#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
CIT	11113	broad.mit.edu	37	12	120214536	120214536	+	Silent	SNP	A	A	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120214536A>C	ENST00000261833.7	-	14	1828	c.1776T>G	c.(1774-1776)tcT>tcG	p.S592S	CIT_ENST00000392521.2_Silent_p.S592S|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	592					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CAGCAAGCCGAGACTCTCTCA	0.468																																						ENST00000392521.2																			0				breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86						c.(1774-1776)tcT>tcG		citron (rho-interacting, serine/threonine kinase 21)							118.0	114.0	115.0					12																	120214536		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120214536A>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1776T>G	12.37:g.120214536A>C						CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.S592S	p.S592S	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	14	1831	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	592					Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.1776T>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	A	10.66	1.412459	0.25465	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.48	3.13	0.36017	.	.	.	.	.	T	0.55737	0.1939	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46911	-0.9157	4	.	.	.	.	7.1679	0.25702	0.6154:0.0:0.3846:0.0	.	.	.	.	R	220	.	.	L	-	2	0	CIT	118698919	0.983000	0.35010	1.000000	0.80357	0.948000	0.59901	0.106000	0.15354	0.395000	0.25257	0.459000	0.35465	CTC		0.468	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	73	0	0	0	1	0	7	73				
FAM13A	10144	broad.mit.edu	37	4	89668954	89668954	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:89668954T>C	ENST00000264344.5	-	18	2417	c.2210A>G	c.(2209-2211)cAg>cGg	p.Q737R	FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	737					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GTTGCTTCGCTGCCGCATCCT	0.393																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(2209-2211)cAg>cGg		family with sequence similarity 13, member A							100.0	114.0	109.0					4																	89668954		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89668954T>C	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2210A>G	4.37:g.89668954T>C	ENSP00000264344:p.Gln737Arg					FAM13A_ENST00000511976.1_Missense_Mutation_p.Q323R|FAM13A_ENST00000503556.1_Missense_Mutation_p.Q397R|FAM13A_ENST00000395002.2_Missense_Mutation_p.Q411R|FAM13A_ENST00000508369.1_Missense_Mutation_p.Q411R|FAM13A_ENST00000513837.1_Missense_Mutation_p.Q383R	p.Q737R	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			18	2417	-			737					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.2210A>G	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.801249	0.50315	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.47528	0.84;2.12;1.43;1.47;1.43;1.44	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.65069	0.2656	M	0.66939	2.045	0.80722	D	1	P;D;D;D;P;P	0.71674	0.89;0.996;0.997;0.998;0.865;0.89	P;D;D;D;P;P	0.80764	0.6;0.986;0.986;0.994;0.519;0.6	T	0.61686	-0.7012	10	0.24483	T	0.36	.	15.3531	0.74405	0.0:0.0:0.0:1.0	.	383;323;737;411;397;411	O94988-6;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;FA13A_HUMAN;.;.;.	R	411;737;397;323;411;383	ENSP00000378450:Q411R;ENSP00000264344:Q737R;ENSP00000427189:Q397R;ENSP00000421914:Q323R;ENSP00000421562:Q411R;ENSP00000423252:Q383R	ENSP00000264344:Q737R	Q	-	2	0	FAM13A	89887977	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.985000	0.63845	2.207000	0.71202	0.533000	0.62120	CAG		0.393	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			17	69	0	0	0	1	0	17	69				
PCLO	27445	broad.mit.edu	37	7	82545907	82545907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr7:82545907G>A	ENST00000333891.9	-	7	11732	c.11395C>T	c.(11395-11397)Cga>Tga	p.R3799*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.R3799*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R519*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAGGTATCGTAGCTTAGCA	0.448																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11395-11397)Cga>Tga		piccolo presynaptic cytomatrix protein							169.0	149.0	156.0					7																	82545907		1891	4126	6017	SO:0001587	stop_gained	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545907G>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11395C>T	7.37:g.82545907G>A	ENSP00000334319:p.Arg3799*					PCLO_ENST00000333891.8_Nonsense_Mutation_p.R3799*|PCLO_ENST00000437081.1_Nonsense_Mutation_p.R519*	p.R3799*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11732	-			3730			Gln-rich.			Nonsense_Mutation	SNP	ENST00000333891.9	37	c.11395C>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510077	0.85282	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	.	.	.	5.8	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.9865	0.64339	0.0:0.0:0.7408:0.2592	.	.	.	.	X	3799;3799;519	.	ENSP00000334319:R3799X	R	-	1	2	PCLO	82383843	0.975000	0.34042	0.998000	0.56505	0.979000	0.70002	1.283000	0.33237	2.758000	0.94735	0.563000	0.77884	CGA		0.448	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		11	14	0	0	0	1	0	11	14				
CES1	1066	broad.mit.edu	37	16	55866955	55866955	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:55866955C>A	ENST00000361503.4	-	1	143	c.13G>T	c.(13-15)Gcc>Tcc	p.A5S	CES1_ENST00000422046.2_Missense_Mutation_p.A5S|CES1_ENST00000360526.3_Missense_Mutation_p.A5S			P23141	EST1_HUMAN	carboxylesterase 1	5				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418). {ECO:0000305}.	epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	AGGATAAAGGCACGGAGCCAC	0.602																																					NSCLC(162;1801 2756 42904 52896)	ENST00000422046.2																			0											c.(13-15)Gcc>Tcc		carboxylesterase 1	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						74.0	62.0	66.0					16																	55866955		2151	4190	6341	SO:0001583	missense	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55866955C>A	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.13G>T	16.37:g.55866955C>A	ENSP00000355193:p.Ala5Ser					CES1_ENST00000361503.4_Missense_Mutation_p.A5S|CES1_ENST00000360526.3_Missense_Mutation_p.A5S	p.A5S			P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	1	294	-			5	RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418).				A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Missense_Mutation	SNP	ENST00000361503.4	37	c.13G>T	CCDS45488.1	.	.	.	.	.	.	.	.	.	.	.	9.046	0.990987	0.18966	.	.	ENSG00000198848	ENST00000360526;ENST00000361503;ENST00000422046	T;T;T	0.66815	-0.23;-0.23;-0.23	3.81	0.578	0.17391	Carboxylesterase, type B (1);	1.442020	0.04781	N	0.429853	T	0.59542	0.2201	L	0.52364	1.645	0.09310	N	1	B;B;B	0.20368	0.044;0.044;0.02	B;B;B	0.21360	0.034;0.034;0.021	T	0.41980	-0.9478	10	0.37606	T	0.19	.	5.877	0.18834	0.0:0.5127:0.3786:0.1088	.	5;5;5	E9PAU8;P23141;P23141-2	.;EST1_HUMAN;.	S	5	ENSP00000353720:A5S;ENSP00000355193:A5S;ENSP00000390492:A5S	ENSP00000353720:A5S	A	-	1	0	CES1	54424456	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.521000	0.06245	0.168000	0.19655	0.644000	0.83932	GCC		0.602	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		5	11	1	0	0.000602214	1	0.000619927	5	11				
