:S140F;ENSP00000341845:S140F;ENSP00000386780:S140F	.	S	+	2	0	MLPH	238084457	0.999000	0.42202	0.994000	0.49952	0.683000	0.39861	4.318000	0.59190	1.113000	0.41760	0.563000	0.77884	TCC		0.532	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	NM_024101		31	208	0	0	0	1	0	31	208				
HS6ST3	266722	broad.mit.edu	37	13	97485206	97485206	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:97485206C>T	ENST00000376705.2	+	2	1194	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	390					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAGATCAACGAGGGTGCCC	0.498																																						ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1168-1170)aaC>aaT		heparan sulfate 6-O-sulfotransferase 3							91.0	85.0	87.0					13																	97485206		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:97485206C>T	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1170C>T	13.37:g.97485206C>T							p.N390N	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1194	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		390					Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.1170C>T	CCDS9481.1																																																																																				0.498	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		7	100	0	0	0	1	0	7	100				
CIC	23152	broad.mit.edu	37	19	42791808	42791808	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42791808A>G	ENST00000575354.2	+	5	734	c.694A>G	c.(694-696)Aag>Gag	p.K232E	CIC_ENST00000572681.2_Missense_Mutation_p.K1141E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCGTCAGCAAGATCCTGGG	0.622			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3421-3423)Aag>Gag		capicua transcriptional repressor							80.0	74.0	76.0					19																	42791808		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791808A>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.694A>G	19.37:g.42791808A>G	ENSP00000458663:p.Lys232Glu					CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E	p.K1141E			Q96RK0	CIC_HUMAN			6	3489	+		Prostate(69;0.00682)	232			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3421A>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	A	16.36	3.101129	0.56183	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	D	0.84701	0.5530	M	0.93854	3.465	0.58432	D	0.999994	D	0.69078	0.997	D	0.80764	0.994	D	0.88061	0.2794	8	0.87932	D	0	-14.3513	11.626	0.51145	1.0:0.0:0.0:0.0	.	232	Q96RK0	CIC_HUMAN	E	232	.	ENSP00000160740:K232E	K	+	1	0	CIC	47483648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.768000	0.91737	1.853000	0.53794	0.454000	0.30748	AAG		0.622	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			36	8	0	0	0	1	0	36	8				
PTGR1	22949	broad.mit.edu	37	9	114337092	114337092	+	Missense_Mutation	SNP	C	C	T	rs146199919	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr9:114337092C>T	ENST00000407693.2	-	8	944	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S|PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	228					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCATCTGGCCGATAACAGTG	0.403																																					Ovarian(200;132 2151 7551 19220 46064)	ENST00000407693.2																			0				endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						c.(682-684)Ggc>Agc		prostaglandin reductase 1		C	,SER/GLY,SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	130.0	121.0	124.0		,682,682,682	-9.5	0.0	9	dbSNP_134	124	8,8592	6.4+/-24.3	0,8,4292	yes	intron,missense,missense,missense	PTGR1,ZNF483	NM_001007169.2,NM_001146108.1,NM_001146109.1,NM_012212.3	,56,56,56	0,9,6494	TT,TC,CC		0.093,0.0227,0.0692	,benign,benign,benign	,228/330,228/302,228/330	114337092	9,12997	2203	4300	6503	SO:0001583	missense	22949				leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr9:114337092C>T	D49387	CCDS6779.1, CCDS55331.1	9q32	2008-06-04	2008-06-02	2008-06-02	ENSG00000106853	ENSG00000106853	1.3.1.74, 1.3.1.48		18429	protein-coding gene	gene with protein product	"""zinc binding alcohol dehydrogenase domain containing 3"""	601274	"""leukotriene B4 12-hydroxydehydrogenase"""	LTB4DH		8576264, 17449869	Standard	NM_001146109		Approved	ZADH3	uc004bfh.2	Q14914	OTTHUMG00000020493	ENST00000407693.2:c.682G>A	9.37:g.114337092C>T	ENSP00000385763:p.Gly228Ser					PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|RP11-16L21.7_ENST00000450154.1_RNA|PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S	p.G228S	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN			8	944	-			228					A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6	Missense_Mutation	SNP	ENST00000407693.2	37	c.682G>A	CCDS6779.1	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.482746	0.01027	2.27E-4	9.3E-4	ENSG00000106853	ENST00000538962;ENST00000309195;ENST00000407693;ENST00000374324;ENST00000238248	T;T;T;T	0.03860	3.78;3.78;3.78;3.78	4.75	-9.49	0.00587	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	1.121620	0.06438	N	0.725462	T	0.01029	0.0034	N	0.01109	-1.01	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.0	B;B;B;B	0.08055	0.002;0.003;0.003;0.001	T	0.37407	-0.9707	10	0.07325	T	0.83	-12.8136	0.6394	0.00808	0.3822:0.1994:0.1562:0.2622	.	228;228;105;228	F5GY50;B4DPK3;Q5JVP3;Q14914	.;.;.;PTGR1_HUMAN	S	228;228;228;105;105	ENSP00000440281:G228S;ENSP00000311572:G228S;ENSP00000385763:G228S;ENSP00000238248:G105S	ENSP00000238248:G105S	G	-	1	0	PTGR1	113376913	0.000000	0.05858	0.000000	0.03702	0.412000	0.31113	-1.495000	0.02294	-3.924000	0.00091	-2.457000	0.00206	GGC		0.403	PTGR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053647.2			9	77	0	0	0	1	0	9	77				
CXCR4	7852	broad.mit.edu	37	2	136873410	136873410	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:136873410G>A	ENST00000241393.3	-	2	192	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	CXCR4_ENST00000409817.1_Missense_Mutation_p.R34C|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	30					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	TTTTCTTCACGGAAACAGGGT	0.433																																						ENST00000409817.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(100-102)Cgt>Tgt		chemokine (C-X-C motif) receptor 4	Framycetin(DB00452)						99.0	103.0	102.0					2																	136873410		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873410G>A	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.88C>T	2.37:g.136873410G>A	ENSP00000241393:p.Arg30Cys					CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C	p.R34C	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	1	403	-			30					B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.100C>T	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.786491	0.31593	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.36520	1.25;1.25	5.88	2.68	0.31781	CXC chemokine receptor, type 4, N-terminal (1);	0.720245	0.13568	N	0.378288	T	0.41811	0.1175	N	0.19112	0.55	0.20307	N	0.999916	D;D	0.71674	0.987;0.998	P;P	0.60682	0.878;0.76	T	0.41928	-0.9481	10	0.87932	D	0	.	14.4045	0.67073	0.0:0.0:0.4231:0.5769	.	30;34	P61073;P61073-2	CXCR4_HUMAN;.	C	34;30	ENSP00000386884:R34C;ENSP00000241393:R30C	ENSP00000241393:R30C	R	-	1	0	CXCR4	136589880	0.000000	0.05858	1.000000	0.80357	0.665000	0.39181	-0.979000	0.03774	0.653000	0.30826	0.655000	0.94253	CGT		0.433	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			56	40	0	0	0	1	0	56	40				
