#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
MFN2	9927	broad.mit.edu	37	1	12052619	12052619	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:12052619C>G	ENST00000235329.5	+	4	505	c.183C>G	c.(181-183)taC>taG	p.Y61*	MFN2_ENST00000444836.1_Nonsense_Mutation_p.Y61*|MFN2_ENST00000497302.1_3'UTR	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	61					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGACACGTACAGGAATGCAG	0.562																																						uc001atn.4																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(181-183)taC>taG		Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							167.0	148.0	154.0					1																	12052619		2203	4300	6503	SO:0001587	stop_gained	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052619C>G	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.183C>G	1.37:g.12052619C>G	ENSP00000235329:p.Tyr61*					MFN2_uc009vni.3_Nonsense_Mutation_p.Y61*	p.Y61*	NM_014874	NP_055689	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	3	636	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	61					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Nonsense_Mutation	SNP	ENST00000235329.5	37	c.183C>G	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536832	0.85812	.	.	ENSG00000116688	ENST00000444836;ENST00000235329;ENST00000412236	.	.	.	5.54	3.33	0.38152	.	0.374452	0.30723	N	0.009006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.9356	12.5	0.55950	0.0:0.8393:0.0:0.1607	.	.	.	.	X	61	.	ENSP00000235329:Y61X	Y	+	3	2	MFN2	11975206	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.994000	0.40757	1.332000	0.45431	-0.291000	0.09656	TAC		0.562	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
JAK1	3716	broad.mit.edu	37	1	65313353	65313353	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:65313353C>A	ENST00000342505.4	-	13	2009	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	JAK1_ENST00000465376.1_5'UTR	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	587	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TCCCAAGGTGCTCGCCCTGAG	0.507			Mis		ALL																																	uc001dbu.1				Dom	yes		1	1p32.3-p31.3	3716	Mis	Janus kinase 1			L			ALL		0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						c.(1759-1761)gaG>gaT		Homo sapiens Janus kinase 1 (JAK1), mRNA.							115.0	116.0	116.0					1																	65313353		1989	4142	6131	SO:0001583	missense	3716				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr1:65313353C>A	M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1761G>T	1.37:g.65313353C>A	ENSP00000343204:p.Glu587Asp					JAK1_uc009wam.1_Missense_Mutation_p.E587D|JAK1_uc009wal.1_5'Flank	p.E587D	NM_002227	NP_002218	P23458	JAK1_HUMAN		BRCA - Breast invasive adenocarcinoma(111;0.0485)	12	2010	-			587			Protein kinase 1.		Q59GQ2|Q9UD26	Missense_Mutation	SNP	ENST00000342505.4	37	c.1761G>T	CCDS41346.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919871	0.73098	.	.	ENSG00000162434	ENST00000342505	T	0.35973	1.28	4.81	1.86	0.25419	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.37046	0.0989	M	0.67700	2.07	0.43292	D	0.995273	D	0.76494	0.999	D	0.80764	0.994	T	0.22836	-1.0205	9	0.45353	T	0.12	-8.2836	4.4957	0.11835	0.1498:0.5285:0.0:0.3217	.	587	P23458	JAK1_HUMAN	D	587	ENSP00000343204:E587D	ENSP00000343204:E587D	E	-	3	2	JAK1	65085941	0.257000	0.24022	0.996000	0.52242	0.926000	0.56050	-0.404000	0.07205	0.316000	0.23135	0.655000	0.94253	GAG		0.507	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025791.1	NM_002227	
EPHX4	253152	broad.mit.edu	37	1	92515977	92515977	+	Splice_Site	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:92515977G>C	ENST00000370383.4	+	5	806	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	236						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATGATTTCAAGGTAAGCCAAA	0.269																																					GBM(140;473 1857 5172 22066 49719)	uc001don.2																			0				central_nervous_system(1)|large_intestine(3)|lung(8)	12						c.e5+1		Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.							62.0	63.0	62.0					1																	92515977		2203	4294	6497	SO:0001630	splice_region_variant	253152					integral to membrane	hydrolase activity	g.chr1:92515977G>C	AK074822	CCDS736.1	1p22.1	2011-10-05	2009-04-06	2009-04-06	ENSG00000172031	ENSG00000172031		"""Abhydrolase domain containing"""	23758	protein-coding gene	gene with protein product			"""abhydrolase domain containing 7"""	ABHD7		12477932	Standard	NM_173567		Approved	EPHXRP, FLJ90341	uc001don.2	Q8IUS5	OTTHUMG00000010114	ENST00000370383.4:c.708+1G>C	1.37:g.92515977G>C							p.K236_splice	NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN			5	812	+			236					Q8NCC6	Missense_Mutation	SNP	ENST00000370383.4	37	c.708_splice	CCDS736.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889719	0.72524	.	.	ENSG00000172031	ENST00000370383	T	0.67865	-0.29	5.55	4.64	0.57946	.	0.044652	0.85682	D	0.000000	T	0.52805	0.1757	L	0.56340	1.77	0.80722	D	1	B	0.33549	0.417	B	0.40982	0.345	T	0.53865	-0.8378	10	0.24483	T	0.36	.	14.4221	0.67190	0.0709:0.0:0.9291:0.0	.	236	Q8IUS5	EPHX4_HUMAN	N	236	ENSP00000359410:K236N	ENSP00000359410:K236N	K	+	3	2	EPHX4	92288565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.419000	0.80179	1.353000	0.45828	0.467000	0.42956	AAG		0.269	EPHX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027985.1	NM_173567	Missense_Mutation
EXTL2	2135	broad.mit.edu	37	1	101339636	101339636	+	Silent	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:101339636A>G	ENST00000370114.3	-	5	2291	c.855T>C	c.(853-855)caT>caC	p.H285H	EXTL2_ENST00000535414.1_Silent_p.H272H|EXTL2_ENST00000370113.3_Silent_p.H285H	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	285	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTCAGCTCGATGCCACATTC	0.398																																						uc001dtk.1																			0		p.W284*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(853-855)caT>caC		Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.							89.0	82.0	84.0					1																	101339636		2203	4299	6502	SO:0001819	synonymous_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339636A>G	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.855T>C	1.37:g.101339636A>G						EXTL2_uc001dtl.1_Silent_p.H285H|EXTL2_uc010ouk.1_Silent_p.H272H|EXTL2_uc001dtm.1_Silent_p.H284H	p.H285H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	4	1192	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	285					B2R795|D3DT60	Silent	SNP	ENST00000370114.3	37	c.855T>C	CCDS775.1																																																																																				0.398	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439	
NUP210L	91181	broad.mit.edu	37	1	154125256	154125256	+	Missense_Mutation	SNP	G	G	C	rs150389273		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:154125256G>C	ENST00000368559.3	-	2	367	c.296C>G	c.(295-297)aCg>aGg	p.T99R	NUP210L_ENST00000271854.3_Missense_Mutation_p.T99R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	99					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423																																						uc001fdw.3																			0		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(295-297)aCg>aGg		Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.							129.0	122.0	124.0					1																	154125256		1920	4130	6050	SO:0001583	missense	91181					integral to membrane		g.chr1:154125256G>C	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.296C>G	1.37:g.154125256G>C	ENSP00000357547:p.Thr99Arg					NUP210L_uc010peh.2_Missense_Mutation_p.T99R	p.T99R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		1	368	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		99					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.296C>G	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347949	0.61183	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	T;T	0.07444	3.44;3.19	5.23	5.23	0.72850	.	0.187113	0.37577	N	0.002039	T	0.09423	0.0232	L	0.38838	1.175	0.32741	N	0.507669	D;P	0.52996	0.957;0.8	P;B	0.57009	0.811;0.322	T	0.02059	-1.1221	10	0.45353	T	0.12	-5.8685	15.88	0.79197	0.0:0.0:1.0:0.0	.	99;99	E7EP56;Q5VU65	.;P210L_HUMAN	R	99	ENSP00000357547:T99R;ENSP00000271854:T99R	ENSP00000271854:T99R	T	-	2	0	NUP210L	152391880	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	2.929000	0.48916	2.723000	0.93209	0.650000	0.86243	ACG		0.423	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308	
HMCN1	83872	broad.mit.edu	37	1	185878606	185878606	+	Silent	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:185878606G>A	ENST00000271588.4	+	5	988	c.759G>A	c.(757-759)ggG>ggA	p.G253G	HMCN1_ENST00000367492.2_Silent_p.G253G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	253					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTGAGTGGGCCTTCTCCAA	0.363																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(757-759)ggG>ggA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							112.0	104.0	107.0					1																	185878606		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185878606G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.759G>A	1.37:g.185878606G>A							p.G253G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			4	988	+			253					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.759G>A	CCDS30956.1																																																																																				0.363	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CACNA1S	779	broad.mit.edu	37	1	201029914	201029914	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:201029914G>T	ENST00000362061.3	-	26	3512	c.3286C>A	c.(3286-3288)Cgc>Agc	p.R1096S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1096S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1096					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCAGTGGGCGGGCCTTCAGG	0.532																																						uc001gvv.3																			0		p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(3286-3288)Cgc>Agc		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						255.0	249.0	251.0					1																	201029914		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201029914G>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3286C>A	1.37:g.201029914G>T	ENSP00000355192:p.Arg1096Ser						p.R1096S	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			25	3513	-			1096					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3286C>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211039	0.58343	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96168	-3.93;-3.85	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.97791	0.9275	M	0.86740	2.835	0.51012	D	0.999905	D	0.63880	0.993	D	0.63192	0.912	D	0.98574	1.0647	10	0.87932	D	0	.	18.6069	0.91270	0.0:0.0:1.0:0.0	.	1096	Q13698	CAC1S_HUMAN	S	1096	ENSP00000355192:R1096S;ENSP00000356307:R1096S	ENSP00000355192:R1096S	R	-	1	0	CACNA1S	199296537	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	9.817000	0.99352	2.545000	0.85829	0.655000	0.94253	CGC		0.532	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
EPRS	2058	broad.mit.edu	37	1	220146600	220146600	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:220146600G>C	ENST00000366923.3	-	29	4493	c.4224C>G	c.(4222-4224)atC>atG	p.I1408M		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1408	Proline--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GGGTGACCTGGATGTCTTCCA	0.423																																						uc001hly.1																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(4222-4224)atC>atG		Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						175.0	166.0	169.0					1																	220146600		2203	4300	6503	SO:0001583	missense	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220146600G>C	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.4224C>G	1.37:g.220146600G>C	ENSP00000355890:p.Ile1408Met					RNU5F-1_uc021pjd.1_Intron	p.I1408M	NM_004446	NP_004437	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	28	4494	-			1408			Prolyl-tRNA synthetase.		A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	ENST00000366923.3	37	c.4224C>G	CCDS31027.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968450	0.74131	.	.	ENSG00000136628	ENST00000366923	T	0.46451	0.87	5.91	5.0	0.66597	Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.73962	2.25	0.58432	D	0.999997	D	0.61080	0.989	P	0.58721	0.844	T	0.62277	-0.6888	10	0.62326	D	0.03	-16.2568	11.1657	0.48541	0.1395:0.0:0.8605:0.0	.	1408	P07814	SYEP_HUMAN	M	1408	ENSP00000355890:I1408M	ENSP00000355890:I1408M	I	-	3	3	EPRS	218213223	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.403000	0.66338	1.507000	0.48752	0.655000	0.94253	ATC		0.423	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446	
ANKRD16	54522	broad.mit.edu	37	10	5929963	5929963	+	Missense_Mutation	SNP	C	C	T	rs537519126	byFrequency	TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:5929963C>T	ENST00000380094.5	-	2	925	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ANKRD16_ENST00000380092.4_Missense_Mutation_p.A128T|FBXO18_ENST00000362091.4_5'Flank|ANKRD16_ENST00000191063.8_Missense_Mutation_p.A128T|FBXO18_ENST00000397269.3_5'Flank	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	128			A -> G (in dbSNP:rs2296136).							breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGTGGATTGGCGCCATGTTCC	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		15446	0.002		0.0	False		,,,				2504	0.0					uc010qat.2																			0		p.A128G(1)|p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						c.(382-384)Gcc>Acc		Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.							142.0	139.0	140.0					10																	5929963		2203	4300	6503	SO:0001583	missense	54522							g.chr10:5929963C>T	AL137614	CCDS31136.1, CCDS31137.1	10p15.1	2013-01-10			ENSG00000134461	ENSG00000134461		"""Ankyrin repeat domain containing"""	23471	protein-coding gene	gene with protein product							Standard	NM_019046		Approved	DKFZP434N1511	uc010qat.2	Q6P6B7	OTTHUMG00000017610	ENST00000380094.5:c.382G>A	10.37:g.5929963C>T	ENSP00000369436:p.Ala128Thr					ANKRD16_uc009xie.3_Missense_Mutation_p.A128T|ANKRD16_uc009xif.3_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.3_Missense_Mutation_p.A128T|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	p.A128T	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN			1	925	-			128		A -> G (in dbSNP:rs2296136).			A6NEF0|F8WEI4|Q9NT01	Missense_Mutation	SNP	ENST00000380094.5	37	c.382G>A	CCDS31136.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465759	0.84425	.	.	ENSG00000134461	ENST00000380094;ENST00000380092;ENST00000191063	T;T;T	0.76186	1.77;1.77;-1.0	4.85	3.93	0.45458	Ankyrin repeat-containing domain (4);	0.053190	0.85682	D	0.000000	D	0.87767	0.6260	M	0.90369	3.11	0.53688	D	0.999974	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.999	D	0.89810	0.3981	10	0.72032	D	0.01	-13.0387	13.3729	0.60723	0.0:0.9211:0.0:0.0789	.	128;128;128	Q6P6B7;C9JP28;F8WEI4	ANR16_HUMAN;.;.	T	128	ENSP00000369436:A128T;ENSP00000369434:A128T;ENSP00000352361:A128T	ENSP00000352361:A128T	A	-	1	0	ANKRD16	5969969	1.000000	0.71417	0.120000	0.21714	0.854000	0.48673	5.710000	0.68392	1.162000	0.42619	0.558000	0.71614	GCC		0.552	ANKRD16-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046611.2	XM_166138	
ERCC6	2074	broad.mit.edu	37	10	50690763	50690763	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:50690763C>T	ENST00000355832.5	-	10	2217	c.2139G>A	c.(2137-2139)atG>atA	p.M713I	ERCC6_ENST00000542458.1_Missense_Mutation_p.M83I	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	713					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATATCCCCCCATGGTGATGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														uc001jhs.4																			0		p.M713T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(2137-2139)atG>atA	Direct reversal of damage;Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.							70.0	67.0	68.0					10																	50690763		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50690763C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.2139G>A	10.37:g.50690763C>T	ENSP00000348089:p.Met713Ile					ERCC6_uc010qgr.2_Missense_Mutation_p.M83I|ERCC6_uc001jhr.4_Missense_Mutation_p.M113I	p.M713I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN			9	2293	-			713					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.2139G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991596	0.74703	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.92911	-3.13;-3.13	5.68	5.68	0.88126	SNF2-related (1);	.	.	.	.	D	0.89763	0.6809	N	0.04959	-0.14	0.80722	D	1	D;B	0.59357	0.985;0.071	P;B	0.61003	0.882;0.18	D	0.88965	0.3396	9	0.23891	T	0.37	-28.2832	17.9728	0.89118	0.0:1.0:0.0:0.0	.	713;122	Q03468;Q59FF6	ERCC6_HUMAN;.	I	713;122;83	ENSP00000348089:M713I;ENSP00000445134:M83I	ENSP00000348089:M713I	M	-	3	0	ERCC6	50360769	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.796000	0.85898	2.693000	0.91896	0.655000	0.94253	ATG		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124	