ACVR1C	130399	broad.mit.edu	37	2	158395160	158395160	+	Silent	SNP	C	C	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:158395160C>A	ENST00000243349.8	-	8	1641	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363																																						ENST00000243349.7																			1	Substitution - coding silent(1)	p.S427S(1)	large_intestine(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1279-1281)tcG>tcT		activin A receptor, type IC							107.0	107.0	107.0					2																	158395160		2203	4300	6503	SO:0001819	synonymous_variant	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158395160C>A	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1281G>T	2.37:g.158395160C>A						ACVR1C_ENST00000409680.3_Silent_p.S377S|ACVR1C_ENST00000348328.5_Silent_p.S270S|ACVR1C_ENST00000335450.7_Silent_p.S347S	p.S427S	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			8	1641	-			427			Protein kinase.			Silent	SNP	ENST00000243349.8	37	c.1281G>T	CCDS2205.1																																																																																				0.363	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		10	65	1	0	6.40141e-05	1	7.00154e-05	10	65				
ZCCHC14	23174	broad.mit.edu	37	16	87451282	87451282	+	Silent	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:87451282C>T	ENST00000268616.4	-	8	973	c.756G>A	c.(754-756)ccG>ccA	p.P252P		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	252							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CGGAGCCGGCCGGGTGCTGCC	0.697																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(754-756)ccG>ccA		zinc finger, CCHC domain containing 14							36.0	43.0	41.0					16																	87451282		2198	4298	6496	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87451282C>T	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.756G>A	16.37:g.87451282C>T							p.P252P	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	8	973	-			252					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.756G>A	CCDS10961.1																																																																																				0.697	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	23	0	0	0	1	0	4	23				
CFAP70	118491	broad.mit.edu	37	10	75029417	75029417	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr10:75029417G>C	ENST00000310715.3	-	26	3312	c.3192C>G	c.(3190-3192)aaC>aaG	p.N1064K	TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|TTC18_ENST00000401621.2_Missense_Mutation_p.N1064K|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K|TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN		1064						extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGCATTGTAGTTGTTCAATG	0.463																																						ENST00000401621.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3190-3192)aaC>aaG		tetratricopeptide repeat domain 18							173.0	141.0	152.0					10																	75029417		2203	4300	6503	SO:0001583	missense	118491						binding	g.chr10:75029417G>C																												ENST00000310715.3:c.3192C>G	10.37:g.75029417G>C	ENSP00000310829:p.Asn1064Lys					TTC18_ENST00000394865.1_Missense_Mutation_p.N1034K|TTC18_ENST00000493787.1_Intron|DNAJC9-AS1_ENST00000440197.2_RNA|TTC18_ENST00000355577.3_Missense_Mutation_p.N533K|TTC18_ENST00000340329.3_Missense_Mutation_p.N304K|TTC18_ENST00000310715.3_Missense_Mutation_p.N1064K	p.N1064K			Q5T0N1	TTC18_HUMAN			26	3312	-	Prostate(51;0.0119)		1064					C9JIZ9|Q5T0M4|Q5T0M9|Q5T0N0|Q69YH9|Q8IYZ8|Q8N7D5|Q8NI30|Q8NI31	Missense_Mutation	SNP	ENST00000310715.3	37	c.3192C>G	CCDS7324.3	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661313	0.67700	.	.	ENSG00000156042	ENST00000310715;ENST00000401621;ENST00000355577;ENST00000340329;ENST00000433268;ENST00000394865	T;T;T;T;T	0.73363	1.22;1.22;-0.74;0.73;1.24	5.85	3.03	0.35002	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.344398	0.34362	N	0.004027	T	0.80909	0.4714	M	0.72894	2.215	0.49213	D	0.999764	D	0.89917	1.0	D	0.87578	0.998	T	0.76884	-0.2794	10	0.09843	T	0.71	-17.5675	9.6483	0.39881	0.2256:0.0:0.7744:0.0	.	1064	Q5T0N1	TTC18_HUMAN	K	1064;1064;1064;304;441;1034	ENSP00000310829:N1064K;ENSP00000384479:N1064K;ENSP00000343650:N304K;ENSP00000409527:N441K;ENSP00000378334:N1034K	ENSP00000310829:N1064K	N	-	3	2	TTC18	74699423	1.000000	0.71417	0.989000	0.46669	0.974000	0.67602	1.706000	0.37878	0.396000	0.25283	0.655000	0.94253	AAC		0.463	TTC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				5	37	0	0	0	1	0	5	37				
BAI1	575	broad.mit.edu	37	8	143565394	143565394	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:143565394G>A	ENST00000517894.1	+	12	3081	c.2187G>A	c.(2185-2187)gaG>gaA	p.E729E	BAI1_ENST00000323289.5_Silent_p.E729E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	729					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAAGTGGGAGGAGGCCCAGC	0.622																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(2185-2187)gaG>gaA		brain-specific angiogenesis inhibitor 1							131.0	132.0	131.0					8																	143565394		1895	4106	6001	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143565394G>A	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2187G>A	8.37:g.143565394G>A						BAI1_ENST00000323289.5_Silent_p.E729E	p.E729E			O14514	BAI1_HUMAN			12	3081	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		729						Silent	SNP	ENST00000517894.1	37	c.2187G>A																																																																																					0.622	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	95	0	0	0	1	0	5	95				
GOT2	2806	broad.mit.edu	37	16	58752108	58752108	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:58752108C>T	ENST00000245206.5	-	6	822	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	232					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	ACCTTCACCACTGTTGCTATT	0.498																																						ENST00000245206.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22						c.(694-696)Gtg>Atg		glutamic-oxaloacetic transaminase 2, mitochondrial	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						140.0	122.0	128.0					16																	58752108		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58752108C>T		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.694G>A	16.37:g.58752108C>T	ENSP00000245206:p.Val232Met					GOT2_ENST00000564400.1_5'UTR|GOT2_ENST00000434819.2_Missense_Mutation_p.V189M	p.V232M	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN			6	822	-			232					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.694G>A	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.949259	0.34377	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	D;D	0.91521	-2.86;-2.86	5.6	-0.239	0.13050	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.408346	0.27027	N	0.021293	D	0.87888	0.6291	M	0.82323	2.585	0.29289	N	0.869477	B;B	0.30211	0.273;0.163	B;B	0.31442	0.13;0.105	T	0.79808	-0.1647	9	.	.	.	-4.0492	5.2808	0.15674	0.285:0.3676:0.284:0.0634	.	189;232	E7ERW2;P00505	.;AATM_HUMAN	M	232;189	ENSP00000245206:V232M;ENSP00000394100:V189M	.	V	-	1	0	GOT2	57309609	0.001000	0.12720	0.419000	0.26584	0.630000	0.37929	-0.822000	0.04448	0.304000	0.22809	-0.314000	0.08810	GTG		0.498	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			9	55	0	0	0	1	0	9	55				
IL3RA	3563	broad.mit.edu	37	X	1499970	1499970	+	Silent	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:1499970C>T	ENST00000331035.4	+	11	1384	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	IL3RA_ENST00000381469.2_Silent_p.I267I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	345					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AAGACCCCATCGGTGACAGCT	0.567													c|||	2	0.000399361	0.0015	0.0	5008	,	,		16205	0.0		0.0	False		,,,				2504	0.0					ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(1033-1035)atC>atT		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)						400.0	395.0	396.0					X																	1499970		2203	4296	6499	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1499970C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.1035C>T	X.37:g.1499970C>T						IL3RA_ENST00000381469.2_Silent_p.I267I	p.I345I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			11	1384	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	345					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.1035C>T	CCDS14113.1																																																																																				0.567	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			89	159	0	0	0	1	0	89	159				