KIF6	221458	broad.mit.edu	37	6	39507890	39507890	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:39507890G>A	ENST00000287152.7	-	13	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1534-1536)Cgc>Tgc		kinesin family member 6							192.0	195.0	194.0					6																	39507890		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507890G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1534C>T	6.37:g.39507890G>A	ENSP00000287152:p.Arg512Cys					KIF6_ENST00000373216.3_Missense_Mutation_p.R512C|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron	p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			13	1628	-			512		R -> H (in dbSNP:rs2273063).			Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1534C>T	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	G	12.91	2.078949	0.36662	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215	T;T;T;T	0.72167	-0.61;-0.62;-0.45;-0.63	6.04	2.62	0.31277	.	.	.	.	.	T	0.31949	0.0813	N	0.19112	0.55	0.09310	N	1	P;P;P	0.50443	0.61;0.935;0.476	B;B;B	0.40782	0.235;0.34;0.118	T	0.19679	-1.0298	9	0.56958	D	0.05	.	2.259	0.04062	0.1226:0.1801:0.495:0.2024	.	512;512;512	E7EUN7;Q6ZMV9-3;Q6ZMV9	.;.;KIF6_HUMAN	C	512;512;351;512	ENSP00000287152:R512C;ENSP00000362312:R512C;ENSP00000362309:R351C;ENSP00000362311:R512C	ENSP00000287152:R512C	R	-	1	0	KIF6	39615868	0.038000	0.19896	0.015000	0.15790	0.054000	0.15201	1.255000	0.32909	1.505000	0.48720	0.563000	0.77884	CGC		0.498	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		72	108	0	0	0	1	0	72	108				
HERC1	8925	broad.mit.edu	37	15	64067698	64067698	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:64067698A>G	ENST00000443617.2	-	2	212	c.125T>C	c.(124-126)gTt>gCt	p.V42A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	42					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTATTGCTAACCAGTTTAGA	0.433																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(124-126)gTt>gCt		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							104.0	100.0	101.0					15																	64067698		1910	4126	6036	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64067698A>G	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.125T>C	15.37:g.64067698A>G	ENSP00000390158:p.Val42Ala						p.V42A	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			2	212	-			42					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.125T>C	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	A	16.75	3.208238	0.58343	.	.	ENSG00000103657	ENST00000443617;ENST00000425434	T	0.00543	6.68	5.65	5.65	0.86999	.	0.515778	0.18052	U	0.153257	T	0.00637	0.0021	L	0.34521	1.04	0.39911	D	0.974023	B;B;B	0.16396	0.017;0.01;0.01	B;B;B	0.18561	0.022;0.01;0.015	T	0.72246	-0.4349	10	0.66056	D	0.02	.	15.8771	0.79173	1.0:0.0:0.0:0.0	.	42;42;42	B4DKS2;C9JUT5;Q15751	.;.;HERC1_HUMAN	A	42	ENSP00000390158:V42A	ENSP00000389613:V42A	V	-	2	0	HERC1	61854751	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.271000	0.95698	2.147000	0.66899	0.459000	0.35465	GTT		0.433	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		4	109	0	0	0	1	0	4	109				
PML	5371	broad.mit.edu	37	15	74328199	74328199	+	Intron	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:74328199T>C	ENST00000268058.3	+	7	1806				PML_ENST00000565898.1_Intron|PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000563500.1_3'UTR|PML_ENST00000564428.1_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268059.6_Silent_p.P799P	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCAAGTGCCTCTGGAAGCCT	0.627			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(2395-2397)ccT>ccC		promyelocytic leukemia							74.0	91.0	85.0					15																	74328199		2196	4297	6493	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74328199T>C	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+1328T>C	15.37:g.74328199T>C						PML_ENST00000565898.1_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000435786.2_3'UTR|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000268058.3_Intron|PML_ENST00000569965.1_Intron	p.P799P	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN			8	2493	+			89					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.2397T>C	CCDS10255.1																																																																																				0.627	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		6	171	0	0	0	1	0	6	171				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			33	55	0	0	0	1	0	33	55				
RSRC1	51319	broad.mit.edu	37	3	157920909	157920909	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:157920909G>C	ENST00000295930.3	+	4	531	c.369G>C	c.(367-369)agG>agC	p.R123S	RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	123	Arg/Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GCAGTGAAAGGTCCAGTCACA	0.433																																						ENST00000295930.3																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(367-369)agG>agC		arginine/serine-rich coiled-coil 1							109.0	109.0	109.0					3																	157920909		2203	4300	6503	SO:0001583	missense	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157920909G>C	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	ENST00000295930.3:c.369G>C	3.37:g.157920909G>C	ENSP00000295930:p.Arg123Ser					RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron	p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	531	+			123			Arg/Ser-rich.		A8K2R9|Q96QK2|Q9NZE5	Missense_Mutation	SNP	ENST00000295930.3	37	c.369G>C	CCDS3181.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.51|16.51	3.142872|3.142872	0.57044|0.57044	.|.	.|.	ENSG00000174891|ENSG00000174891	ENST00000480820;ENST00000494002;ENST00000295930;ENST00000471994;ENST00000475278;ENST00000476899|ENST00000482822	.|.	.|.	.|.	5.04|5.04	-1.7|-1.7	0.08159|0.08159	.|.	0.056402|.	0.64402|.	D|.	0.000001|.	T|T	0.54631|0.54631	0.1870|0.1870	L|L	0.47716|0.47716	1.5|1.5	0.41937|0.41937	D|D	0.990591|0.990591	D|.	0.61080|.	0.989|.	D|.	0.72625|.	0.978|.	T|T	0.51888|0.51888	-0.8648|-0.8648	9|5	0.41790|.	T|.	0.15|.	.|.	10.9786|10.9786	0.47480|0.47480	0.662:0.0:0.338:0.0|0.662:0.0:0.338:0.0	.|.	123|.	Q96IZ7|.	RSRC1_HUMAN|.	S|L	123|17	.|.	ENSP00000295930:R123S|.	R|V	+|+	3|1	2|0	RSRC1|RSRC1	159403603|159403603	0.298000|0.298000	0.24417|0.24417	0.981000|0.981000	0.43875|0.43875	0.943000|0.943000	0.58893|0.58893	-0.506000|-0.506000	0.06359|0.06359	-0.163000|-0.163000	0.10946|0.10946	0.591000|0.591000	0.81541|0.81541	AGG|GTC		0.433	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	NM_016625		8	18	0	0	0	1	0	8	18				