HECTD2	143279	broad.mit.edu	37	10	93244394	93244394	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:93244394A>G	ENST00000298068.5	+	9	1046	c.952A>G	c.(952-954)Aaa>Gaa	p.K318E	HECTD2_ENST00000371667.1_5'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000446394.1_Missense_Mutation_p.K322E|HECTD2_ENST00000498446.1_3'UTR	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	318					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCAGCCGCTAAAGTGTTGGC	0.333																																					NSCLC(12;376 469 1699 39910 41417)	uc010qnm.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(964-966)Aaa>Gaa		Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.							64.0	68.0	67.0					10																	93244394		2203	4300	6503	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93244394A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.952A>G	10.37:g.93244394A>G	ENSP00000298068:p.Lys318Glu					LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K318E|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	p.K322E	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN			9	1064	+			318					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.964A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.861218	0.91433	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068	T;T	0.38240	1.15;1.15	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.61135	0.2323	M	0.78801	2.425	0.80722	D	1	D;D	0.71674	0.998;0.996	P;D	0.66351	0.821;0.943	T	0.65524	-0.6147	10	0.72032	D	0.01	.	16.3513	0.83213	1.0:0.0:0.0:0.0	.	322;318	E7ERR3;Q5U5R9	.;HECD2_HUMAN	E	322;44;318	ENSP00000401023:K322E;ENSP00000298068:K318E	ENSP00000298068:K318E	K	+	1	0	HECTD2	93234374	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.580000	0.90784	2.252000	0.74401	0.533000	0.62120	AAA		0.333	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1		
NUP98	4928	broad.mit.edu	37	11	3744479	3744479	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:3744479T>C	ENST00000324932.7	-	16	2474	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	NUP98_ENST00000397007.4_Missense_Mutation_p.E702G|NUP98_ENST00000397004.4_Missense_Mutation_p.E685G|NUP98_ENST00000355260.3_Missense_Mutation_p.E685G|NUP98_ENST00000359171.4_Missense_Mutation_p.E685G	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	702					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCTTCCTTCCAGCCCATT	0.433			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.3				Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""		AML		0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66						c.(2053-2055)gAa>gGa		Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.							174.0	148.0	157.0					11																	3744479		2201	4298	6499	SO:0001583	missense	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3744479T>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2054A>G	11.37:g.3744479T>C	ENSP00000316032:p.Glu685Gly					NUP98_uc001lyi.3_Missense_Mutation_p.E685G|NUP98_uc001lyj.2_Missense_Mutation_p.E685G|NUP98_uc001lyk.2_Missense_Mutation_p.E702G	p.E685G	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	15	2475	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	702					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	c.2054A>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444435	0.83993	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.74076	0.3669	M	0.64997	1.995	0.80722	D	1	D;D;D;D	0.89917	1.0;0.991;1.0;1.0	D;P;D;D	0.79108	0.975;0.805;0.992;0.992	T	0.71859	-0.4465	9	0.27082	T	0.32	.	13.3986	0.60870	0.0:0.0:0.0:1.0	.	702;685;685;685	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	G	685;685;685;685;702	.	ENSP00000316032:E685G	E	-	2	0	NUP98	3701055	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.469000	0.73555	1.773000	0.52216	0.477000	0.44152	GAA		0.433	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320	
GALNT18	374378	broad.mit.edu	37	11	11470460	11470460	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:11470460C>T	ENST00000227756.4	-	2	670	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	87					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCGGCCTCTGCCTCCTCAGGC	0.602																																						uc001mjo.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(259-261)Gca>Aca		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.							17.0	19.0	19.0					11																	11470460		2199	4293	6492	SO:0001583	missense	374378					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr11:11470460C>T	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.259G>A	11.37:g.11470460C>T	ENSP00000227756:p.Ala87Thr						p.A87T	NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN		all cancers(16;3.67e-05)|Epithelial(150;0.000184)	1	680	-			87					O95903|Q8NDY9	Missense_Mutation	SNP	ENST00000227756.4	37	c.259G>A	CCDS7807.1	.	.	.	.	.	.	.	.	.	.	C	9.350	1.065389	0.20067	.	.	ENSG00000110328	ENST00000227756	T	0.55413	0.52	5.36	3.17	0.36434	.	0.869986	0.10348	N	0.685463	T	0.21468	0.0517	N	0.02539	-0.55	0.22366	N	0.999164	B	0.02656	0.0	B	0.01281	0.0	T	0.24404	-1.0161	10	0.13853	T	0.58	.	2.7394	0.05249	0.2833:0.5382:0.0:0.1784	.	87	Q6P9A2	GLTL4_HUMAN	T	87	ENSP00000227756:A87T	ENSP00000227756:A87T	A	-	1	0	GALNTL4	11427036	0.889000	0.30405	1.000000	0.80357	0.986000	0.74619	3.267000	0.51577	1.196000	0.43129	0.561000	0.74099	GCA		0.602	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516	
CDC42BPG	55561	broad.mit.edu	37	11	64602005	64602005	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:64602005C>T	ENST00000342711.5	-	19	2219	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S	CDC42BPG_ENST00000491280.1_5'Flank	NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)											central_nervous_system(1)|lung(3)	4						CCAGCCTGGCCGAGGCCTCCA	0.672																																						uc001obs.4																			0				central_nervous_system(1)|lung(3)	4						c.(2218-2220)tcG>tcA		Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.							9.0	10.0	9.0					11																	64602005		2184	4271	6455	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64602005C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.2220G>A	11.37:g.64602005C>T							p.S740S	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			18	2220	-			740						Silent	SNP	ENST00000342711.5	37	c.2220G>A	CCDS31601.1																																																																																				0.672	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516	
CREBZF	58487	broad.mit.edu	37	11	85375510	85375510	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:85375510G>C	ENST00000527447.1	-	1	636	c.410C>G	c.(409-411)tCg>tGg	p.S137W	CREBZF_ENST00000398294.2_Missense_Mutation_p.S55W|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	137					negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCCGCTATCCGAGCCTCCGCC	0.657																																					NSCLC(172;674 2044 9050 18334 41735)	uc001pas.2																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(409-411)tCg>tGg		Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.							27.0	33.0	31.0					11																	85375510		1940	4150	6090	SO:0001583	missense	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375510G>C	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.410C>G	11.37:g.85375510G>C	ENSP00000433459:p.Ser137Trp					CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	p.S137W	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN			0	673	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	137					B2R8Q9|Q0P5U9|Q52LT3	Missense_Mutation	SNP	ENST00000527447.1	37	c.410C>G	CCDS41697.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126517	0.77549	.	.	ENSG00000137504	ENST00000398294;ENST00000527447	.	.	.	4.41	4.41	0.53225	.	0.143211	0.30704	N	0.009058	T	0.54902	0.1887	N	0.19112	0.55	0.51233	D	0.999915	D	0.76494	0.999	D	0.79108	0.992	T	0.52185	-0.8609	8	.	.	.	-14.9531	12.3863	0.55335	0.0:0.0:1.0:0.0	.	137	Q9NS37	ZHANG_HUMAN	W	55;137	.	.	S	-	2	0	CREBZF	85053158	1.000000	0.71417	0.951000	0.38953	0.990000	0.78478	4.432000	0.59922	2.289000	0.77006	0.561000	0.74099	TCG		0.657	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618	
RPL13AP20	387841	broad.mit.edu	37	12	13028826	13028826	+	IGR	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:13028826G>A								DDX47 (45911 upstream) : GPRC5A (14889 downstream)																							TCTGAAGCCTGCAAGAAAGTT	0.567																																						uc010sho.2																			0											c.(394-396)Gca>Aca		Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																																				SO:0001628	intergenic_variant	387841							g.chr12:13028826G>A																													12.37:g.13028826G>A							p.A132T							0	416	+									Missense_Mutation	SNP		37	c.394G>A																																																																																				0	0.567								
C12orf60	144608	broad.mit.edu	37	12	14975979	14975979	+	Missense_Mutation	SNP	T	T	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:14975979T>G	ENST00000330828.2	+	2	314	c.110T>G	c.(109-111)tTt>tGt	p.F37C	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	37										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTGAATTGTTTAGCCGCAGT	0.343																																						uc001rcj.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						c.(109-111)tTt>tGt		Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.							83.0	82.0	82.0					12																	14975979		2203	4300	6503	SO:0001583	missense	144608							g.chr12:14975979T>G	BC038836	CCDS8667.1	12p12.3	2012-08-16			ENSG00000182993	ENSG00000182993			28726	protein-coding gene	gene with protein product						12477932	Standard	NM_175874		Approved	MGC47869	uc001rcj.4	Q5U649	OTTHUMG00000167473	ENST00000330828.2:c.110T>G	12.37:g.14975979T>G	ENSP00000331691:p.Phe37Cys					C12orf60_uc021qvq.1_Missense_Mutation_p.F37C	p.F37C	NM_175874	NP_787070	Q5U649	CL060_HUMAN			1	314	+			37					A8K1M7|Q5XKK8|Q8IXY2	Missense_Mutation	SNP	ENST00000330828.2	37	c.110T>G	CCDS8667.1	.	.	.	.	.	.	.	.	.	.	T	14.17	2.455329	0.43634	.	.	ENSG00000182993	ENST00000330828	T	0.18016	2.24	5.19	2.83	0.33086	.	0.307884	0.23859	N	0.043875	T	0.11965	0.0291	L	0.36672	1.1	0.09310	N	1	B	0.32051	0.354	B	0.29716	0.106	T	0.20075	-1.0286	10	0.72032	D	0.01	-6.2163	5.6185	0.17444	0.1704:0.0:0.1783:0.6513	.	37	Q5U649	CL060_HUMAN	C	37	ENSP00000331691:F37C	ENSP00000331691:F37C	F	+	2	0	C12orf60	14867246	0.738000	0.28186	0.014000	0.15608	0.009000	0.06853	1.338000	0.33873	0.430000	0.26230	0.459000	0.35465	TTT		0.343	C12orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394735.1	NM_175874	
LEMD3	23592	broad.mit.edu	37	12	65632357	65632357	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:65632357A>G	ENST00000308330.2	+	5	1797	c.1771A>G	c.(1771-1773)Ata>Gta	p.I591V		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	591					negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGATGTTGGAATAAGGTAAAG	0.313																																						uc001ssl.2																			0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1771-1773)Ata>Gta		Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.							66.0	65.0	65.0					12																	65632357		2203	4300	6503	SO:0001583	missense	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65632357A>G	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	ENST00000308330.2:c.1771A>G	12.37:g.65632357A>G	ENSP00000308369:p.Ile591Val					LEMD3_uc009zqo.2_Missense_Mutation_p.I590V	p.I591V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	4	1797	+			591					Q9NT47|Q9NYA5	Missense_Mutation	SNP	ENST00000308330.2	37	c.1771A>G	CCDS8972.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.015148	0.75161	.	.	ENSG00000174106	ENST00000308330	T	0.58652	0.32	4.88	4.88	0.63580	Inner nuclear membrane protein MAN1 (1);	0.048960	0.85682	D	0.000000	T	0.73110	0.3545	M	0.71581	2.175	0.80722	D	1	D	0.61697	0.99	D	0.67548	0.952	T	0.74520	-0.3638	9	.	.	.	-13.4675	15.2018	0.73142	1.0:0.0:0.0:0.0	.	591	Q9Y2U8	MAN1_HUMAN	V	591	ENSP00000308369:I591V	.	I	+	1	0	LEMD3	63918624	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.766000	0.74970	2.140000	0.66376	0.528000	0.53228	ATA		0.313	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2		
ANO4	121601	broad.mit.edu	37	12	101480543	101480543	+	Missense_Mutation	SNP	G	G	C	rs200715860		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:101480543G>C	ENST00000392977.3	+	17	1852	c.1642G>C	c.(1642-1644)Gtt>Ctt	p.V548L	ANO4_ENST00000299222.9_Missense_Mutation_p.V68L|ANO4_ENST00000392979.3_Missense_Mutation_p.V513L|ANO4_ENST00000550015.1_Missense_Mutation_p.V68L			Q32M45	ANO4_HUMAN	anoctamin 4	548					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAACTCTCAGGTTGCAACCAC	0.493										HNSCC(74;0.22)																												uc010svm.1																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						c.(1642-1644)Gtt>Ctt		Homo sapiens anoctamin 4 (ANO4), mRNA.							265.0	216.0	232.0					12																	101480543		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101480543G>C	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1642G>C	12.37:g.101480543G>C	ENSP00000376703:p.Val548Leu	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	p.V548L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			16	2214	+			548					Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1642G>C		.	.	.	.	.	.	.	.	.	.	G	10.91	1.485124	0.26598	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000001	T	0.44953	0.1318	N	0.02736	-0.51	0.53005	D	0.999965	B;P;B	0.34815	0.08;0.47;0.199	B;B;B	0.43445	0.108;0.42;0.193	T	0.44221	-0.9342	10	0.05721	T	0.95	.	19.7859	0.96437	0.0:0.0:1.0:0.0	.	68;548;513	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	L	513;68;548;68	ENSP00000376705:V513L;ENSP00000299222:V68L;ENSP00000376703:V548L;ENSP00000450192:V68L	ENSP00000299222:V68L	V	+	1	0	ANO4	100004674	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.920000	0.48844	2.746000	0.94184	0.655000	0.94253	GTT		0.493	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826	
MPHOSPH8	54737	broad.mit.edu	37	13	20233374	20233374	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:20233374A>G	ENST00000361479.5	+	7	1804	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Y579C	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	579					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AATGGGGATTATATTACTGTA	0.284																																						uc001umh.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1735-1737)tAt>tGt		Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.							70.0	74.0	72.0					13																	20233374		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20233374A>G	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1736A>G	13.37:g.20233374A>G	ENSP00000355388:p.Tyr579Cys					MPHOSPH8_uc001umg.3_Missense_Mutation_p.Y579C	p.Y579C	NM_017520	NP_059990	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	6	1837	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	579					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.1736A>G	CCDS9287.1	.	.	.	.	.	.	.	.	.	.	A	20.7	4.028442	0.75390	.	.	ENSG00000196199	ENST00000414242;ENST00000361479	T;T	0.66099	-0.19;-0.19	5.19	5.19	0.71726	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.72269	0.3439	L	0.41079	1.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75311	-0.3362	10	0.72032	D	0.01	.	15.347	0.74346	1.0:0.0:0.0:0.0	.	579;579	Q99549;Q99549-2	MPP8_HUMAN;.	C	579	ENSP00000414663:Y579C;ENSP00000355388:Y579C	ENSP00000355388:Y579C	Y	+	2	0	MPHOSPH8	19131374	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.518000	0.90559	2.075000	0.62263	0.459000	0.35465	TAT		0.284	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520	
PAN3	255967	broad.mit.edu	37	13	28794497	28794497	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:28794497A>G	ENST00000380958.3	+	6	1134	c.982A>G	c.(982-984)Act>Gct	p.T328A	PAN3_ENST00000399613.1_Missense_Mutation_p.T128A	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGCCCTGCTACTGCTGGATT	0.438																																						uc001urz.3																			0		p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(982-984)Act>Gct		Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.							178.0	178.0	178.0					13																	28794497		2203	4300	6503	SO:0001583	missense	255967				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	g.chr13:28794497A>G	AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.982A>G	13.37:g.28794497A>G	ENSP00000370345:p.Thr328Ala					PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.T128A	p.T328A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)	5	1134	+	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	328			Interaction with polyadenylate-binding protein.			Missense_Mutation	SNP	ENST00000380958.3	37	c.982A>G	CCDS9329.2	.	.	.	.	.	.	.	.	.	.	A	0.886	-0.727224	0.03158	.	.	ENSG00000152520	ENST00000380958;ENST00000399613	T;T	0.40756	1.03;1.02	5.23	0.985	0.19779	.	0.463284	0.25484	N	0.030349	T	0.13970	0.0338	N	0.02539	-0.55	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.33369	-0.9871	10	0.02654	T	1	-3.0562	10.2579	0.43408	0.5512:0.0:0.4488:0.0	.	328;328;274	Q58A45-4;Q58A45;Q58A45-3	.;PAN3_HUMAN;.	A	328;128	ENSP00000370345:T328A;ENSP00000382522:T128A	ENSP00000370345:T328A	T	+	1	0	PAN3	27692497	0.996000	0.38824	0.998000	0.56505	0.961000	0.63080	0.502000	0.22594	0.285000	0.22329	-0.388000	0.06559	ACT		0.438	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044318.4	NM_175854	