KLHL15	80311	broad.mit.edu	37	X	24007025	24007025	+	Silent	SNP	A	A	G			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:24007025A>G	ENST00000328046.8	-	4	1083	c.828T>C	c.(826-828)cgT>cgC	p.R276R		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	276					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTTTTGCAGAACGGATGCGGC	0.433																																						ENST00000328046.8																			0				autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						c.(826-828)cgT>cgC		kelch-like family member 15							105.0	98.0	101.0					X																	24007025		2203	4300	6503	SO:0001819	synonymous_variant	80311							g.chrX:24007025A>G	AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.828T>C	X.37:g.24007025A>G							p.R276R	NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN			4	1083	-			276					Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	ENST00000328046.8	37	c.828T>C	CCDS35217.1																																																																																				0.433	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056078.1	XM_040383		5	86	0	0	0	1	0	5	86				
LCE2D	353141	broad.mit.edu	37	1	152636849	152636849	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:152636849G>A	ENST00000368784.1	+	2	323	c.268G>A	c.(268-270)Gat>Aat	p.D90N		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	90	Cys-rich.				keratinization (GO:0031424)					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGAGCCCCGATTGCTGTGA	0.667																																						ENST00000368784.1																			0				large_intestine(1)|lung(7)|prostate(2)	10						c.(268-270)Gat>Aat		late cornified envelope 2D							43.0	55.0	51.0					1																	152636849		2196	4291	6487	SO:0001583	missense	353141				keratinization			g.chr1:152636849G>A	BI670513	CCDS1018.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000187223	ENSG00000187223		"""Late cornified envelopes"""	16518	protein-coding gene	gene with protein product		612612	"""small proline rich-like (epidermal differentiation complex) 1A"""	SPRL1A		11698679	Standard	NM_178430		Approved	LEP12	uc001fag.4	Q5TA82	OTTHUMG00000014400	ENST00000368784.1:c.268G>A	1.37:g.152636849G>A	ENSP00000357773:p.Asp90Asn						p.D90N	NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	323	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		90			Cys-rich.		A1L4M8	Missense_Mutation	SNP	ENST00000368784.1	37	c.268G>A	CCDS1018.1	.	.	.	.	.	.	.	.	.	.	g	8.739	0.918520	0.17982	.	.	ENSG00000187223	ENST00000368784	T	0.03580	3.88	2.75	2.75	0.32379	.	.	.	.	.	T	0.00754	0.0025	N	0.16130	0.375	0.09310	N	1	P	0.40197	0.706	B	0.24701	0.055	T	0.49826	-0.8898	9	0.87932	D	0	.	8.728	0.34480	0.0:0.0:1.0:0.0	.	90	Q5TA82	LCE2D_HUMAN	N	90	ENSP00000357773:D90N	ENSP00000357773:D90N	D	+	1	0	LCE2D	150903473	0.003000	0.15002	0.002000	0.10522	0.025000	0.11179	1.213000	0.32407	1.356000	0.45884	0.305000	0.20034	GAT		0.667	LCE2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040058.1	NM_178430		4	88	0	0	0	1	0	4	88				
PIK3CB	5291	broad.mit.edu	37	3	138376590	138376590	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr3:138376590A>T	ENST00000477593.1	-	21	2957	c.2884T>A	c.(2884-2886)Tat>Aat	p.Y962N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N|PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	962	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATGAAATCATAGGTAAGAATA	0.383																																						ENST00000477593.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(2884-2886)Tat>Aat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							117.0	116.0	116.0					3																	138376590		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138376590A>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.2884T>A	3.37:g.138376590A>T	ENSP00000418143:p.Tyr962Asn					PIK3CB_ENST00000544716.1_Missense_Mutation_p.Y413N|PIK3CB_ENST00000289153.2_Missense_Mutation_p.Y962N	p.Y962N			P42338	PK3CB_HUMAN			21	2957	-			962			PI3K/PI4K.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.2884T>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	A	9.937	1.216452	0.22373	.	.	ENSG00000051382	ENST00000477593;ENST00000544716;ENST00000289153	T;T;T	0.80304	-1.36;-1.36;-1.36	5.62	5.62	0.85841	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.056155	0.64402	D	0.000001	T	0.69682	0.3138	N	0.17631	0.505	0.80722	D	1	B;B;B	0.24618	0.037;0.009;0.107	B;B;B	0.28991	0.06;0.023;0.097	T	0.65067	-0.6258	10	0.15952	T	0.53	-18.5065	15.8288	0.78736	1.0:0.0:0.0:0.0	.	962;549;413	P42338;B4DZI3;Q68DL0	PK3CB_HUMAN;.;.	N	962;413;962	ENSP00000418143:Y962N;ENSP00000438259:Y413N;ENSP00000289153:Y962N	ENSP00000289153:Y962N	Y	-	1	0	PIK3CB	139859280	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.137000	0.71710	2.131000	0.65755	0.528000	0.53228	TAT		0.383	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			4	37	0	0	0	1	0	4	37				
SIGLEC12	89858	broad.mit.edu	37	19	52001535	52001535	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr19:52001535G>T	ENST00000291707.3	-	5	1197	c.1142C>A	c.(1141-1143)aCa>aAa	p.T381K	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	381	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTCAAGGTTGTGGATGCTGT	0.557																																						ENST00000291707.3																			0				NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61						c.(1141-1143)aCa>aAa		sialic acid binding Ig-like lectin 12 (gene/pseudogene)							27.0	23.0	24.0					19																	52001535		2201	4298	6499	SO:0001583	missense	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001535G>T	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1142C>A	19.37:g.52001535G>T	ENSP00000291707:p.Thr381Lys					SIGLEC12_ENST00000598614.1_Missense_Mutation_p.T263K	p.T381K	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1197	-		all_neural(266;0.0199)	381			Ig-like C2-type 2.		Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	37	c.1142C>A	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.246975	0.00271	.	.	ENSG00000254521	ENST00000291707	T	0.38240	1.15	1.39	-1.74	0.08056	Immunoglobulin-like (1);	0.477412	0.15421	U	0.263248	T	0.12263	0.0298	N	0.05124	-0.11	0.09310	N	1	B;B	0.20988	0.05;0.034	B;B	0.24701	0.055;0.01	T	0.32981	-0.9886	10	0.05721	T	0.95	.	5.346	0.16010	0.0:0.0:0.4117:0.5883	.	381;263	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	K	381	ENSP00000291707:T381K	ENSP00000291707:T381K	T	-	2	0	SIGLEC12	56693347	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.433000	0.02428	-0.322000	0.08615	0.393000	0.25936	ACA		0.557	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		5	1	1	0	0.000602214	1	0.000619927	5	1				