CYP46A1	10858	broad.mit.edu	37	14	100166434	100166434	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr14:100166434C>T	ENST00000261835.3	+	5	543	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCTTCAGCCGGAGGTGAGT	0.627																																						ENST00000261835.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25						c.(439-441)Cgg>Tgg		cytochrome P450, family 46, subfamily A, polypeptide 1							59.0	52.0	55.0					14																	100166434		2203	4300	6503	SO:0001583	missense	10858				bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	g.chr14:100166434C>T	AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.439C>T	14.37:g.100166434C>T	ENSP00000261835:p.Arg147Trp					CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	p.R147W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN			5	543	+		Melanoma(154;0.0866)|all_epithelial(191;0.179)	147					B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	c.439C>T	CCDS9954.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.44|19.44	3.828902|3.828902	0.71258|0.71258	.|.	.|.	ENSG00000036530|ENSG00000036530	ENST00000380228|ENST00000261835;ENST00000423126	.|T;T	.|0.69435	.|-0.4;-0.36	4.84|4.84	2.93|2.93	0.34026|0.34026	.|.	.|0.051458	.|0.85682	.|D	.|0.000000	T|T	0.76884|0.76884	0.4050|0.4050	L|L	0.61036|0.61036	1.89|1.89	0.43793|0.43793	D|D	0.996332|0.996332	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.76517|0.76517	-0.2930|-0.2930	5|10	.|0.62326	.|D	.|0.03	.|.	10.625|10.625	0.45502|0.45502	0.3209:0.6791:0.0:0.0|0.3209:0.6791:0.0:0.0	.|.	.|147;118	.|Q9Y6A2;Q59ER2	.|CP46A_HUMAN;.	L|W	133|147;50	.|ENSP00000261835:R147W;ENSP00000405779:R50W	.|ENSP00000261835:R147W	P|R	+|+	2|1	0|2	CYP46A1|CYP46A1	99236187|99236187	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.987000|0.987000	0.75469|0.75469	1.673000|1.673000	0.37534|0.37534	0.661000|0.661000	0.30985|0.30985	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.627	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			5	13	0	0	0	1	0	5	13				
ATXN2	6311	broad.mit.edu	37	12	111895132	111895132	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537																																						ENST00000377617.3																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(3400-3402)gcG>gcA		ataxin 2							227.0	186.0	200.0					12																	111895132		2203	4300	6503	SO:0001819	synonymous_variant	6311				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding	g.chr12:111895132C>T	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3402G>A	12.37:g.111895132C>T						ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000550104.1_3'UTR	p.A1134A	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN			22	3563	-			1134					A6NLD4|Q6ZQZ7|Q99493	Silent	SNP	ENST00000377617.3	37	c.3402G>A	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695631	0.48202	.	.	ENSG00000204842	ENST00000550889	.	.	.	5.96	-7.82	0.01205	.	.	.	.	.	T	0.52256	0.1723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62220	-0.6900	5	0.87932	D	0	-8.4051	4.1823	0.10381	0.1525:0.1542:0.1251:0.5681	.	.	.	.	H	19	.	ENSP00000449162:R19H	R	-	2	0	ATXN2	110379515	0.216000	0.23585	0.631000	0.29282	0.988000	0.76386	-0.582000	0.05814	-1.443000	0.01953	-0.142000	0.14014	CGC		0.537	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973		8	45	0	0	0	1	0	8	45				
GPR125	166647	broad.mit.edu	37	4	22390464	22390464	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr4:22390464T>C	ENST00000334304.5	-	19	3099	c.2830A>G	c.(2830-2832)Aga>Gga	p.R944G	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	944					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGGGTGTCTTTTCAACTGA	0.458																																						ENST00000334304.5																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2830-2832)Aga>Gga		G protein-coupled receptor 125							72.0	76.0	74.0					4																	22390464		2203	4300	6503	SO:0001583	missense	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390464T>C	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2830A>G	4.37:g.22390464T>C	ENSP00000334952:p.Arg944Gly					GPR125_ENST00000282943.5_5'UTR	p.R944G	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			19	3099	-		Breast(46;0.198)	944					Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	ENST00000334304.5	37	c.2830A>G	CCDS33964.1	.	.	.	.	.	.	.	.	.	.	T	14.66	2.601453	0.46423	.	.	ENSG00000152990	ENST00000334304	T	0.46063	0.88	5.84	4.81	0.61882	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	L	0.49640	1.575	0.80722	D	1	B;D	0.63880	0.085;0.993	B;P	0.60609	0.054;0.877	T	0.42292	-0.9460	10	0.20046	T	0.44	-4.7767	12.4248	0.55540	0.0:0.0:0.3688:0.6312	.	801;944	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	G	944	ENSP00000334952:R944G	ENSP00000334952:R944G	R	-	1	2	GPR125	21999562	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.161000	0.50747	1.072000	0.40860	0.528000	0.53228	AGA		0.458	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			66	82	0	0	0	1	0	66	82				
ARHGAP31	57514	broad.mit.edu	37	3	119133649	119133649	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:119133649A>G	ENST00000264245.4	+	12	3405	c.2873A>G	c.(2872-2874)aAa>aGa	p.K958R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	958					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTAGATAGCAAACCCACGGTT	0.567																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(2872-2874)aAa>aGa		Rho GTPase activating protein 31							137.0	134.0	135.0					3																	119133649		1895	4129	6024	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119133649A>G		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.2873A>G	3.37:g.119133649A>G	ENSP00000264245:p.Lys958Arg						p.K958R	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			12	3405	+			958					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.2873A>G	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	A	10.92	1.486582	0.26686	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.08807	3.05	4.74	4.74	0.60224	.	0.106927	0.41001	D	0.000970	T	0.09862	0.0242	L	0.32530	0.975	0.32409	N	0.550878	P	0.46987	0.888	P	0.44561	0.453	T	0.03981	-1.0987	10	0.87932	D	0	.	13.5597	0.61782	1.0:0.0:0.0:0.0	.	958	Q2M1Z3	RHG31_HUMAN	R	958	ENSP00000264245:K958R	ENSP00000264245:K958R	K	+	2	0	ARHGAP31	120616339	0.999000	0.42202	0.209000	0.23619	0.027000	0.11550	3.532000	0.53553	1.979000	0.57680	0.379000	0.24179	AAA		0.567	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			88	120	0	0	0	1	0	88	120				