FRY	10129	broad.mit.edu	37	13	32808846	32808846	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:32808846A>G	ENST00000380250.3	+	42	6159	c.5663A>G	c.(5662-5664)gAc>gGc	p.D1888G		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1888						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCTTATCTGACCTTCTCTCA	0.517																																						uc001utx.3																			0				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132						c.(5662-5664)gAc>gGc		Homo sapiens furry homolog (Drosophila) (FRY), mRNA.							97.0	94.0	95.0					13																	32808846		1990	4175	6165	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32808846A>G	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.5663A>G	13.37:g.32808846A>G	ENSP00000369600:p.Asp1888Gly					FRY_uc010tdw.2_Non-coding_Transcript	p.D1888G	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	41	6159	+		Lung SC(185;0.0271)	1888					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.5663A>G	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	A	16.20	3.055006	0.55325	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.29142	1.58	6.07	6.07	0.98685	.	0.048598	0.85682	D	0.000000	T	0.41971	0.1182	M	0.79805	2.47	0.80722	D	1	B	0.19073	0.033	B	0.23018	0.043	T	0.34079	-0.9843	10	0.72032	D	0.01	.	16.6277	0.84984	1.0:0.0:0.0:0.0	.	1888	Q5TBA9	FRY_HUMAN	G	1888;725	ENSP00000369600:D1888G	ENSP00000369600:D1888G	D	+	2	0	FRY	31706846	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.093000	0.71422	2.330000	0.79161	0.528000	0.53228	GAC		0.517	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037	
RAP2A	5911	broad.mit.edu	37	13	98086962	98086962	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:98086962C>G	ENST00000245304.4	+	1	487	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	80					actin cytoskeleton reorganization (GO:0031532)|cellular protein localization (GO:0034613)|establishment of protein localization (GO:0045184)|negative regulation of cell migration (GO:0030336)|positive regulation of protein autophosphorylation (GO:0031954)|Rap protein signal transduction (GO:0032486)|regulation of dendrite morphogenesis (GO:0048814)|regulation of JNK cascade (GO:0046328)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|recycling endosome (GO:0055037)|recycling endosome membrane (GO:0055038)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GGGCTTCATCCTCGTCTACAG	0.632																																						uc001vnd.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(238-240)Ctc>Gtc		Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.							101.0	92.0	95.0					13																	98086962		2203	4300	6503	SO:0001583	missense	5911				actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding	g.chr13:98086962C>G	AF205602	CCDS9485.1	13q34	2014-05-09			ENSG00000125249	ENSG00000125249			9861	protein-coding gene	gene with protein product		179540		RAP2			Standard	NM_021033		Approved	K-REV	uc001vnd.3	P10114	OTTHUMG00000017240	ENST00000245304.4:c.238C>G	13.37:g.98086962C>G	ENSP00000245304:p.Leu80Val						p.L80V	NM_021033	NP_066361	P10114	RAP2A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.166)		0	488	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		80					B2RCJ1|Q5JSC1|Q5JSC2	Missense_Mutation	SNP	ENST00000245304.4	37	c.238C>G	CCDS9485.1	.	.	.	.	.	.	.	.	.	.	C	15.42	2.827631	0.50845	.	.	ENSG00000125249	ENST00000245304	T	0.79247	-1.25	3.19	3.19	0.36642	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000001	T	0.76111	0.3942	L	0.55834	1.745	0.80722	D	1	B	0.21821	0.061	B	0.32724	0.151	T	0.78036	-0.2361	10	0.66056	D	0.02	.	14.9176	0.70810	0.0:1.0:0.0:0.0	.	80	P10114	RAP2A_HUMAN	V	80	ENSP00000245304:L80V	ENSP00000245304:L80V	L	+	1	0	RAP2A	96884963	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.566000	0.67372	1.816000	0.52996	0.484000	0.47621	CTC		0.632	RAP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045528.4		
APEX1	328	broad.mit.edu	37	14	20922812	20922812	+	5'Flank	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:20922812C>T	ENST00000216714.3	+	0	0				OSGEP_ENST00000556252.1_5'UTR|APEX1_ENST00000557054.1_5'Flank|OSGEP_ENST00000206542.4_Missense_Mutation_p.A11T|RP11-203M5.7_ENST00000555435.1_RNA|APEX1_ENST00000398030.4_5'Flank|APEX1_ENST00000555414.1_5'Flank	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1						aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	ATCTTATTGGCGCTGCCTTCA	0.632								Other BER factors																														uc001vxf.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11						c.(31-33)Gcc>Acc		Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.							43.0	46.0	45.0					14																	20922812		2203	4295	6498	SO:0001631	upstream_gene_variant	55644				proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding	g.chr14:20922812C>T	X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544		14.37:g.20922812C>T	Exception_encountered					APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	p.A11T	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)	0	456	-	all_cancers(95;0.00123)	all_lung(585;0.235)	11					Q969L5|Q99775	Missense_Mutation	SNP	ENST00000216714.3	37	c.31G>A	CCDS9550.1	.	.	.	.	.	.	.	.	.	.	C	37	6.261000	0.97421	.	.	ENSG00000092094	ENST00000206542;ENST00000553640;ENST00000488532	T;T	0.52983	2.67;0.64	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	D	0.87339	0.2330	10	0.87932	D	0	-20.3609	18.6545	0.91445	0.0:1.0:0.0:0.0	.	11	Q9NPF4	OSGEP_HUMAN	T	11	ENSP00000206542:A11T;ENSP00000450507:A11T	ENSP00000206542:A11T	A	-	1	0	OSGEP	19992652	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.911000	0.75746	2.941000	0.99782	0.655000	0.94253	GCC		0.632	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073641.3	NM_001641	
LRRC74A	145497	broad.mit.edu	37	14	77292858	77292858	+	Nonsense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:77292858C>G	ENST00000393774.3	+	1	144	c.20C>G	c.(19-21)tCa>tGa	p.S7*	C14orf166B_ENST00000450042.2_5'UTR|C14orf166B_ENST00000216453.5_5'Flank|C14orf166B_ENST00000460005.1_3'UTR	NM_194287.2	NP_919263.2														breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAATTCCCATCAAAGCCTACT	0.547																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18						c.(19-21)tCa>tGa		Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.							68.0	71.0	70.0					14																	77292858		692	1591	2283	SO:0001587	stop_gained	145497							g.chr14:77292858C>G																												ENST00000393774.3:c.20C>G	14.37:g.77292858C>G	ENSP00000377369:p.Ser7*					C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript	p.S7*	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	0	134	+			7						Nonsense_Mutation	SNP	ENST00000393774.3	37	c.20C>G	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.317329	0.40996	.	.	ENSG00000100565	ENST00000393774;ENST00000555189	.	.	.	5.23	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.21220	N	0.999758	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	9.3799	0.38306	0.2677:0.7323:0.0:0.0	.	.	.	.	X	7	.	ENSP00000216450:S7X	S	+	2	0	C14orf166B	76362611	0.105000	0.21958	0.014000	0.15608	0.034000	0.12701	2.062000	0.41413	2.463000	0.83235	0.467000	0.42956	TCA		0.547	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1		
HERC2	8924	broad.mit.edu	37	15	28474893	28474893	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:28474893C>A	ENST00000261609.7	-	32	5018	c.4910G>T	c.(4909-4911)aGt>aTt	p.S1637I		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(4909-4911)aGt>aTt		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							96.0	108.0	104.0					15																	28474893		2201	4296	6497	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28474893C>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4910G>T	15.37:g.28474893C>A	ENSP00000261609:p.Ser1637Ile						p.S1637I	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	31	5016	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	1637						Missense_Mutation	SNP	ENST00000261609.7	37	c.4910G>T	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755907	0.31046	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	4.24	3.31	0.37934	.	0.488214	0.23708	N	0.045344	T	0.28333	0.0700	L	0.29908	0.895	0.28572	N	0.910564	B	0.06786	0.001	B	0.04013	0.001	T	0.14448	-1.0472	10	0.35671	T	0.21	.	8.5961	0.33716	0.0:0.7903:0.0:0.2097	.	1637	O95714	HERC2_HUMAN	I	1637	ENSP00000261609:S1637I	ENSP00000261609:S1637I	S	-	2	0	HERC2	26148488	1.000000	0.71417	0.926000	0.36857	0.859000	0.49053	1.171000	0.31896	0.973000	0.38340	0.555000	0.69702	AGT		0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
MYO1E	4643	broad.mit.edu	37	15	59502739	59502739	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:59502739C>G	ENST00000288235.4	-	13	1735	c.1336G>C	c.(1336-1338)Gta>Cta	p.V446L	RNU4-80P_ENST00000363200.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	446	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGTCACATACGATTTTATTA	0.348																																						uc002aga.3																			0		p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(1336-1338)Gta>Cta		Homo sapiens myosin IE (MYO1E), mRNA.							195.0	186.0	189.0					15																	59502739		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59502739C>G	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1336G>C	15.37:g.59502739C>G	ENSP00000288235:p.Val446Leu						p.V446L	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	12	1708	-			446			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.1336G>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892406	0.91889	.	.	ENSG00000157483	ENST00000288235	D	0.95588	-3.75	5.36	5.36	0.76844	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.97971	0.9332	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98450	1.0591	10	0.87932	D	0	.	19.2753	0.94029	0.0:1.0:0.0:0.0	.	446	Q12965	MYO1E_HUMAN	L	446	ENSP00000288235:V446L	ENSP00000288235:V446L	V	-	1	0	MYO1E	57290031	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.625000	0.83145	2.797000	0.96272	0.561000	0.74099	GTA		0.348	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998	
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						uc002cdi.3																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						c.(748-750)ccG>ccT		Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.																																						374666							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T						WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript	p.P250P							10	2170	+									Silent	SNP	ENST00000557932.1	37	c.750G>T																																																																																					0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163	
C16orf59	80178	broad.mit.edu	37	16	2512205	2512205	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:2512205G>A	ENST00000361837.4	+	6	780	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	C16orf59_ENST00000563531.1_Missense_Mutation_p.A239T|C16orf59_ENST00000569496.1_Missense_Mutation_p.A239T|RP11-715J22.4_ENST00000566085.1_lincRNA|RP11-715J22.2_ENST00000563775.1_RNA|C16orf59_ENST00000483320.1_Missense_Mutation_p.A72T	NM_025108.2	NP_079384.2	Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	239										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGCCGCCGCTGCCAAAACCCA	0.612																																						uc002cqh.3																			0				lung(1)|skin(1)|urinary_tract(1)	3						c.(715-717)Gcc>Acc		Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.							50.0	53.0	52.0					16																	2512205		1985	4158	6143	SO:0001583	missense	80178							g.chr16:2512205G>A	AK023971	CCDS10468.2	16p13.3	2008-10-30			ENSG00000162062	ENSG00000162062			25849	protein-coding gene	gene with protein product						12477932	Standard	XM_006720955		Approved	FLJ13909	uc002cqh.3	Q7L2K0	OTTHUMG00000128859	ENST00000361837.4:c.715G>A	16.37:g.2512205G>A	ENSP00000355022:p.Ala239Thr					C16orf59_uc002cqg.2_Missense_Mutation_p.A72T|C16orf59_uc002cqi.3_Missense_Mutation_p.A72T|C16orf59_uc010uwb.2_Missense_Mutation_p.A72T	p.A239T	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN			5	746	+		Ovarian(90;0.17)	239					B4DXD7|Q96H61|Q9H872	Missense_Mutation	SNP	ENST00000361837.4	37	c.715G>A	CCDS10468.2	.	.	.	.	.	.	.	.	.	.	G	9.516	1.107089	0.20714	.	.	ENSG00000162062	ENST00000361837	T	0.53423	0.62	4.0	1.9	0.25705	.	0.295217	0.23904	N	0.043405	T	0.44030	0.1274	L	0.54323	1.7	0.22226	N	0.999276	P;P;P;P	0.52061	0.95;0.484;0.484;0.484	P;B;B;B	0.49502	0.613;0.207;0.241;0.147	T	0.24261	-1.0165	10	0.33141	T	0.24	-7.315	4.9922	0.14220	0.111:0.0:0.6572:0.2318	.	72;239;72;72	Q7L2K0-3;Q7L2K0;D3DU95;Q7L2K0-2	.;CP059_HUMAN;.;.	T	239	ENSP00000355022:A239T	ENSP00000355022:A239T	A	+	1	0	C16orf59	2452206	0.613000	0.27009	0.073000	0.20177	0.067000	0.16453	1.586000	0.36611	0.388000	0.25054	0.655000	0.94253	GCC		0.612	C16orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250802.3	NM_025108	
TMC5	79838	broad.mit.edu	37	16	19477522	19477522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:19477522G>A	ENST00000396229.2	+	9	2353	c.1604G>A	c.(1603-1605)tGc>tAc	p.C535Y	TMC5_ENST00000561503.1_Missense_Mutation_p.C176Y|TMC5_ENST00000381414.4_Missense_Mutation_p.C535Y|TMC5_ENST00000541464.1_Missense_Mutation_p.C535Y|TMC5_ENST00000542583.2_Missense_Mutation_p.C535Y|TMC5_ENST00000219821.5_Missense_Mutation_p.C289Y|TMC5_ENST00000564959.1_Missense_Mutation_p.C218Y	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	535					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCGGAGCATGCTTGACCACC	0.458																																						uc002dgc.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(1603-1605)tGc>tAc		Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.							190.0	143.0	159.0					16																	19477522		2197	4300	6497	SO:0001583	missense	79838					integral to membrane		g.chr16:19477522G>A	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.1604G>A	16.37:g.19477522G>A	ENSP00000379531:p.Cys535Tyr					TMC5_uc010vaq.2_Missense_Mutation_p.C535Y|TMC5_uc002dgb.4_Missense_Mutation_p.C535Y|TMC5_uc010var.2_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.4_Missense_Mutation_p.C289Y|TMC5_uc002dgf.4_Missense_Mutation_p.C218Y|TMC5_uc002dgg.4_Missense_Mutation_p.C176Y	p.C535Y	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN			8	2353	+			535					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.1604G>A	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	G	0.006	-2.094535	0.00364	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.3	3.06	0.35304	.	0.054497	0.85682	D	0.000000	T	0.17704	0.0425	N	0.04636	-0.2	0.32418	N	0.549732	B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.002;0.004	B;B;B;B;B;B	0.09377	0.004;0.001;0.002;0.001;0.001;0.004	T	0.11084	-1.0602	10	0.11182	T	0.66	-16.2195	2.3601	0.04305	0.2902:0.3176:0.3922:0.0	.	535;218;289;289;535;535	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	Y	535;535;535;535;289;218	ENSP00000441227:C535Y;ENSP00000370822:C535Y;ENSP00000379531:C535Y;ENSP00000446274:C535Y;ENSP00000219821:C289Y	ENSP00000219821:C289Y	C	+	2	0	TMC5	19385023	1.000000	0.71417	0.007000	0.13788	0.008000	0.06430	3.230000	0.51286	1.194000	0.43101	0.555000	0.69702	TGC		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780	
SCNN1B	6338	broad.mit.edu	37	16	23360058	23360058	+	Silent	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:23360058C>A	ENST00000343070.2	+	2	314	c.138C>A	c.(136-138)ccC>ccA	p.P46P	SCNN1B_ENST00000569789.1_3'UTR|SCNN1B_ENST00000307331.5_Silent_p.P91P|SCNN1B_ENST00000568085.1_Silent_p.P46P|SCNN1B_ENST00000568923.1_Silent_p.P46P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	46					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTGAGGGGCCCAAGAAGAAAG	0.612																																						uc002dln.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(136-138)ccC>ccA		Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	Amiloride(DB00594)|Triamterene(DB00384)						77.0	66.0	69.0					16																	23360058		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23360058C>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.138C>A	16.37:g.23360058C>A							p.P46P	NM_000336	NP_000327	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	1	314	+			46					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.138C>A	CCDS10609.1																																																																																				0.612	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