MARCH1	55016	broad.mit.edu	37	4	164534558	164534558	+	Intron	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr4:164534558G>C	ENST00000503008.1	-	5	1139				MARCH1_ENST00000514618.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000339875.5_Missense_Mutation_p.N33K	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GGAGAAACAAGTTAGATAATT	0.438																																						ENST00000339875.5																			0				endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(97-99)aaC>aaG		membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase							139.0	126.0	130.0					4																	164534558		2203	4300	6503	SO:0001627	intron_variant	55016				antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr4:164534558G>C	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.163-13C>G	4.37:g.164534558G>C						MARCH1_ENST00000503008.1_Intron|MARCH1_ENST00000274056.7_Intron|MARCH1_ENST00000514618.1_Intron	p.N33K	NM_017923.3	NP_060393.1	Q8TCQ1	MARH1_HUMAN			1	128	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	50			Responsible for low stability (By similarity).		D3DP29|Q9NWR0	Missense_Mutation	SNP	ENST00000503008.1	37	c.99C>G	CCDS54814.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459168	0.43634	.	.	ENSG00000145416	ENST00000339875	T	0.32515	1.45	5.84	4.99	0.66335	.	.	.	.	.	T	0.29491	0.0735	L	0.55990	1.75	0.80722	D	1	B	0.32188	0.359	B	0.33620	0.167	T	0.03060	-1.1077	8	.	.	.	.	11.4996	0.50430	0.1377:0.0:0.8623:0.0	.	33	Q8TCQ1-2	.	K	33	ENSP00000345676:N33K	.	N	-	3	2	MARCH1	164754008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.784000	0.47774	2.754000	0.94517	0.655000	0.94253	AAC		0.438	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923		17	36	0	0	0	1	0	17	36				
MTMR7	9108	broad.mit.edu	37	8	17188685	17188685	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr8:17188685C>T	ENST00000180173.5	-	7	873	c.839G>A	c.(838-840)aGg>aAg	p.R280K	MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	280	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CAGACTGTTCCTCATGACATG	0.383																																						ENST00000180173.5																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(838-840)aGg>aAg		myotubularin related protein 7							208.0	181.0	190.0					8																	17188685		2203	4300	6503	SO:0001583	missense	9108						protein tyrosine phosphatase activity	g.chr8:17188685C>T	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.839G>A	8.37:g.17188685C>T	ENSP00000180173:p.Arg280Lys					MTMR7_ENST00000521857.1_Missense_Mutation_p.R280K	p.R280K	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN		Colorectal(111;0.112)	7	873	-			280			Myotubularin phosphatase.		A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	37	c.839G>A	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	C	35	5.505421	0.96371	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.93604	-3.25;-3.25	5.11	5.11	0.69529	Myotubularin phosphatase domain (1);	0.000000	0.85682	D	0.000000	D	0.96759	0.8942	M	0.80746	2.51	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.74348	0.983;0.935	D	0.96862	0.9633	10	0.72032	D	0.01	.	19.1213	0.93365	0.0:1.0:0.0:0.0	.	280;280	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	K	280	ENSP00000180173:R280K;ENSP00000429733:R280K	ENSP00000180173:R280K	R	-	2	0	MTMR7	17233056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.630000	0.83225	2.832000	0.97577	0.655000	0.94253	AGG		0.383	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686		7	45	0	0	0	1	0	7	45				
GUCY2C	2984	broad.mit.edu	37	12	14766078	14766078	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:14766078G>A	ENST00000261170.3	-	27	3331	c.3195C>T	c.(3193-3195)acC>acT	p.T1065T	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1065					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.T1065T(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CCTTGTCTGTGGTATTCAGCT	0.438																																						ENST00000261170.3																			1	Substitution - coding silent(1)	p.T1065T(1)	lung(1)	breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3193-3195)acC>acT		guanylate cyclase 2C (heat stable enterotoxin receptor)							213.0	208.0	210.0					12																	14766078		2203	4300	6503	SO:0001819	synonymous_variant	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766078G>A		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3195C>T	12.37:g.14766078G>A						RP11-695J4.2_ENST00000545424.1_RNA|RP11-695J4.2_ENST00000542401.1_RNA	p.T1065T	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			27	3331	-			1065					B2RMY6	Silent	SNP	ENST00000261170.3	37	c.3195C>T	CCDS8664.1																																																																																				0.438	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			58	98	0	0	0	1	0	58	98				
GGT3P	2679	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	byFrequency	TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr22:18778612C>T	ENST00000412448.1	-	0	793							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										GCGGCCACGGCAGCCCTGGTG	0.637																																						ENST00000412448.1																			0																																																			0							g.chr22:18778612C>T			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18778612C>T														0	793	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.637	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		4	13	0	0	0	1	0	4	13				
OCA2	4948	broad.mit.edu	37	15	28202759	28202759	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr15:28202759C>T	ENST00000354638.3	-	16	1914	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	OCA2_ENST00000382996.2_Missense_Mutation_p.A587T|OCA2_ENST00000353809.5_Missense_Mutation_p.A563T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	587					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGCCTCCGGGCGAGCAGGTGC	0.652									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(1759-1761)Gcc>Acc		oculocutaneous albinism II							35.0	38.0	37.0					15																	28202759		2195	4277	6472	SO:0001583	missense	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28202759C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1759G>A	15.37:g.28202759C>T	ENSP00000346659:p.Ala587Thr					OCA2_ENST00000353809.5_Missense_Mutation_p.A563T|OCA2_ENST00000382996.2_Missense_Mutation_p.A587T	p.A587T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	16	1914	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	587					Q15211|Q15212|Q96EN1|Q9UMI5	Missense_Mutation	SNP	ENST00000354638.3	37	c.1759G>A	CCDS10020.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252099	0.39797	.	.	ENSG00000104044	ENST00000354638;ENST00000353809;ENST00000382996	D;D;D	0.90504	-2.68;-2.58;-2.61	5.8	4.79	0.61399	Divalent ion symporter (1);	0.230229	0.40818	N	0.001018	D	0.84727	0.5536	N	0.22421	0.69	0.31851	N	0.622234	P;P	0.51147	0.757;0.942	B;P	0.48627	0.248;0.584	D	0.84634	0.0691	10	0.52906	T	0.07	-20.6712	5.4349	0.16476	0.0:0.7725:0.0:0.2275	.	563;587	Q04671-2;Q04671	.;P_HUMAN	T	587;563;587	ENSP00000346659:A587T;ENSP00000261276:A563T;ENSP00000372457:A587T	ENSP00000261276:A563T	A	-	1	0	OCA2	25876354	1.000000	0.71417	0.995000	0.50966	0.245000	0.25701	3.648000	0.54410	2.746000	0.94184	0.591000	0.81541	GCC		0.652	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		16	16	0	0	0	1	0	16	16				
KCNK5	8645	broad.mit.edu	37	6	39159466	39159466	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:39159466C>T	ENST00000359534.3	-	5	1038	c.700G>A	c.(700-702)Ggg>Agg	p.G234R		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CAGGCCAGCCCCAAGTAGATC	0.577																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(700-702)Ggg>Agg		potassium channel, subfamily K, member 5							83.0	94.0	90.0					6																	39159466		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159466C>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.700G>A	6.37:g.39159466C>T	ENSP00000352527:p.Gly234Arg						p.G234R	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			5	1038	-			234					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.700G>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931871	0.92389	.	.	ENSG00000164626	ENST00000359534	T	0.61627	0.09	5.27	5.27	0.74061	Ion transport 2 (1);	0.045585	0.85682	N	0.000000	T	0.82157	0.4976	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87285	0.2295	10	0.87932	D	0	.	19.2502	0.93921	0.0:1.0:0.0:0.0	.	234	O95279	KCNK5_HUMAN	R	234	ENSP00000352527:G234R	ENSP00000352527:G234R	G	-	1	0	KCNK5	39267444	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.776000	0.85560	2.619000	0.88677	0.561000	0.74099	GGG		0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		17	62	0	0	0	1	0	17	62				