MAP2K6	5608	broad.mit.edu	37	17	67501928	67501928	+	Silent	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:67501928G>A	ENST00000590474.1	+	2	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8	D domain. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cell cycle arrest (GO:0007050)|cellular response to sorbitol (GO:0072709)|DNA damage induced protein phosphorylation (GO:0006975)|innate immune response (GO:0045087)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to ischemia (GO:0002931)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433																																						ENST00000590474.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20						c.(22-24)aaG>aaA		mitogen-activated protein kinase kinase 6							138.0	138.0	138.0					17																	67501928		2203	4300	6503	SO:0001819	synonymous_variant	5608				activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:67501928G>A	U39064	CCDS11686.1	17q	2011-06-09						"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6846	protein-coding gene	gene with protein product	"""protein kinase, mitogen-activated, kinase 6 (MAP kinase kinase 6)"""	601254		PRKMK6		8621675	Standard	XM_005257515		Approved	MEK6, MKK6, SAPKK3, MAPKK6	uc002jij.3	P52564		ENST00000590474.1:c.24G>A	17.37:g.67501928G>A						MAP2K6_ENST00000589647.1_5'UTR	p.K8K	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN			2	311	+	Breast(10;6.05e-10)		8						Silent	SNP	ENST00000590474.1	37	c.24G>A	CCDS11686.1																																																																																				0.433	MAP2K6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450689.1	NM_002758		10	146	0	0	0	1	0	10	146				
EIF3B	8662	broad.mit.edu	37	7	2403386	2403386	+	Silent	SNP	A	A	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:2403386A>G	ENST00000360876.4	+	5	1046	c.990A>G	c.(988-990)gaA>gaG	p.E330E	EIF3B_ENST00000397011.2_Silent_p.E330E	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCTCAATTGAAGAAAGAGCGG	0.448																																						ENST00000360876.4																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24						c.(988-990)gaA>gaG		eukaryotic translation initiation factor 3, subunit B							50.0	48.0	49.0					7																	2403386		2203	4300	6503	SO:0001819	synonymous_variant	8662				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	g.chr7:2403386A>G	U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.990A>G	7.37:g.2403386A>G						EIF3B_ENST00000397011.2_Silent_p.E330E	p.E330E	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)	5	1046	+		Ovarian(82;0.0253)	330			Sufficient for interaction with EIF3E.			Silent	SNP	ENST00000360876.4	37	c.990A>G	CCDS5332.1																																																																																				0.448	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207006.1			39	31	0	0	0	1	0	39	31				
OR4S2	219431	broad.mit.edu	37	11	55419211	55419211	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr11:55419211C>G	ENST00000312422.2	+	1	832	c.832C>G	c.(832-834)Ccc>Gcc	p.P278A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408																																						ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(832-834)Ccc>Gcc		olfactory receptor, family 4, subfamily S, member 2							157.0	144.0	149.0					11																	55419211		2181	4037	6218	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55419211C>G	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.832C>G	11.37:g.55419211C>G	ENSP00000310337:p.Pro278Ala						p.P278A	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	832	+		all_epithelial(135;0.0748)	278					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.832C>G	CCDS31505.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429277	0.83776	.	.	ENSG00000174982	ENST00000312422	T	0.00340	8.04	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.01523	0.0049	H	0.95982	3.75	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.40346	-0.9568	10	0.87932	D	0	.	17.6379	0.88128	0.0:1.0:0.0:0.0	.	278	Q8NH73	OR4S2_HUMAN	A	278	ENSP00000310337:P278A	ENSP00000310337:P278A	P	+	1	0	OR4S2	55175787	0.998000	0.40836	0.992000	0.48379	0.994000	0.84299	4.865000	0.62998	2.508000	0.84585	0.542000	0.68232	CCC		0.408	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		5	334	0	0	0	1	0	5	334				
VPS36	51028	broad.mit.edu	37	13	52991270	52991270	+	Silent	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:52991270A>T	ENST00000378060.4	-	12	939	c.912T>A	c.(910-912)cgT>cgA	p.R304R		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	304					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TGTCAAACACACGGAGCCTGA	0.468																																						ENST00000378060.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17						c.(910-912)cgT>cgA		vacuolar protein sorting 36 homolog (S. cerevisiae)							63.0	57.0	59.0					13																	52991270		2203	4300	6503	SO:0001819	synonymous_variant	51028				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding	g.chr13:52991270A>T	AF151903	CCDS9434.1, CCDS73577.1	13q14.13	2008-02-05	2007-01-12	2005-08-02	ENSG00000136100	ENSG00000136100			20312	protein-coding gene	gene with protein product		610903	"""chromosome 13 open reading frame 9"", ""vacuolar protein sorting 36 homolog (yeast)"""	C13orf9		11278625, 15755741	Standard	NM_016075		Approved	CGI-145, Eap45	uc001vgs.3	Q86VN1	OTTHUMG00000016964	ENST00000378060.4:c.912T>A	13.37:g.52991270A>T							p.R304R	NM_016075.2	NP_057159.2	Q86VN1	VPS36_HUMAN		GBM - Glioblastoma multiforme(99;3.14e-08)	12	939	-		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	304					A8K125|Q3ZCV7|Q5H9S1|Q5VXB6|Q9H8Z5|Q9Y3E3	Silent	SNP	ENST00000378060.4	37	c.912T>A	CCDS9434.1																																																																																				0.468	VPS36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045059.3			29	37	0	0	0	1	0	29	37				
