#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
AADACL4	343066	broad.mit.edu	37	1	12726232	12726232	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:12726232A>G	ENST00000376221.1	+	4	710	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	237						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCTTTCAGCAGAACCAAAAT	0.517																																						uc001auf.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17						c.(709-711)cAg>cGg		Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.							160.0	161.0	161.0					1																	12726232		2203	4300	6503	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726232A>G		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.710A>G	1.37:g.12726232A>G	ENSP00000365395:p.Gln237Arg						p.Q237R	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	3	710	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	237						Missense_Mutation	SNP	ENST00000376221.1	37	c.710A>G	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980332	0.53827	.	.	ENSG00000204518	ENST00000376221	T	0.10860	2.83	4.23	1.83	0.25207	Alpha/beta hydrolase fold-3 (1);	0.150408	0.46442	N	0.000300	T	0.16685	0.0401	L	0.45228	1.405	0.39479	D	0.967852	D	0.55385	0.971	P	0.58210	0.835	T	0.01940	-1.1243	10	0.52906	T	0.07	-13.5355	7.8977	0.29717	0.8221:0.0:0.1779:0.0	.	237	Q5VUY2	ADCL4_HUMAN	R	237	ENSP00000365395:Q237R	ENSP00000365395:Q237R	Q	+	2	0	AADACL4	12648819	1.000000	0.71417	0.012000	0.15200	0.019000	0.09904	3.752000	0.55172	0.660000	0.30964	0.533000	0.62120	CAG		0.517	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1	NM_001013630	
ERICH3	127254	broad.mit.edu	37	1	75038917	75038917	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:75038917G>C	ENST00000326665.5	-	14	2695	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		826	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTTCTGTAAACTCTTC	0.582																																						uc001dgg.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(2476-2478)aCa>aGa		Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.							87.0	83.0	85.0					1																	75038917		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038917G>C																												ENST00000326665.5:c.2477C>G	1.37:g.75038917G>C	ENSP00000322609:p.Thr826Arg						p.T826R	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			13	2696	-			826			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.2477C>G	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	G	9.974	1.226149	0.22542	.	.	ENSG00000178965	ENST00000326665	T	0.24538	1.85	5.68	-0.866	0.10659	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	D	0.54601	0.967	P	0.46543	0.52	T	0.06409	-1.0828	9	0.13853	T	0.58	0.758	0.4516	0.00502	0.2952:0.1233:0.21:0.3715	.	826	Q5RHP9	CA173_HUMAN	R	826	ENSP00000322609:T826R	ENSP00000322609:T826R	T	-	2	0	C1orf173	74811505	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.730000	0.04915	0.324000	0.23333	0.655000	0.94253	ACA		0.582	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1		
MAGI3	260425	broad.mit.edu	37	1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:114215328G>A	ENST00000307546.9	+	18	3085	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_ENST00000369615.1_Missense_Mutation_p.A1004T|MAGI3_ENST00000369617.4_Missense_Mutation_p.A1029T|MAGI3_ENST00000369611.4_Missense_Mutation_p.A1004T	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1029					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458																																						uc001edk.3																			0		p.T1003T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(3010-3012)Gca>Aca		Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.							217.0	216.0	216.0					1																	114215328		2203	4300	6503	SO:0001583	missense	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114215328G>A	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3010G>A	1.37:g.114215328G>A	ENSP00000304604:p.Ala1004Thr					MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T	p.A1004T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	17	3191	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	1029					Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	ENST00000307546.9	37	c.3010G>A	CCDS44196.1	.	.	.	.	.	.	.	.	.	.	G	5.876	0.345845	0.11126	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611;ENST00000546156	T;T;T;T	0.16597	2.52;2.33;2.52;2.52	5.86	4.94	0.65067	.	0.165882	0.51477	D	0.000097	T	0.03827	0.0108	N	0.16478	0.41	0.09310	N	1	B;B;B	0.17268	0.021;0.0;0.005	B;B;B	0.11329	0.006;0.0;0.004	T	0.31166	-0.9953	10	0.19147	T	0.46	-13.5001	12.3558	0.55174	0.0801:0.0:0.9199:0.0	.	1004;1004;1029	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	T	1029;1004;1004;1004;44	ENSP00000358630:A1029T;ENSP00000304604:A1004T;ENSP00000358628:A1004T;ENSP00000358624:A1004T	ENSP00000304604:A1004T	A	+	1	0	MAGI3	114016851	0.893000	0.30496	0.069000	0.20011	0.164000	0.22412	3.285000	0.51716	2.776000	0.95493	0.650000	0.86243	GCA		0.458	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	NM_152900	
MTMR11	10903	broad.mit.edu	37	1	149906114	149906114	+	Missense_Mutation	SNP	G	G	A	rs368805416		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:149906114G>A	ENST00000439741.2	-	7	903	c.653C>T	c.(652-654)aCg>aTg	p.T218M	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_Missense_Mutation_p.T218M|MTMR11_ENST00000406732.3_Missense_Mutation_p.T190M|MTMR11_ENST00000369140.3_Missense_Mutation_p.T146M	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	218	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.T146M(1)|p.T218M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCGTTGACCGTGCTGACCCT	0.572													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18026	0.0		0.0	False		,,,				2504	0.0					uc001etl.4																			2	Substitution - Missense(2)	p.T146M(1)|p.T218M(1)	endometrium(2)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(652-654)aCg>aTg		Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.		G	MET/THR,MET/THR	0,4406		0,0,2203	91.0	86.0	88.0		437,653	3.0	0.6	1		88	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MTMR11	NM_181873.3,NM_001145862.1	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	146/641,218/710	149906114	1,13005	2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149906114G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.653C>T	1.37:g.149906114G>A	ENSP00000391668:p.Thr218Met					MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	p.T218M	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		6	904	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		218			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.653C>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561982	0.45590	0.0	1.16E-4	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000361405;ENST00000406732;ENST00000405710	D;D;T;D	0.93076	-3.16;-2.68;0.83;-3.16	6.07	3.01	0.34805	Myotubularin phosphatase domain (1);	0.263784	0.38436	N	0.001687	D	0.84942	0.5584	L	0.58810	1.83	0.34148	D	0.667156	B;B;B;B	0.18610	0.029;0.029;0.029;0.017	B;B;B;B	0.18263	0.014;0.021;0.021;0.009	T	0.79629	-0.1724	10	0.48119	T	0.1	.	8.9984	0.36066	0.2585:0.0:0.7415:0.0	.	60;190;146;218	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	M	146;218;218;190;60	ENSP00000358136:T146M;ENSP00000391668:T218M;ENSP00000354941:T218M;ENSP00000383948:T190M	ENSP00000354941:T218M	T	-	2	0	MTMR11	148172738	0.999000	0.42202	0.577000	0.28562	0.971000	0.66376	3.273000	0.51623	0.771000	0.33359	0.655000	0.94253	ACG		0.572	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873	
PLXNA2	5362	broad.mit.edu	37	1	208391207	208391207	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:208391207G>T	ENST00000367033.3	-	2	818	c.61C>A	c.(61-63)Ctc>Atc	p.L21I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	21					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCACTGAGAGCAGGACCACA	0.657																																						uc001hgz.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(61-63)Ctc>Atc		Homo sapiens plexin A2 (PLXNA2), mRNA.							36.0	40.0	39.0					1																	208391207		2203	4298	6501	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208391207G>T	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.61C>A	1.37:g.208391207G>T	ENSP00000356000:p.Leu21Ile					PLXNA2_uc001hha.4_Missense_Mutation_p.L75I	p.L21I	NM_025179	NP_079455	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	1	819	-			21					A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.61C>A	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.852504	0.32699	.	.	ENSG00000076356	ENST00000367033	T	0.01025	5.43	5.83	3.64	0.41730	.	0.856146	0.10515	N	0.665696	T	0.00875	0.0029	N	0.19112	0.55	0.27933	N	0.937809	P;B	0.35575	0.51;0.006	B;B	0.31290	0.127;0.01	T	0.51553	-0.8691	10	0.39692	T	0.17	.	9.5543	0.39328	0.1489:0.1231:0.728:0.0	.	75;21	O75051-2;O75051	.;PLXA2_HUMAN	I	21	ENSP00000356000:L21I	ENSP00000356000:L21I	L	-	1	0	PLXNA2	206457830	0.998000	0.40836	0.955000	0.39395	0.835000	0.47333	0.417000	0.21214	1.472000	0.48140	0.650000	0.86243	CTC		0.657	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179	
PTEN	5728	broad.mit.edu	37	10	89720805	89720808	+	Frame_Shift_Del	DEL	CTTT	CTTT	-	rs398123330		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:89720805_89720808delCTTT	ENST00000371953.3	+	8	2313_2316	c.956_959delCTTT	c.(955-960)actttafs	p.TL319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB). {ECO:0000269|PubMed:9090379}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T319fs*1(24)|p.L318fs*2(15)|p.T319fs*6(6)|p.R55fs*1(5)|p.T319fs*24(4)|p.L320*(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L320V(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAAAT	0.328		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		110	Deletion - Frameshift(54)|Whole gene deletion(37)|Insertion - Frameshift(7)|Deletion - In frame(6)|Substitution - Nonsense(3)|Unknown(2)|Substitution - Missense(1)	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1)	central_nervous_system(29)|endometrium(29)|prostate(17)|skin(8)|lung(5)|breast(5)|ovary(5)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM033671|CM992427	PTEN	M		c.(955-960)actttafs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720805_89720808delCTTT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.956_959delCTTT	10.37:g.89720805_89720808delCTTT	ENSP00000361021:p.Thr319fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T319fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	7	1988_1991	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.956_959delCTTT	CCDS31238.1																																																																																				0.328	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
C10orf12	26148	broad.mit.edu	37	10	98743678	98743678	+	Missense_Mutation	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:98743678G>T	ENST00000286067.2	+	1	2638	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	844										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCAAGAAAAGGTCACGGAAA	0.393																																						uc001kmv.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(2530-2532)aGg>aTg		Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.							79.0	74.0	76.0					10																	98743678		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98743678G>T	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.2531G>T	10.37:g.98743678G>T	ENSP00000286067:p.Arg844Met						p.R844M	NM_015652	NP_056467	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	0	2638	+		Colorectal(252;0.172)	844					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.2531G>T	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	13.51	2.258890	0.39896	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.09538	2.97	5.95	5.95	0.96441	.	0.276332	0.33023	N	0.005362	T	0.32882	0.0844	L	0.56769	1.78	0.52501	D	0.999955	D	0.89917	1.0	D	0.91635	0.999	T	0.00118	-1.2033	10	0.48119	T	0.1	-13.5885	20.3927	0.98949	0.0:0.0:1.0:0.0	.	844	Q8N655	CJ012_HUMAN	M	844;678	ENSP00000286067:R844M	ENSP00000286067:R844M	R	+	2	0	C10orf12	98733668	1.000000	0.71417	0.998000	0.56505	0.003000	0.03518	9.450000	0.97607	2.833000	0.97629	0.655000	0.94253	AGG		0.393	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
CTBP2	1488	broad.mit.edu	37	10	126727602	126727602	+	Nonsense_Mutation	SNP	T	T	A	rs76555439		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727602T>A	ENST00000337195.5	-	3	421	c.22A>T	c.(22-24)Aaa>Taa	p.K8*	CTBP2_ENST00000411419.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000494626.2_Nonsense_Mutation_p.K8*|CTBP2_ENST00000531469.1_Nonsense_Mutation_p.K8*|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	8					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTTGACTTTGTGCTTATCC	0.453																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(22-24)Aaa>Taa		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							132.0	121.0	125.0					10																	126727602		2203	4300	6503	SO:0001587	stop_gained	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727602T>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.22A>T	10.37:g.126727602T>A	ENSP00000338615:p.Lys8*					CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8*	p.K8*	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	2	309	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	8					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Nonsense_Mutation	SNP	ENST00000337195.5	37	c.22A>T	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	37	6.129585	0.97310	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208568	.	.	.	X	8	.	ENSP00000338615:K8X	K	-	1	0	CTBP2	126717592	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	AAA		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
CTBP2	1488	broad.mit.edu	37	10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	rs78849795		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R|CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(19-21)cAc>cGc		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							131.0	120.0	124.0					10																	126727604		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126727604T>C	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.20A>G	10.37:g.126727604T>C	ENSP00000338615:p.His7Arg					CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R	p.H7R	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	2	307	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	7					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.20A>G	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	T	13.06	2.123856	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000531469;ENST00000494626;ENST00000411419	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.28	5.28	0.74379	.	.	.	.	.	T	0.75361	0.3839	L	0.51422	1.61	0.26416	N	0.976171	B	0.02656	0.0	B	0.04013	0.001	T	0.60944	-0.7162	9	0.19147	T	0.46	.	13.9484	0.64101	0.0:0.0:0.0:1.0	rs3208567	7	P56545	CTBP2_HUMAN	R	7	ENSP00000338615:H7R;ENSP00000434630:H7R;ENSP00000436285:H7R;ENSP00000410474:H7R	ENSP00000338615:H7R	H	-	2	0	CTBP2	126717594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.606000	0.67641	2.217000	0.71921	0.533000	0.62120	CAC		0.453	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