MAGEA4	4103	broad.mit.edu	37	X	151092403	151092403	+	Silent	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chrX:151092403C>T	ENST00000360243.2	+	3	534	c.267C>T	c.(265-267)agC>agT	p.S89S	MAGEA4_ENST00000370340.3_Silent_p.S89S|MAGEA4_ENST00000276344.2_Silent_p.S89S|MAGEA4_ENST00000393921.1_Silent_p.S89S|MAGEA4_ENST00000393920.1_Silent_p.S89S|MAGEA4_ENST00000370337.4_Silent_p.S89S|MAGEA4_ENST00000370335.1_Silent_p.S89S	NM_001011550.1	NP_001011550.1	P43358	MAGA4_HUMAN	melanoma antigen family A, 4	89										breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTTCCAGCAGCCAAGAAG	0.572																																						ENST00000370340.3																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27						c.(265-267)agC>agT		melanoma antigen family A, 4							72.0	67.0	68.0					X																	151092403		2203	4299	6502	SO:0001819	synonymous_variant	4103						protein binding	g.chrX:151092403C>T		CCDS14702.1	Xq28	2009-03-13			ENSG00000147381	ENSG00000147381			6802	protein-coding gene	gene with protein product	"""melanoma-associated antigen 4"", ""cancer/testis antigen family 1, member 4"""	300175		MAGE4		8575766	Standard	XM_005274677		Approved	MAGE4A, MAGE4B, MAGE-41, MAGE-X2, MGC21336, CT1.4	uc004ffa.3	P43358	OTTHUMG00000024174	ENST00000360243.2:c.267C>T	X.37:g.151092403C>T						MAGEA4_ENST00000393921.1_Silent_p.S89S|MAGEA4_ENST00000370335.1_Silent_p.S89S|MAGEA4_ENST00000276344.2_Silent_p.S89S|MAGEA4_ENST00000393920.1_Silent_p.S89S|MAGEA4_ENST00000360243.2_Silent_p.S89S|MAGEA4_ENST00000370337.4_Silent_p.S89S	p.S89S			P43358	MAGA4_HUMAN			3	534	+	Acute lymphoblastic leukemia(192;6.56e-05)		89					Q14798	Silent	SNP	ENST00000360243.2	37	c.267C>T	CCDS14702.1																																																																																				0.572	MAGEA4-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060898.1	NM_002362		4	32	0	0	0	1	0	4	32				
HMGCL	3155	broad.mit.edu	37	1	24130988	24130988	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:24130988C>T	ENST00000374490.3	-	8	821	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M|HMGCL_ENST00000374483.4_Missense_Mutation_p.V235M|HMGCL_ENST00000509389.1_5'UTR	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	260					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		AGTCCTGCCACAGAAGAGTCC	0.537																																						ENST00000374483.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						c.(703-705)Gtg>Atg		3-hydroxymethyl-3-methylglutaryl-CoA lyase							108.0	82.0	91.0					1																	24130988		2203	4300	6503	SO:0001583	missense	3155				acetoacetic acid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA lyase activity|metal ion binding	g.chr1:24130988C>T	BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.778G>A	1.37:g.24130988C>T	ENSP00000363614:p.Val260Met					HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000436439.2_Missense_Mutation_p.V189M|HMGCL_ENST00000374490.3_Missense_Mutation_p.V260M	p.V235M			P35914	HMGCL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)	9	1374	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)	260					B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Missense_Mutation	SNP	ENST00000374490.3	37	c.703G>A	CCDS243.1	.	.	.	.	.	.	.	.	.	.	C	31	5.099963	0.94197	.	.	ENSG00000117305	ENST00000374490;ENST00000436439;ENST00000374483;ENST00000543166	D;D;D	0.98901	-5.22;-5.22;-5.22	5.27	5.27	0.74061	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.057170	0.64402	N	0.000001	D	0.99236	0.9734	M	0.87971	2.92	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.994;0.999;0.994	D	0.99470	1.0945	10	0.87932	D	0	-15.0396	18.4821	0.90815	0.0:1.0:0.0:0.0	.	189;260;130;260	B4DUP4;Q6IBC0;B7UCC6;P35914	.;.;.;HMGCL_HUMAN	M	260;189;235;101	ENSP00000363614:V260M;ENSP00000389281:V189M;ENSP00000363607:V235M	ENSP00000363607:V235M	V	-	1	0	HMGCL	24003575	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.729000	0.84864	2.482000	0.83794	0.549000	0.68633	GTG		0.537	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191		15	44	0	0	0	1	0	15	44				
KCNK2	3776	broad.mit.edu	37	1	215408426	215408426	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:215408426C>A	ENST00000444842.2	+	7	1369	c.1219C>A	c.(1219-1221)Ctg>Atg	p.L407M	KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M|KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	407	Essential for chloroform and halothane sensitivity. {ECO:0000250}.|Required for basal channel activity. {ECO:0000250}.				G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	GAGTATCTATCTGAATGGTTT	0.478																																						ENST00000444842.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30						c.(1219-1221)Ctg>Atg		potassium channel, subfamily K, member 2	Dofetilide(DB00204)						142.0	139.0	140.0					1																	215408426		2203	4300	6503	SO:0001583	missense	3776						outward rectifier potassium channel activity	g.chr1:215408426C>A	AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1219C>A	1.37:g.215408426C>A	ENSP00000394033:p.Leu407Met					KCNK2_ENST00000391895.2_Missense_Mutation_p.L403M|KCNK2_ENST00000391894.2_Missense_Mutation_p.L392M	p.L407M	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	7	1369	+			407			Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).		A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	ENST00000444842.2	37	c.1219C>A	CCDS41467.1	.	.	.	.	.	.	.	.	.	.	C	9.666	1.145405	0.21288	.	.	ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842	T;T;T	0.27256	1.69;1.71;1.68	5.72	4.77	0.60923	.	0.361804	0.26418	N	0.024488	T	0.13670	0.0331	N	0.14661	0.345	0.37226	D	0.905469	B;B;B	0.13594	0.002;0.004;0.008	B;B;B	0.18263	0.012;0.016;0.021	T	0.14282	-1.0478	10	0.25751	T	0.34	.	6.922	0.24393	0.2197:0.6787:0.0:0.1015	.	392;407;403	O95069-2;O95069;O95069-3	.;KCNK2_HUMAN;.	M	403;392;407	ENSP00000375765:L403M;ENSP00000375764:L392M;ENSP00000394033:L407M	ENSP00000375764:L392M	L	+	1	2	KCNK2	213475049	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.403000	0.34612	1.290000	0.44636	0.561000	0.74099	CTG		0.478	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2	NM_014217		10	68	1	0	3.07112e-06	1	3.46739e-06	10	68				
KCNG4	93107	broad.mit.edu	37	16	84256130	84256130	+	Missense_Mutation	SNP	G	G	A	rs140682724	byFrequency	TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr16:84256130G>A	ENST00000308251.4	-	3	1321	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	418					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GTAGCCCACCGTTGTCATGGA	0.642													G|||	3	0.000599042	0.0015	0.0	5008	,	,		19172	0.001		0.0	False		,,,				2504	0.0					ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1252-1254)aCg>aTg		potassium voltage-gated channel, subfamily G, member 4		G	MET/THR	10,4390	16.8+/-37.8	0,10,2190	43.0	40.0	41.0		1253	5.6	0.6	16	dbSNP_134	41	3,8597	3.0+/-9.4	0,3,4297	yes	missense	KCNG4	NM_172347.2	81	0,13,6487	AA,AG,GG		0.0349,0.2273,0.1	probably-damaging	418/520	84256130	13,12987	2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84256130G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1253C>T	16.37:g.84256130G>A	ENSP00000312129:p.Thr418Met						p.T418M	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1321	-			418					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.1253C>T	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499515	0.85176	0.002273	3.49E-4	ENSG00000168418	ENST00000308251	D	0.99239	-5.61	5.61	5.61	0.85477	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99760	0.9903	H	0.99555	4.625	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96905	0.9663	10	0.87932	D	0	.	18.6264	0.91340	0.0:0.0:1.0:0.0	.	418	Q8TDN1	KCNG4_HUMAN	M	418	ENSP00000312129:T418M	ENSP00000312129:T418M	T	-	2	0	KCNG4	82813631	1.000000	0.71417	0.615000	0.29064	0.989000	0.77384	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	ACG		0.642	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		4	37	0	0	0	1	0	4	37				