OR1A2	26189	broad.mit.edu	37	17	3101531	3101531	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:3101531G>C	ENST00000381951.1	+	1	719	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	240					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTGCACCTGTGGCTCCCAC	0.438																																						uc002fvd.1																			0				breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(718-720)tGt>tCt		Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.							127.0	123.0	124.0					17																	3101531		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101531G>C	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.719G>C	17.37:g.3101531G>C	ENSP00000371377:p.Cys240Ser						p.C240S	NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN			0	719	+			240					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.719G>C	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129039	0.37533	.	.	ENSG00000172150	ENST00000381951	T	0.00369	7.74	4.0	3.01	0.34805	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000051	T	0.01421	0.0046	H	0.96691	3.865	0.29333	N	0.866542	D	0.89917	1.0	D	0.91635	0.999	T	0.05451	-1.0884	10	0.87932	D	0	.	8.0891	0.30790	0.0:0.1745:0.6454:0.1801	.	240	Q9Y585	OR1A2_HUMAN	S	240	ENSP00000371377:C240S	ENSP00000371377:C240S	C	+	2	0	OR1A2	3048281	1.000000	0.71417	0.972000	0.41901	0.248000	0.25809	8.536000	0.90627	1.006000	0.39211	0.543000	0.68304	TGT		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
DLG4	1742	broad.mit.edu	37	17	7099833	7099833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7099833G>A	ENST00000399506.2	-	10	1336	c.1145C>T	c.(1144-1146)gCg>gTg	p.A382V	DLG4_ENST00000302955.6_Missense_Mutation_p.A379V|DLG4_ENST00000399510.2_Missense_Mutation_p.A425V			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	382	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGTCTGACCCGCATTCTTCAG	0.542																																						uc010vtn.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						c.(964-966)gCg>gTg		Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.							73.0	71.0	72.0					17																	7099833		2101	4235	6336	SO:0001583	missense	1742				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	g.chr17:7099833G>A	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1145C>T	17.37:g.7099833G>A	ENSP00000382425:p.Ala382Val					DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A379V|DLG4_uc002get.4_Missense_Mutation_p.A425V|DLG4_uc010vto.2_Missense_Mutation_p.A422V	p.A322V	NM_001128827	NP_001122299	P78352	DLG4_HUMAN			8	1225	-			382			PDZ 3.		B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	37	c.965C>T		.	.	.	.	.	.	.	.	.	.	G	27.4	4.825725	0.90955	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.29142	1.58;1.58;1.58	4.28	4.28	0.50868	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.48822	0.1521	L	0.55834	1.745	0.80722	D	1	P;D;D;D	0.64830	0.94;0.988;0.969;0.994	P;D;P;P	0.71184	0.734;0.972;0.698;0.794	T	0.47209	-0.9135	9	0.51188	T	0.08	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	422;382;379;425	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	V	382;379;425;425;322;425	ENSP00000382425:A382V;ENSP00000307471:A379V;ENSP00000382428:A425V	ENSP00000293813:A425V	A	-	2	0	DLG4	7040557	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	7.301000	0.78850	2.210000	0.71456	0.563000	0.77884	GCG		0.542	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SRSF1	6426	broad.mit.edu	37	17	56083327	56083327	+	Silent	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:56083327A>G	ENST00000258962.4	-	3	595	c.387T>C	c.(385-387)ccT>ccC	p.P129P	RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000582730.2_Silent_p.P129P|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000584773.1_Silent_p.P129P	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	129	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTCCACTTGGAGGCAGTCCTG	0.388																																						uc002ivi.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(385-387)ccT>ccC		Homo sapiens serine/arginine-rich splicing factor 1 (SRSF1), transcript variant 1, mRNA.							70.0	58.0	62.0					17																	56083327		2203	4300	6503	SO:0001819	synonymous_variant	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083327A>G		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.387T>C	17.37:g.56083327A>G						SRSF1_uc002ivj.3_Silent_p.P129P	p.P129P	NM_006924	NP_008855	Q07955	SRSF1_HUMAN			2	596	-			129			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Silent	SNP	ENST00000258962.4	37	c.387T>C	CCDS11600.1																																																																																				0.388	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924	
KCNH6	81033	broad.mit.edu	37	17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	rs376994110		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:61613357G>A	ENST00000583023.1	+	6	1440	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_ENST00000581784.1_Missense_Mutation_p.V424M|KCNH6_ENST00000314672.5_Missense_Mutation_p.V477M|KCNH6_ENST00000456941.2_Missense_Mutation_p.V424M|KCNH6_ENST00000580652.1_Missense_Mutation_p.V477M	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	477					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCTCACCAGCGTGGGCTTCGG	0.602																																						uc002jay.3																			0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1429-1431)Gtg>Atg		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	Ibutilide(DB00308)	G	MET/VAL,MET/VAL	0,4406		0,0,2203	84.0	64.0	71.0		1429,1270	4.4	1.0	17		71	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KCNH6	NM_030779.2,NM_173092.1	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	477/995,424/906	61613357	1,13005	2203	4300	6503	SO:0001583	missense	81033				regulation of transcription, DNA-dependent|signal transduction			g.chr17:61613357G>A	AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1429G>A	17.37:g.61613357G>A	ENSP00000463533:p.Val477Met					KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	p.V477M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN			5	1509	+			477					Q9BRD7	Missense_Mutation	SNP	ENST00000583023.1	37	c.1429G>A	CCDS11638.1	.	.	.	.	.	.	.	.	.	.	G	12.95	2.092733	0.36952	0.0	1.16E-4	ENSG00000173826	ENST00000314672;ENST00000456941	D;D	0.98249	-4.82;-4.82	4.36	4.36	0.52297	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99130	0.9700	M	0.91196	3.185	0.46260	D	0.998955	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.996;0.999;0.993;0.994	D	0.99312	1.0904	10	0.87932	D	0	.	17.0722	0.86577	0.0:0.0:1.0:0.0	.	354;477;424;477;477	B4DPJ3;B4DKC0;Q9H252-2;Q9H252;Q9H252-3	.;.;.;KCNH6_HUMAN;.	M	477;424	ENSP00000318212:V477M;ENSP00000396900:V424M	ENSP00000318212:V477M	V	+	1	0	KCNH6	58967089	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	9.657000	0.98554	2.244000	0.73946	0.313000	0.20887	GTG		0.602	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443853.1	NM_030779	
FAM20A	54757	broad.mit.edu	37	17	66551780	66551780	+	Missense_Mutation	SNP	C	C	T	rs200466905		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:66551780C>T	ENST00000592554.1	-	2	1231	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FAM20A_ENST00000226094.5_5'UTR|RP11-120M18.5_ENST00000589826.1_lincRNA	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	170					calcium ion homeostasis (GO:0055074)|enamel mineralization (GO:0070166)|tooth eruption (GO:0044691)	cell (GO:0005623)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAGCCCATGGCGGTTAATACC	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18773	0.001		0.0	False		,,,				2504	0.0					uc002jho.3																			0				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9						c.(508-510)cGc>cAc		Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.							84.0	80.0	81.0					17																	66551780		2203	4300	6503	SO:0001583	missense	54757					extracellular region		g.chr17:66551780C>T	AK056789	CCDS11679.1	17q24.2	2014-02-07			ENSG00000108950	ENSG00000108950			23015	protein-coding gene	gene with protein product		611062					Standard	NM_017565		Approved	DKFZp434F2322	uc002jho.3	Q96MK3	OTTHUMG00000180152	ENST00000592554.1:c.509G>A	17.37:g.66551780C>T	ENSP00000468308:p.Arg170His					FAM20A_uc010wqp.2_Missense_Mutation_p.R32H|FAM20A_uc002jhn.3_5'UTR	p.R170H	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN			1	797	-	Breast(10;1.64e-13)		170					B2RN47|B2RN49|Q9UF95	Missense_Mutation	SNP	ENST00000592554.1	37	c.509G>A	CCDS11679.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	25.2	4.609802	0.87258	.	.	ENSG00000108950	ENST00000226094	.	.	.	5.97	5.97	0.96955	.	0.099386	0.64402	D	0.000001	T	0.73321	0.3572	M	0.79011	2.435	0.40498	D	0.980614	D	0.57571	0.98	P	0.50231	0.635	T	0.77523	-0.2556	9	0.72032	D	0.01	-22.3925	18.201	0.89838	0.0:1.0:0.0:0.0	.	170	Q96MK3	FA20A_HUMAN	H	170	.	ENSP00000226094:R170H	R	-	2	0	FAM20A	64063375	1.000000	0.71417	0.990000	0.47175	0.659000	0.38960	5.972000	0.70448	2.837000	0.97791	0.655000	0.94253	CGC		0.562	FAM20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450029.2	NM_017565	
DSC2	1824	broad.mit.edu	37	18	28654745	28654745	+	Missense_Mutation	SNP	C	C	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:28654745C>G	ENST00000280904.6	-	12	2235	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	DSC2_ENST00000251081.6_Missense_Mutation_p.D598H|snoU13_ENST00000459603.1_RNA	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATCAGGATCAACCGCAACA	0.428																																						uc002kwl.4																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(1792-1794)Gat>Cat		Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.							150.0	125.0	134.0					18																	28654745		2203	4300	6503	SO:0001583	missense	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28654745C>G	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.1792G>C	18.37:g.28654745C>G	ENSP00000280904:p.Asp598His					DSC2_uc002kwk.4_Missense_Mutation_p.D598H	p.D598H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		11	2246	-			598			Cadherin 5.			Missense_Mutation	SNP	ENST00000280904.6	37	c.1792G>C	CCDS11892.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.746177	0.49151	.	.	ENSG00000134755	ENST00000251081;ENST00000280904;ENST00000438199;ENST00000399347	T;T	0.78246	-1.16;-1.16	5.27	5.27	0.74061	Cadherin (2);Cadherin-like (1);	0.000000	0.33346	N	0.005020	D	0.89976	0.6871	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77557	0.981;0.99	D	0.91798	0.5449	10	0.87932	D	0	.	16.1756	0.81847	0.0:1.0:0.0:0.0	.	598;598	Q02487;Q02487-2	DSC2_HUMAN;.	H	598;598;364;611	ENSP00000251081:D598H;ENSP00000280904:D598H	ENSP00000251081:D598H	D	-	1	0	DSC2	26908743	0.997000	0.39634	0.379000	0.26080	0.098000	0.18820	4.733000	0.62036	2.614000	0.88457	0.655000	0.94253	GAT		0.428	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
GALNT1	2589	broad.mit.edu	37	18	33234759	33234759	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:33234759G>A	ENST00000269195.5	+	1	236	c.133G>A	c.(133-135)Gga>Aga	p.G45R	GALNT1_ENST00000591081.1_Missense_Mutation_p.G45R|GALNT1_ENST00000537549.1_5'UTR	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	polypeptide N-acetylgalactosaminyltransferase 1	45					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACTTCCTGCTGGAGATGGTGA	0.338																																						uc010dmu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						c.(133-135)Gga>Aga		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.							107.0	102.0	104.0					18																	33234759		2203	4300	6503	SO:0001583	missense	2589				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr18:33234759G>A		CCDS11915.1	18q12.1	2014-03-13	2014-03-13		ENSG00000141429	ENSG00000141429	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4123	protein-coding gene	gene with protein product	"""protein-UDP acetylgalactosaminyltransferase 1"", ""polypeptide GalNAc transferase 1"""	602273	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)"""			7592619, 12199709	Standard	NM_020474		Approved	GalNAc-T1	uc002kzb.3	Q10472	OTTHUMG00000132567	ENST00000269195.5:c.133G>A	18.37:g.33234759G>A	ENSP00000269195:p.Gly45Arg					GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.G45R|GALNT1_uc002kzb.3_Missense_Mutation_p.G45R	p.G45R	NM_020474	NP_065207	Q10472	GALT1_HUMAN			1	186	+			45					Q86TJ7|Q9UM86	Missense_Mutation	SNP	ENST00000269195.5	37	c.133G>A	CCDS11915.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988756	0.35131	.	.	ENSG00000141429	ENST00000537748;ENST00000269195	T	0.53640	0.61	5.62	5.62	0.85841	.	0.309606	0.36268	N	0.002696	T	0.35885	0.0947	L	0.31578	0.945	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.17992	-1.0351	10	0.09590	T	0.72	.	17.1412	0.86754	0.0:0.0:1.0:0.0	.	45	Q10472	GALT1_HUMAN	R	45	ENSP00000269195:G45R	ENSP00000269195:G45R	G	+	1	0	GALNT1	31488757	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.990000	0.56965	2.633000	0.89246	0.655000	0.94253	GGA		0.338	GALNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255771.2	NM_020474	
APC2	10297	broad.mit.edu	37	19	1468647	1468647	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:1468647G>A	ENST00000535453.1	+	14	7060	c.5347G>A	c.(5347-5349)Ggg>Agg	p.G1783R	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Missense_Mutation_p.G1783R|APC2_ENST00000238483.4_Missense_Mutation_p.G1509R			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCACGCCCGGGGTGCCAGC	0.721																																						uc002lsr.1																			0				breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18						c.(5347-5349)Ggg>Agg		Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.							12.0	15.0	14.0					19																	1468647		2142	4237	6379	SO:0001583	missense	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1468647G>A		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.5347G>A	19.37:g.1468647G>A	ENSP00000442954:p.Gly1783Arg					APC2_uc002lss.1_Missense_Mutation_p.G1365R|APC2_uc002lst.1_Missense_Mutation_p.G1783R|APC2_uc002lsu.1_Missense_Mutation_p.G1782R|C19orf25_uc010xgn.1_Intron	p.G1783R	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	5555	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	1783			Pro-rich.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	c.5347G>A	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	g	5.318	0.243939	0.10077	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	D;D;D	0.92495	-3.05;-2.7;-3.05	3.95	-3.1	0.05315	.	0.671285	0.15433	N	0.262611	T	0.81612	0.4859	N	0.16478	0.41	0.09310	N	1	B;B	0.17465	0.022;0.013	B;B	0.08055	0.003;0.001	T	0.67760	-0.5587	10	0.36615	T	0.2	-15.6266	9.9221	0.41470	0.666:0.0:0.334:0.0	.	1782;1783	O95996-3;O95996	.;APC2_HUMAN	R	1783;1509;1783	ENSP00000233607:G1783R;ENSP00000238483:G1509R;ENSP00000442954:G1783R	ENSP00000233607:G1783R	G	+	1	0	APC2	1419647	0.084000	0.21492	0.000000	0.03702	0.007000	0.05969	1.123000	0.31308	-0.374000	0.07967	-1.326000	0.01283	GGG		0.721	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
CDC37	11140	broad.mit.edu	37	19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592																																						uc002mof.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(667-669)Gcc>Acc		Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.							76.0	72.0	73.0					19																	10505756		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505756C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.667G>A	19.37:g.10505756C>T	ENSP00000222005:p.Ala223Thr						p.A223T	NM_007065	NP_008996	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	4	783	-			223					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.667G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254584	0.80135	.	.	ENSG00000105401	ENST00000222005	T	0.54279	0.58	3.94	3.94	0.45596	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.77616	2.38	0.80722	D	1	P;P	0.43938	0.822;0.822	B;B	0.43331	0.416;0.416	T	0.67991	-0.5527	10	0.87932	D	0	.	13.8297	0.63373	0.0:1.0:0.0:0.0	.	223;223	Q6FG59;Q16543	.;CDC37_HUMAN	T	223	ENSP00000222005:A223T	ENSP00000222005:A223T	A	-	1	0	CDC37	10366756	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.996000	0.76263	1.913000	0.55393	0.561000	0.74099	GCC		0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065	