AMPD3	272	broad.mit.edu	37	11	10514962	10514962	+	Missense_Mutation	SNP	A	A	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:10514962A>T	ENST00000396554.3	+	7	1374	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	AMPD3_ENST00000444303.2_Missense_Mutation_p.T177S	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	336					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCAAGCACACATACCAGAC	0.612																																						uc001min.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25						c.(1033-1035)Aca>Tca		Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.							111.0	112.0	112.0					11																	10514962		2201	4294	6495	SO:0001583	missense	272				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr11:10514962A>T	M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.1033A>T	11.37:g.10514962A>T	ENSP00000379802:p.Thr345Ser					AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	p.T345S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN		all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)	6	1378	+			336					A0AUX0|B7Z2S2|B7Z763|B7Z877	Missense_Mutation	SNP	ENST00000396554.3	37	c.1033A>T	CCDS7802.1	.	.	.	.	.	.	.	.	.	.	A	18.17	3.563643	0.65651	.	.	ENSG00000133805	ENST00000444303;ENST00000396554;ENST00000396553;ENST00000528723;ENST00000529507	D;D;D;D;D	0.95035	-3.59;-3.59;-3.59;-3.59;-3.59	5.44	5.44	0.79542	Adenosine/AMP deaminase (1);	0.047621	0.85682	D	0.000000	D	0.90428	0.7003	N	0.25789	0.76	0.53005	D	0.99996	B;B;B	0.22604	0.072;0.042;0.072	B;B;B	0.25987	0.047;0.065;0.047	D	0.87050	0.2146	10	0.33141	T	0.24	-15.5234	15.4924	0.75619	1.0:0.0:0.0:0.0	.	343;336;345	B7Z763;Q01432;A0AUX0	.;AMPD3_HUMAN;.	S	177;345;336;343;336	ENSP00000396000:T177S;ENSP00000379802:T345S;ENSP00000379801:T336S;ENSP00000436987:T343S;ENSP00000431648:T336S	ENSP00000379801:T336S	T	+	1	0	AMPD3	10471538	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	5.139000	0.64801	2.061000	0.61500	0.459000	0.35465	ACA		0.612	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000385783.2	NM_000480	
VWA5A	4013	broad.mit.edu	37	11	124007318	124007318	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:124007318C>G	ENST00000456829.2	+	14	1813	c.1562C>G	c.(1561-1563)aCa>aGa	p.T521R	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.T521R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	521										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCAAATATACACTCCAGGGC	0.428																																						uc001pzu.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(1561-1563)aCa>aGa		Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.							189.0	172.0	178.0					11																	124007318		2201	4299	6500	SO:0001583	missense	4013							g.chr11:124007318C>G	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1562C>G	11.37:g.124007318C>G	ENSP00000407726:p.Thr521Arg					VWA5A_uc001pzt.3_Missense_Mutation_p.T521R	p.T521R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN			13	1771	+			521					Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.1562C>G	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	C	6.111	0.388804	0.11581	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.04194	3.68;3.68	5.49	-1.16	0.09678	.	0.708725	0.14656	N	0.306292	T	0.05868	0.0153	M	0.64997	1.995	0.09310	N	0.999999	P	0.40050	0.7	B	0.42062	0.374	T	0.36696	-0.9737	10	0.11794	T	0.64	0.1682	7.7831	0.29077	0.6261:0.2685:0.0:0.1054	.	521	O00534	VMA5A_HUMAN	R	521	ENSP00000407726:T521R;ENSP00000376504:T521R	ENSP00000376504:T521R	T	+	2	0	VWA5A	123512528	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.927000	0.03984	-0.546000	0.06216	0.650000	0.86243	ACA		0.428	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
DYRK4	8798	broad.mit.edu	37	12	4721722	4721722	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:4721722C>T	ENST00000540757.2	+	12	1319	c.1159C>T	c.(1159-1161)Ctt>Ttt	p.L387F	DYRK4_ENST00000545342.1_Missense_Mutation_p.L24F|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Missense_Mutation_p.L387F|DYRK4_ENST00000543431.1_Missense_Mutation_p.L387F	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	387	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAACCTTCTCTTCGCATGAC	0.448																																						uc009zeh.1																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(1504-1506)Ctt>Ttt		Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.							71.0	70.0	70.0					12																	4721722		2203	4300	6503	SO:0001583	missense	8798					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr12:4721722C>T	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.1159C>T	12.37:g.4721722C>T	ENSP00000441755:p.Leu387Phe					DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F	p.L502F	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Colorectal(7;0.103)		13	1546	+			387					A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	ENST00000540757.2	37	c.1504C>T	CCDS8530.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.31|18.31	3.594978|3.594978	0.66219|0.66219	.|.	.|.	ENSG00000010219|ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431;ENST00000545342|ENST00000544671	T;T;T;T;T|T	0.74209|0.74842	-0.18;-0.18;-0.18;-0.18;-0.82|-0.88	5.81|5.81	4.92|4.92	0.64577|0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.127255|.	0.52532|.	D|.	0.000061|.	T|T	0.68531|0.68531	0.3011|0.3011	L|L	0.31157|0.31157	0.91|0.91	0.80722|0.80722	D|D	1|1	D;D;P;P|.	0.89917|.	1.0;0.998;0.616;0.667|.	D;D;B;B|.	0.74023|.	0.974;0.982;0.236;0.348|.	T|T	0.65253|0.65253	-0.6213|-0.6213	10|6	0.56958|.	D|.	0.05|.	.|.	11.5912|11.5912	0.50947|0.50947	0.0:0.8553:0.0:0.1447|0.0:0.8553:0.0:0.1447	.|.	502;101;387;387|.	F5H6L9;B4E1A4;Q9NR20-2;Q9NR20|.	.;.;.;DYRK4_HUMAN|.	F|F	502;387;387;387;24|48	ENSP00000437534:L502F;ENSP00000441755:L387F;ENSP00000010132:L387F;ENSP00000439697:L387F;ENSP00000446005:L24F|ENSP00000438769:S48F	ENSP00000010132:L387F|.	L|S	+|+	1|2	0|0	DYRK4|DYRK4	4591983|4591983	0.001000|0.001000	0.12720|0.12720	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.392000|0.392000	0.20801|0.20801	1.462000|1.462000	0.47948|0.47948	0.655000|0.655000	0.94253|0.94253	CTT|TCT		0.448	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398780.2		
ABCC9	10060	broad.mit.edu	37	12	21997717	21997717	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:21997717T>C	ENST00000261201.4	-	25	3228	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	ABCC9_ENST00000261200.4_Missense_Mutation_p.I1077V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.I1041V	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1077	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GGTCCAAGGATTATCTTATTG	0.368																																						uc001rfh.3																			0				NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118						c.(3229-3231)Atc>Gtc		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						172.0	175.0	174.0					12																	21997717		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21997717T>C	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3229A>G	12.37:g.21997717T>C	ENSP00000261201:p.Ile1077Val					ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V	p.I1077V	NM_020297	NP_064693	O60706	ABCC9_HUMAN			24	3249	-			1077			ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3229A>G	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.895996	0.33442	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90444	-2.67;-2.67;-2.67;-2.67	5.44	5.44	0.79542	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.179489	0.47455	D	0.000222	D	0.84179	0.5415	N	0.20685	0.6	0.49483	D	0.999794	B;P	0.34412	0.349;0.453	B;B	0.35510	0.204;0.192	T	0.82810	-0.0273	10	0.28530	T	0.3	-17.6174	15.4994	0.75684	0.0:0.0:0.0:1.0	.	1077;1077	O60706;O60706-2	ABCC9_HUMAN;.	V	1077;704;1077;1041	ENSP00000261200:I1077V;ENSP00000440521:I704V;ENSP00000261201:I1077V;ENSP00000261202:I1041V	ENSP00000261200:I1077V	I	-	1	0	ABCC9	21888984	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.924000	0.63418	2.059000	0.61396	0.528000	0.53228	ATC		0.368	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691	
HOXC11	3227	broad.mit.edu	37	12	54367099	54367099	+	Missense_Mutation	SNP	G	G	A	rs199765463		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:54367099G>A	ENST00000546378.1	+	1	190	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	HOXC11_ENST00000243082.4_Missense_Mutation_p.R25Q|HOTAIR_ENST00000455246.1_RNA|HOTAIR_ENST00000424518.1_RNA			O43248	HXC11_HUMAN	homeobox C11	25					anterior/posterior pattern specification (GO:0009952)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal joint morphogenesis (GO:0060272)|endoderm development (GO:0007492)|metanephros development (GO:0001656)|organ induction (GO:0001759)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			large_intestine(1)|ovary(1)	2						TTCGGCGAGCGAGGGAGCTGC	0.617			T	NUP98	AML								G|||	1	0.000199681	0.0	0.0	5008	,	,		16514	0.001		0.0	False		,,,				2504	0.0					uc001sem.3				Dom	yes		12	12q13.3	3227	T	homeo box C11			L	NUP98		AML		0				large_intestine(1)|ovary(1)	2						c.(73-75)cGa>cAa		Homo sapiens homeobox C11 (HOXC11), mRNA.							86.0	88.0	87.0					12																	54367099		2203	4300	6503	SO:0001583	missense	3227				endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54367099G>A		CCDS8867.1	12q13.13	2011-06-20	2005-12-22		ENSG00000123388	ENSG00000123388		"""Homeoboxes / ANTP class : HOXL subclass"""	5123	protein-coding gene	gene with protein product		605559	"""homeo box C11"""	HOX3H		1973146, 1358459	Standard	NM_014212		Approved		uc001sem.3	O43248	OTTHUMG00000160011	ENST00000546378.1:c.74G>A	12.37:g.54367099G>A	ENSP00000446680:p.Arg25Gln						p.R25Q	NM_014212	NP_055027	O43248	HXC11_HUMAN			0	190	+			25					A8K7D1|Q96DH2	Missense_Mutation	SNP	ENST00000546378.1	37	c.74G>A	CCDS8867.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.60	3.858328	0.71834	.	.	ENSG00000123388	ENST00000546378;ENST00000243082	D;T	0.92099	-2.97;1.46	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	L	0.54323	1.7	0.45747	D	0.998646	D	0.89917	1.0	D	0.76575	0.988	D	0.95012	0.8152	10	0.66056	D	0.02	.	15.8378	0.78811	0.0:0.0:1.0:0.0	.	25	O43248	HXC11_HUMAN	Q	25	ENSP00000446680:R25Q;ENSP00000243082:R25Q	ENSP00000243082:R25Q	R	+	2	0	HOXC11	52653366	1.000000	0.71417	0.999000	0.59377	0.968000	0.65278	9.227000	0.95236	2.330000	0.79161	0.561000	0.74099	CGA		0.617	HOXC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358869.2		
TMTC2	160335	broad.mit.edu	37	12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	rs559369404		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:83289748G>A	ENST00000321196.3	+	3	1513	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_ENST00000548305.1_Missense_Mutation_p.R269H|TMTC2_ENST00000549919.1_Missense_Mutation_p.R263H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	269					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16768	0.0		0.0	False		,,,				2504	0.0					uc001szt.3																			0		p.R269S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						c.(805-807)cGc>cAc		Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.							138.0	126.0	130.0					12																	83289748		2203	4300	6503	SO:0001583	missense	160335					endoplasmic reticulum|integral to membrane	binding	g.chr12:83289748G>A	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.806G>A	12.37:g.83289748G>A	ENSP00000322300:p.Arg269His					TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H	p.R269H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN			2	1238	+			269					B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	37	c.806G>A	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200994	0.79015	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919;ENST00000546590	T;T;T	0.61859	0.07;0.07;0.07	5.84	5.84	0.93424	Domain of unknown function DUF1736 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.87587	0.2488	10	0.87932	D	0	-18.4524	20.139	0.98050	0.0:0.0:1.0:0.0	.	269;24;269	Q8N394;F8VRQ2;F8VSH2	TMTC2_HUMAN;.;.	H	269;269;263;24	ENSP00000322300:R269H;ENSP00000448292:R269H;ENSP00000447609:R263H	ENSP00000322300:R269H	R	+	2	0	TMTC2	81813879	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	9.476000	0.97823	2.764000	0.94973	0.655000	0.94253	CGC		0.527	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
HNF1A	6927	broad.mit.edu	37	12	121437175	121437175	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:121437175C>T	ENST00000257555.6	+	8	1832	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HNF1A_ENST00000544413.1_Missense_Mutation_p.L536F|HNF1A_ENST00000541395.1_Missense_Mutation_p.L536F|RP11-216P16.2_ENST00000606238.1_RNA			P20823	HNF1A_HUMAN	HNF1 homeobox A	536					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGCCAGCCTCACGCCCAC	0.672									Hepatic Adenoma, Familial Clustering of																													uc001tzg.3																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221						c.(1606-1608)Ctc>Ttc		Homo sapiens HNF1 homeobox A (HNF1A), mRNA.							83.0	85.0	84.0					12																	121437175		2203	4300	6503	SO:0001583	missense	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121437175C>T	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.1606C>T	12.37:g.121437175C>T	ENSP00000257555:p.Leu536Phe					HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript	p.L536F	NM_000545	NP_000536	P20823	HNF1A_HUMAN			7	1629	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		536					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Missense_Mutation	SNP	ENST00000257555.6	37	c.1606C>T	CCDS9209.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166449	0.78339	.	.	ENSG00000135100	ENST00000257555;ENST00000535125;ENST00000537424;ENST00000543027;ENST00000541395;ENST00000544413	D;D;D	0.98455	-4.94;-4.94;-4.94	5.52	5.52	0.82312	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.000000	0.49916	D	0.000131	D	0.98441	0.9481	L	0.50333	1.59	0.80722	D	1	D;D	0.69078	0.996;0.997	D;D	0.70935	0.962;0.971	D	0.99734	1.1013	10	0.59425	D	0.04	-26.8716	18.4622	0.90743	0.0:1.0:0.0:0.0	.	536;536	F5H0K0;P20823	.;HNF1A_HUMAN	F	536;428;536;357;536;536	ENSP00000257555:L536F;ENSP00000443112:L536F;ENSP00000438804:L536F	ENSP00000257555:L536F	L	+	1	0	HNF1A	119921558	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.011000	0.49567	2.601000	0.87937	0.650000	0.86243	CTC		0.672	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
DZIP1	22873	broad.mit.edu	37	13	96234520	96234520	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr13:96234520C>T	ENST00000376829.2	-	23	3423	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	DZIP1_ENST00000347108.3_Missense_Mutation_p.V858M|DZIP1_ENST00000361396.2_Missense_Mutation_p.V839M|DZIP1_ENST00000361156.3_Missense_Mutation_p.V839M	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	858					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATCAGTCACAGTTACTAAG	0.408																																						uc001vmk.3																			0				endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38						c.(2572-2574)Gtg>Atg		Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.							243.0	203.0	217.0					13																	96234520		2203	4300	6503	SO:0001583	missense	22873				germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr13:96234520C>T	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.2572G>A	13.37:g.96234520C>T	ENSP00000366025:p.Val858Met					DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript	p.V858M	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.141)		22	3424	-	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		858					Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	ENST00000376829.2	37	c.2572G>A	CCDS9478.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242825	0.58995	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.24	5.24	0.73138	.	0.230381	0.35555	N	0.003135	T	0.19886	0.0478	L	0.49455	1.56	0.46044	D	0.998832	P;P	0.48294	0.901;0.908	B;B	0.40256	0.324;0.173	T	0.01848	-1.1261	10	0.72032	D	0.01	-17.5918	17.3858	0.87415	0.0:1.0:0.0:0.0	.	839;858	Q86YF9-2;Q86YF9	.;DZIP1_HUMAN	M	858;839;839;858	ENSP00000257312:V858M;ENSP00000355018:V839M;ENSP00000355175:V839M;ENSP00000366025:V858M	ENSP00000257312:V858M	V	-	1	0	DZIP1	95032521	0.996000	0.38824	0.987000	0.45799	0.939000	0.58152	2.068000	0.41471	2.605000	0.88082	0.591000	0.81541	GTG		0.408	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