SNX19	399979	broad.mit.edu	37	11	130775905	130775905	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr11:130775905C>T	ENST00000265909.4	-	7	2955	c.2386G>A	c.(2386-2388)Gac>Aac	p.D796N	SNX19_ENST00000530356.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000539184.1_Missense_Mutation_p.D239N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	796					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGCAACTGTCCACACGTCCT	0.527																																						ENST00000265909.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35						c.(2386-2388)Gac>Aac		sorting nexin 19							141.0	122.0	129.0					11																	130775905		2201	4297	6498	SO:0001583	missense	399979				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	g.chr11:130775905C>T	D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2386G>A	11.37:g.130775905C>T	ENSP00000265909:p.Asp796Asn					SNX19_ENST00000533214.1_Missense_Mutation_p.D779N|SNX19_ENST00000545537.1_Missense_Mutation_p.D36N|SNX19_ENST00000528555.1_Missense_Mutation_p.D176N|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Missense_Mutation_p.D176N|SNX19_ENST00000534726.1_Missense_Mutation_p.D36N|SNX19_ENST00000539184.1_Missense_Mutation_p.D239N	p.D796N	NM_014758.2	NP_055573.2	Q92543	SNX19_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)	7	2955	-	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)	796					E9PKB9|Q8IV55	Missense_Mutation	SNP	ENST00000265909.4	37	c.2386G>A	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	C	19.58	3.854459	0.71719	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000528555;ENST00000530356;ENST00000539184;ENST00000533214	T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.61	4.7	0.59300	.	0.654089	0.17191	N	0.183500	T	0.57051	0.2027	M	0.63428	1.95	0.09310	N	1	P;D;P	0.57899	0.787;0.981;0.651	B;P;B	0.45829	0.372;0.494;0.15	T	0.54063	-0.8349	10	0.51188	T	0.08	-15.7736	9.6663	0.39986	0.0:0.8388:0.0:0.1612	.	239;779;796	F5H5D1;E9PKB9;Q92543	.;.;SNX19_HUMAN	N	796;36;36;176;176;239;779	ENSP00000265909:D796N;ENSP00000433699:D36N;ENSP00000437982:D36N;ENSP00000435122:D176N;ENSP00000432307:D176N;ENSP00000443480:D239N;ENSP00000435390:D779N	ENSP00000265909:D796N	D	-	1	0	SNX19	130281115	0.875000	0.30112	0.465000	0.27155	0.064000	0.16182	2.666000	0.46799	1.370000	0.46153	0.655000	0.94253	GAC		0.527	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		9	40	0	0	0	1	0	9	40				
PRKAB1	5564	broad.mit.edu	37	12	120110138	120110138	+	Silent	SNP	G	G	A			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr12:120110138G>A	ENST00000229328.5	+	2	684	c.192G>A	c.(190-192)caG>caA	p.Q64Q	PRKAB1_ENST00000540121.1_5'UTR|PRKAB1_ENST00000541640.1_Silent_p.Q64Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	64					cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	TGGCCTGGCAGCATGATCTGG	0.512																																						ENST00000229328.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(190-192)caG>caA		protein kinase, AMP-activated, beta 1 non-catalytic subunit	Adenosine monophosphate(DB00131)|Metformin(DB00331)						126.0	140.0	135.0					12																	120110138		2203	4300	6503	SO:0001819	synonymous_variant	5564				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		g.chr12:120110138G>A	BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.192G>A	12.37:g.120110138G>A						PRKAB1_ENST00000541640.1_Silent_p.Q64Q|PRKAB1_ENST00000540121.1_5'UTR	p.Q64Q	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.166)	2	684	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		64					Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Silent	SNP	ENST00000229328.5	37	c.192G>A	CCDS9191.1																																																																																				0.512	PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253		4	121	0	0	0	1	0	4	121				
TRIM37	4591	broad.mit.edu	37	17	57140009	57140009	+	Splice_Site	SNP	G	G	C			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:57140009G>C	ENST00000262294.7	-	11	1120	c.861C>G	c.(859-861)agC>agG	p.S287R	TRIM37_ENST00000393065.2_Splice_Site_p.S253R|TRIM37_ENST00000393066.3_Splice_Site_p.S287R|TRIM37_ENST00000376149.3_Splice_Site_p.S165R	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	287	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GACGCAAAGTGCTAACGAAAA	0.383									Mulibrey Nanism																													ENST00000376149.3																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.e11-1		tripartite motif containing 37							70.0	65.0	67.0					17																	57140009		2203	4300	6503	SO:0001630	splice_region_variant	4591	Mulibrey Nanism	Familial Cancer Database	Perheentupa syndrome		perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	g.chr17:57140009G>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972		ENST00000262294.7:c.861-1C>G	17.37:g.57140009G>C						TRIM37_ENST00000262294.7_Splice_Site_p.S287_splice|TRIM37_ENST00000393065.2_Splice_Site_p.S253_splice|TRIM37_ENST00000393066.3_Splice_Site_p.S287_splice	p.S165_splice			O94972	TRI37_HUMAN			11	1304	-	Medulloblastoma(34;0.0922)|all_neural(34;0.101)		287					Q7Z3E6|Q8IYF7|Q8WYF7	Splice_Site	SNP	ENST00000262294.7	37	c.494_splice	CCDS32694.1	.	.	.	.	.	.	.	.	.	.	G	9.061	0.994510	0.19043	.	.	ENSG00000108395	ENST00000393066;ENST00000262294;ENST00000376149;ENST00000393065	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.47	1.19	0.21007	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.88377	2.95	0.58432	D	0.99999	P;D;P	0.89917	0.849;1.0;0.642	P;D;P	0.85130	0.455;0.997;0.475	T	0.73154	-0.4072	10	0.56958	D	0.05	.	10.0611	0.42275	0.3564:0.0:0.6436:0.0	.	253;165;287	F8WEE6;O94972-2;O94972	.;.;TRI37_HUMAN	R	287;287;165;253	ENSP00000376785:S287R;ENSP00000262294:S287R;ENSP00000365319:S165R;ENSP00000376784:S253R	ENSP00000262294:S287R	S	-	3	2	TRIM37	54494791	1.000000	0.71417	0.992000	0.48379	0.570000	0.35934	1.372000	0.34261	0.271000	0.22005	-0.142000	0.14014	AGC		0.383	TRIM37-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445930.1	NM_015294	Missense_Mutation	3	19	0	0	0	1	0	3	19				
BIRC5	332	broad.mit.edu	37	17	76212836	76212836	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr17:76212836G>T	ENST00000350051.3	+	3	432	c.313G>T	c.(313-315)Gac>Tac	p.D105Y	BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Intron|AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000301633.4_Missense_Mutation_p.D128Y|BIRC5_ENST00000592734.1_Intron	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	105					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			TTTGAAACTGGACAGAGAAAG	0.388																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(382-384)Gac>Tac		baculoviral IAP repeat containing 5							65.0	71.0	69.0					17																	76212836		2203	4300	6503	SO:0001583	missense	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212836G>T	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.313G>T	17.37:g.76212836G>T	ENSP00000324180:p.Asp105Tyr					AC087645.1_ENST00000600484.1_Missense_Mutation_p.S254Y|BIRC5_ENST00000589892.1_3'UTR|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000350051.3_Missense_Mutation_p.D105Y	p.D128Y	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		4	513	+			105	A -> V (in Ref. 9; CAG46540).				A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	ENST00000350051.3	37	c.382G>T	CCDS11755.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583307	0.65992	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.03920	3.76;3.76	5.62	4.64	0.57946	Baculoviral inhibition of apoptosis protein repeat (1);	0.150748	0.64402	D	0.000014	T	0.14056	0.0340	M	0.68952	2.095	0.80722	D	1	P;P;D;D	0.64830	0.701;0.856;0.994;0.991	B;B;D;P	0.65443	0.322;0.343;0.935;0.73	T	0.19712	-1.0297	10	0.07813	T	0.8	-18.4279	12.1858	0.54239	0.0836:0.0:0.9164:0.0	.	105;105;128;105	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	Y	128;105;128	ENSP00000301633:D128Y;ENSP00000324180:D105Y	ENSP00000301633:D128Y	D	+	1	0	BIRC5	73724431	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.798000	0.55522	1.364000	0.46038	0.462000	0.41574	GAC		0.388	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437231.2	NM_001168		19	40	1	0	3.8784e-16	1	4.5248e-16	19	40				