MEP1A	4224	broad.mit.edu	37	6	46766355	46766355	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46766355A>T	ENST00000230588.4	+	4	167	c.158A>T	c.(157-159)gAc>gTc	p.D53V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCAGGCTTGGACCTCTTTCAA	0.398																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(157-159)gAc>gTc		meprin A, alpha (PABA peptide hydrolase)							67.0	68.0	68.0					6																	46766355		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766355A>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.158A>T	6.37:g.46766355A>T	ENSP00000230588:p.Asp53Val						p.D53V	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		4	167	+			53					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.158A>T	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	A	13.24	2.179050	0.38511	.	.	ENSG00000112818	ENST00000230588	T	0.26373	1.74	5.17	3.93	0.45458	.	0.299139	0.41194	D	0.000939	T	0.14098	0.0341	M	0.72894	2.215	0.53688	D	0.999975	B;B	0.22276	0.067;0.008	B;B	0.14578	0.011;0.008	T	0.05784	-1.0864	10	0.44086	T	0.13	-21.7451	8.6304	0.33915	0.8293:0.0:0.0:0.1707	.	81;53	B7ZL91;Q16819	.;MEP1A_HUMAN	V	53	ENSP00000230588:D53V	ENSP00000230588:D53V	D	+	2	0	MEP1A	46874314	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.190000	0.50973	2.073000	0.62155	0.455000	0.32223	GAC		0.398	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		34	53	0	0	0	1	0	34	53				
EVPL	2125	broad.mit.edu	37	17	74003439	74003439	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:74003439C>A	ENST00000301607.3	-	22	6100	c.5847G>T	c.(5845-5847)agG>agT	p.R1949S	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1949	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGCCTGTCCTCTTGGGGT	0.662																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5845-5847)agG>agT		envoplakin							45.0	44.0	44.0					17																	74003439		2203	4299	6502	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003439C>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5847G>T	17.37:g.74003439C>A	ENSP00000301607:p.Arg1949Ser					EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	p.R1949S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	6100	-			1949			Globular 2.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.5847G>T	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	11.24	1.580655	0.28180	.	.	ENSG00000167880	ENST00000301607	T	0.70869	-0.52	5.48	3.45	0.39498	.	0.128937	0.52532	D	0.000073	T	0.52273	0.1724	N	0.25647	0.755	0.29550	N	0.85145	B;B	0.31655	0.097;0.334	B;B	0.31946	0.051;0.138	T	0.50294	-0.8845	10	0.45353	T	0.12	-43.2898	4.2313	0.10604	0.0:0.5427:0.1752:0.282	.	1971;1949	B7ZLH8;Q92817	.;EVPL_HUMAN	S	1949	ENSP00000301607:R1949S	ENSP00000301607:R1949S	R	-	3	2	EVPL	71515034	0.990000	0.36364	0.997000	0.53966	0.967000	0.64934	0.200000	0.17257	0.652000	0.30806	-0.258000	0.10820	AGG		0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		39	49	1	0	2.75727e-19	1	2.82292e-19	39	49				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		5	68	0	0	0	1	0	5	68				
GDPGP1	390637	broad.mit.edu	37	15	90784550	90784550	+	Missense_Mutation	SNP	G	G	A	rs143773020	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:90784550G>A	ENST00000558017.1	+	4	830	c.410G>A	c.(409-411)cGt>cAt	p.R137H	GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	137					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										GTCCTCTTCCGTTTGCACCGG	0.597													G|||	6	0.00119808	0.0045	0.0	5008	,	,		19691	0.0		0.0	False		,,,				2504	0.0					ENST00000558017.1																			0											c.(409-411)cGt>cAt		GDP-D-glucose phosphorylase 1		G	HIS/ARG	13,4385	20.2+/-43.8	0,13,2186	99.0	95.0	97.0		410	4.0	0.9	15	dbSNP_134	97	0,8596		0,0,4298	yes	missense	C15orf58	NM_001013657.2	29	0,13,6484	AA,AG,GG		0.0,0.2956,0.1	benign	137/386	90784550	13,12981	2199	4298	6497	SO:0001583	missense	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784550G>A		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.410G>A	15.37:g.90784550G>A	ENSP00000452793:p.Arg137His					GDPGP1_ENST00000329600.6_Missense_Mutation_p.R137H	p.R137H	NM_001013657.2	NP_001013679.2	Q6ZNW5	VTC2_HUMAN			4	830	+			137						Missense_Mutation	SNP	ENST00000558017.1	37	c.410G>A	CCDS32327.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	13.44	2.236960	0.39498	0.002956	0.0	ENSG00000183208	ENST00000329600	T	0.24350	1.86	5.85	3.97	0.46021	.	0.137043	0.51477	D	0.000094	T	0.19967	0.0480	M	0.69823	2.125	0.36937	D	0.892209	B	0.10296	0.003	B	0.04013	0.001	T	0.15549	-1.0433	10	0.44086	T	0.13	-8.054	9.0592	0.36425	0.2275:0.0:0.7725:0.0	.	137	Q6ZNW5	VTC2_HUMAN	H	137	ENSP00000368405:R137H	ENSP00000368405:R137H	R	+	2	0	C15orf58	88585554	0.258000	0.24033	0.936000	0.37596	0.705000	0.40729	0.554000	0.23407	1.482000	0.48325	0.655000	0.94253	CGT		0.597	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657		8	147	0	0	0	1	0	8	147				
CYP39A1	51302	broad.mit.edu	37	6	46555791	46555791	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46555791C>T	ENST00000275016.2	-	9	1344	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	CYP39A1_ENST00000489657.1_5'Flank	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	381					bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	24-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033782)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)|steroid 7-alpha-hydroxylase activity (GO:0008387)		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AATTCAGGCTCAGGAAAATAC	0.299																																						ENST00000275016.2																		EIF3K/CYP39A1(2)	0				NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						c.(1141-1143)Gag>Aag		cytochrome P450, family 39, subfamily A, polypeptide 1							56.0	59.0	58.0					6																	46555791		2203	4297	6500	SO:0001583	missense	51302				bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr6:46555791C>T	AF237982	CCDS4916.1, CCDS75465.1	6p21.1-p11.2	2008-02-05	2003-01-14		ENSG00000146233	ENSG00000146233		"""Cytochrome P450s"""	17449	protein-coding gene	gene with protein product		605994	"""cytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1"""			10748047	Standard	NM_016593		Approved		uc003oyf.1	Q9NYL5	OTTHUMG00000014785	ENST00000275016.2:c.1141G>A	6.37:g.46555791C>T	ENSP00000275016:p.Glu381Lys						p.E381K	NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN			9	1344	-			381					Q5VTT0|Q96FW5	Missense_Mutation	SNP	ENST00000275016.2	37	c.1141G>A	CCDS4916.1	.	.	.	.	.	.	.	.	.	.	C	34	5.322765	0.95708	.	.	ENSG00000146233	ENST00000275016	D	0.85556	-2.0	6.06	6.06	0.98353	.	0.106858	0.64402	D	0.000007	D	0.90431	0.7004	M	0.64997	1.995	0.54753	D	0.999982	D;D	0.63046	0.992;0.992	D;D	0.65573	0.936;0.936	D	0.89753	0.3941	10	0.66056	D	0.02	-27.9498	20.6208	0.99490	0.0:1.0:0.0:0.0	.	361;381	B7Z786;Q9NYL5	.;CP39A_HUMAN	K	381	ENSP00000275016:E381K	ENSP00000275016:E381K	E	-	1	0	CYP39A1	46663750	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.117000	0.71577	2.882000	0.98803	0.655000	0.94253	GAG		0.299	CYP39A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040787.1			30	44	0	0	0	1	0	30	44				