OR4K5	79317	broad.mit.edu	37	14	20388930	20388930	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:20388930G>T	ENST00000315915.4	+	1	190	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	55						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACCAGCCTGCACTCCCCTA	0.408																																						uc010tkw.2																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47						c.(163-165)ctG>ctT		Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.							231.0	243.0	239.0					14																	20388930		2203	4300	6503	SO:0001819	synonymous_variant	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20388930G>T	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.165G>T	14.37:g.20388930G>T							p.L55L	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	0	165	+	all_cancers(95;0.00108)		55					Q6IFA7	Silent	SNP	ENST00000315915.4	37	c.165G>T	CCDS32024.1																																																																																				0.408	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483	
ZFYVE26	23503	broad.mit.edu	37	14	68274502	68274502	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:68274502G>A	ENST00000347230.4	-	5	637	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P167S	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	167					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTGTGCTGGCTGGGGAGAC	0.607																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(499-501)Cca>Tca		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							106.0	109.0	108.0					14																	68274502		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68274502G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.499C>T	14.37:g.68274502G>A	ENSP00000251119:p.Pro167Ser					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S	p.P167S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	4	638	-			167					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.499C>T	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.872002	0.33069	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26223	1.9;1.75	5.98	3.06	0.35304	.	0.342907	0.30911	N	0.008627	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	1	B;B;B	0.20887	0.01;0.006;0.049	B;B;B	0.14023	0.008;0.005;0.01	T	0.15009	-1.0452	10	0.38643	T	0.18	-1.2784	6.592	0.22651	0.0674:0.0966:0.6079:0.2281	.	167;167;167	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	S	167	ENSP00000251119:P167S;ENSP00000450603:P167S	ENSP00000251119:P167S	P	-	1	0	ZFYVE26	67344255	0.077000	0.21312	0.694000	0.30210	0.827000	0.46813	1.232000	0.32636	0.853000	0.35312	0.591000	0.81541	CCA		0.607	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
PSEN1	5663	broad.mit.edu	37	14	73678621	73678621	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:73678621G>C	ENST00000324501.5	+	10	1372	c.1100G>C	c.(1099-1101)aGt>aCt	p.S367T	PSEN1_ENST00000406768.1_Missense_Mutation_p.S275T|PSEN1_ENST00000557511.1_Intron|PSEN1_ENST00000394164.1_Missense_Mutation_p.S363T|PSEN1_ENST00000357710.4_Missense_Mutation_p.S363T|PSEN1_ENST00000261970.3_Intron|PSEN1_ENST00000344094.3_3'UTR	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	367	Required for interaction with CTNNB1.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCAGCAGTATCCTCGCT	0.493																																						uc001xnr.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18						c.(1099-1101)aGt>aCt		Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.							97.0	84.0	88.0					14																	73678621		2203	4300	6503	SO:0001583	missense	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73678621G>C	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.1100G>C	14.37:g.73678621G>C	ENSP00000326366:p.Ser367Thr					PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	p.S367T	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	9	1384	+			367			Required for interaction with CTNNB1.		B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	c.1100G>C	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908782	0.02434	.	.	ENSG00000080815	ENST00000324501;ENST00000357710;ENST00000394164;ENST00000406768	D;D;D;D	0.99532	-6.1;-6.1;-6.1;-6.1	6.07	-1.43	0.08884	.	0.457213	0.29053	N	0.013287	D	0.96614	0.8895	N	0.20574	0.59	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.17979	0.003;0.02	D	0.93950	0.7231	10	0.11182	T	0.66	-0.2661	6.4559	0.21930	0.5203:0.249:0.2307:0.0	.	363;367	P49768-2;P49768	.;PSN1_HUMAN	T	367;363;363;275	ENSP00000326366:S367T;ENSP00000350342:S363T;ENSP00000377719:S363T;ENSP00000385948:S275T	ENSP00000326366:S367T	S	+	2	0	PSEN1	72748374	0.474000	0.25886	0.229000	0.23960	0.006000	0.05464	0.546000	0.23284	-0.239000	0.09710	-0.136000	0.14681	AGT		0.493	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		
OR4N3P	390539	broad.mit.edu	37	15	22414178	22414178	+	IGR	SNP	A	A	G	rs535385020		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:22414178A>G								RP11-69H14.6 (30370 upstream) : RP11-2F9.4 (19711 downstream)																							CCATGTCCACATGCACCACCC	0.488													a|||	1	0.000199681	0.0	0.0	5008	,	,		34462	0.001		0.0	False		,,,				2504	0.0					uc001yuf.3																			0											c.(475-477)acA>acG		Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																																				SO:0001628	intergenic_variant	390539							g.chr15:22414178A>G																													15.37:g.22414178A>G						abParts_uc001yuj.2_Intron	p.T159T							0	717	+									Silent	SNP		37	c.477A>G																																																																																				0	0.488								
NOX5	79400	broad.mit.edu	37	15	69328195	69328195	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:69328195G>A	ENST00000388866.3	+	7	1148	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	NOX5_ENST00000260364.5_Silent_p.P351P|NOX5_ENST00000455873.3_Silent_p.P334P|NOX5_ENST00000448182.3_Silent_p.P323P|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_Silent_p.P341P	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	369	Ferric oxidoreductase.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.P351P(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGGCCTCCCCGACAGGTGTCG	0.632																																						uc002ars.2																			1	Substitution - coding silent(1)	p.P351P(1)|p.S369S(1)	breast(1)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1105-1107)ccG>ccA		Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.							128.0	107.0	114.0					15																	69328195		2200	4298	6498	SO:0001819	synonymous_variant	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328195G>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1107G>A	15.37:g.69328195G>A						MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript	p.P369P	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN			6	1148	+			369			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Silent	SNP	ENST00000388866.3	37	c.1107G>A	CCDS32276.2																																																																																				0.632	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505	
OTOA	146183	broad.mit.edu	37	16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	rs572283930		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:21726417G>A	ENST00000286149.4	+	13	1475	c.1474G>A	c.(1474-1476)Gtc>Atc	p.V492I	OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000388958.3_Missense_Mutation_p.V478I			Q7RTW8	OTOAN_HUMAN	otoancorin	492					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22005	0.0		0.0	False		,,,				2504	0.001					uc002djh.3																			1	Substitution - Missense(1)	p.V478I(2)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1432-1434)Gtc>Atc		Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.							232.0	210.0	217.0					16																	21726417		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726417G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1474G>A	16.37:g.21726417G>A	ENSP00000286149:p.Val492Ile					LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I	p.V478I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	12	1433	+			492					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975420	0.02215	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.66	-11.0	0.00169	.	1.733600	0.03195	N	0.173902	T	0.41373	0.1156	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.44651	-0.9314	10	0.21540	T	0.41	0.534	11.4065	0.49900	0.5645:0.3473:0.0881:0.0	.	492;399;154;478	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	478;492;399;154	ENSP00000373610:V478I;ENSP00000286149:V492I;ENSP00000373608:V399I;ENSP00000373609:V154I	ENSP00000286149:V492I	V	+	1	0	OTOA	21633918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.881000	0.01626	-1.967000	0.01008	-1.822000	0.00598	GTC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
HERPUD1	9709	broad.mit.edu	37	16	56970643	56970643	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:56970643G>C	ENST00000439977.2	+	4	542	c.345G>C	c.(343-345)caG>caC	p.Q115H	HERPUD1_ENST00000344114.4_Missense_Mutation_p.Q114H|HERPUD1_ENST00000570273.1_3'UTR|HERPUD1_ENST00000379792.2_Missense_Mutation_p.Q90H|HERPUD1_ENST00000300302.5_Missense_Mutation_p.Q114H	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	115					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ATCGGGGACAGTATCCTGAGG	0.448			T	ERG	prostate																																	uc002eke.1				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(343-345)caG>caC		Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.							134.0	124.0	127.0					16																	56970643		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56970643G>C	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.345G>C	16.37:g.56970643G>C	ENSP00000409555:p.Gln115His					HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	p.Q115H	NM_014685	NP_055500	Q15011	HERP1_HUMAN			3	754	+			115					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.345G>C	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007590	0.75046	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302;ENST00000344114	T;T	0.46451	1.47;0.87	6.16	3.99	0.46301	.	0.536026	0.22078	N	0.064925	T	0.47875	0.1469	L	0.46157	1.445	0.47511	D	0.999442	D;D;D;D;D;D	0.64830	0.991;0.994;0.985;0.958;0.975;0.958	P;P;P;P;P;P	0.62560	0.687;0.904;0.753;0.558;0.8;0.535	T	0.36817	-0.9732	10	0.45353	T	0.12	-21.6	5.8207	0.18526	0.0966:0.0:0.7096:0.1938	.	115;114;115;90;114;115	B4E3N8;Q15011-3;A4UAE9;E9PGD1;Q15011-2;Q15011	.;.;.;.;.;HERP1_HUMAN	H	114;90;115;114	ENSP00000369118:Q90H;ENSP00000340931:Q114H	ENSP00000300302:Q115H	Q	+	3	2	HERPUD1	55528144	0.360000	0.24964	0.995000	0.50966	0.979000	0.70002	0.858000	0.27845	2.937000	0.99478	0.650000	0.86243	CAG		0.448	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5		
ANKFY1	51479	broad.mit.edu	37	17	4084568	4084568	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:4084568C>T	ENST00000341657.4	-	16	2256	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A783T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A742T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	741	Interaction with RHOD and RAB5A. {ECO:0000269|PubMed:24102721}.				endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGAAAGCAGGCGGTGGGCTCG	0.522																																						uc002fxn.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(2347-2349)Gcc>Acc		Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.							55.0	56.0	55.0					17																	4084568		1920	4143	6063	SO:0001583	missense	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4084568C>T	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2221G>A	17.37:g.4084568C>T	ENSP00000343362:p.Ala741Thr					ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T	p.A783T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			15	2464	-			741					A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	37	c.2347G>A		.	.	.	.	.	.	.	.	.	.	C	11.97	1.797231	0.31777	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.09	0.339	0.15979	Ankyrin repeat-containing domain (4);	0.175472	0.50627	N	0.000120	T	0.36963	0.0986	L	0.31804	0.96	0.80722	D	1	B;B;B;B	0.18013	0.014;0.009;0.007;0.025	B;B;B;B	0.17433	0.006;0.009;0.011;0.018	T	0.04991	-1.0913	9	0.26408	T	0.33	-2.0987	5.3445	0.16002	0.1367:0.6147:0.0:0.2486	.	683;741;742;783	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	T	742;683	.	ENSP00000343362:A742T	A	-	1	0	ANKFY1	4031317	0.979000	0.34478	0.235000	0.24058	0.135000	0.20990	2.537000	0.45702	0.113000	0.18004	0.462000	0.41574	GCC		0.522	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
USP6	9098	broad.mit.edu	37	17	5037255	5037255	+	Missense_Mutation	SNP	G	G	A	rs138849740	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:5037255G>A	ENST00000574788.1	+	15	2688	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP6_ENST00000250066.6_Missense_Mutation_p.R153Q|USP6_ENST00000332776.4_Missense_Mutation_p.R153Q|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	153	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACGACTCTCCGGAACCATGTC	0.562			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								G|||	3	0.000599042	0.0023	0.0	5008	,	,		18701	0.0		0.0	False		,,,				2504	0.0					uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(457-459)cGg>cAg		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.		G	GLN/ARG	5,4401	9.9+/-24.2	0,5,2198	190.0	148.0	162.0		458	0.9	0.1	17	dbSNP_134	162	0,8600		0,0,4300	no	missense	USP6	NM_004505.2	43	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	153/1407	5037255	5,13001	2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037255G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.458G>A	17.37:g.5037255G>A	ENSP00000460380:p.Arg153Gln					USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	p.R153Q	NM_004505	NP_004496	P35125	UBP6_HUMAN			14	2688	+			153			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.458G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	14.93	2.682546	0.47991	0.001135	0.0	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.04706	3.57;3.57	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.045961	0.85682	D	0.000000	T	0.11707	0.0285	L	0.58101	1.795	0.80722	D	1	D;D	0.76494	0.999;0.991	D;B	0.65233	0.933;0.38	T	0.02450	-1.1157	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	153;153	B9A6N0;P35125	.;UBP6_HUMAN	Q	153	ENSP00000328010:R153Q;ENSP00000250066:R153Q	ENSP00000250066:R153Q	R	+	2	0	USP6	4977979	1.000000	0.71417	0.055000	0.19348	0.055000	0.15305	5.790000	0.69038	0.132000	0.18615	0.134000	0.15878	CGG		0.562	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
MYH13	8735	broad.mit.edu	37	17	10250061	10250061	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:10250061C>T	ENST00000418404.3	-	12	1362	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	MYH13_ENST00000252172.4_Missense_Mutation_p.G400D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	400	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCACAGGCCCTTCAGCAT	0.458																																						uc002gmk.1																			0				breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						c.(1198-1200)gGc>gAc		Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.							106.0	98.0	101.0					17																	10250061		1969	4161	6130	SO:0001583	missense	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10250061C>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1199G>A	17.37:g.10250061C>T	ENSP00000404570:p.Gly400Asp					MYH13_uc010vvf.1_Missense_Mutation_p.G75D	p.G400D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			12	1289	-			400			Myosin head-like.		O95252|Q9P0U8	Missense_Mutation	SNP	ENST00000418404.3	37	c.1199G>A	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189742	0.57909	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	D	0.87179	-2.22	4.65	3.6	0.41247	Myosin head, motor domain (2);	.	.	.	.	D	0.91476	0.7309	M	0.92077	3.27	0.37743	D	0.925709	B	0.22276	0.067	B	0.36766	0.232	D	0.92852	0.6298	9	0.54805	T	0.06	.	14.0435	0.64690	0.0:0.7054:0.2946:0.0	.	400	Q9UKX3	MYH13_HUMAN	D	400;75	ENSP00000252172:G400D	ENSP00000252172:G400D	G	-	2	0	MYH13	10190786	0.037000	0.19845	1.000000	0.80357	0.881000	0.50899	0.343000	0.19944	2.294000	0.77228	0.561000	0.74099	GGC		0.458	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802	