AGL	178	broad.mit.edu	37	1	100380996	100380997	+	Frame_Shift_Ins	INS	-	-	A	rs28730708		TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr1:100380996_100380997insA	ENST00000294724.4	+	31	4691_4692	c.4213_4214insA	c.(4213-4215)gaafs	p.E1405fs	AGL_ENST00000370165.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.E1405fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.E1389fs|AGL_ENST00000370161.2_Frame_Shift_Ins_p.E1389fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.E1388fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1405					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGAGATTGCAGAAAAAAAATTG	0.327																																						ENST00000294724.4																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69						c.(4213-4215)aaafs		amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase																																				SO:0001589	frameshift_variant	178				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding	g.chr1:100380996_100380997insA	BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4221dupA	1.37:g.100381004_100381004dupA	ENSP00000294724:p.Glu1405fs					AGL_ENST00000370165.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361915.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361522.4_Frame_Shift_Ins_p.K1388fs|AGL_ENST00000370163.3_Frame_Shift_Ins_p.K1405fs|AGL_ENST00000361302.3_Frame_Shift_Ins_p.K1389fs|AGL_ENST00000370161.2_Frame_Shift_Ins_p.K1389fs	p.K1405fs	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)	31	4691_4692	+		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)	1405					A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Frame_Shift_Ins	INS	ENST00000294724.4	37	c.4213_4214insA	CCDS759.1																																																																																				0.327	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		15	76						15	76	---	---	---	---
CAMKMT	79823	broad.mit.edu	37	2	44599960	44599960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:44599960delG	ENST00000378494.3	+	2	288	c.244delG	c.(244-246)gaafs	p.E84fs	CAMKMT_ENST00000477623.1_3'UTR|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs	NM_024766.4	NP_079042.1	Q7Z624	CMKMT_HUMAN	calmodulin-lysine N-methyltransferase	84						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	calmodulin-lysine N-methyltransferase activity (GO:0018025)			breast(2)|large_intestine(3)|lung(5)	10						AAGGGAAACTGAAGAGGAGGT	0.373																																						ENST00000378494.3																			0				breast(2)|large_intestine(3)|lung(5)	10						c.(244-246)aafs		calmodulin-lysine N-methyltransferase							151.0	158.0	155.0					2																	44599960		2203	4300	6503	SO:0001589	frameshift_variant	79823					cytoplasm	calmodulin-lysine N-methyltransferase activity	g.chr2:44599960delG		CCDS1820.1	2p21	2011-06-22	2011-03-10	2011-03-10	ENSG00000143919	ENSG00000143919	2.1.1.60		26276	protein-coding gene	gene with protein product	"""CaM KMT"""	609559	"""chromosome 2 open reading frame 34"""	C2orf34		20975703	Standard	NM_024766		Approved	CLNMT	uc002rum.3	Q7Z624	OTTHUMG00000128761	ENST00000378494.3:c.244delG	2.37:g.44599960delG	ENSP00000367755:p.Glu84fs					CAMKMT_ENST00000403853.3_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000407131.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000402247.1_Frame_Shift_Del_p.E84fs|CAMKMT_ENST00000477623.1_3'UTR	p.E84fs	NM_024766.3	NP_079042.1	Q7Z624	CMKMT_HUMAN			2	288	+			84					Q4ZG15|Q53SS6|Q8N6P5|Q9H5G8	Frame_Shift_Del	DEL	ENST00000378494.3	37	c.244delG	CCDS1820.1																																																																																				0.373	CAMKMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250678.2	NM_024766		20	30						20	30	---	---	---	---
BAZ2B	29994	broad.mit.edu	37	2	160285752	160285754	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr2:160285752_160285754delTCT	ENST00000392783.2	-	11	2707_2709	c.2212_2214delAGA	c.(2212-2214)agadel	p.R738del	BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del|BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del|BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CATCTGTTACTCTTCTTCTTTTG	0.266																																						ENST00000392783.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						c.(2212-2214)del		bromodomain adjacent to zinc finger domain, 2B																																				SO:0001651	inframe_deletion	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160285752_160285754delTCT	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.2212_2214delAGA	2.37:g.160285758_160285760delTCT	ENSP00000376534:p.Arg738del					BAZ2B_ENST00000392782.1_In_Frame_Del_p.R736del|BAZ2B_ENST00000355831.2_In_Frame_Del_p.R738del|BAZ2B_ENST00000343439.5_In_Frame_Del_p.R638del	p.R738del	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN			11	2707_2709	-			738					D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	In_Frame_Del	DEL	ENST00000392783.2	37	c.2212_2214delAGA	CCDS2209.2																																																																																				0.266	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			9	35						9	35	---	---	---	---
RXRB	6257	broad.mit.edu	37	6	33159947	33159947	+	IGR	DEL	G	G	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:33159947delG	ENST00000374680.3	-	0	2908				COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395194.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P24fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta						cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCCCAGCCTGGGGCCGCGCT	0.677																																						ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(70-72)cafs		collagen, type XI, alpha 2							9.0	7.0	7.0					6																	33159947		1463	2665	4128	SO:0001628	intergenic_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33159947delG	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298		6.37:g.33159947delG						COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395194.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P24fs|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P24fs	p.P24fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			1	298	-			24					P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	ENST00000374680.3	37	c.71delC	CCDS4768.1																																																																																				0.677	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976		2	4						2	4	---	---	---	---