USP26	83844	broad.mit.edu	37	X	132160495	132160495	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:132160495C>G	ENST00000511190.1	-	6	2223	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	585	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCATGATACACTGATGTTTCC	0.398																																					NSCLC(104;342 1621 36940 47097 52632)	ENST00000511190.1																			0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60						c.(1753-1755)aGt>aCt		ubiquitin specific peptidase 26							80.0	74.0	76.0					X																	132160495		2203	4299	6502	SO:0001583	missense	83844				protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chrX:132160495C>G	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1754G>C	X.37:g.132160495C>G	ENSP00000423390:p.Ser585Thr					USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN			6	2223	-	Acute lymphoblastic leukemia(192;0.000127)		585					B9WRT6|Q5H9H4	Missense_Mutation	SNP	ENST00000511190.1	37	c.1754G>C	CCDS14635.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896593	0.33442	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.74526	-0.85;-0.85;-0.85	4.14	-4.0	0.04057	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.969624	0.08429	N	0.947221	T	0.76681	0.4021	L	0.54323	1.7	0.09310	N	1	D	0.56746	0.977	D	0.63113	0.911	T	0.67217	-0.5726	10	0.37606	T	0.19	-0.3941	6.3591	0.21419	0.1387:0.2327:0.0:0.6286	.	585	Q9BXU7	UBP26_HUMAN	T	585	ENSP00000359869:S585T;ENSP00000423390:S585T;ENSP00000384360:S585T	ENSP00000359869:S585T	S	-	2	0	USP26	131988161	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.943000	0.03917	-1.235000	0.02545	0.529000	0.55759	AGT		0.398	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359441.1	NM_031907		52	5	0	0	0	1	0	52	5				
CCL11	6356	broad.mit.edu	37	17	32614693	32614693	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:32614693C>T	ENST00000305869.3	+	3	419	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	93					actin filament organization (GO:0007015)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|chronic inflammatory response (GO:0002544)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|ERK1 and ERK2 cascade (GO:0070371)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mammary duct terminal end bud growth (GO:0060763)|mast cell chemotaxis (GO:0002551)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of Rac GTPase activity (GO:0032855)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|response to interleukin-4 (GO:0070670)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAAAAATCTCCAACTCCAAAG	0.438																																						ENST00000305869.3																			0				breast(1)|lung(1)|prostate(1)	3						c.(277-279)cCa>cTa		chemokine (C-C motif) ligand 11							67.0	58.0	61.0					17																	32614693		2203	4300	6503	SO:0001583	missense	6356				cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity	g.chr17:32614693C>T	AB063614	CCDS11279.1	17q21.1-q21.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000172156	ENSG00000172156		"""Chemokine ligands"", ""Endogenous ligands"""	10610	protein-coding gene	gene with protein product	"""eotaxin-1"""	601156	"""small inducible cytokine subfamily A (Cys-Cys), member 11 (eotaxin)"""	SCYA11		9169149	Standard	NM_002986		Approved	eotaxin, MGC22554	uc002hia.1	P51671	OTTHUMG00000132884	ENST00000305869.3:c.278C>T	17.37:g.32614693C>T	ENSP00000302234:p.Pro93Leu						p.P93L	NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.155)	3	419	+	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)	93					P50877|Q92490|Q92491	Missense_Mutation	SNP	ENST00000305869.3	37	c.278C>T	CCDS11279.1	.	.	.	.	.	.	.	.	.	.	C	9.567	1.120045	0.20877	.	.	ENSG00000172156	ENST00000305869	T	0.03413	3.94	3.74	-4.18	0.03846	Chemokine interleukin-8-like domain (1);	2.100000	0.02471	N	0.087486	T	0.02767	0.0083	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43360	-0.9396	9	0.56958	D	0.05	.	1.683	0.02835	0.2397:0.3356:0.2928:0.132	.	93	P51671	CCL11_HUMAN	L	93	ENSP00000302234:P93L	ENSP00000302234:P93L	P	+	2	0	CCL11	29638806	0.000000	0.05858	0.056000	0.19401	0.020000	0.10135	-1.370000	0.02575	-0.970000	0.03569	-0.254000	0.11334	CCA		0.438	CCL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256377.2	NM_002986		12	27	0	0	0	1	0	12	27				
SLC4A7	9497	broad.mit.edu	37	3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATGAGTTTGCGCACAAACACT	0.328																																						ENST00000295736.5																			1	Substitution - Missense(1)	p.R1119C(1)	large_intestine(1)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(3355-3357)Cgc>Tgc		solute carrier family 4, sodium bicarbonate cotransporter, member 7							115.0	124.0	121.0					3																	27427493		2203	4300	6503	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27427493G>A	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3355C>T	3.37:g.27427493G>A	ENSP00000295736:p.Arg1119Cys					SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C	p.R1119C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			23	3425	-			1119					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.3355C>T	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.852845	0.91355	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	D;D;D;D;D;D;D;D;D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61;-1.61	5.68	5.68	0.88126	.	0.099081	0.64402	D	0.000001	D	0.91720	0.7382	M	0.77406	2.37	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.996;0.983;0.996;0.993;0.996;0.999;0.992;0.996;0.983	D	0.91838	0.5481	10	0.87932	D	0	.	20.1467	0.98079	0.0:0.0:1.0:0.0	.	1115;1000;1111;1115;1128;669;995;1119;1000	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	C	670;1119;995;1128;1115;1000;1111;1000;1115;1004;669;1015	ENSP00000411031:R670C;ENSP00000295736:R1119C;ENSP00000416368:R995C;ENSP00000390394:R1128C;ENSP00000414797:R1115C;ENSP00000394252:R1000C;ENSP00000406605:R1111C;ENSP00000407382:R1000C;ENSP00000406804:R1115C;ENSP00000395336:R1004C;ENSP00000373429:R669C;ENSP00000388703:R1015C	ENSP00000295736:R1119C	R	-	1	0	SLC4A7	27402497	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	7.915000	0.87484	2.838000	0.97847	0.655000	0.94253	CGC		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		4	170	0	0	0	1	0	4	170				