KRTAP4-9	100132386	broad.mit.edu	37	17	39261809	39261809	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:39261809T>C	ENST00000391415.1	+	1	226	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	57	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GTGCTGCCAGTCTGTGTGCTG	0.652																																						uc010wfp.2																			1	Substitution - Missense(1)	p.S57P(2)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(169-171)Tct>Cct		Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.							19.0	26.0	24.0					17																	39261809		687	1591	2278	SO:0001583	missense	100132386					keratin filament		g.chr17:39261809T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.169T>C	17.37:g.39261809T>C	ENSP00000375234:p.Ser57Pro						p.S57P	NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN			0	169	+			57			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Missense_Mutation	SNP	ENST00000391415.1	37	c.169T>C	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	1.659	-0.511925	0.04200	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32988	1.43	2.45	-3.41	0.04839	.	0.891250	0.09214	N	0.832840	T	0.16811	0.0404	L	0.35723	1.085	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.40979	-0.9534	10	0.02654	T	1	.	7.0778	0.25213	0.0:0.3127:0.0:0.6873	.	57	Q9BYQ8	KRA49_HUMAN	P	57	ENSP00000375234:S57P	ENSP00000334461:S57P	S	+	1	0	KRTAP4-9	36515335	0.001000	0.12720	0.000000	0.03702	0.552000	0.35366	-0.568000	0.05909	-0.744000	0.04778	0.254000	0.18369	TCT		0.652	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041	
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)ggtfs	p.G472fs	CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368																																						uc002ile.4																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1432-1434)ggtfs		Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.							83.0	89.0	87.0					17																	45219355		2201	4298	6499	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219355delC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1415delG	17.37:g.45219355delC	ENSP00000066544:p.Gly472fs					CDC27_uc002ild.4_Frame_Shift_Del_p.G472fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.G471fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.G411fs|CDC27_uc010wkq.1_Intron	p.G478fs	NM_001114091	NP_001107563	P30260	CDC27_HUMAN			11	1560	-			472					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1433delG	CCDS11509.1																																																																																				0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
KIF2B	84643	broad.mit.edu	37	17	51900577	51900577	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900577G>T	ENST00000268919.4	+	1	339	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	61					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557																																						uc002iua.2																			0		p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(181-183)gtG>gtT		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							167.0	143.0	151.0					17																	51900577		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900577G>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.183G>T	17.37:g.51900577G>T							p.V61V	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	339	+			61					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.183G>T	CCDS32685.1																																																																																				0.557	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
KIF2B	84643	broad.mit.edu	37	17	51900579	51900579	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900579A>G	ENST00000268919.4	+	1	341	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	62					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGGGTGGAGAAAGCAGTC	0.552																																						uc002iua.2																			0				NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						c.(184-186)gAg>gGg		Homo sapiens kinesin family member 2B (KIF2B), mRNA.							167.0	144.0	152.0					17																	51900579		2203	4300	6503	SO:0001583	missense	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51900579A>G	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.185A>G	17.37:g.51900579A>G	ENSP00000268919:p.Glu62Gly						p.E62G	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			0	341	+			62					Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	c.185A>G	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.734803	0.69189	.	.	ENSG00000141200	ENST00000268919	D	0.84070	-1.8	4.96	4.96	0.65561	.	0.000000	0.47455	D	0.000230	D	0.89818	0.6825	M	0.74546	2.27	0.39695	D	0.971101	D	0.89917	1.0	D	0.80764	0.994	D	0.91401	0.5143	10	0.87932	D	0	.	12.3924	0.55366	1.0:0.0:0.0:0.0	.	62	Q8N4N8	KIF2B_HUMAN	G	62	ENSP00000268919:E62G	ENSP00000268919:E62G	E	+	2	0	KIF2B	49255578	1.000000	0.71417	0.996000	0.52242	0.840000	0.47671	5.802000	0.69122	2.191000	0.70037	0.533000	0.62120	GAG		0.552	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
GRIN2C	2905	broad.mit.edu	37	17	72845978	72845978	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:72845978G>A	ENST00000293190.5	-	7	1732	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	GRIN2C_ENST00000578159.1_5'Flank|GRIN2C_ENST00000347612.4_Missense_Mutation_p.T529M	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	529					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACTGATGCCCGTCTCCACAAA	0.627																																						uc002jlt.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33						c.(1585-1587)aCg>aTg		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						106.0	96.0	99.0					17																	72845978		2203	4300	6503	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72845978G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.1586C>T	17.37:g.72845978G>A	ENSP00000293190:p.Thr529Met					GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	p.T529M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			6	1742	-	all_lung(278;0.172)|Lung NSC(278;0.207)		529					B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.1586C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754016	0.49362	.	.	ENSG00000161509	ENST00000293190;ENST00000347612	T	0.30981	1.51	4.19	4.19	0.49359	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.72337	-0.4324	10	0.72032	D	0.01	.	17.0587	0.86541	0.0:0.0:1.0:0.0	.	563;529	Q8IW23;Q14957	.;NMDE3_HUMAN	M	529;563	ENSP00000293190:T529M	ENSP00000293190:T529M	T	-	2	0	GRIN2C	70357573	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.468000	0.97676	2.313000	0.78055	0.491000	0.48974	ACG		0.627	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1		
MC5R	4161	broad.mit.edu	37	18	13826125	13826125	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:13826125A>G	ENST00000324750.3	+	1	583	c.361A>G	c.(361-363)Atg>Gtg	p.M121V	AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	121					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTTGACTCCATGATCTGCAT	0.517																																						uc010xaf.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						c.(361-363)Atg>Gtg		Homo sapiens melanocortin 5 receptor (MC5R), mRNA.							148.0	122.0	131.0					18																	13826125		2203	4300	6503	SO:0001583	missense	4161				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	g.chr18:13826125A>G	AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720	ENST00000324750.3:c.361A>G	18.37:g.13826125A>G	ENSP00000318077:p.Met121Val						p.M121V	NM_005913	NP_005904	P33032	MC5R_HUMAN			0	583	+			121					B0YJ34|Q502V1	Missense_Mutation	SNP	ENST00000324750.3	37	c.361A>G	CCDS11868.1	.	.	.	.	.	.	.	.	.	.	A	13.64	2.298503	0.40694	.	.	ENSG00000176136	ENST00000324750	T	0.18502	2.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.037941	0.85682	D	0.000000	T	0.21590	0.0520	L	0.58302	1.8	0.54753	D	0.999984	P	0.40000	0.698	B	0.43990	0.438	T	0.02519	-1.1147	10	0.23302	T	0.38	.	11.2657	0.49110	0.8476:0.1524:0.0:0.0	.	121	P33032	MC5R_HUMAN	V	121	ENSP00000318077:M121V	ENSP00000318077:M121V	M	+	1	0	MC5R	13816125	0.994000	0.37717	1.000000	0.80357	0.928000	0.56348	2.614000	0.46359	1.873000	0.54277	0.374000	0.22700	ATG		0.517	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254638.1	NM_005913	
CTIF	9811	broad.mit.edu	37	18	46284644	46284644	+	Silent	SNP	A	A	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:46284644A>C	ENST00000256413.3	+	8	1234	c.939A>C	c.(937-939)ccA>ccC	p.P313P	CTIF_ENST00000382998.4_Silent_p.P313P	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	313					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)	p.P313P(1)|p.P265P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCTGCCCCCACAGCAGTCAG	0.632																																						uc002ldd.3																			2	Substitution - coding silent(2)	p.P313P(2)|p.P265P(1)	kidney(2)	breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						c.(937-939)ccA>ccC		Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.							49.0	61.0	57.0					18																	46284644		2203	4300	6503	SO:0001819	synonymous_variant	9811				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding	g.chr18:46284644A>C	AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.939A>C	18.37:g.46284644A>C						CTIF_uc002ldc.3_Silent_p.P313P|CTIF_uc002lde.4_5'Flank	p.P313P	NM_001142397	NP_001135869	O43310	CTIF_HUMAN			8	1298	+			313					B3KTR8|Q8IVD5	Silent	SNP	ENST00000256413.3	37	c.939A>C	CCDS11935.1																																																																																				0.632	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255907.1	NM_014772	
MAN2B1	4125	broad.mit.edu	37	19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:12769127C>T	ENST00000456935.2	-	9	1181	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A380T|MAN2B1_ENST00000495617.1_Intron	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	381					cellular protein modification process (GO:0006464)|mannose metabolic process (GO:0006013)|protein deglycosylation (GO:0006517)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617																																						uc002mub.2																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						c.(1141-1143)Gcg>Acg		Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.							64.0	68.0	67.0					19																	12769127		2203	4300	6503	SO:0001583	missense	4125				protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding	g.chr19:12769127C>T		CCDS32919.1, CCDS54224.1	19p13.2	2013-09-20			ENSG00000104774	ENSG00000104774	3.2.1.24		6826	protein-coding gene	gene with protein product		609458		MANB			Standard	NM_000528		Approved	LAMAN	uc002mub.2	O00754	OTTHUMG00000156397	ENST00000456935.2:c.1141G>A	19.37:g.12769127C>T	ENSP00000395473:p.Ala381Thr					MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	p.A381T	NM_000528	NP_000519	O00754	MA2B1_HUMAN			8	1217	-			381					G5E928|O15330|Q16680|Q93094|Q9BW13	Missense_Mutation	SNP	ENST00000456935.2	37	c.1141G>A	CCDS32919.1	.	.	.	.	.	.	.	.	.	.	C	34	5.398417	0.96030	.	.	ENSG00000104774	ENST00000456935;ENST00000536796;ENST00000221363	T;T	0.80738	-1.41;-1.41	5.33	5.33	0.75918	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);Glycoside hydrolase, family 38, core (2);	0.000000	0.42294	D	0.000730	D	0.90222	0.6943	M	0.83312	2.635	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.81914	0.995;0.877	D	0.91550	0.5256	10	0.87932	D	0	-8.818	16.5676	0.84602	0.0:1.0:0.0:0.0	.	380;381	G5E928;O00754	.;MA2B1_HUMAN	T	381;320;380	ENSP00000395473:A381T;ENSP00000221363:A380T	ENSP00000221363:A380T	A	-	1	0	MAN2B1	12630127	1.000000	0.71417	0.786000	0.31890	0.817000	0.46193	5.660000	0.68018	2.503000	0.84419	0.460000	0.39030	GCG		0.617	MAN2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344062.1		
NLRP5	126206	broad.mit.edu	37	19	56565093	56565093	+	Missense_Mutation	SNP	C	C	T	rs201338049	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:56565093C>T	ENST00000390649.3	+	13	3218	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1073					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGATCTCACGGACAATGCC	0.587													C|||	8	0.00159744	0.0	0.0	5008	,	,		18678	0.001		0.0	False		,,,				2504	0.0072					uc002qmj.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25						c.(3217-3219)aCg>aTg		Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.		C	MET/THR	0,4212		0,0,2106	90.0	92.0	91.0		3218	-1.6	0.0	19		91	2,8460		0,2,4229	yes	missense	NLRP5	NM_153447.4	81	0,2,6335	TT,TC,CC		0.0236,0.0,0.0158	probably-damaging	1073/1201	56565093	2,12672	2106	4231	6337	SO:0001583	missense	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56565093C>T	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.3218C>T	19.37:g.56565093C>T	ENSP00000375063:p.Thr1073Met					NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M	p.T1073M	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	12	3218	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	1073					A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	c.3218C>T	CCDS12938.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	13.31	2.198591	0.38806	0.0	2.36E-4	ENSG00000171487	ENST00000390649	T	0.14144	2.53	3.69	-1.57	0.08506	.	0.498628	0.15065	N	0.282551	T	0.17874	0.0429	L	0.37697	1.125	0.09310	N	1	D	0.67145	0.996	P	0.60609	0.877	T	0.10268	-1.0637	10	0.49607	T	0.09	.	7.0769	0.25209	0.0:0.3675:0.5243:0.1083	.	1073	P59047	NALP5_HUMAN	M	1073	ENSP00000375063:T1073M	ENSP00000375063:T1073M	T	+	2	0	NLRP5	61256905	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-0.132000	0.11557	0.655000	0.94253	ACG		0.587	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						uc002qqo.2																			10	Substitution - Missense(10)	p.D404E(20)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.D404E	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1484	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
DRC1	92749	broad.mit.edu	37	2	26647184	26647184	+	Silent	SNP	C	C	T	rs200560247		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:26647184C>T	ENST00000288710.2	+	4	476	c.402C>T	c.(400-402)ttC>ttT	p.F134F		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	134					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGGACAAATTCGATGAAATCA	0.498																																						uc002rhg.2																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|stomach(1)	35						c.(400-402)ttC>ttT		Homo sapiens coiled-coil domain containing 164 (CCDC164), mRNA.		C		2,4404	4.2+/-10.8	0,2,2201	172.0	169.0	170.0		402	-3.0	0.8	2		170	0,8600		0,0,4300	no	coding-synonymous	CCDC164	NM_145038.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		134/741	26647184	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	92749							g.chr2:26647184C>T	AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.402C>T	2.37:g.26647184C>T						CCDC164_uc010eym.1_Intron	p.F134F	NM_145038	NP_659475	Q96MC2	CC164_HUMAN			3	476	+			134					A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	ENST00000288710.2	37	c.402C>T	CCDS1723.1																																																																																				0.498	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246862.1	NM_145038	
SRBD1	55133	broad.mit.edu	37	2	45801787	45801787	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:45801787G>A	ENST00000263736.4	-	8	1210	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	383					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAGTCAAGCGTGTCTTTGTC	0.393																																						uc002rus.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(1147-1149)aCg>aTg		Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.							135.0	129.0	131.0					2																	45801787		2203	4300	6503	SO:0001583	missense	55133				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding	g.chr2:45801787G>A	AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1148C>T	2.37:g.45801787G>A	ENSP00000263736:p.Thr383Met						p.T383M	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)		7	1224	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	383					Q53T56|Q96TA4|Q9NW11	Missense_Mutation	SNP	ENST00000263736.4	37	c.1148C>T	CCDS1823.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280386	0.59758	.	.	ENSG00000068784	ENST00000263736	T	0.43294	0.95	5.06	5.06	0.68205	Tex-like protein, N-terminal (1);Tex-like domain (1);	0.060883	0.64402	D	0.000004	T	0.58949	0.2158	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.55224	-0.8174	10	0.34782	T	0.22	.	18.0051	0.89207	0.0:0.0:1.0:0.0	.	383	Q8N5C6	SRBD1_HUMAN	M	383	ENSP00000263736:T383M	ENSP00000263736:T383M	T	-	2	0	SRBD1	45655291	1.000000	0.71417	0.928000	0.36995	0.564000	0.35744	4.809000	0.62591	2.358000	0.79984	0.561000	0.74099	ACG		0.393	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250747.3	NM_018079	