FAM129C	199786	broad.mit.edu	37	19	17649991	17649991	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:17649991G>A	ENST00000335393.4	+	7	859	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	FAM129C_ENST00000595684.1_Missense_Mutation_p.A241T|FAM129C_ENST00000352727.3_Missense_Mutation_p.A241T|FAM129C_ENST00000599164.1_Missense_Mutation_p.A210T|FAM129C_ENST00000332386.5_Missense_Mutation_p.A241T|FAM129C_ENST00000601861.1_Missense_Mutation_p.A210T|FAM129C_ENST00000300971.2_Missense_Mutation_p.A241T|FAM129C_ENST00000600871.1_Missense_Mutation_p.A187T|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.A210T	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	241										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTGCCCGGGCCTTCCTGGA	0.697																																						uc021uqj.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						c.(721-723)Gcc>Acc		Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.							14.0	14.0	14.0					19																	17649991		2193	4288	6481	SO:0001583	missense	199786							g.chr19:17649991G>A	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.721G>A	19.37:g.17649991G>A	ENSP00000335040:p.Ala241Thr					FAM129C_uc021uqi.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.4_5'UTR|FAM129C_uc010xpu.2_5'UTR|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_5'UTR|FAM129C_uc002nhb.3_5'Flank	p.A241T	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			6	859	+			241					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.721G>A	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	g	26.4	4.733953	0.89482	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.53206	0.95;0.93;0.69;0.63	4.37	4.37	0.52481	.	0.131175	0.34362	N	0.004036	T	0.63355	0.2504	M	0.72118	2.19	0.80722	D	1	D;D	0.65815	0.987;0.995	P;P	0.61940	0.854;0.896	T	0.68187	-0.5475	10	0.87932	D	0	-25.9928	12.4055	0.55436	0.0:0.0:1.0:0.0	.	241;241	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	T	241;241;241;241;187	ENSP00000335040:A241T;ENSP00000333447:A241T;ENSP00000341067:A241T;ENSP00000300971:A241T	ENSP00000300971:A241T	A	+	1	0	FAM129C	17510991	0.998000	0.40836	0.999000	0.59377	0.997000	0.91878	3.306000	0.51881	2.004000	0.58718	0.486000	0.48141	GCC		0.697	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544	
CD177	57126	broad.mit.edu	37	19	43865711	43865711	+	RNA	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:43865711G>T	ENST00000607109.1	-	0	300				CD177_ENST00000607517.1_RNA|CD177_ENST00000378009.4_RNA																							TGTTATGATGGGTACATTCAT	0.622																																						uc002owi.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						c.(1057-1059)gGg>gTg		Homo sapiens CD177 molecule (CD177), mRNA.							8.0	10.0	9.0					19																	43865711		1898	4065	5963			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43865711G>T																													19.37:g.43865711G>T						CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	p.G353V	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			8	1100	+		Prostate(69;0.00682)	354			UPAR/Ly6 2.			Missense_Mutation	SNP	ENST00000607109.1	37	c.1058G>T																																																																																					0.622	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1		
IFT172	26160	broad.mit.edu	37	2	27688614	27688614	+	Splice_Site	SNP	G	G	A	rs376749789		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:27688614G>A	ENST00000260570.3	-	17	1931	c.1828C>T	c.(1828-1830)Cgg>Tgg	p.R610W		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	610					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTCACCGGATGTAGTTG	0.537																																						uc002rku.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43						c.e17+1		Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.		G	TRP/ARG	0,4406		0,0,2203	370.0	355.0	360.0		1828	4.8	1.0	2		360	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	IFT172	NM_015662.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	610/1750	27688614	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	26160				cilium assembly	cilium	binding	g.chr2:27688614G>A	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.1829+1C>T	2.37:g.27688614G>A							p.R610_splice	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			17	1880	-	Acute lymphoblastic leukemia(172;0.155)		610					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	ENST00000260570.3	37	c.1829_splice	CCDS1755.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061731	0.76187	0.0	1.16E-4	ENSG00000138002	ENST00000260570	T	0.64991	-0.13	5.65	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.80639	0.4661	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83764	0.0216	10	0.87932	D	0	-15.1502	12.3088	0.54918	0.0:0.0:0.587:0.413	.	610	Q9UG01	IF172_HUMAN	W	610	ENSP00000260570:R610W	ENSP00000260570:R610W	R	-	1	2	IFT172	27542118	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.315000	0.51951	1.391000	0.46566	0.655000	0.94253	CGG		0.537	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662	Missense_Mutation
GCC2	9648	broad.mit.edu	37	2	109103075	109103075	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:109103075G>A	ENST00000309863.6	+	16	4615	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1301					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTGACAGCACTACAGGA	0.512																																						uc002tec.3																			0		p.A1301V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(3901-3903)Gca>Aca		Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.							91.0	80.0	84.0					2																	109103075		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109103075G>A	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3901G>A	2.37:g.109103075G>A	ENSP00000307939:p.Ala1301Thr					GCC2_uc002ted.3_Missense_Mutation_p.A1200T	p.A1301T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			15	4055	+			1301					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.3901G>A	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	2.653	-0.281549	0.05642	.	.	ENSG00000135968	ENST00000309863	T	0.30448	1.53	5.6	1.79	0.24919	.	0.292068	0.36665	N	0.002461	T	0.19366	0.0465	L	0.36672	1.1	0.09310	N	1	B	0.22346	0.068	B	0.21708	0.036	T	0.23547	-1.0185	10	0.12103	T	0.63	.	8.5834	0.33644	0.4314:0.0:0.5686:0.0	.	1301	Q8IWJ2	GCC2_HUMAN	T	1301	ENSP00000307939:A1301T	ENSP00000307939:A1301T	A	+	1	0	GCC2	108469507	0.074000	0.21230	0.002000	0.10522	0.092000	0.18411	1.792000	0.38754	0.734000	0.32515	-0.140000	0.14226	GCA		0.512	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
LRP2	4036	broad.mit.edu	37	2	170026272	170026272	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:170026272T>C	ENST00000263816.3	-	60	11722	c.11437A>G	c.(11437-11439)Agt>Ggt	p.S3813G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3813	LDL-receptor class A 33. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTCAGTTCACTGTGTACACAA	0.438																																						uc002ues.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(11437-11439)Agt>Ggt		Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						194.0	153.0	167.0					2																	170026272		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170026272T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.11437A>G	2.37:g.170026272T>C	ENSP00000263816:p.Ser3813Gly						p.S3813G	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	59	11650	-			3813			LDL-receptor class A 33.		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.11437A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.286795	0.40494	.	.	ENSG00000081479	ENST00000263816	D	0.95554	-3.74	6.17	3.13	0.36017	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.761286	0.13536	N	0.380609	D	0.88171	0.6365	N	0.13198	0.31	0.80722	D	1	B	0.25351	0.124	B	0.24701	0.055	T	0.79322	-0.1851	10	0.37606	T	0.19	.	4.117	0.10086	0.0:0.553:0.1992:0.2479	.	3813	P98164	LRP2_HUMAN	G	3813	ENSP00000263816:S3813G	ENSP00000263816:S3813G	S	-	1	0	LRP2	169734518	1.000000	0.71417	0.000000	0.03702	0.001000	0.01503	3.950000	0.56676	0.332000	0.23536	-0.316000	0.08728	AGT		0.438	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	uc002vcs.3				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	3	641	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
RHBDD1	84236	broad.mit.edu	37	2	227729644	227729644	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:227729644T>C	ENST00000341329.3	+	2	477	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	RHBDD1_ENST00000392062.2_Missense_Mutation_p.W79R	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	79					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGCTGATGATTGGCATTTGTA	0.438																																						uc021vxo.1																			0				breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(235-237)Tgg>Cgg		Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.							175.0	163.0	167.0					2																	227729644		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729644T>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.235T>C	2.37:g.227729644T>C	ENSP00000344779:p.Trp79Arg					RHBDD1_uc002voi.3_Missense_Mutation_p.W79R|RHBDD1_uc010fxc.3_Missense_Mutation_p.W79R	p.W79R	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	3	759	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	79					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.235T>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.834864	0.50951	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.242548	0.43579	D	0.000547	T	0.41834	0.1176	M	0.84433	2.695	0.39990	D	0.975023	D;D	0.69078	0.997;0.996	D;D	0.71414	0.973;0.964	T	0.36261	-0.9755	10	0.34782	T	0.22	-14.2848	16.5885	0.84745	0.0:0.0:0.0:1.0	.	79;79	C9K011;Q8TEB9	.;RHBD1_HUMAN	R	79	ENSP00000400765:W79R;ENSP00000344779:W79R;ENSP00000375914:W79R;ENSP00000399694:W79R;ENSP00000388847:W79R	ENSP00000344779:W79R	W	+	1	0	RHBDD1	227437888	1.000000	0.71417	0.945000	0.38365	0.498000	0.33706	3.880000	0.56145	2.317000	0.78254	0.460000	0.39030	TGG		0.438	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2		
BOK	666	broad.mit.edu	37	2	242509549	242509549	+	Frame_Shift_Del	DEL	G	G	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:242509549delG	ENST00000318407.3	+	4	661	c.359delG	c.(358-360)tggfs	p.W120fs		NM_032515.4	NP_115904.1	Q9UMX3	BOK_HUMAN	BCL2-related ovarian killer	120					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cell proliferation (GO:0008283)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|neuron apoptotic process (GO:0051402)|oligodendrocyte differentiation (GO:0048709)|positive regulation of apoptotic process (GO:0043065)|positive regulation of execution phase of apoptosis (GO:1900119)	cytoplasm (GO:0005737)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)	5		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;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCATCACGTGGGGCAAGGTG	0.657																																						uc002wbq.3																			0				large_intestine(1)|lung(3)|ovary(1)	5						c.(358-360)tggfs		Homo sapiens BCL2-related ovarian killer (BOK), mRNA.							73.0	66.0	68.0					2																	242509549		2199	4298	6497	SO:0001589	frameshift_variant	666				activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus		g.chr2:242509549delG	AF174487	CCDS2550.1	2q37.3	2008-05-22			ENSG00000176720	ENSG00000176720			1087	protein-coding gene	gene with protein product		605404				9356461, 11034351, 15102863	Standard	NM_032515		Approved	BCL2L9, BOKL, MGC4631	uc002wbq.3	Q9UMX3	OTTHUMG00000133411	ENST00000318407.3:c.359delG	2.37:g.242509549delG	ENSP00000314132:p.Trp120fs					BOK_uc002wbr.3_5'Flank	p.W120fs	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)	3	651	+		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)	120						Frame_Shift_Del	DEL	ENST00000318407.3	37	c.359delG	CCDS2550.1																																																																																				0.657	BOK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257268.2	NM_032515	
CRYBA4	1413	broad.mit.edu	37	22	27018564	27018564	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:27018564A>G	ENST00000354760.3	+	2	39	c.4A>G	c.(4-6)Acc>Gcc	p.T2A	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	2	N-terminal arm.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCACAATGACCCTGCAATG	0.562																																						uc003acz.4																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.(4-6)Acc>Gcc		Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.							67.0	65.0	66.0					22																	27018564		2203	4300	6503	SO:0001583	missense	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27018564A>G		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.4A>G	22.37:g.27018564A>G	ENSP00000346805:p.Thr2Ala						p.T2A	NM_001886	NP_001877	P53673	CRBA4_HUMAN			1	39	+			2			N-terminal arm.		Q4VB22|Q6ICE4	Missense_Mutation	SNP	ENST00000354760.3	37	c.4A>G	CCDS13841.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.854388	0.32791	.	.	ENSG00000196431	ENST00000354760	T	0.76186	-1.0	4.22	-5.91	0.02269	.	0.624535	0.14318	N	0.327201	T	0.59528	0.2200	L	0.55990	1.75	0.36203	D	0.850844	B	0.02656	0.0	B	0.04013	0.001	T	0.18999	-1.0319	10	0.40728	T	0.16	.	5.3144	0.15847	0.3817:0.0:0.3815:0.2368	.	2	P53673	CRBA4_HUMAN	A	2	ENSP00000346805:T2A	ENSP00000346805:T2A	T	+	1	0	CRYBA4	25348564	0.119000	0.22226	0.020000	0.16555	0.635000	0.38103	-0.579000	0.05834	-1.118000	0.02961	-0.263000	0.10527	ACC		0.562	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	
APOBEC3F	200316	broad.mit.edu	37	22	39436982	39436982	+	Splice_Site	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:39436982G>A	ENST00000308521.5	+	1	374	c.17G>A	c.(16-18)aGa>aAa	p.R6K	APOBEC3F_ENST00000491387.1_Intron|APOBEC3G_ENST00000452957.2_Splice_Site_p.R6K|APOBEC3F_ENST00000381565.2_Splice_Site_p.R6K	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	6					base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTCACTTCAGGTACCGCTGC	0.647																																						uc021wpr.1																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16						c.e1+1		Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.							69.0	55.0	60.0					22																	39436982		2202	4292	6494	SO:0001630	splice_region_variant	200316				base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding	g.chr22:39436982G>A	BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.17+1G>A	22.37:g.39436982G>A						APOBEC3F_uc003awv.3_Splice_Site_p.R6_splice|APOBEC3F_uc011aog.1_Splice_Site_p.R6_splice|APOBEC3F_uc003aww.3_Splice_Site_p.R6_splice	p.R6_splice	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN			1	310	+	Melanoma(58;0.04)		6					B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Missense_Mutation	SNP	ENST00000308521.5	37	c.17_splice	CCDS33648.1	.	.	.	.	.	.	.	.	.	.	.	15.24	2.775535	0.49786	.	.	ENSG00000128394;ENSG00000128394;ENSG00000239713	ENST00000308521;ENST00000381565;ENST00000452957	T;T;T	0.71579	-0.41;1.35;-0.58	0.953	0.953	0.19590	.	.	.	.	.	T	0.82222	0.4990	M	0.87269	2.87	0.09310	N	1	D;D	0.57257	0.979;0.975	D;P	0.74023	0.982;0.632	T	0.67480	-0.5660	9	0.72032	D	0.01	.	5.2454	0.15494	0.0:0.0:1.0:0.0	.	6;6	Q8IUX4;Q6ICH3	ABC3F_HUMAN;.	K	6	ENSP00000309749:R6K;ENSP00000370977:R6K;ENSP00000413376:R6K	ENSP00000309749:R6K	R	+	2	0	APOBEC3G;APOBEC3F	37766928	0.182000	0.23173	0.074000	0.20217	0.025000	0.11179	1.141000	0.31528	0.824000	0.34613	0.462000	0.41574	AGA		0.647	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1	NM_145298	Missense_Mutation
TATDN2	9797	broad.mit.edu	37	3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:10312062_10312064delGCA	ENST00000287652.4	+	4	2247_2249	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_In_Frame_Del_p.S402del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	402					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552																																						uc011atr.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						c.(1195-1200)ggcagc>ggc		Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.																																				SO:0001651	inframe_deletion	9797					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr3:10312062_10312064delGCA	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1196_1198delGCA	3.37:g.10312071_10312073delGCA	ENSP00000287652:p.Ser402del					TATDN2_uc003bvg.2_In_Frame_Del_p.S402del|TATDN2_uc003bvf.3_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	p.S402del	NM_014760	NP_055575	Q93075	TATD2_HUMAN			3	1777_1779	+			402					Q3MIL9|Q5BKU0	In_Frame_Del	DEL	ENST00000287652.4	37	c.1196_1198delGCA	CCDS33698.1																																																																																				0.552	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
DOCK3	1795	broad.mit.edu	37	3	51387773	51387773	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:51387773G>C	ENST00000266037.9	+	40	4080	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1353	DHR-2.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGGAGCCTGAGTTCTTTCG	0.448																																						uc011bds.2																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(4057-4059)Gag>Cag		Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.							180.0	180.0	180.0					3																	51387773		1925	4136	6061	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51387773G>C	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.4057G>C	3.37:g.51387773G>C	ENSP00000266037:p.Glu1353Gln						p.E1353Q	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	39	4080	+			1353			DHR-2.		O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.4057G>C	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153484	0.94645	.	.	ENSG00000088538	ENST00000266037;ENST00000402669	T	0.06371	3.31	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.26048	0.0635	M	0.70787	2.145	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.00406	-1.1759	10	0.52906	T	0.07	.	18.9724	0.92721	0.0:0.0:1.0:0.0	.	1353	Q8IZD9	DOCK3_HUMAN	Q	1353;149	ENSP00000266037:E1353Q	ENSP00000266037:E1353Q	E	+	1	0	DOCK3	51362813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.782000	0.99034	2.474000	0.83562	0.585000	0.79938	GAG		0.448	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