MYH3	4621	broad.mit.edu	37	17	10546191	10546191	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:10546191G>T	ENST00000583535.1	-	15	1620	c.1533C>A	c.(1531-1533)ttC>ttA	p.F511L	MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	511	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGAAGTCAATGAACGTCCACT	0.502																																						ENST00000583535.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(1531-1533)ttC>ttA		myosin, heavy chain 3, skeletal muscle, embryonic							238.0	206.0	217.0					17																	10546191		2203	4300	6503	SO:0001583	missense	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10546191G>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.1533C>A	17.37:g.10546191G>T	ENSP00000464317:p.Phe511Leu					MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN			15	1620	-			511			Myosin head-like.		Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	c.1533C>A	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537487	0.85917	.	.	ENSG00000109063	ENST00000226209	D	0.87571	-2.27	4.6	4.6	0.57074	Myosin head, motor domain (3);	.	.	.	.	D	0.93697	0.7986	M	0.90814	3.15	0.46113	D	0.998879	P	0.51240	0.943	P	0.57283	0.817	D	0.95015	0.8155	9	0.87932	D	0	.	17.9673	0.89103	0.0:0.0:1.0:0.0	.	511	P11055	MYH3_HUMAN	L	511	ENSP00000226209:F511L	ENSP00000226209:F511L	F	-	3	2	MYH3	10486916	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	2.689000	0.46993	2.553000	0.86117	0.650000	0.86243	TTC		0.502	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		87	132	1	0	3.26951e-42	1	3.429e-42	87	132				
ITGA4	3676	broad.mit.edu	37	2	182347308	182347308	+	Missense_Mutation	SNP	T	T	C			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:182347308T>C	ENST00000397033.2	+	9	1401	c.971T>C	c.(970-972)cTc>cCc	p.L324P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	324					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TCAGATCTGCTCGTGGGAGCA	0.512																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(970-972)cTc>cCc		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						186.0	186.0	186.0					2																	182347308		2008	4182	6190	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182347308T>C		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.971T>C	2.37:g.182347308T>C	ENSP00000380227:p.Leu324Pro						p.L324P	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		9	1401	+			324					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.971T>C	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355811	0.82243	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.74737	-0.87;-0.87	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.93507	3.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	D	0.92356	0.5893	10	0.87932	D	0	.	16.1549	0.81657	0.0:0.0:0.0:1.0	.	324;324	E7EP60;P13612	.;ITA4_HUMAN	P	324	ENSP00000380227:L324P;ENSP00000233573:L324P	ENSP00000233573:L324P	L	+	2	0	ITGA4	182055553	1.000000	0.71417	0.203000	0.23512	0.933000	0.57130	7.841000	0.86834	2.207000	0.71202	0.528000	0.53228	CTC		0.512	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			11	206	0	0	0	1	0	11	206				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	37	0	0	0	1	0	5	37				
GRIK5	2901	broad.mit.edu	37	19	42507582	42507582	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42507582C>T	ENST00000262895.3	-	18	2415	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S|GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	806					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				ATAAAAATGCCACCAATGTTC	0.577																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(2416-2418)Ggc>Agc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						108.0	89.0	95.0					19																	42507582		2203	4300	6503	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42507582C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.2416G>A	19.37:g.42507582C>T	ENSP00000262895:p.Gly806Ser					GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S	p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			18	2415	-		Prostate(69;0.059)	806					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.2416G>A	CCDS12595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.095655|4.095655	0.76870|0.76870	.|.	.|.	ENSG00000105737|ENSG00000105737	ENST00000262895;ENST00000301218|ENST00000454993	T;T|.	0.62364|.	0.03;0.03|.	4.07|4.07	4.07|4.07	0.47477|0.47477	Ionotropic glutamate receptor (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	D|.	0.85283|.	0.5661|.	M|M	0.93328|0.93328	3.405|3.405	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.34147|.	0.438|.	P|.	0.47941|.	0.562|.	D|.	0.89734|.	0.3928|.	10|.	0.87932|.	D|.	0|.	.|.	15.1804|15.1804	0.72952|0.72952	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	806|.	Q16478|.	GRIK5_HUMAN|.	S|X	806|182	ENSP00000262895:G806S;ENSP00000301218:G806S|.	ENSP00000262895:G806S|.	G|W	-|-	1|2	0|0	GRIK5|GRIK5	47199422|47199422	1.000000|1.000000	0.71417|0.71417	0.924000|0.924000	0.36721|0.36721	0.533000|0.533000	0.34776|0.34776	7.409000|7.409000	0.80053|0.80053	2.093000|2.093000	0.63338|0.63338	0.561000|0.561000	0.74099|0.74099	GGC|TGG		0.577	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			28	4	0	0	0	1	0	28	4				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	73	0	0	0	1	0	4	73				
NEFM	4741	broad.mit.edu	37	8	24774809	24774809	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr8:24774809G>A	ENST00000221166.5	+	3	2223	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T			P07197	NFM_HUMAN	neurofilament, medium polypeptide	481	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGAGGAATTGGCCGTTTCCAT	0.458																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(1441-1443)Gcc>Acc		neurofilament, medium polypeptide							53.0	54.0	54.0					8																	24774809		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24774809G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.1441G>A	8.37:g.24774809G>A	ENSP00000221166:p.Ala481Thr					NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000518131.1_Missense_Mutation_p.A481T	p.A481T			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2223	+		Prostate(55;0.157)	481			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.1441G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	9.604	1.129519	0.21041	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94232	-1.73;-1.75;-1.75;-3.38	4.8	3.91	0.45181	.	0.142736	0.30979	N	0.008498	D	0.92828	0.7719	M	0.82923	2.615	0.49389	D	0.999787	B;B	0.27498	0.009;0.18	B;B	0.23150	0.004;0.044	D	0.91555	0.5260	10	0.72032	D	0.01	.	13.6583	0.62352	0.0764:0.0:0.9236:0.0	.	481;481	E7EMV2;P07197	.;NFM_HUMAN	T	481;481;481;105	ENSP00000221166:A481T;ENSP00000427872:A481T;ENSP00000410137:A481T;ENSP00000412295:A105T	ENSP00000221166:A481T	A	+	1	0	NEFM	24830714	1.000000	0.71417	0.572000	0.28498	0.103000	0.19146	4.717000	0.61923	1.123000	0.41961	0.467000	0.42956	GCC		0.458	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		23	18	0	0	0	1	0	23	18				