GALNT5	11227	broad.mit.edu	37	2	158165186	158165186	+	Silent	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:158165186A>G	ENST00000259056.4	+	9	3113	c.2628A>G	c.(2626-2628)agA>agG	p.R876R		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	876	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGATAACAGAAACAAAGGGC	0.388																																						uc002tzg.3																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2626-2628)agA>agG		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.							116.0	115.0	115.0					2																	158165186		2203	4300	6503	SO:0001819	synonymous_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158165186A>G	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2628A>G	2.37:g.158165186A>G						GALNT5_uc010zci.2_Non-coding_Transcript	p.R876R	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN			8	2883	+			876			Ricin B-type lectin.		A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	c.2628A>G	CCDS2203.1																																																																																				0.388	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
LY75	4065	broad.mit.edu	37	2	160755282	160755282	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:160755282C>A	ENST00000263636.4	-	2	410	c.383G>T	c.(382-384)gGa>gTa	p.G128V	LY75_ENST00000553424.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.G128V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.G128V|LY75_ENST00000554112.1_Missense_Mutation_p.G128V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	128	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.G128V(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGTGCCATGTCCATCCTTCAG	0.522																																						uc002ubb.4																			1	Substitution - Missense(1)	p.G128V(1)	lung(1)								c.(382-384)gGa>gTa		Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.							87.0	80.0	82.0					2																	160755282		2203	4300	6503	SO:0001583	missense	4065				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding	g.chr2:160755282C>A	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.383G>T	2.37:g.160755282C>A	ENSP00000263636:p.Gly128Val					LY75-CD302_uc010fos.3_Missense_Mutation_p.G128V|LY75-CD302_uc002ubc.4_Missense_Mutation_p.G128V|LY75-CD302_uc010fot.2_Missense_Mutation_p.G128V	p.G128V	NM_001198759	NP_001185688	O60449	LY75_HUMAN			1	457	-			128			Ricin B-type lectin.		O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	37	c.383G>T	CCDS2211.1	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626230	0.28978	.	.	ENSG00000054219;ENSG00000054219;ENSG00000054219;ENSG00000248672;ENSG00000248672	ENST00000554112;ENST00000553424;ENST00000263636;ENST00000504764;ENST00000505052	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.92	5.04	0.67666	Ricin B-related lectin (1);Ricin B lectin (1);	0.237595	0.21547	N	0.072781	T	0.62877	0.2464	M	0.81239	2.535	0.30796	N	0.740427	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.993;0.979;1.0	T	0.67681	-0.5608	10	0.72032	D	0.01	-10.8364	7.8344	0.29362	0.1249:0.6893:0.1203:0.0655	.	128;128;128	O60449-3;O60449;O60449-2	.;LY75_HUMAN;.	V	128	ENSP00000451511:G128V;ENSP00000451446:G128V;ENSP00000263636:G128V;ENSP00000423463:G128V;ENSP00000421035:G128V	ENSP00000423463:G128V	G	-	2	0	LY75;LY75-CD302	160463528	0.039000	0.19947	0.312000	0.25196	0.000000	0.00434	1.466000	0.35310	1.510000	0.48803	-0.169000	0.13324	GGA		0.522	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
VIL1	7429	broad.mit.edu	37	2	219294359	219294359	+	Silent	SNP	C	C	T	rs148795202		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:219294359C>T	ENST00000248444.5	+	8	898	c.810C>T	c.(808-810)gtC>gtT	p.V270V	VIL1_ENST00000440053.1_Silent_p.V270V|VIL1_ENST00000392114.2_5'UTR	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	270	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGGAAGTCGCCACACGGC	0.622																																						uc002vib.3																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(808-810)gtC>gtT		Homo sapiens villin 1 (VIL1), mRNA.		C		1,4405	2.1+/-5.4	0,1,2202	79.0	79.0	79.0		810	-5.0	0.1	2	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	VIL1	NM_007127.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		270/828	219294359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219294359C>T	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.810C>T	2.37:g.219294359C>T						VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	p.V270V	NM_007127	NP_009058	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	832	+		Renal(207;0.0474)	270			Core.		B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	c.810C>T	CCDS2417.1																																																																																				0.622	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127	
SPEG	10290	broad.mit.edu	37	2	220344732	220344732	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:220344732C>T	ENST00000312358.7	+	25	5344	c.5212C>T	c.(5212-5214)Cgg>Tgg	p.R1738W	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1738	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGGTGCGGATCTGTGA	0.572																																						uc010fwg.3																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(5212-5214)Cgg>Tgg		Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.							70.0	79.0	76.0					2																	220344732		2164	4265	6429	SO:0001583	missense	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220344732C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5212C>T	2.37:g.220344732C>T	ENSP00000311684:p.Arg1738Trp						p.R1738W	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	24	5212	+		Renal(207;0.0183)	1738			Protein kinase 1.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	c.5212C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	c	15.40	2.821889	0.50633	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.40756	1.02	4.55	3.62	0.41486	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41605	D	0.000844	T	0.63058	0.2479	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.67738	-0.5593	10	0.87932	D	0	.	12.0785	0.53657	0.3724:0.6276:0.0:0.0	.	1738	Q15772	SPEG_HUMAN	W	1738	ENSP00000311684:R1738W	ENSP00000265327:R1738W	R	+	1	2	SPEG	220052976	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.773000	0.55333	1.172000	0.42781	0.604000	0.83254	CGG		0.572	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
D2HGDH	728294	broad.mit.edu	37	2	242681957	242681957	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:242681957T>C	ENST00000321264.4	+	4	667	c.458T>C	c.(457-459)aTg>aCg	p.M153T	D2HGDH_ENST00000342518.6_Missense_Mutation_p.M153T|D2HGDH_ENST00000403782.1_Missense_Mutation_p.M19T|D2HGDH_ENST00000537090.1_Missense_Mutation_p.M153T	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	153	FAD-binding PCMH-type. {ECO:0000255|PROSITE-ProRule:PRU00718}.				2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCCGCATGAACCGGGTC	0.642																																						uc002wce.1																			0				breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16						c.(457-459)aTg>aCg		Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.							103.0	82.0	89.0					2																	242681957		2203	4296	6499	SO:0001583	missense	728294				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding	g.chr2:242681957T>C	AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.458T>C	2.37:g.242681957T>C	ENSP00000315351:p.Met153Thr					D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript	p.M153T	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)	3	631	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	153			FAD-binding PCMH-type.		B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	ENST00000321264.4	37	c.458T>C	CCDS33426.1	.	.	.	.	.	.	.	.	.	.	T	17.24	3.339637	0.60963	.	.	ENSG00000180902	ENST00000537090;ENST00000321264;ENST00000403782;ENST00000342518;ENST00000437164;ENST00000454048	D;D;D;D;D;D	0.97016	-4.21;-4.21;-4.21;-4.21;-4.21;-4.21	5.06	5.06	0.68205	FAD-binding, type 2, subdomain 1 (1);FAD-binding, type 2 (2);FAD linked oxidase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99074	0.9682	H	0.99609	4.655	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.98727	1.0711	10	0.87932	D	0	.	14.8133	0.70010	0.0:0.0:0.0:1.0	.	153	Q8N465	D2HDH_HUMAN	T	153;153;19;153;37;23	ENSP00000442796:M153T;ENSP00000315351:M153T;ENSP00000384723:M19T;ENSP00000339536:M153T;ENSP00000412511:M37T;ENSP00000404596:M23T	ENSP00000315351:M153T	M	+	2	0	D2HGDH	242330630	1.000000	0.71417	1.000000	0.80357	0.376000	0.30014	7.367000	0.79558	1.913000	0.55393	0.454000	0.30748	ATG		0.642	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322794.2	NM_152783	
TNNC2	7125	broad.mit.edu	37	20	44453472	44453472	+	Splice_Site	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr20:44453472G>A	ENST00000372555.3	-	2	97	c.5C>T	c.(4-6)aCg>aTg	p.T2M	TNNC2_ENST00000372557.1_De_novo_Start_InFrame	NM_003279.2	NP_003270.1	P02585	TNNC2_HUMAN	troponin C type 2 (fast)	2				TD -> DT (in Ref. 9; AA sequence). {ECO:0000305}.	muscle filament sliding (GO:0030049)|regulation of muscle contraction (GO:0006937)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)			Felodipine(DB01023)	CTGCTGGTCCGTCTGCAGGAG	0.612																																						uc002xpr.3																			0				endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.e2-1		Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.							108.0	112.0	111.0					20																	44453472		2203	4300	6503	SO:0001630	splice_region_variant	7125				muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding	g.chr20:44453472G>A		CCDS13375.1	20q12-q13.11	2013-01-10	2005-09-12		ENSG00000101470	ENSG00000101470		"""EF-hand domain containing"""	11944	protein-coding gene	gene with protein product		191039	"""troponin C2, fast"""			2373703	Standard	NM_003279		Approved		uc002xpr.3	P02585	OTTHUMG00000032623	ENST00000372555.3:c.4-1C>T	20.37:g.44453472G>A							p.T2_splice	NM_003279	NP_003270	P02585	TNNC2_HUMAN			2	70	-		Myeloproliferative disorder(115;0.0122)	2	TD -> DT (in Ref. 6; AA sequence).				Q6FH92	Missense_Mutation	SNP	ENST00000372555.3	37	c.4_splice	CCDS13375.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512223	0.85389	.	.	ENSG00000101470	ENST00000372555	T	0.73363	-0.74	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.77631	0.4159	L	0.40543	1.245	0.80722	D	1	D	0.76494	0.999	P	0.55615	0.78	T	0.80603	-0.1309	10	0.87932	D	0	-20.705	16.7956	0.85601	0.0:0.0:1.0:0.0	.	2	P02585	TNNC2_HUMAN	M	2	ENSP00000361636:T2M	ENSP00000361636:T2M	T	-	2	0	TNNC2	43886879	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	7.284000	0.78650	2.536000	0.85505	0.462000	0.41574	ACG		0.612	TNNC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079524.3	NM_003279	Missense_Mutation
GOLGA4	2803	broad.mit.edu	37	3	37366849	37366849	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:37366849G>A	ENST00000361924.2	+	14	3846	c.3472G>A	c.(3472-3474)Gtt>Att	p.V1158I	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.V1180I	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1158	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGCAGCTAGTTGAACTGAA	0.383																																						uc003cgv.3																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(3472-3474)Gtt>Att		Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.							45.0	46.0	46.0					3																	37366849		2203	4298	6501	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37366849G>A	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3472G>A	3.37:g.37366849G>A	ENSP00000354486:p.Val1158Ile					GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I	p.V1158I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			13	3832	+			1158			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.3472G>A	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	9.667	1.145700	0.21288	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.22743	1.94;1.94;1.94	5.66	-1.06	0.10002	.	0.772568	0.10611	N	0.654500	T	0.15998	0.0385	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.28073	-1.0055	10	0.39692	T	0.17	.	7.3982	0.26948	0.4809:0.1152:0.4038:0.0	.	1158;1158;1180;1158	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	I	1158;1180;1029	ENSP00000354486:V1158I;ENSP00000349305:V1180I;ENSP00000405842:V1029I	ENSP00000349305:V1180I	V	+	1	0	GOLGA4	37341853	0.000000	0.05858	0.001000	0.08648	0.904000	0.53231	0.450000	0.21762	0.019000	0.15079	-0.136000	0.14681	GTT		0.383	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
FAM86DP	692099	broad.mit.edu	37	3	75475655	75475655	+	RNA	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:75475655C>T	ENST00000459803.1	-	0	874					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		GTAAAGGCCACGTAGACCTCA	0.647																																						uc003dpp.4																			0											c.(583-585)Gtg>Atg		Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA.																																						692099							g.chr3:75475655C>T	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475655C>T						FAM86DP_uc003dps.4_Non-coding_Transcript|FAM86DP_uc003dpq.4_Missense_Mutation_p.V103M|FAM86DP_uc003dpr.4_Non-coding_Transcript	p.V195M							6	942	-									Missense_Mutation	SNP	ENST00000459803.1	37	c.583G>A																																																																																					0.647	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241	
CEP63	80254	broad.mit.edu	37	3	134225989	134225989	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:134225989T>C	ENST00000337090.3	+	3	256	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CEP63_ENST00000332047.5_Missense_Mutation_p.L28P|CEP63_ENST00000383229.3_Missense_Mutation_p.L28P|CEP63_ENST00000513612.2_Missense_Mutation_p.L28P|CEP63_ENST00000504013.1_3'UTR|CEP63_ENST00000606977.1_Missense_Mutation_p.L28P|CEP63_ENST00000354446.3_Missense_Mutation_p.L28P			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	28					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACAGGAGCTCATGAAACAG	0.363																																						uc003eqo.1																			0				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(82-84)cTc>cCc		Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.							109.0	110.0	110.0					3																	134225989		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134225989T>C	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.83T>C	3.37:g.134225989T>C	ENSP00000336524:p.Leu28Pro					CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	p.L28P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			3	532	+			28					D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.83T>C	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.253119	0.80135	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000512894;ENST00000513612	T;T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49;1.49	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000003	T	0.56804	0.2010	M	0.75777	2.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.999	T	0.60969	-0.7157	10	0.87932	D	0	-4.8436	15.1658	0.72825	0.0:0.0:0.0:1.0	.	28;28;28;28	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	P	28	ENSP00000328382:L28P;ENSP00000346432:L28P;ENSP00000424626:L28P;ENSP00000336524:L28P;ENSP00000372716:L28P;ENSP00000423225:L28P;ENSP00000426129:L28P	ENSP00000328382:L28P	L	+	2	0	CEP63	135708679	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.261000	0.65496	2.228000	0.72767	0.533000	0.62120	CTC		0.363	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180	