TNFSF10	8743	broad.mit.edu	37	3	172232698	172232698	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172232698T>C	ENST00000241261.2	-	2	345	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	TNFSF10_ENST00000420541.2_Missense_Mutation_p.S75G	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	75					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGCAGGGGCTGTTCATACTC	0.498																																						uc003fid.3																			0				breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15						c.(223-225)Agc>Ggc		Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.							145.0	138.0	140.0					3																	172232698		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172232698T>C	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.223A>G	3.37:g.172232698T>C	ENSP00000241261:p.Ser75Gly					TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S75G	p.S75G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		1	346	-	Ovarian(172;0.00197)|Breast(254;0.158)		75					A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.223A>G	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	T	6.432	0.447848	0.12223	.	.	ENSG00000121858	ENST00000241261;ENST00000420541	D;T	0.87256	-2.23;1.41	5.61	2.94	0.34122	.	0.659046	0.17233	N	0.181860	T	0.79058	0.4382	L	0.48642	1.525	0.09310	N	1	B;B	0.24920	0.114;0.085	B;B	0.24394	0.053;0.039	T	0.64123	-0.6481	10	0.29301	T	0.29	-6.6363	3.5609	0.07882	0.1758:0.2794:0.0:0.5448	.	75;75	A1Y9B3;P50591	.;TNF10_HUMAN	G	75	ENSP00000241261:S75G;ENSP00000389931:S75G	ENSP00000241261:S75G	S	-	1	0	TNFSF10	173715392	0.001000	0.12720	0.023000	0.16930	0.161000	0.22273	0.889000	0.28282	0.966000	0.38159	0.533000	0.62120	AGC		0.498	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		
SPATA16	83893	broad.mit.edu	37	3	172835032	172835032	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172835032G>C	ENST00000351008.3	-	2	673	c.490C>G	c.(490-492)Cat>Gat	p.H164D		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	164					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAAATTATGTACACTCAAA	0.448																																						uc003fin.4																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(490-492)Cat>Gat		Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.							127.0	123.0	124.0					3																	172835032		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835032G>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.490C>G	3.37:g.172835032G>C	ENSP00000341765:p.His164Asp						p.H164D	NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		1	674	-	Ovarian(172;0.00319)|Breast(254;0.197)		164					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.490C>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	G	9.972	1.225857	0.22542	.	.	ENSG00000144962	ENST00000351008	T	0.15372	2.43	5.7	5.7	0.88788	.	0.371988	0.23102	N	0.051917	T	0.08802	0.0218	N	0.08118	0	0.20873	N	0.999834	B	0.06786	0.001	B	0.01281	0.0	T	0.16188	-1.0411	10	0.40728	T	0.16	-0.6166	8.4014	0.32588	0.0814:0.1567:0.7619:0.0	.	164	Q9BXB7	SPT16_HUMAN	D	164	ENSP00000341765:H164D	ENSP00000341765:H164D	H	-	1	0	SPATA16	174317726	0.975000	0.34042	0.466000	0.27168	0.692000	0.40212	2.684000	0.46951	2.677000	0.91161	0.650000	0.86243	CAT		0.448	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
MUC4	4585	broad.mit.edu	37	3	195511959	195511959	+	Silent	SNP	G	G	A	rs369770584		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:195511959G>A	ENST00000463781.3	-	2	6951	c.6492C>T	c.(6490-6492)acC>acT	p.T2164T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.T2164T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGTGTCGGTGACAGGAA	0.577																																						uc021xjp.1																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6490-6492)acC>acT		Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.							15.0	15.0	15.0					3																	195511959		676	1556	2232	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511959G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6492C>T	3.37:g.195511959G>A						MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	p.T2164T	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	1	6648	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	943					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.6492C>T	CCDS54700.1																																																																																				0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
GABRA2	2555	broad.mit.edu	37	4	46252347	46252347	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:46252347G>A	ENST00000510861.1	-	10	1507	c.1334C>T	c.(1333-1335)cCt>cTt	p.P445L	GABRA2_ENST00000514090.1_Missense_Mutation_p.P445L|GABRA2_ENST00000507069.1_Missense_Mutation_p.P505L|GABRA2_ENST00000381620.4_Missense_Mutation_p.P445L|GABRA2_ENST00000356504.1_Missense_Mutation_p.P445L|GABRA2_ENST00000540012.1_Missense_Mutation_p.P450L			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	445					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCTAATACAGGTTCTCTGTT	0.338																																						uc011bzc.1																			0		p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56						c.(1348-1350)cCt>cTt		Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						78.0	83.0	82.0					4																	46252347		2202	4294	6496	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46252347G>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1334C>T	4.37:g.46252347G>A	ENSP00000421828:p.Pro445Leu					GABRA2_uc003gxc.3_Missense_Mutation_p.P445L|GABRA2_uc010igc.2_Missense_Mutation_p.P445L	p.P450L			P47869	GBRA2_HUMAN			9	1761	-			445					A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.1349C>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659641	0.67586	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.84442	-1.85;-1.85;-1.85;-1.85;-1.56;-1.46	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.048140	0.85682	D	0.000000	D	0.85349	0.5676	L	0.38531	1.155	0.80722	D	1	D;D	0.59767	0.985;0.986	P;P	0.55455	0.711;0.776	D	0.85359	0.1106	10	0.52906	T	0.07	.	12.4559	0.55704	0.076:0.0:0.924:0.0	.	450;445	B7Z1H8;P47869	.;GBRA2_HUMAN	L	445;445;445;445;450;505	ENSP00000421828:P445L;ENSP00000421300:P445L;ENSP00000371033:P445L;ENSP00000348897:P445L;ENSP00000444409:P450L;ENSP00000427603:P505L	ENSP00000348897:P445L	P	-	2	0	GABRA2	45947104	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.745000	0.74860	2.767000	0.95098	0.655000	0.94253	CCT		0.338	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
FAM175A	84142	broad.mit.edu	37	4	84388619	84388641	+	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-	rs568225415		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	ENST00000321945.7	-	7	755_777	c.647_669delATGAAATGTATGCTTCATTACAA	c.(646-669)aatgaaatgtatgcttcattacaafs	p.NEMYASLQ216fs	FAM175A_ENST00000505489.1_5'Flank|FAM175A_ENST00000506553.1_Frame_Shift_Del_p.NEMYASLQ167fs|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	216					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	0.309																																						uc003hou.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						c.(646-669)aatgaaatgtatgcttcattacaafs		Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.																																				SO:0001589	frameshift_variant	84142				chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.647_669delATGAAATGTATGCTTCATTACAA	4.37:g.84388619_84388641delTTGTAATGAAGCATACATTTCAT	ENSP00000369857:p.Asn216fs					FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	p.N216fs	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN			6	712_734	-			216					A5JJ07|Q9H8I1|Q9H9N4	Frame_Shift_Del	DEL	ENST00000321945.7	37	c.647_669delATGAAATGTATGCTTCATTACAA	CCDS3605.2																																																																																				0.309	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252818.1	NM_139076	
SEC24B	10427	broad.mit.edu	37	4	110442579	110442579	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:110442579A>G	ENST00000265175.5	+	14	2360	c.2305A>G	c.(2305-2307)Ata>Gta	p.I769V	SEC24B_ENST00000504968.2_Missense_Mutation_p.I799V|SEC24B_ENST00000399100.2_Missense_Mutation_p.I734V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	769					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTCAGCTTATAAAAGACTT	0.343																																						uc003hzk.3																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2305-2307)Ata>Gta		Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.							89.0	81.0	84.0					4																	110442579		1874	4091	5965	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110442579A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.2305A>G	4.37:g.110442579A>G	ENSP00000265175:p.Ile769Val					SEC24B_uc003hzl.3_Missense_Mutation_p.I734V|SEC24B_uc011cfp.2_Missense_Mutation_p.I799V|SEC24B_uc011cfq.2_Missense_Mutation_p.I768V|SEC24B_uc011cfr.2_Missense_Mutation_p.I733V	p.I769V	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	13	2360	+		Hepatocellular(203;0.217)	769					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.2305A>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	A	8.017	0.758732	0.15846	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	T;T;T	0.77358	-1.09;-1.09;-1.09	5.78	5.78	0.91487	Sec23/Sec24, trunk domain (1);	0.047549	0.85682	D	0.000000	T	0.62901	0.2466	N	0.10837	0.055	0.58432	D	0.999997	B;B;B;B;B	0.20261	0.043;0.002;0.043;0.035;0.043	B;B;B;B;B	0.29524	0.103;0.011;0.103;0.062;0.103	T	0.59215	-0.7496	10	0.12430	T	0.62	-27.5837	16.1146	0.81295	1.0:0.0:0.0:0.0	.	683;368;799;734;769	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	V	799;734;769	ENSP00000428564:I799V;ENSP00000382051:I734V;ENSP00000265175:I769V	ENSP00000265175:I769V	I	+	1	0	SEC24B	110662028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.753000	0.68736	2.200000	0.70718	0.460000	0.39030	ATA		0.343	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2		
MYOZ2	51778	broad.mit.edu	37	4	120085521	120085521	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:120085521G>C	ENST00000307128.5	+	5	745	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_016599.4	NP_057683.1			myozenin 2											endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGCAGAACTGCCTGA	0.418																																						uc003icp.4																			0				endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						c.(532-534)Gaa>Caa		Homo sapiens myozenin 2 (MYOZ2), mRNA.							62.0	62.0	62.0					4																	120085521		2203	4300	6503	SO:0001583	missense	51778						protein phosphatase 2B binding	g.chr4:120085521G>C	AF249873	CCDS3711.1	4q26-q27	2014-09-17	2002-01-07	2002-01-11	ENSG00000172399	ENSG00000172399			1330	protein-coding gene	gene with protein product		605602	"""chromosome 4 open reading frame 5"""	C4orf5		8619474, 9110174	Standard	NM_016599		Approved	CS-1	uc003icp.4	Q9NPC6	OTTHUMG00000132968	ENST00000307128.5:c.532G>C	4.37:g.120085521G>C	ENSP00000306997:p.Glu178Gln						p.E178Q	NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN			4	745	+			178						Missense_Mutation	SNP	ENST00000307128.5	37	c.532G>C	CCDS3711.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897107	0.52121	.	.	ENSG00000172399	ENST00000307128	T	0.65364	-0.15	5.96	5.11	0.69529	.	0.401965	0.31145	N	0.008174	T	0.59609	0.2206	L	0.49350	1.555	0.54753	D	0.999982	B	0.30889	0.299	B	0.32980	0.156	T	0.56498	-0.7969	10	0.31617	T	0.26	-7.5138	17.1665	0.86818	0.0:0.1264:0.8736:0.0	.	178	Q9NPC6	MYOZ2_HUMAN	Q	178	ENSP00000306997:E178Q	ENSP00000306997:E178Q	E	+	1	0	MYOZ2	120304969	1.000000	0.71417	0.990000	0.47175	0.996000	0.88848	4.925000	0.63425	1.504000	0.48704	0.655000	0.94253	GAA		0.418	MYOZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256526.2		
PCDHA4	56144	broad.mit.edu	37	5	140189035	140189035	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:140189035A>G	ENST00000530339.1	+	1	2263	c.2263A>G	c.(2263-2265)Agg>Ggg	p.R755G	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R755G|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R755G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	755	6 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAGAGGAGGCCGAGGGT	0.662																																						uc003lhi.2																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45						c.(2263-2265)Agg>Ggg		Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.							85.0	87.0	86.0					5																	140189035		2203	4300	6503	SO:0001583	missense	56144				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140189035A>G	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.2263A>G	5.37:g.140189035A>G	ENSP00000435300:p.Arg755Gly					PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R755G|PCDHAC2_uc011daa.2_Missense_Mutation_p.R755G	p.R755G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	2364	+			792					O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.2263A>G	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	a	9.642	1.139245	0.21205	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.14766	2.48;2.48;2.48	3.83	-1.63	0.08345	.	0.190338	0.23583	N	0.046628	T	0.16981	0.0408	M	0.83012	2.62	0.09310	N	1	B;B;B	0.13594	0.008;0.001;0.001	B;B;B	0.17433	0.018;0.005;0.003	T	0.25882	-1.0119	10	0.41790	T	0.15	.	9.8084	0.40808	0.3245:0.5872:0.0883:0.0	.	755;755;755	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	G	755	ENSP00000423470:R755G;ENSP00000349344:R755G;ENSP00000435300:R755G	ENSP00000349344:R755G	R	+	1	2	PCDHA4	140169219	0.002000	0.14202	0.981000	0.43875	0.569000	0.35902	0.208000	0.17415	-0.166000	0.10890	0.397000	0.26171	AGG		0.662	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	NM_018907	
CLK4	57396	broad.mit.edu	37	5	178040532	178040532	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:178040532C>T	ENST00000316308.4	-	7	936	c.768G>A	c.(766-768)ctG>ctA	p.L256L		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTGAAATGGCAGAAAGCTGT	0.328																																						uc003mjf.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21						c.(766-768)ctG>ctA		Homo sapiens CDC-like kinase 4 (CLK4), mRNA.							82.0	81.0	82.0					5																	178040532		2203	4300	6503	SO:0001819	synonymous_variant	57396					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr5:178040532C>T	AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.768G>A	5.37:g.178040532C>T						CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	p.L256L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)	6	876	-	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	256			Protein kinase.			Silent	SNP	ENST00000316308.4	37	c.768G>A	CCDS4437.1																																																																																				0.328	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253479.2		
KIF13A	63971	broad.mit.edu	37	6	17831467	17831467	+	Splice_Site	SNP	C	C	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:17831467C>A	ENST00000259711.6	-	13	1372		c.e13-1		KIF13A_ENST00000378826.2_Splice_Site|KIF13A_ENST00000378816.5_Splice_Site|KIF13A_ENST00000378843.2_Splice_Site|KIF13A_ENST00000378814.5_Splice_Site	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A						ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTGTCTTTCCTGTGCACAAA	0.438																																						uc003ncg.4																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.e13-1		Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.							97.0	93.0	94.0					6																	17831467		1913	4126	6039	SO:0001630	splice_region_variant	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17831467C>A	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1267-1G>T	6.37:g.17831467C>A						KIF13A_uc003ncf.3_Splice_Site_p.E423_splice|KIF13A_uc003nch.4_Splice_Site_p.E423_splice|KIF13A_uc003nci.4_Splice_Site_p.E423_splice|KIF13A_uc003ncj.3_Splice_Site_p.E99_splice	p.E423_splice	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		13	1427	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	423					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Splice_Site	SNP	ENST00000259711.6	37	c.1267_splice	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816563	0.90790	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5837	0.95482	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF13A	17939446	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.752000	0.85141	2.684000	0.91462	0.563000	0.77884	.		0.438	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4		Intron