FLNC	2318	broad.mit.edu	37	7	128493774	128493774	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:128493774C>T	ENST00000325888.8	+	39	6628	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2123					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAGGAAGCCCCTTCACTGT	0.642																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(6367-6369)Ccc>Tcc		filamin C, gamma							48.0	59.0	55.0					7																	128493774		2093	4203	6296	SO:0001583	missense	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128493774C>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.6367C>T	7.37:g.128493774C>T	ENSP00000327145:p.Pro2123Ser					FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S|RP11-309L24.2_ENST00000469965.1_RNA	p.P2123S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			39	6628	+			2123					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	ENST00000325888.8	37	c.6367C>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667691	0.88348	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	D;D	0.96334	-3.98;-3.98	5.24	5.24	0.73138	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.99061	0.9678	H	0.98833	4.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99107	1.0845	10	0.87932	D	0	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	2090;2123	Q14315-2;Q14315	.;FLNC_HUMAN	S	2123;2090	ENSP00000327145:P2123S;ENSP00000344002:P2090S	ENSP00000327145:P2123S	P	+	1	0	FLNC	128281010	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.792000	0.85828	2.436000	0.82500	0.561000	0.74099	CCC		0.642	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			27	26	0	0	0	1	0	27	26				
FUBP1	8880	broad.mit.edu	37	1	78425906	78425907	+	Frame_Shift_Del	DEL	TG	TG	-	rs145571406		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:78425906_78425907delTG	ENST00000370768.2	-	16	1619_1620	c.1538_1539delCA	c.(1537-1539)gcafs	p.A513fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs|FUBP1_ENST00000370767.1_Frame_Shift_Del_p.A513fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	513	Pro-rich.				positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTGTGGATATGCATTTCCCCA	0.431			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1537-1539)gfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78425906_78425907delTG	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1538_1539delCA	1.37:g.78425906_78425907delTG	ENSP00000359804:p.Ala513fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs	p.A513fs			Q96AE4	FUBP1_HUMAN			16	1625_1626	-			513			Pro-rich.		Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1538_1539delCA	CCDS683.1																																																																																				0.431	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		23	8						23	8	---	---	---	---
KIAA0907	22889	broad.mit.edu	37	1	155886422	155886423	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:155886422_155886423delCT	ENST00000368321.3	-	12	1569_1570	c.1546_1547delAG	c.(1546-1548)aggfs	p.R516fs	KIAA0907_ENST00000368320.3_Frame_Shift_Del_p.R516fs	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	516							RNA binding (GO:0003723)	p.R516fs*21(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TTACCTGTCCCTCTCTCTCTCT	0.396																																						ENST00000368320.3																			1	Deletion - Frameshift(1)	p.R516fs*21(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1546-1548)gfs		KIAA0907																																				SO:0001589	frameshift_variant	22889							g.chr1:155886422_155886423delCT	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1546_1547delAG	1.37:g.155886432_155886433delCT	ENSP00000357304:p.Arg516fs					KIAA0907_ENST00000368321.3_Frame_Shift_Del_p.R516fs	p.R516fs			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		12	1571_1572	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		516					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Frame_Shift_Del	DEL	ENST00000368321.3	37	c.1546_1547delAG	CCDS30885.1																																																																																				0.396	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		7	181						7	181	---	---	---	---
TAF1B	9014	broad.mit.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A	rs528368939		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																						ENST00000263663.5																			1	Insertion - Frameshift(1)	p.K63fs*1(1)	upper_aerodigestive_tract(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(184-189)ctaaaafs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa																																				SO:0001589	frameshift_variant	9014				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:9989570_9989571insA	L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs					TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	p.LK62fs	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN			3	374_375	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		62					B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	ENST00000263663.5	37	c.186_187insA	CCDS33143.1																																																																																				0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323426.2	NM_005680		20	44						20	44	---	---	---	---
DLX2	1746	broad.mit.edu	37	2	172967128	172967129	+	In_Frame_Ins	INS	-	-	GCT	rs201510837|rs376692475	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:172967128_172967129insGCT	ENST00000234198.4	-	1	499_500	c.138_139insAGC	c.(136-141)agcctc>agcAGCctc	p.46_47insS	DLX2_ENST00000466293.2_In_Frame_Ins_p.46_47insS|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	46	Poly-Ser.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCTTGTGGAGgctgctgctgc	0.738														113	0.0225639	0.0008	0.0865	5008	,	,		12199	0.0387		0.0109	False		,,,				2504	0.002				GBM(188;775 2993 11256 23072)	ENST00000234198.4																			0				endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11						c.(136-141)agtcca>agAGCtcca		distal-less homeobox 2																																				SO:0001652	inframe_insertion	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172967128_172967129insGCT	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.136_138dupAGC	2.37:g.172967135_172967137dupGCT	ENSP00000234198:p.Ser46_Ser46dup					DLX2_ENST00000466293.2_In_Frame_Ins_p.46_46S>RA	p.46_46S>RA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		1	499_500	-			46			Poly-Ser.		B4DMK4|B7ZA14	In_Frame_Ins	INS	ENST00000234198.4	37	c.138_139insAGC	CCDS2248.1																																																																																				0.738	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			3	4						3	4	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	73						7	73	---	---	---	---