HTR3D	200909	broad.mit.edu	37	3	183756271	183756271	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:183756271C>A	ENST00000382489.3	+	7	994	c.994C>A	c.(994-996)Cac>Aac	p.H332N	HTR3D_ENST00000334128.2_Missense_Mutation_p.H157N|HTR3D_ENST00000428798.2_Missense_Mutation_p.H282N|HTR3D_ENST00000453435.1_Missense_Mutation_p.H111N	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	332					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Ergoloid mesylate(DB01049)	CCACCTGCTGCACGTGGCCAC	0.652																																						uc011bqv.2																			0				large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10						c.(994-996)Cac>Aac		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.							86.0	80.0	82.0					3																	183756271		2203	4300	6503	SO:0001583	missense	200909					integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity	g.chr3:183756271C>A	AY159812	CCDS3249.1, CCDS46966.1, CCDS54685.1	3q27	2012-05-22	2012-02-03		ENSG00000186090	ENSG00000186090		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24004	protein-coding gene	gene with protein product		610122	"""5-hydroxytryptamine (serotonin) receptor 3 family member D"""			12801637	Standard	NM_001145143		Approved		uc011bqv.2	Q70Z44	OTTHUMG00000156858	ENST00000382489.3:c.994C>A	3.37:g.183756271C>A	ENSP00000371929:p.His332Asn					HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N	p.H332N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		6	994	+	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		332					C9J2I6|J3QT78|Q495N5|Q495N6|Q7Z6B3	Missense_Mutation	SNP	ENST00000382489.3	37	c.994C>A	CCDS54685.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.924028	0.34002	.	.	ENSG00000186090	ENST00000334128;ENST00000428798;ENST00000382489;ENST00000453435	D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09	3.36	2.38	0.29361	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.511172	0.20460	N	0.091915	D	0.86732	0.6003	M	0.71920	2.185	0.20703	N	0.999863	P;B;B;B	0.36086	0.536;0.176;0.095;0.331	B;B;B;B	0.44224	0.444;0.204;0.121;0.276	T	0.79650	-0.1715	10	0.59425	D	0.04	-12.5057	7.2027	0.25889	0.2652:0.7348:0.0:0.0	.	332;157;111;157	Q70Z44;Q70Z44-2;Q70Z44-3;F6WC43	5HT3D_HUMAN;.;.;.	N	157;282;332;111	ENSP00000334315:H157N;ENSP00000405409:H282N;ENSP00000371929:H332N;ENSP00000389268:H111N	ENSP00000334315:H157N	H	+	1	0	HTR3D	185238965	0.850000	0.29656	1.000000	0.80357	0.842000	0.47809	0.598000	0.24074	1.879000	0.54435	0.462000	0.41574	CAC		0.652	HTR3D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346289.1	NM_182537	
TRIML2	205860	broad.mit.edu	37	4	189018255	189018255	+	Silent	SNP	G	G	A	rs144128750		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493																																						uc011cle.1																			0				central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39						c.(778-780)tgC>tgT		Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.		G		0,4406		0,0,2203	143.0	134.0	137.0		555	1.8	0.0	4	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	TRIML2	NM_173553.1		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		185/388	189018255	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	205860						ligase activity	g.chr4:189018255G>A	AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.555C>T	4.37:g.189018255G>A						TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C	p.C260C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)	6	1002	-		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)	185			B30.2/SPRY.		B7Z6J6	Silent	SNP	ENST00000512729.1	37	c.780C>T	CCDS3850.1																																																																																				0.493	TRIML2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359733.1	NM_173553	
HCN1	348980	broad.mit.edu	37	5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:45262592C>T	ENST00000303230.4	-	8	2161	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	702					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642																																						uc003jok.3																			0		p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(2104-2106)Gcg>Acg		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							65.0	63.0	64.0					5																	45262592		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262592C>T	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2104G>A	5.37:g.45262592C>T	ENSP00000307342:p.Ala702Thr						p.A702T	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	2129	-			702						Missense_Mutation	SNP	ENST00000303230.4	37	c.2104G>A	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.112593	0.56398	.	.	ENSG00000164588	ENST00000303230	T	0.76448	-1.02	5.39	5.39	0.77823	.	0.292882	0.27991	N	0.017024	T	0.70176	0.3194	L	0.55481	1.735	0.51233	D	0.999911	P	0.40144	0.704	B	0.28139	0.086	T	0.69910	-0.5017	10	0.18710	T	0.47	.	19.1659	0.93557	0.0:1.0:0.0:0.0	.	702	O60741	HCN1_HUMAN	T	702	ENSP00000307342:A702T	ENSP00000307342:A702T	A	-	1	0	HCN1	45298349	0.998000	0.40836	0.159000	0.22649	0.977000	0.68977	3.853000	0.55941	2.528000	0.85240	0.563000	0.77884	GCG		0.642	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
ARHGEF28	64283	broad.mit.edu	37	5	73048878	73048878	+	Missense_Mutation	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:73048878G>A	ENST00000426542.2	+	3	346	c.326G>A	c.(325-327)cGc>cAc	p.R109H	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.R109H|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.R109H|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.R109H|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.R109H|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.R109H			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	109					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAGGCCAATCGCCTCACAGCC	0.617																																						uc010izf.3																			0											c.(325-327)cGc>cAc		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							36.0	39.0	38.0					5																	73048878		2153	4264	6417	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73048878G>A		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.326G>A	5.37:g.73048878G>A	ENSP00000412175:p.Arg109His					RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H	p.R109H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	3	502	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	109					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.326G>A	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.352064	0.61183	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542	T;T;T;T;T;T	0.10860	3.08;3.07;3.07;2.83;3.07;3.07	5.82	4.91	0.64330	.	.	.	.	.	T	0.22666	0.0547	L	0.40543	1.245	0.26172	N	0.979844	D;D;D;D	0.71674	0.996;0.996;0.998;0.997	P;P;P;P	0.59703	0.732;0.732;0.843;0.862	T	0.03773	-1.1005	9	0.40728	T	0.16	.	17.5734	0.87941	0.0:0.1342:0.8658:0.0	.	109;109;109;109	Q8N1W1;E9PC75;Q8N1W1-2;Q8N1W1-4	RGNEF_HUMAN;.;.;.	H	109	ENSP00000296794:R109H;ENSP00000441913:R109H;ENSP00000441436:R109H;ENSP00000287898:R109H;ENSP00000411459:R109H;ENSP00000412175:R109H	ENSP00000287898:R109H	R	+	2	0	RP11-428C6.1	73084634	1.000000	0.71417	0.999000	0.59377	0.425000	0.31504	4.704000	0.61831	2.757000	0.94681	0.561000	0.74099	CGC		0.617	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
FBXO38	81545	broad.mit.edu	37	5	147807459	147807459	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:147807459C>A	ENST00000340253.5	+	15	2770	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	FBXO38_ENST00000513826.1_Intron|CTD-2283N19.1_ENST00000520980.2_RNA|FBXO38_ENST00000394370.3_Intron|FBXO38_ENST00000296701.6_Intron			Q6PIJ6	FBX38_HUMAN	F-box protein 38	868					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGAGGCCCCTAACCAGGGC	0.562																																						uc003lpf.1																		ATG4C/FBXO38(2)	0				NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51						c.(2602-2604)Cta>Ata		Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.							43.0	47.0	45.0					5																	147807459		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147807459C>A	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.2602C>A	5.37:g.147807459C>A	ENSP00000342023:p.Leu868Ile					FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	p.L868I	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2722	+			868					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.2602C>A		.	.	.	.	.	.	.	.	.	.	C	12.66	2.005494	0.35415	.	.	ENSG00000145868	ENST00000340253	T	0.37584	1.19	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000001	T	0.23330	0.0564	N	0.19112	0.55	0.80722	D	1	B	0.31705	0.336	B	0.27796	0.083	T	0.05084	-1.0907	10	0.37606	T	0.19	-9.3759	12.0807	0.53669	0.0:0.9215:0.0:0.0785	.	868	Q6PIJ6	FBX38_HUMAN	I	868	ENSP00000342023:L868I	ENSP00000342023:L868I	L	+	1	2	FBXO38	147787652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.220000	0.42908	2.779000	0.95612	0.591000	0.81541	CTA		0.562	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
FOXI1	2299	broad.mit.edu	37	5	169535162	169535162	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:169535162C>A	ENST00000306268.6	+	2	745	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	228					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGCCTCCTTGGCCTTAG	0.532									Pendred syndrome																													uc003mai.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(682-684)tcC>tcA		Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.							65.0	68.0	67.0					5																	169535162		2203	4300	6503	SO:0001819	synonymous_variant	2299	Pendred syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169535162C>A	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.684C>A	5.37:g.169535162C>A						FOXI1_uc003maj.4_Intron	p.S228S	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	729	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	228					Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.684C>A	CCDS4372.1																																																																																				0.532	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
DAXX	1616	broad.mit.edu	37	6	33286946	33286946	+	Missense_Mutation	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33286946C>A	ENST00000374542.5	-	7	2195	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F	DAXX_ENST00000266000.6_Missense_Mutation_p.C664F|DAXX_ENST00000477162.1_5'Flank|DAXX_ENST00000414083.2_Missense_Mutation_p.C589F|ZBTB22_ENST00000431845.2_5'Flank|ZBTB22_ENST00000418724.1_5'Flank	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	664	Interaction with SPOP.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGCAGGGTACATATCTTTTT	0.542			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	uc003oec.3				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(1990-1992)tGt>tTt		Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.							97.0	102.0	100.0					6																	33286946		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33286946C>A	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.1991G>T	6.37:g.33286946C>A	ENSP00000363668:p.Cys664Phe					ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F	p.C664F	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN			6	2195	-			664			Interaction with SPOP.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.1991G>T	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.660734	0.00772	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000414083	.	.	.	4.67	1.74	0.24563	.	1.907410	0.02251	N	0.066605	T	0.16557	0.0398	L	0.36672	1.1	0.09310	N	1	B;B	0.28850	0.225;0.225	B;B	0.32928	0.155;0.155	T	0.24119	-1.0169	9	0.56958	D	0.05	4.1172	4.4314	0.11529	0.0:0.5831:0.1965:0.2204	.	676;664	B4E1C1;Q9UER7	.;DAXX_HUMAN	F	664;664;589	.	ENSP00000266000:C664F	C	-	2	0	DAXX	33394924	0.000000	0.05858	0.000000	0.03702	0.127000	0.20565	-0.094000	0.11094	0.146000	0.19002	0.643000	0.83706	TGT		0.542	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1		
IP6K3	117283	broad.mit.edu	37	6	33690701	33690701	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33690701C>T	ENST00000293756.4	-	6	1355	c.1029G>A	c.(1027-1029)ccG>ccA	p.P343P	IP6K3_ENST00000451316.1_Silent_p.P343P	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	343					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						CGTGAGGATGCGGGCTGCCTG	0.552																																						uc010jvf.2																			0				skin(1)	1						c.(1027-1029)ccG>ccA		Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.							75.0	76.0	76.0					6																	33690701		2203	4300	6503	SO:0001819	synonymous_variant	117283				inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	g.chr6:33690701C>T	AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.1029G>A	6.37:g.33690701C>T						IP6K3_uc003ofb.2_Silent_p.P343P	p.P343P	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN			6	1565	-			343					Q96MQ9	Silent	SNP	ENST00000293756.4	37	c.1029G>A	CCDS34435.1																																																																																				0.552	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040203.1	NM_054111	
ABCB5	340273	broad.mit.edu	37	7	20782599	20782599	+	Nonsense_Mutation	SNP	C	C	T	rs201925737		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:20782599C>T	ENST00000404938.2	+	25	3776	c.3124C>T	c.(3124-3126)Cga>Tga	p.R1042*	ABCB5_ENST00000258738.6_Nonsense_Mutation_p.R597*	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1042	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTATTGAGCGAGGAAAGAC	0.483																																						uc010kuh.3																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3124-3126)Cga>Tga		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.		C	stop/ARG,stop/ARG	0,4406		0,0,2203	121.0	112.0	115.0		3124,1789	3.8	1.0	7		115	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	ABCB5	NM_001163941.1,NM_178559.5	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	1042/1258,597/813	20782599	1,13005	2203	4300	6503	SO:0001587	stop_gained	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782599C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3124C>T	7.37:g.20782599C>T	ENSP00000384881:p.Arg1042*					ABCB5_uc003suw.4_Nonsense_Mutation_p.R597*	p.R1042*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN			24	3361	+			597					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Nonsense_Mutation	SNP	ENST00000404938.2	37	c.3124C>T	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	C	41	8.540197	0.98854	0.0	1.16E-4	ENSG00000004846	ENST00000404938;ENST00000258738	.	.	.	4.96	3.82	0.43975	.	0.452151	0.19551	N	0.111580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	10.9878	0.47532	0.8352:0.1648:0.0:0.0	.	.	.	.	X	1042;597	.	ENSP00000258738:R597X	R	+	1	2	ABCB5	20749124	0.051000	0.20477	1.000000	0.80357	0.379000	0.30106	1.077000	0.30741	0.923000	0.37045	-0.271000	0.10264	CGA		0.483	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	
C7orf60	154743	broad.mit.edu	37	7	112461814	112461814	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:112461814T>C	ENST00000297145.4	-	5	1368	c.1203A>G	c.(1201-1203)atA>atG	p.I401M	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	401							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTAAAAGTAATATGGGGTCTT	0.398																																						uc011kms.1																			0				breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1279-1281)atA>atG		Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.							94.0	90.0	91.0					7																	112461814		1807	4071	5878	SO:0001583	missense	154743							g.chr7:112461814T>C		CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.1203A>G	7.37:g.112461814T>C	ENSP00000297145:p.Ile401Met					C7orf60_uc003vgo.1_Missense_Mutation_p.I401M	p.I427M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN			5	1408	-			401					Q8N3D0|Q96MV7	Missense_Mutation	SNP	ENST00000297145.4	37	c.1281A>G	CCDS43634.1	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466839	0.43839	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.83	-0.125	0.13519	.	0.043194	0.85682	D	0.000000	T	0.36054	0.0953	N	0.24115	0.695	0.45227	D	0.998236	D;P	0.54397	0.966;0.917	P;B	0.49665	0.618;0.426	T	0.20739	-1.0266	9	0.87932	D	0	-11.2855	7.1753	0.25740	0.228:0.0:0.2495:0.5225	.	348;401	B4DST1;Q1RMZ1	.;CG060_HUMAN	M	401;383;348	.	ENSP00000297145:I401M	I	-	3	3	C7orf60	112249050	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.584000	0.23864	0.411000	0.25702	0.477000	0.44152	ATA		0.398	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338923.1	NM_152556	