BTNL2	56244	broad.mit.edu	37	6	32370963	32370963	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:32370963T>C	ENST00000374993.1	-	3	457	c.458A>G	c.(457-459)gAg>gGg	p.E153G	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.E153G	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	153	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCAGGTCCCTCCATGTGGAT	0.607																																						uc003obg.1																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(457-459)gAg>gGg		Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.							27.0	26.0	26.0					6																	32370963		1508	2707	4215	SO:0001583	missense	56244					integral to membrane		g.chr6:32370963T>C	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.458A>G	6.37:g.32370963T>C	ENSP00000364132:p.Glu153Gly					BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	p.E153G	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			2	458	-			153			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.458A>G		.	.	.	.	.	.	.	.	.	.	T	15.02	2.707828	0.48412	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.13778	2.56	4.6	0.537	0.17144	Immunoglobulin-like fold (1);	0.922461	0.09121	N	0.845713	T	0.11324	0.0276	M	0.81179	2.53	0.09310	N	1	P	0.47484	0.896	P	0.49192	0.602	T	0.14090	-1.0485	10	0.56958	D	0.05	.	5.6611	0.17670	0.1649:0.0:0.3427:0.4924	.	153	Q9UIR0	BTNL2_HUMAN	G	153	ENSP00000364132:E153G	ENSP00000364132:E153G	E	-	2	0	BTNL2	32478941	0.000000	0.05858	0.020000	0.16555	0.014000	0.08584	0.022000	0.13511	0.025000	0.15241	-0.360000	0.07572	GAG		0.607	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
DEF6	50619	broad.mit.edu	37	6	35280172	35280172	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:35280172G>A	ENST00000316637.5	+	4	522	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	173						cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCCCAGGTGGCCCAGACCAC	0.647																																						uc003okk.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						c.(517-519)Gcc>Acc		Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.							49.0	59.0	55.0					6																	35280172		2203	4300	6503	SO:0001583	missense	50619					cytoplasm|nucleus|plasma membrane		g.chr6:35280172G>A	AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.517G>A	6.37:g.35280172G>A	ENSP00000319831:p.Ala173Thr					DEF6_uc010jvs.3_Missense_Mutation_p.A173T|DEF6_uc010jvt.3_Intron	p.A173T	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN			3	556	+			173					Q86VF4	Missense_Mutation	SNP	ENST00000316637.5	37	c.517G>A	CCDS4802.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.32|10.32	1.318108|1.318108	0.23994|0.23994	.|.	.|.	ENSG00000023892|ENSG00000023892	ENST00000394658;ENST00000316637|ENST00000444278	T|.	0.04970|.	3.52|.	4.67|4.67	4.67|4.67	0.58626|0.58626	.|.	0.000000|.	0.49916|.	D|.	0.000132|.	T|T	0.26268|0.26268	0.0641|0.0641	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B|.	0.11235|.	0.004;0.004|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.10132|0.10132	-1.0643|-1.0643	10|5	0.21540|.	T|.	0.41|.	-16.8947|-16.8947	15.8947|15.8947	0.79325|0.79325	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	173;173|.	B2RBP7;Q9H4E7|.	.;DEFI6_HUMAN|.	T|D	136;173|81	ENSP00000319831:A173T|.	ENSP00000319831:A173T|.	A|G	+|+	1|2	0|0	DEF6|DEF6	35388150|35388150	0.998000|0.998000	0.40836|0.40836	0.985000|0.985000	0.45067|0.45067	0.832000|0.832000	0.47134|0.47134	4.816000|4.816000	0.62642|0.62642	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GCC|GGC		0.647	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040276.1	NM_022047	
PKHD1	5314	broad.mit.edu	37	6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T	rs375949362		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:51799070C>T	ENST00000371117.3	-	37	6234	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1987T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1987	G8 1. {ECO:0000255|PROSITE- ProRule:PRU00817}.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1987T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	1	0.000199681	0.0	0.0014	5008	,	,		19865	0.0		0.0	False		,,,				2504	0.0					uc003pah.1																			1	Substitution - Missense(1)	p.A1987T(2)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5959-5961)Gcc>Acc		Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	113.0	105.0	108.0		5959,5959	-0.9	0.1	6		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PKHD1	NM_138694.3,NM_170724.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1987/4075,1987/3397	51799070	1,13005	2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51799070C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5959G>A	6.37:g.51799070C>T	ENSP00000360158:p.Ala1987Thr		OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	980	PKHD1_uc010jzn.1_Missense_Mutation_p.A12T|PKHD1_uc003pai.3_Missense_Mutation_p.A1987T	p.A1987T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			36	6235	-	Lung NSC(77;0.0605)		1987			G8 1.		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5959G>A	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378129	0.24944	0.0	1.16E-4	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.89050	-2.46;-2.46	5.59	-0.93	0.10441	G8 domain (2);	0.848896	0.10708	N	0.643186	T	0.65770	0.2723	L	0.34521	1.04	0.09310	N	1	P;P;P	0.45474	0.859;0.714;0.529	B;B;B	0.35655	0.207;0.08;0.102	T	0.57271	-0.7840	10	0.29301	T	0.29	.	10.5006	0.44804	0.3684:0.5613:0.0703:0.0	.	1987;1987;1987	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	T	1987	ENSP00000360158:A1987T;ENSP00000341097:A1987T	ENSP00000341097:A1987T	A	-	1	0	PKHD1	51907029	0.035000	0.19736	0.057000	0.19452	0.924000	0.55760	0.083000	0.14871	-0.165000	0.10908	0.655000	0.94253	GCC		0.542	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
MTHFD1L	25902	broad.mit.edu	37	6	151336802	151336802	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:151336802C>T	ENST00000367321.3	+	24	2833	c.2559C>T	c.(2557-2559)agC>agT	p.S853S		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	853	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTAAAAGAAGCCGATTCCAGT	0.493																																						uc021zgs.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2560-2562)agC>agT		Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							92.0	85.0	87.0					6																	151336802		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151336802C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2559C>T	6.37:g.151336802C>T						MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S853S|MTHFD1L_uc021zgt.1_Silent_p.S788S|MTHFD1L_uc003qoc.3_Silent_p.S801S	p.S854S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	23	2706	+		Ovarian(120;0.128)	853			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.2562C>T	CCDS5228.1																																																																																				0.493	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440	
ADAP1	11033	broad.mit.edu	37	7	943765	943765	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:943765T>C	ENST00000265846.5	-	6	865	c.646A>G	c.(646-648)Aag>Gag	p.K216E	ADAP1_ENST00000463358.1_5'Flank|ADAP1_ENST00000539900.1_Missense_Mutation_p.K227E|ADAP1_ENST00000449296.2_Missense_Mutation_p.K144E	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	216	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell surface receptor signaling pathway (GO:0007166)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF GTPase activity (GO:0032312)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GCACCCACCTTCCCGTCCTCA	0.672																																						uc003sjo.4																			0				endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(646-648)Aag>Gag		Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.							81.0	69.0	73.0					7																	943765		2196	4294	6490	SO:0001583	missense	11033				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	g.chr7:943765T>C	AJ006422	CCDS5318.1, CCDS64576.1, CCDS64577.1, CCDS75558.1	7p22.3	2013-01-10	2008-09-22	2008-09-22	ENSG00000105963	ENSG00000105963		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16486	protein-coding gene	gene with protein product		608114	"""centaurin, alpha 1"""	CENTA1		10333475	Standard	NM_006869		Approved	GCS1L	uc003sjo.4	O75689	OTTHUMG00000023380	ENST00000265846.5:c.646A>G	7.37:g.943765T>C	ENSP00000265846:p.Lys216Glu					ADAP1_uc003sjm.4_Missense_Mutation_p.K42E|ADAP1_uc011jvs.2_Missense_Mutation_p.K121E|ADAP1_uc003sjn.4_Missense_Mutation_p.K144E|ADAP1_uc010ksc.3_Missense_Mutation_p.K144E	p.K216E	NM_006869	NP_006860	O75689	ADAP1_HUMAN			5	839	-			216			PH 1.		A4D2Q2|B3KRZ4|B4DVA6|F6XZ68|H7C2Q4	Missense_Mutation	SNP	ENST00000265846.5	37	c.646A>G	CCDS5318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	13.69|13.69	2.311146|2.311146	0.40895|0.40895	.|.	.|.	ENSG00000105963|ENSG00000105963	ENST00000454383|ENST00000265846;ENST00000449296;ENST00000449929;ENST00000538188;ENST00000539900;ENST00000453175	.|T;T;T	.|0.26373	.|1.74;1.74;1.74	4.29|4.29	4.29|4.29	0.51040|0.51040	.|Pleckstrin homology-type (1);Pleckstrin homology domain (2);	.|0.220796	.|0.45867	.|D	.|0.000330	T|T	0.38295|0.38295	0.1035|0.1035	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58970	.|0.981;0.984	.|P;P	.|0.55923	.|0.625;0.787	T|T	0.10382|0.10382	-1.0632|-1.0632	5|10	.|0.27785	.|T	.|0.31	-40.4749|-40.4749	13.5666|13.5666	0.61822|0.61822	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|121;216	.|B4DUZ7;O75689	.|.;ADAP1_HUMAN	G|E	156|216;144;42;102;227;49	.|ENSP00000265846:K216E;ENSP00000407267:K144E;ENSP00000442682:K227E	.|ENSP00000265846:K216E	E|K	-|-	2|1	0|0	ADAP1|ADAP1	910291|910291	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.268000|0.268000	0.26511|0.26511	5.828000|5.828000	0.69307|0.69307	1.797000|1.797000	0.52628|0.52628	0.454000|0.454000	0.30748|0.30748	GAA|AAG		0.672	ADAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059701.2	NM_006869	
ZMIZ2	83637	broad.mit.edu	37	7	44798997	44798997	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:44798997C>T	ENST00000309315.4	+	7	1054	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P311S|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P279S|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P311S|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P279S	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	311	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACAGGCTGCCCCTGCAGCA	0.687																																					NSCLC(20;604 852 1948 16908 50522)	uc003tlr.3																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(931-933)Ccc>Tcc		Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.							38.0	44.0	42.0					7																	44798997		2003	4151	6154	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44798997C>T	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.931C>T	7.37:g.44798997C>T	ENSP00000311778:p.Pro311Ser					ZMIZ2_uc003tlq.3_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	p.P311S	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN			6	1054	+			311			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.931C>T	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157951	0.78114	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.74106	1.41;-0.81;-0.81;-0.81;1.41	4.67	4.67	0.58626	.	0.151235	0.30989	N	0.008462	D	0.84479	0.5481	M	0.69823	2.125	0.48395	D	0.999649	D;D;D	0.89917	1.0;0.994;1.0	D;P;D	0.91635	0.999;0.902;0.999	D	0.85041	0.0923	10	0.49607	T	0.09	-11.9208	14.5912	0.68365	0.0:1.0:0.0:0.0	.	311;311;279	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	S	279;311;311;279;311;311	ENSP00000409648:P279S;ENSP00000311778:P311S;ENSP00000414723:P311S;ENSP00000396601:P279S;ENSP00000265346:P311S	ENSP00000265346:P311S	P	+	1	0	ZMIZ2	44765522	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.912000	0.48782	2.413000	0.81919	0.462000	0.41574	CCC		0.687	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
CLIP2	7461	broad.mit.edu	37	7	73790959	73790959	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:73790959G>C	ENST00000395060.1	+	9	2228	c.2228G>C	c.(2227-2229)cGg>cCg	p.R743P	CLIP2_ENST00000361545.5_Missense_Mutation_p.R708P|CLIP2_ENST00000223398.6_Missense_Mutation_p.R743P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	743						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTGGAGTACCGGGGCCAGGCG	0.657																																						uc003uam.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2227-2229)cGg>cCg		Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.							30.0	39.0	36.0					7																	73790959		2203	4300	6503	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73790959G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2228G>C	7.37:g.73790959G>C	ENSP00000378500:p.Arg743Pro					CLIP2_uc003uan.3_Missense_Mutation_p.R708P|CLIP2_uc003uao.3_Missense_Mutation_p.R137P	p.R743P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN			9	2555	+			743					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2228G>C	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.485474	0.26686	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.59502	0.27;0.26;0.27	4.9	2.7	0.31948	.	0.760653	0.12871	N	0.432288	T	0.43122	0.1233	N	0.19112	0.55	0.25483	N	0.987714	B;B;B	0.31769	0.335;0.339;0.229	B;B;B	0.36464	0.225;0.113;0.052	T	0.33420	-0.9869	10	0.33940	T	0.23	-13.0762	9.331	0.38021	0.2541:0.0:0.7459:0.0	.	708;708;743	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	P	743;743;708;743	ENSP00000223398:R743P;ENSP00000355151:R708P;ENSP00000378500:R743P	ENSP00000223398:R743P	R	+	2	0	CLIP2	73428895	0.764000	0.28473	0.997000	0.53966	0.969000	0.65631	1.100000	0.31025	1.068000	0.40764	0.449000	0.29647	CGG		0.657	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388	
DPY19L2P2	349152	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GACAGCTTGACACTTGCCATT	0.373																																						uc003vbh.4																			0											c.(1048-1050)tGt>tAt		Homo sapiens dpy-19-like 2 pseudogene 2 (C. elegans) (DPY19L2P2), transcript variant 2, non-coding RNA.																																						349152							g.chr7:102825946C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102825946C>T						DPY19L2P2_uc003vbg.4_Non-coding_Transcript|DPY19L2P2_uc010lit.3_Non-coding_Transcript	p.C350Y							19	3240	-								Q8N9V4|Q8ND62	Missense_Mutation	SNP	ENST00000312132.4	37	c.1049G>A																																																																																					0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634	
OPN1SW	611	broad.mit.edu	37	7	128415066	128415066	+	Silent	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:128415066G>T	ENST00000249389.2	-	2	494	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	165					phototransduction (GO:0007602)|phototransduction, visible light (GO:0007603)|protein-chromophore linkage (GO:0018298)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)|receptor activity (GO:0004872)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGTGGGATGGAGACGCCAA	0.552																																						uc003vnt.4																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						c.(493-495)tcC>tcA		Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.							88.0	69.0	75.0					7																	128415066		2203	4300	6503	SO:0001819	synonymous_variant	611				phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity	g.chr7:128415066G>T	U53874	CCDS5806.1	7q31.3-q32	2013-01-08	2008-04-16		ENSG00000128617	ENSG00000128617		"""GPCR / Class A : Opsin receptors"""	1012	protein-coding gene	gene with protein product	"""color blindness, tritan"", ""blue-sensitive opsin"""	613522	"""blue cone photoreceptor pigment"""	BCP		2937147, 8270261	Standard	NM_001708		Approved	BOP, CBT	uc003vnt.4	P03999	OTTHUMG00000158311	ENST00000249389.2:c.495C>A	7.37:g.128415066G>T							p.S165S	NM_001708	NP_001699	P03999	OPSB_HUMAN			1	495	-			165					Q13877	Silent	SNP	ENST00000249389.2	37	c.495C>A	CCDS5806.1																																																																																				0.552	OPN1SW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350655.1	NM_001708	
ABCF2	10061	broad.mit.edu	37	7	150915908	150915908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:150915908G>A	ENST00000287844.2	-	9	1178	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ABCF2_ENST00000473874.1_5'UTR|ABCF2_ENST00000222388.2_Nonsense_Mutation_p.Q357*	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	357					transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGCTCTGGGCCTGCCGG	0.527																																						uc003wjo.1																			0				breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24						c.(1069-1071)Cag>Tag		Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.							117.0	107.0	110.0					7																	150915908		2203	4300	6503	SO:0001587	stop_gained	10061					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity	g.chr7:150915908G>A	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1069C>T	7.37:g.150915908G>A	ENSP00000287844:p.Gln357*					ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q357*	p.Q357*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	8	1180	-			357					O60864|Q75MJ0|Q75MJ1|Q96TE8	Nonsense_Mutation	SNP	ENST00000287844.2	37	c.1069C>T	CCDS5923.1	.	.	.	.	.	.	.	.	.	.	G	38	7.037369	0.98017	.	.	ENSG00000033050	ENST00000222388;ENST00000287844	.	.	.	5.21	5.21	0.72293	.	0.111020	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-21.5664	15.9438	0.79779	0.0:0.0:1.0:0.0	.	.	.	.	X	357	.	ENSP00000222388:Q357X	Q	-	1	0	ABCF2	150546841	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.139000	0.94554	2.423000	0.82170	0.563000	0.77884	CAG		0.527	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336086.1	NM_005692	