RAB32	10981	broad.mit.edu	37	6	146865012	146865013	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr6:146865012_146865013insG	ENST00000367495.3	+	1	184_185	c.5_6insG	c.(4-9)gcgggcfs	p.AG2fs		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	2					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		GCGCTCATGGCGGGCGGAGGAg	0.792																																						ENST00000367495.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8						c.(4-6)gggfs		RAB32, member RAS oncogene family																																				SO:0001589	frameshift_variant	10981				protein transport|small GTPase mediated signal transduction	mitochondrion	GTP binding	g.chr6:146865012_146865013insG	U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.8dupG	6.37:g.146865015_146865015dupG	ENSP00000356465:p.Ala2fs						p.G2fs	NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)	1	184_185	+		Ovarian(120;0.142)	2						Frame_Shift_Ins	INS	ENST00000367495.3	37	c.5_6insG	CCDS5210.1																																																																																				0.792	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042579.1	NM_006834		2	4						2	4	---	---	---	---
CYP2W1	54905	broad.mit.edu	37	7	1027017	1027017	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr7:1027017delC	ENST00000308919.7	+	7	1006	c.993delC	c.(991-993)ggcfs	p.G331fs	CYP2W1_ENST00000340150.6_Frame_Shift_Del_p.G275fs	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	331					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCGTGCTGGGCCCTGGGCGGA	0.731																																						ENST00000340150.6																			0				breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7						c.(823-825)ggfs		cytochrome P450, family 2, subfamily W, polypeptide 1							10.0	13.0	12.0					7																	1027017		2152	4264	6416	SO:0001589	frameshift_variant	54905				xenobiotic metabolic process	endoplasmic reticulum membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr7:1027017delC	AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.993delC	7.37:g.1027017delC	ENSP00000310149:p.Gly331fs					CYP2W1_ENST00000308919.7_Frame_Shift_Del_p.G331fs	p.G275fs			Q8TAV3	CP2W1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)	7	847	+		Ovarian(82;0.0112)	331						Frame_Shift_Del	DEL	ENST00000308919.7	37	c.825delC	CCDS5319.2																																																																																				0.731	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157249.1	NM_017781		2	4						2	4	---	---	---	---
NUTM2G	441457	broad.mit.edu	37	9	99698708	99698708	+	Splice_Site	DEL	T	T	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr9:99698708delT	ENST00000372322.3	+	4	865	c.844delT	c.(844-846)ttc>tc	p.F282fs	NUTM2G_ENST00000354649.3_Splice_Site_p.F282fs|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	282																	CACCCCCAGGTTCCTGGAGTT	0.667																																						ENST00000354649.3																			0											c.e4-1		NUT family member 2G							16.0	20.0	19.0					9																	99698708		1896	3926	5822	SO:0001630	splice_region_variant	441457							g.chr9:99698708delT		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.843-1T>-	9.37:g.99698708delT						NUTM2G_ENST00000372322.3_Splice_Site_p.F282_splice|HIATL2_ENST00000506067.1_Intron	p.F282_splice	NM_001045477.2	NP_001038942.1					4	1559	+								A6NNI5|Q5VZR3	Splice_Site	DEL	ENST00000372322.3	37	c.842_splice	CCDS55329.1																																																																																				0.667	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741	Frame_Shift_Del	2	4						2	4	---	---	---	---
VAPA	9218	broad.mit.edu	37	18	9954142	9954143	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr18:9954142_9954143delTC	ENST00000400000.2	+	6	939_940	c.684_685delTC	c.(682-687)cttcctfs	p.P229fs	VAPA_ENST00000340541.4_Frame_Shift_Del_p.P274fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	229					cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CCAGTCCTCTTCCTTCACTTCT	0.391																																						ENST00000400000.2																			0				breast(1)|lung(2)|prostate(1)	4						c.(682-687)ctctfs		VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa																																				SO:0001589	frameshift_variant	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9954142_9954143delTC		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.684_685delTC	18.37:g.9954142_9954143delTC	ENSP00000382880:p.Pro229fs					VAPA_ENST00000340541.4_Frame_Shift_Del_p.LP273fs	p.LP228fs	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN			6	939_940	+			228					A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Frame_Shift_Del	DEL	ENST00000400000.2	37	c.684_685delTC	CCDS11848.2																																																																																				0.391	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			11	97						11	97	---	---	---	---
CA11	770	broad.mit.edu	37	19	49148883	49148883	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr19:49148883delC	ENST00000084798.4	-	1	686	c.7delG	c.(7-9)gctfs	p.A5fs	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	5						basolateral plasma membrane (GO:0016323)|extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	Zonisamide(DB00909)	CGAGCTGCAGCCCCCATCCCC	0.711																																						ENST00000084798.4																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14						c.(7-9)ctfs		carbonic anhydrase XI																																				SO:0001589	frameshift_variant	770					extracellular region		g.chr19:49148883delC	AF067662	CCDS12729.1	19q13.3	2012-07-02			ENSG00000063180	ENSG00000063180		"""Carbonic anhydrases"""	1370	protein-coding gene	gene with protein product	"""CA-RP XI"", ""carbonic anhydrase-related protein XI"", ""carbonic anhydrase-related protein 2"""	604644				9878252	Standard	XR_243956		Approved	CARP2, CARPX1	uc002pjz.1	O75493		ENST00000084798.4:c.7delG	19.37:g.49148883delC	ENSP00000084798:p.Ala5fs					SEC1P_ENST00000430145.2_RNA	p.A5fs	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)	1	686	-		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	5					O60596|Q6FHI1|Q9UEC4	Frame_Shift_Del	DEL	ENST00000084798.4	37	c.7delG	CCDS12729.1																																																																																				0.711	CA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466172.1	NM_001217		2	4						2	4	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5965634	5965639	+	In_Frame_Del	DEL	AGAAAG	AGAAAG	-	rs370561271		TCGA-KK-A8IH-01A-11D-A364-08	TCGA-KK-A8IH-11A-11D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1652a02-f1e2-4504-bc26-0bc6d272c104	9aec7505-e824-49cf-a520-b4d090863d67	g.chr20:5965634_5965639delAGAAAG	ENST00000378896.3	+	15	2318_2323	c.1941_1946delAGAAAG	c.(1939-1947)tcagaaaga>tca	p.ER648del	MCM8_ENST00000265187.4_In_Frame_Del_p.ER632del|MCM8_ENST00000378883.1_In_Frame_Del_p.ER601del|MCM8_ENST00000378886.2_In_Frame_Del_p.ER688del	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	648					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCCATTATCAGAAAGACTAAAGGTA	0.374																																						ENST00000378896.3																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						c.(1939-1947)tca>tc		minichromosome maintenance complex component 8																																				SO:0001651	inframe_deletion	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5965634_5965639delAGAAAG	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1941_1946delAGAAAG	20.37:g.5965634_5965639delAGAAAG	ENSP00000368174:p.Glu648_Arg649del					MCM8_ENST00000378883.1_In_Frame_Del_p.SER600del|MCM8_ENST00000378886.2_In_Frame_Del_p.SER687del|MCM8_ENST00000265187.4_In_Frame_Del_p.SER631del	p.SER647del	NM_032485.4|NM_182802.1	NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN			15	2318_2323	+			647					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	In_Frame_Del	DEL	ENST00000378896.3	37	c.1941_1946delAGAAAG	CCDS13094.1																																																																																				0.374	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		9	26						9	26	---	---	---	---