PPP1R3A	5506	broad.mit.edu	37	7	113518832	113518832	+	Missense_Mutation	SNP	G	G	A	rs200605903		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:113518832G>A	ENST00000284601.3	-	4	2383	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCAAACGCTGTTTCCTT	0.403																																						uc010ljy.1																			0		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(2314-2316)gCg>gTg		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	124.0	108.0	113.0		2315	3.7	1.0	7		113	0,8598		0,0,4299	yes	missense	PPP1R3A	NM_002711.3	64	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	772/1123	113518832	1,13003	2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113518832G>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2315C>T	7.37:g.113518832G>A	ENSP00000284601:p.Ala772Val						p.A772V	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			3	2346	-			772					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2315C>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136028	0.56936	2.27E-4	0.0	ENSG00000154415	ENST00000284601	T	0.25912	1.77	5.77	3.72	0.42706	.	0.293315	0.29602	N	0.011682	T	0.39784	0.1091	M	0.72894	2.215	0.33728	D	0.617853	D	0.71674	0.998	P	0.57502	0.822	T	0.53704	-0.8401	10	0.45353	T	0.12	1.5176	7.9596	0.30064	0.345:0.0:0.655:0.0	.	772	Q16821	PPR3A_HUMAN	V	772	ENSP00000284601:A772V	ENSP00000284601:A772V	A	-	2	0	PPP1R3A	113306068	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	1.064000	0.30579	0.592000	0.29728	0.650000	0.86243	GCG		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
OR2A1	346528	broad.mit.edu	37	7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:144015510C>T	ENST00000408951.1	+	1	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M	OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000486094.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000478925.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000475089.1_RNA|OR2A1-AS1_ENST00000493539.1_RNA|OR2A1-AS1_ENST00000496968.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|OR2A1-AS1_ENST00000467944.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000488041.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577																																						uc011kud.2																			0				large_intestine(1)|lung(3)|skin(2)	6						c.(292-294)aCg>aTg		Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.							187.0	213.0	204.0					7																	144015510		2202	4298	6500	SO:0001583	missense	346528				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:144015510C>T		CCDS43673.1	7q35	2013-09-20			ENSG00000221970	ENSG00000221970		"""GPCR / Class A : Olfactory receptors"""	8229	protein-coding gene	gene with protein product							Standard	NM_001005287		Approved		uc011kub.2	Q8NGT9	OTTHUMG00000158005	ENST00000408951.1:c.293C>T	7.37:g.144015510C>T	ENSP00000386175:p.Thr98Met					OR2A9P_uc003wec.1_Intron	p.T98M	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN			0	293	+	Melanoma(164;0.14)		98					Q6IF44|Q96R46	Missense_Mutation	SNP	ENST00000408951.1	37	c.293C>T	CCDS43673.1	.	.	.	.	.	.	.	.	.	.	c	0	-2.847531	0.00067	.	.	ENSG00000221970	ENST00000408951	T	0.02974	4.09	2.96	-0.0411	0.13869	.	.	.	.	.	T	0.04634	0.0126	L	0.56769	1.78	0.09310	N	1	.	.	.	.	.	.	T	0.42275	-0.9461	7	0.16896	T	0.51	.	9.3031	0.37858	0.0:0.7607:0.0:0.2393	.	.	.	.	M	98	ENSP00000386175:T98M	ENSP00000386175:T98M	T	+	2	0	OR2A1	143646443	0.000000	0.05858	0.007000	0.13788	0.037000	0.13140	-0.483000	0.06536	0.096000	0.17463	-1.855000	0.00564	ACG		0.577	OR2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349985.1		
GIMAP1	170575	broad.mit.edu	37	7	150417468	150417468	+	Missense_Mutation	SNP	G	G	A	rs374968861		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:150417468G>A	ENST00000307194.5	+	3	516	c.376G>A	c.(376-378)Gcc>Acc	p.A126T		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	126	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.A126T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCGGTTCACCGCCCAGGACCA	0.637																																						uc003whq.3																			1	Substitution - Missense(1)	p.A126T(1)	large_intestine(1)								c.(376-378)Gcc>Acc		Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.		G	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	46.0	45.0	45.0		376,376	-4.7	0.0	7		45	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GIMAP1,GIMAP1-GIMAP5	NM_001199577.1,NM_130759.3	58,58	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	126/512,126/307	150417468	2,13004	2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417468G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.376G>A	7.37:g.150417468G>A	ENSP00000302833:p.Ala126Thr					GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.A126T	p.A126T	NM_130759	NP_570115					2	516	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.376G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	9.811	1.183215	0.21870	2.27E-4	1.16E-4	ENSG00000213203	ENST00000307194	T	0.61742	0.08	4.72	-4.65	0.03339	AIG1 (1);	3.346840	0.01980	U	0.044724	T	0.37237	0.0996	N	0.16266	0.395	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.13176	-1.0519	10	0.24483	T	0.36	.	6.2026	0.20585	0.5487:0.2703:0.1809:0.0	.	126	Q8WWP7	GIMA1_HUMAN	T	126	ENSP00000302833:A126T	ENSP00000302833:A126T	A	+	1	0	GIMAP1	150048401	0.000000	0.05858	0.001000	0.08648	0.627000	0.37826	-0.026000	0.12392	-0.826000	0.04284	-0.751000	0.03497	GCC		0.637	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759	
FAM110B	90362	broad.mit.edu	37	8	59059573	59059573	+	Missense_Mutation	SNP	G	G	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:59059573G>C	ENST00000361488.3	+	5	1664	c.784G>C	c.(784-786)Gac>Cac	p.D262H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	262						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562																																						uc022auu.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26						c.(784-786)Gac>Cac		Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.							95.0	103.0	100.0					8																	59059573		2203	4300	6503	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059573G>C	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.784G>C	8.37:g.59059573G>C	ENSP00000355204:p.Asp262His					FAM110B_uc003xtj.1_Missense_Mutation_p.D262H	p.D262H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			0	784	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	262					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.784G>C	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033081	0.75504	.	.	ENSG00000169122	ENST00000361488	T	0.50813	0.73	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.72914	0.3520	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74728	-0.3567	9	.	.	.	-28.2133	19.4917	0.95052	0.0:0.0:1.0:0.0	.	262	Q8TC76	F110B_HUMAN	H	262	ENSP00000355204:D262H	.	D	+	1	0	FAM110B	59222127	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.770000	0.98971	2.580000	0.87095	0.561000	0.74099	GAC		0.562	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189	
ZFHX4	79776	broad.mit.edu	37	8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:77768255C>G	ENST00000521891.2	+	10	9546	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_ENST00000518282.1_Nonsense_Mutation_p.S3007*|ZFHX4_ENST00000455469.2_Nonsense_Mutation_p.S2988*|ZFHX4_ENST00000050961.6_Nonsense_Mutation_p.S2988*	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2988			V -> G (in dbSNP:rs16939380).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)																												uc003yau.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9097-9099)tCa>tGa		Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.							66.0	66.0	66.0					8																	77768255		1959	4144	6103	SO:0001587	stop_gained	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77768255C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9098C>G	8.37:g.77768255C>G	ENSP00000430497:p.Ser3033*	HNSCC(33;0.089)				ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	p.S3033*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		9	9485	+			2988		V -> G (in dbSNP:rs16939380).			G3V138|Q18PS0|Q6ZN20	Nonsense_Mutation	SNP	ENST00000521891.2	37	c.9098C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	51	18.191760	0.99901	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	.	.	.	5.33	4.46	0.54185	.	0.204155	0.24492	U	0.038046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.2922	0.43603	0.0:0.8508:0.0:0.1492	.	.	.	.	X	3033;3017;2988;2988;3007	.	ENSP00000050961:S2988X	S	+	2	0	ZFHX4	77930810	0.998000	0.40836	0.976000	0.42696	0.972000	0.66771	4.678000	0.61641	1.491000	0.48482	0.655000	0.94253	TCA		0.537	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
FAM83H	286077	broad.mit.edu	37	8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	rs572494015		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:144808629C>T	ENST00000388913.3	-	5	3127	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1001					biomineral tissue development (GO:0031214)					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													c|||	1	0.000199681	0.0008	0.0	5008	,	,		13490	0.0		0.0	False		,,,				2504	0.0					uc003yzk.3																			0				central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21						c.(3001-3003)cGt>cAt		Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.							9.0	13.0	12.0					8																	144808629		1979	4119	6098	SO:0001583	missense	286077				biomineral tissue development			g.chr8:144808629C>T	AK127960	CCDS6410.2	8q24.3	2014-03-13			ENSG00000180921	ENSG00000180921			24797	protein-coding gene	gene with protein product		611927				18252228	Standard	NM_198488		Approved	FLJ46072	uc003yzk.3	Q6ZRV2	OTTHUMG00000133559	ENST00000388913.3:c.3002G>A	8.37:g.144808629C>T	ENSP00000373565:p.Arg1001His						p.R1001H	NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		4	3071	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1001					A0JLS2|Q8N4W0	Missense_Mutation	SNP	ENST00000388913.3	37	c.3002G>A	CCDS6410.2	.	.	.	.	.	.	.	.	.	.	c	11.91	1.780065	0.31502	.	.	ENSG00000180921	ENST00000388913	T	0.16597	2.33	5.01	1.1	0.20463	.	3.864760	0.00897	N	0.002301	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	1	D	0.53151	0.958	B	0.38106	0.265	T	0.40117	-0.9580	10	0.62326	D	0.03	.	9.4019	0.38437	0.0:0.6975:0.0:0.3025	.	1001	Q6ZRV2	FA83H_HUMAN	H	1001	ENSP00000373565:R1001H	ENSP00000373565:R1001H	R	-	2	0	FAM83H	144880617	0.000000	0.05858	0.801000	0.32222	0.017000	0.09413	0.699000	0.25586	0.519000	0.28406	-0.273000	0.10243	CGT		0.697	FAM83H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257632.2	NM_198488	
PIP5K1B	8395	broad.mit.edu	37	9	71509330	71509330	+	Missense_Mutation	SNP	A	A	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:71509330A>G	ENST00000265382.3	+	8	852	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I183V	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	183	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGGCATTAATATCAGGATTGT	0.373																																						uc004agu.3																			0				breast(1)|large_intestine(2)|stomach(1)	4						c.(547-549)Atc>Gtc		Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.							88.0	82.0	84.0					9																	71509330		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71509330A>G	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.547A>G	9.37:g.71509330A>G	ENSP00000265382:p.Ile183Val					PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript	p.I183V	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	852	+			183			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.547A>G	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	A	16.57	3.159529	0.57368	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747	T;T	0.29917	1.55;1.55	5.82	5.82	0.92795	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	L	0.49640	1.575	0.58432	D	0.999999	B	0.31790	0.34	B	0.33392	0.163	T	0.04752	-1.0929	10	0.33141	T	0.24	-7.462	16.1966	0.82029	1.0:0.0:0.0:0.0	.	183	O14986	PI51B_HUMAN	V	183;183;183;130	ENSP00000438082:I183V;ENSP00000265382:I183V	ENSP00000265382:I183V	I	+	1	0	PIP5K1B	70699150	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.354000	0.79424	2.232000	0.73038	0.528000	0.53228	ATC		0.373	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558	
SPATA31E1	286234	broad.mit.edu	37	9	90501883	90501883	+	Silent	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:90501883C>G	ENST00000325643.5	+	4	2547	c.2481C>G	c.(2479-2481)ctC>ctG	p.L827L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	827					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTTCCTTCCTCCATCCCTGCA	0.562																																						uc004app.4																			0											c.(2479-2481)ctC>ctG		Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.							56.0	60.0	59.0					9																	90501883		2203	4300	6503	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90501883C>G	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.2481C>G	9.37:g.90501883C>G						FAM75E1_uc004apo.1_Silent_p.L639L	p.L827L	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			3	2516	+			827					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.2481C>G	CCDS6676.1																																																																																				0.562	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
MXRA5	25878	broad.mit.edu	37	X	3240193	3240193	+	Missense_Mutation	SNP	T	T	C			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:3240193T>C	ENST00000217939.6	-	5	3687	c.3533A>G	c.(3532-3534)gAg>gGg	p.E1178G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1178						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAAAAGTCTCTGATGGGGC	0.488																																						uc004crg.4																			0		p.E1178D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(3532-3534)gAg>gGg		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							115.0	117.0	116.0					X																	3240193		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3240193T>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3533A>G	X.37:g.3240193T>C	ENSP00000217939:p.Glu1178Gly						p.E1178G	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			4	3690	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1178					Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.3533A>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	9.640	1.138799	0.21123	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.70631	-0.5	3.61	-0.433	0.12287	.	0.362815	0.19541	N	0.111790	T	0.50633	0.1627	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.37709	-0.9694	10	0.72032	D	0.01	.	4.5952	0.12325	0.0:0.2819:0.3022:0.4158	.	1178	Q9NR99	MXRA5_HUMAN	G	1178	ENSP00000217939:E1178G	ENSP00000217939:E1178G	E	-	2	0	MXRA5	3250193	0.005000	0.15991	0.000000	0.03702	0.023000	0.10783	0.362000	0.20284	-0.526000	0.06383	0.422000	0.28245	GAG		0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
RAI2	10742	broad.mit.edu	37	X	17818870	17818870	+	Missense_Mutation	SNP	C	C	T	rs373934341		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:17818870C>T	ENST00000545871.1	-	3	1721	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	RAI2_ENST00000451717.1_Missense_Mutation_p.E421K|RAI2_ENST00000415486.3_Missense_Mutation_p.E371K|RAI2_ENST00000331511.1_Missense_Mutation_p.E421K|RAI2_ENST00000360011.1_Missense_Mutation_p.E421K	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	421					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTGACTTCGCCGCTGGGG	0.567																																						uc022btm.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22						c.(1261-1263)Gaa>Aaa		Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.		C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	1,3834		0,1,1631,571	91.0	89.0	90.0		1111,1261,1261,1261	4.3	0.1	X		90	0,6728		0,0,2428,1872	no	missense,missense,missense,missense	RAI2	NM_001172732.1,NM_001172739.1,NM_001172743.1,NM_021785.4	56,56,56,56	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	371/481,421/531,421/531,421/531	17818870	1,10562	2203	4300	6503	SO:0001583	missense	10742				embryo development			g.chrX:17818870C>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1261G>A	X.37:g.17818870C>T	ENSP00000444210:p.Glu421Lys					RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K	p.E421K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			0	1261	-	Hepatocellular(33;0.183)		421					B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	c.1261G>A	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.381935	0.42207	2.61E-4	0.0	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.32753	1.45;1.45;1.45;1.45;1.44	5.12	4.26	0.50523	.	0.347275	0.26262	N	0.025398	T	0.20210	0.0486	L	0.32530	0.975	0.37722	D	0.924947	P;P	0.49253	0.921;0.821	B;B	0.33339	0.162;0.162	T	0.14227	-1.0480	10	0.62326	D	0.03	-5.4531	12.9627	0.58468	0.0:0.9204:0.0:0.0796	.	371;421	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	K	421;421;421;421;371	ENSP00000333456:E421K;ENSP00000353106:E421K;ENSP00000444210:E421K;ENSP00000401323:E421K;ENSP00000392578:E371K	ENSP00000333456:E421K	E	-	1	0	RAI2	17728791	0.994000	0.37717	0.095000	0.20976	0.437000	0.31866	3.187000	0.50950	1.156000	0.42514	0.600000	0.82982	GAA		0.567	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
KLHL34	257240	broad.mit.edu	37	X	21675213	21675213	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:21675213C>G	ENST00000379499.2	-	1	1235	c.694G>C	c.(694-696)Gta>Cta	p.V232L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	232	BACK.					extracellular space (GO:0005615)				cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCCGCAGTACGTCGGCGGGA	0.667																																						uc004czz.1																			0		p.D231D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						c.(694-696)Gta>Cta		Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.							18.0	17.0	17.0					X																	21675213		2196	4289	6485	SO:0001583	missense	257240							g.chrX:21675213C>G	AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.694G>C	X.37:g.21675213C>G	ENSP00000368813:p.Val232Leu						p.V232L	NM_153270	NP_695002	Q8N239	KLH34_HUMAN			0	1236	-			232			BACK.			Missense_Mutation	SNP	ENST00000379499.2	37	c.694G>C	CCDS14199.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.094930	0.00364	.	.	ENSG00000185915	ENST00000379499	T	0.68181	-0.31	4.65	1.77	0.24775	BTB/Kelch-associated (2);	0.510095	0.19772	N	0.106416	T	0.34279	0.0892	N	0.04787	-0.16	0.09310	N	0.999996	B	0.06786	0.001	B	0.08055	0.003	T	0.28933	-1.0028	10	0.02654	T	1	.	5.8407	0.18633	0.0:0.5374:0.2948:0.1677	.	232	Q8N239	KLH34_HUMAN	L	232	ENSP00000368813:V232L	ENSP00000368813:V232L	V	-	1	0	KLHL34	21585134	0.968000	0.33430	0.072000	0.20136	0.061000	0.15899	2.433000	0.44793	0.051000	0.15978	0.422000	0.28245	GTA		0.667	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056022.1	NM_153270	
DUSP21	63904	broad.mit.edu	37	X	44703624	44703624	+	Silent	SNP	C	C	T	rs369441582		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:44703624C>T	ENST00000339042.4	+	1	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076.3	NP_071359.3	Q9H596	DUS21_HUMAN	dual specificity phosphatase 21	82	Sufficient for mitochondrial localization. {ECO:0000250}.|Tyrosine-protein phosphatase.				peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y82Y(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542																																						uc004dgd.3																			2	Substitution - coding silent(2)	p.Y82Y(4)	lung(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						c.(244-246)taC>taT		Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.		C		0,3835		0,0,1632,571	187.0	147.0	161.0		246	-2.1	0.0	X		161	1,6727		0,1,2427,1872	no	coding-synonymous	DUSP21	NM_022076.3		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		82/191	44703624	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	63904					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chrX:44703624C>T	AF143321	CCDS14264.1	Xp11.4-p11.23	2011-06-09			ENSG00000189037	ENSG00000189037		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	20476	protein-coding gene	gene with protein product		300678				12408986	Standard	NM_022076		Approved		uc004dgd.3	Q9H596	OTTHUMG00000021401	ENST00000339042.4:c.246C>T	X.37:g.44703624C>T							p.Y82Y	NM_022076	NP_071359	Q9H596	DUS21_HUMAN			0	376	+			82			Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.		Q0VDA6|Q6IAJ6|Q6YDQ8	Silent	SNP	ENST00000339042.4	37	c.246C>T	CCDS14264.1																																																																																				0.542	DUSP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056323.1	NM_022076	
EDA2R	60401	broad.mit.edu	37	X	65819404	65819404	+	Silent	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:65819404C>T	ENST00000374719.3	-	6	872	c.816G>A	c.(814-816)gaG>gaA	p.E272E	EDA2R_ENST00000450752.1_Silent_p.E293E|EDA2R_ENST00000253392.5_Silent_p.E293E|EDA2R_ENST00000451436.2_Silent_p.E148E|EDA2R_ENST00000396050.1_Silent_p.E272E|EDA2R_ENST00000456230.2_Silent_p.E272E	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	272					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCCCCAAGGTCTCAGCTCCAG	0.547																																						uc004dwt.2																			0		p.E293E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						c.(877-879)gaG>gaA		Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.							32.0	27.0	29.0					X																	65819404		2202	4295	6497	SO:0001819	synonymous_variant	60401				cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	g.chrX:65819404C>T	AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.816G>A	X.37:g.65819404C>T						EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E	p.E293E	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN			5	889	-			272					Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	ENST00000374719.3	37	c.879G>A	CCDS14386.1																																																																																				0.547	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057002.1	NM_021783	
PCDH11X	27328	broad.mit.edu	37	X	91873723	91873723	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:91873723C>A	ENST00000373094.1	+	7	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_ENST00000298274.8_Silent_p.V1239V|PCDH11X_ENST00000373097.1_Silent_p.V1266V|PCDH11X_ENST00000373088.1_Silent_p.V1239V|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Silent_p.V1268V|PCDH11X_ENST00000361655.2_Silent_p.V1258V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1276					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V1276V(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATCATCAGTCAGTTTGCAGC	0.517																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.2																			1	Substitution - coding silent(1)	p.V1276V(2)|p.S1275*(1)	lung(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3826-3828)gtC>gtA		Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.							252.0	225.0	234.0					X																	91873723		2203	4300	6503	SO:0001819	synonymous_variant	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873723C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3828C>A	X.37:g.91873723C>A						PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V	p.V1276V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			6	4673	+			1276					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	ENST00000373094.1	37	c.3828C>A	CCDS14461.1																																																																																				0.517	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
CSTF2	1478	broad.mit.edu	37	X	100075435	100075435	+	Silent	SNP	G	G	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:100075435G>T	ENST00000372972.2	+	1	46	c.30G>T	c.(28-30)gcG>gcT	p.A10A	CSTF2_ENST00000415585.2_Silent_p.A10A|SNORA9_ENST00000365361.1_RNA	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGACCCAGCGGTGGATCGTT	0.562																																						uc004egh.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						c.(28-30)gcG>gcT		Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.							152.0	107.0	122.0					X																	100075435		2203	4300	6503	SO:0001819	synonymous_variant	1478				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding	g.chrX:100075435G>T	BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.30G>T	X.37:g.100075435G>T						CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A	p.A10A	NM_001325	NP_001316	P33240	CSTF2_HUMAN			0	88	+			10					Q5H951|Q6LA74|Q8N502	Silent	SNP	ENST00000372972.2	37	c.30G>T	CCDS14473.1																																																																																				0.562	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058926.1	NM_001325	
TEX13B	56156	broad.mit.edu	37	X	107224498	107224498	+	Missense_Mutation	SNP	C	C	G			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:107224498C>G	ENST00000302917.1	-	3	843	c.751G>C	c.(751-753)Gtc>Ctc	p.V251L		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	251										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGAAGACAGACATGGCTGTTT	0.552																																						uc004enn.1																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(751-753)Gtc>Ctc		Homo sapiens testis expressed 13B (TEX13B), mRNA.							179.0	151.0	161.0					X																	107224498		2199	4300	6499	SO:0001583	missense	56156							g.chrX:107224498C>G	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.751G>C	X.37:g.107224498C>G	ENSP00000303777:p.Val251Leu						p.V251L	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	844	-			251					Q5JYF6	Missense_Mutation	SNP	ENST00000302917.1	37	c.751G>C	CCDS14534.1	.	.	.	.	.	.	.	.	.	.	C	6.949	0.544885	0.13312	.	.	ENSG00000170925	ENST00000302917	.	.	.	3.61	-0.564	0.11774	.	.	.	.	.	T	0.15782	0.0380	N	0.14661	0.345	0.09310	N	1	B	0.23650	0.089	B	0.16289	0.015	T	0.26950	-1.0088	8	0.16420	T	0.52	.	3.8435	0.08925	0.0:0.3415:0.3953:0.2632	.	251	Q9BXU2	TX13B_HUMAN	L	251	.	ENSP00000303777:V251L	V	-	1	0	TEX13B	107111154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.253000	0.08794	-0.251000	0.09542	-0.198000	0.12761	GTC		0.552	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1		
TRPC5	7224	broad.mit.edu	37	X	111020072	111020072	+	Silent	SNP	G	G	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:111020072G>A	ENST00000262839.2	-	11	3309	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	797					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTAAAAGAGACACTCTTGG	0.483																																						uc004epl.1																			0				biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(2389-2391)gtC>gtT		Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.							131.0	134.0	133.0					X																	111020072		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111020072G>A	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.2391C>T	X.37:g.111020072G>A							p.V797V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			10	3310	-			797					B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.2391C>T	CCDS14561.1																																																																																				0.483	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471	
AFF2	2334	broad.mit.edu	37	X	148059892	148059892	+	Splice_Site	SNP	C	C	T			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:148059892C>T	ENST00000370460.2	+	18	3956	c.3477C>T	c.(3475-3477)tgC>tgT	p.C1159C	AFF2_ENST00000286437.5_Splice_Site_p.C800C|AFF2_ENST00000370457.5_Splice_Site_p.C1124C|AFF2_ENST00000342251.3_Splice_Site_p.C1126C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1159					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCACAGCTACCGATGTT	0.378																																						uc004fcp.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.e18-1		Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.							189.0	165.0	173.0					X																	148059892		2203	4300	6503	SO:0001630	splice_region_variant	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148059892C>T	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.3477-1C>T	X.37:g.148059892C>T						AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice	p.C1159_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN			18	3956	+	Acute lymphoblastic leukemia(192;6.56e-05)		1159					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	c.3477_splice	CCDS14684.1																																																																																				0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	Silent
MTMR1	8776	broad.mit.edu	37	X	149931076	149931076	+	Silent	SNP	C	C	A			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:149931076C>A	ENST00000370390.3	+	15	2029	c.1872C>A	c.(1870-1872)gtC>gtA	p.V624V	MTMR1_ENST00000445323.2_Silent_p.V632V|MTMR1_ENST00000544228.1_Silent_p.V624V|MTMR1_ENST00000538506.1_Intron|MTMR1_ENST00000541925.1_Silent_p.V530V	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	624					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGCCGTCAGGGCGGAGC	0.627																																						uc004feh.1																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23						c.(1894-1896)gtC>gtA		Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.							76.0	65.0	68.0					X																	149931076		2203	4300	6503	SO:0001819	synonymous_variant	8776					plasma membrane	protein tyrosine phosphatase activity	g.chrX:149931076C>A	U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1872C>A	X.37:g.149931076C>A						MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	p.V632V	NM_003828	NP_003819	Q13613	MTMR1_HUMAN			15	2031	+	Acute lymphoblastic leukemia(192;6.56e-05)		624					A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Silent	SNP	ENST00000370390.3	37	c.1896C>A	CCDS14695.1																																																																																				0.627	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060863.2	NM_003828, NM_176789	
ABCD1	215	broad.mit.edu	37	X	153008746	153008746	+	Missense_Mutation	SNP	C	C	T	rs74315282		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:153008746C>T	ENST00000218104.3	+	9	2336	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	646	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		A -> P (in ALD). {ECO:0000269|PubMed:10737980}.		alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCCAGGCGGCCAAGGAC	0.672																																						uc004fif.2																			0		p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1936-1938)gCg>gTg		Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.							26.0	22.0	23.0					X																	153008746		2199	4295	6494	SO:0001583	missense	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153008746C>T	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1937C>T	X.37:g.153008746C>T	ENSP00000218104:p.Ala646Val						p.A646V	NM_000033	NP_000024	P33897	ABCD1_HUMAN			8	2336	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		646		A -> P (in X-ALD).	ABC transporter.		Q6GTZ2	Missense_Mutation	SNP	ENST00000218104.3	37	c.1937C>T	CCDS14728.1	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006233	0.54361	.	.	ENSG00000101986	ENST00000218104	D	0.99848	-7.14	4.88	4.88	0.63580	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000004	D	0.98579	0.9525	L	0.38838	1.175	0.80722	D	1	P	0.47604	0.898	B	0.31245	0.126	D	0.99985	1.3068	10	0.12766	T	0.61	-37.0282	16.1714	0.81820	0.0:1.0:0.0:0.0	.	646	P33897	ABCD1_HUMAN	V	646	ENSP00000218104:A646V	ENSP00000218104:A646V	A	+	2	0	ABCD1	152661940	1.000000	0.71417	0.917000	0.36280	0.681000	0.39784	7.426000	0.80270	2.156000	0.67533	0.523000	0.50628	GCG		0.672	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	NM_000033	