RAB11FIP1	80223	broad.mit.edu	37	8	37730590	37730590	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:37730590G>T	ENST00000330843.4	-	4	1742	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	577	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATTCAGAGGGGACAGATGC	0.557																																						uc003xkm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49						c.(1729-1731)cCc>cAc		Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.							69.0	63.0	65.0					8																	37730590		2203	4300	6503	SO:0001583	missense	80223				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding	g.chr8:37730590G>T	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1730C>A	8.37:g.37730590G>T	ENSP00000331342:p.Pro577His					RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	p.P577H	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	LUSC - Lung squamous cell carcinoma(8;3.62e-11)		3	1786	-		Lung NSC(58;0.118)|all_lung(54;0.195)	577			Ser-rich.		J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	37	c.1730C>A	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413733	0.62511	.	.	ENSG00000156675	ENST00000330843	T	0.12255	2.7	6.07	1.67	0.24075	.	0.685812	0.13312	N	0.397384	T	0.15565	0.0375	N	0.24115	0.695	0.09310	N	1	D	0.69078	0.997	P	0.55667	0.781	T	0.19063	-1.0317	10	0.36615	T	0.2	-1.2625	9.4909	0.38960	0.4338:0.0:0.5662:0.0	.	577	Q6WKZ4	RFIP1_HUMAN	H	577	ENSP00000331342:P577H	ENSP00000331342:P577H	P	-	2	0	RAB11FIP1	37849748	0.000000	0.05858	0.001000	0.08648	0.682000	0.39822	0.339000	0.19875	0.260000	0.21731	0.655000	0.94253	CCC		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
RALYL	138046	broad.mit.edu	37	8	85774532	85774532	+	Splice_Site	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:85774532T>C	ENST00000521268.1	+	6	1520	c.415T>C	c.(415-417)Tta>Cta	p.L139L	RALYL_ENST00000518566.1_Splice_Site_p.L128L|RALYL_ENST00000517638.1_Splice_Site_p.L152L|RALYL_ENST00000523850.1_Splice_Site_p.L66L|RALYL_ENST00000521376.1_Splice_Site_p.L50L|RALYL_ENST00000522455.1_Splice_Site_p.L139L|RALYL_ENST00000521695.1_Splice_Site_p.L139L	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	139							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTTGTAAAGGTTATTTGATTA	0.473																																						uc003yct.4																			0				endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						c.e6-1		Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.							43.0	42.0	42.0					8																	85774532		1859	4110	5969	SO:0001630	splice_region_variant	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774532T>C		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.414-1T>C	8.37:g.85774532T>C						RALYL_uc003ycq.4_Splice_Site_p.R138_splice|RALYL_uc003ycr.4_Splice_Site_p.R138_splice|RALYL_uc003ycs.4_Splice_Site_p.R138_splice|RALYL_uc010lzy.3_Splice_Site_p.R127_splice|RALYL_uc003ycu.4_Splice_Site_p.R65_splice	p.R151_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN			6	587	+			138					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Silent	SNP	ENST00000521268.1	37	c.453_splice	CCDS55253.1																																																																																				0.473	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		Silent
PLEC	5339	broad.mit.edu	37	8	144991998	144991998	+	Silent	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:144991998G>C	ENST00000322810.4	-	32	12571	c.12402C>G	c.(12400-12402)ggC>ggG	p.G4134G	PLEC_ENST00000398774.2_Silent_p.G3965G|PLEC_ENST00000527096.1_Silent_p.G4020G|PLEC_ENST00000436759.2_Silent_p.G4024G|PLEC_ENST00000354589.3_Silent_p.G3997G|PLEC_ENST00000356346.3_Silent_p.G3983G|PLEC_ENST00000354958.2_Silent_p.G3975G|PLEC_ENST00000357649.2_Silent_p.G4001G|PLEC_ENST00000345136.3_Silent_p.G3997G	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4134	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAACTCGGGGCCCACAATGC	0.622																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(12400-12402)ggC>ggG		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							45.0	53.0	50.0					8																	144991998		2184	4268	6452	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991998G>C	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.12402C>G	8.37:g.144991998G>C						PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	p.G4134G	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	12572	-			4134			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.12402C>G	CCDS43772.1																																																																																				0.622	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
UNC13B	10497	broad.mit.edu	37	9	35386179	35386179	+	Silent	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:35386179C>T	ENST00000378495.3	+	23	2958	c.2736C>T	c.(2734-2736)agC>agT	p.S912S	UNC13B_ENST00000396787.1_Silent_p.S924S|UNC13B_ENST00000378496.4_Silent_p.S912S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	912					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACTGCAAAGCCCTCCAAGAG	0.483																																						uc003zwr.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(2734-2736)agC>agT		Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.							78.0	83.0	82.0					9																	35386179		2203	4300	6503	SO:0001819	synonymous_variant	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35386179C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.2736C>T	9.37:g.35386179C>T						UNC13B_uc003zwq.3_Silent_p.S912S	p.S912S	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		22	3028	+	all_epithelial(49;0.212)		912					Q5VYM8	Silent	SNP	ENST00000378495.3	37	c.2736C>T	CCDS6579.1																																																																																				0.483	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
ZNF658	26149	broad.mit.edu	37	9	40772547	40772547	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:40772547A>C	ENST00000602553.1	-	5	3022	c.2728T>G	c.(2728-2730)Tat>Gat	p.Y910D	ZNF658_ENST00000377626.3_Missense_Mutation_p.Y910D|ZNF658_ENST00000441795.1_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	910					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCATTCATAGGGTTTCTCC	0.448																																						uc004abs.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.(2728-2730)Tat>Gat		Homo sapiens zinc finger protein 658 (ZNF658), mRNA.							93.0	92.0	93.0					9																	40772547		2201	4279	6480	SO:0001583	missense	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40772547A>C	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.2728T>G	9.37:g.40772547A>C	ENSP00000473484:p.Tyr910Asp					ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	p.Y910D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	4	2880	-			910					Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Missense_Mutation	SNP	ENST00000602553.1	37	c.2728T>G	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	a	14.24	2.475562	0.43942	.	.	ENSG00000196409	ENST00000377626	T	0.25579	1.79	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58481	0.2125	H	0.97758	4.07	0.29242	N	0.872584	D	0.65815	0.995	P	0.62089	0.898	T	0.57376	-0.7822	9	0.87932	D	0	.	7.7326	0.28796	1.0:0.0:0.0:0.0	.	910	Q5TYW1	ZN658_HUMAN	D	910	ENSP00000366853:Y910D	ENSP00000366853:Y910D	Y	-	1	0	ZNF658	40762547	0.005000	0.15991	0.981000	0.43875	0.979000	0.70002	2.011000	0.40922	1.131000	0.42111	0.423000	0.28283	TAT		0.448	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
PTPDC1	138639	broad.mit.edu	37	9	96859671	96859671	+	Missense_Mutation	SNP	C	C	T	rs547059455		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:96859671C>T	ENST00000375360.3	+	7	1001	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R273W	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	221	Tyrosine-protein phosphatase.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R273W(1)|p.R221W(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TATATTTGTGCGGGCAAAGCG	0.418													.|||	1	0.000199681	0.0	0.0	5008	,	,		18703	0.0		0.001	False		,,,				2504	0.0					uc010mrj.2																			2	Substitution - Missense(2)	p.R273W(1)|p.R221W(1)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						c.(823-825)Cgg>Tgg		Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.							71.0	69.0	70.0					9																	96859671		2203	4300	6503	SO:0001583	missense	138639						protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr9:96859671C>T	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.661C>T	9.37:g.96859671C>T	ENSP00000364509:p.Arg221Trp					PTPDC1_uc004auf.2_Missense_Mutation_p.R221W|PTPDC1_uc004aug.2_Missense_Mutation_p.R221W|PTPDC1_uc004auh.2_Missense_Mutation_p.R273W|PTPDC1_uc010mri.2_Missense_Mutation_p.R273W	p.R275W	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN			5	925	+			221					Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Missense_Mutation	SNP	ENST00000375360.3	37	c.823C>T	CCDS6707.1	.	.	.	.	.	.	.	.	.	.	.	19.44	3.827852	0.71143	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	T;T	0.36520	1.25;1.25	5.55	5.55	0.83447	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	H	0.98089	4.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.83289	-0.0034	10	0.87932	D	0	-22.0637	14.0246	0.64577	0.1607:0.8393:0.0:0.0	.	275;273;275;221	E7EN59;A2A3K4-2;A8K0X7;A2A3K4	.;.;.;PTPC1_HUMAN	W	221;273	ENSP00000364509:R221W;ENSP00000288976:R273W	ENSP00000288976:R273W	R	+	1	2	PTPDC1	95899492	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.596000	0.54024	2.610000	0.88304	0.591000	0.81541	CGG		0.418	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1	NM_177995, NM_152422	
CLCN4	1183	broad.mit.edu	37	X	10181901	10181901	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:10181901T>C	ENST00000380833.4	+	11	2148	c.1757T>C	c.(1756-1758)gTg>gCg	p.V586A	CLCN4_ENST00000421085.2_Missense_Mutation_p.V492A|AC003666.1_ENST00000410201.1_RNA|CLCN4_ENST00000380829.1_Missense_Mutation_p.V555A	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	586					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTTGACGTGAAGGACGAG	0.597																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.4																			0		p.V586M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(1756-1758)gTg>gCg		Homo sapiens chloride channel 4 (CLCN4), mRNA.							113.0	74.0	88.0					X																	10181901		2203	4300	6503	SO:0001583	missense	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10181901T>C	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.1757T>C	X.37:g.10181901T>C	ENSP00000370213:p.Val586Ala					CLCN4_uc011mid.2_Missense_Mutation_p.V492A	p.V586A	NM_001830	NP_001821	P51793	CLCN4_HUMAN			10	2187	+			586					A1L3U1|B7Z5Z4|Q9UBU1	Missense_Mutation	SNP	ENST00000380833.4	37	c.1757T>C	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	T	0.065	-1.215287	0.01542	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085	D;D;D	0.87412	-2.25;-2.25;-2.25	5.28	5.28	0.74379	Chloride channel, core (2);	0.178514	0.47852	D	0.000206	T	0.72203	0.3431	N	0.05280	-0.08	0.53688	D	0.999979	B	0.02656	0.0	B	0.04013	0.001	T	0.67604	-0.5628	10	0.08381	T	0.77	-36.1607	14.3586	0.66754	0.0:0.0:0.0:1.0	.	586	P51793	CLCN4_HUMAN	A	586;555;492	ENSP00000370213:V586A;ENSP00000370209:V555A;ENSP00000405754:V492A	ENSP00000370209:V555A	V	+	2	0	CLCN4	10141901	1.000000	0.71417	0.992000	0.48379	0.059000	0.15707	2.967000	0.49216	1.771000	0.52183	0.486000	0.48141	GTG		0.597	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1		
NHS	4810	broad.mit.edu	37	X	17743937	17743937	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:17743937A>T	ENST00000380060.3	+	6	1986	c.1648A>T	c.(1648-1650)Agc>Tgc	p.S550C	NHS_ENST00000398097.3_Missense_Mutation_p.S394C	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	571					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACATCTTCACAGCCCCCAGCA	0.557																																						uc011mix.2																			0				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71						c.(1711-1713)Agc>Tgc		Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.							68.0	57.0	61.0					X																	17743937		2203	4300	6503	SO:0001583	missense	4810					nucleus		g.chrX:17743937A>T		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1648A>T	X.37:g.17743937A>T	ENSP00000369400:p.Ser550Cys					NHS_uc004cxx.3_Missense_Mutation_p.S550C|NHS_uc004cxy.3_Missense_Mutation_p.S394C|NHS_uc004cxz.3_Missense_Mutation_p.S373C|NHS_uc004cya.3_Missense_Mutation_p.S273C	p.S571C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN			6	2049	+	Hepatocellular(33;0.183)		550					B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	c.1711A>T	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	A	17.73	3.461367	0.63513	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.53857	0.6;0.62	5.86	5.86	0.93980	.	0.076852	0.85682	D	0.000000	T	0.73434	0.3586	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.77125	-0.2703	10	0.72032	D	0.01	-4.8004	15.2047	0.73169	1.0:0.0:0.0:0.0	.	571;392;394;550	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	C	550;394;392	ENSP00000369400:S550C;ENSP00000381170:S394C	ENSP00000369397:S392C	S	+	1	0	NHS	17653858	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	1.974000	0.57490	0.486000	0.48141	AGC		0.557	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
SMC1A	8243	broad.mit.edu	37	X	53409449	53409449	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:53409449A>G	ENST00000322213.4	-	21	3390	c.3263T>C	c.(3262-3264)cTg>cCg	p.L1088P	SMC1A_ENST00000469129.1_5'UTR	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	1088					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTGCGGGACAGGGCCTTATA	0.527																																						uc004dsg.3																			0		p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(3262-3264)cTg>cCg		Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.							73.0	58.0	63.0					X																	53409449		2203	4300	6503	SO:0001583	missense	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53409449A>G	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.3263T>C	X.37:g.53409449A>G	ENSP00000323421:p.Leu1088Pro					SMC1A_uc011moe.2_Missense_Mutation_p.L1066P	p.L1088P	NM_006306	NP_006297	Q14683	SMC1A_HUMAN			20	3332	-			1088					O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	c.3263T>C	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.967589	0.74131	.	.	ENSG00000072501	ENST00000322213	D	0.87103	-2.21	5.45	5.45	0.79879	RecF/RecN/SMC (1);	0.000000	0.64402	D	0.000002	D	0.95118	0.8418	H	0.94385	3.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96207	0.9150	10	0.87932	D	0	.	13.6717	0.62430	1.0:0.0:0.0:0.0	.	1088	Q14683	SMC1A_HUMAN	P	1088	ENSP00000323421:L1088P	ENSP00000323421:L1088P	L	-	2	0	SMC1A	53426174	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.171000	0.94802	1.940000	0.56252	0.486000	0.48141	CTG		0.527	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTAGGAAGTCGATCTCTTAAT	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.4				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		2	Substitution - Nonsense(1)|Unknown(1)	p.R907*(2)|p.?(1)	lung(1)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(2719-2721)Cga>Tga		Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	Phosphatidylserine(DB00144)						189.0	173.0	179.0					X																	76938029		2203	4296	6499	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76938029G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.2719C>T	X.37:g.76938029G>A	ENSP00000362441:p.Arg907*					ATRX_uc004ecq.4_Nonsense_Mutation_p.R869*|ATRX_uc004eco.4_Nonsense_Mutation_p.R692*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R839*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R878*|ATRX_uc010nly.1_Nonsense_Mutation_p.R852*	p.R907*	NM_000489	NP_000480	P46100	ATRX_HUMAN			8	2951	-			907					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.2719C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	39	7.819821	0.98507	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.79	0.503	0.16940	.	2.134250	0.02681	N	0.109696	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	10.841	4.5137	0.11924	0.0688:0.1999:0.2703:0.461	.	.	.	.	X	907;869;834	.	ENSP00000362441:R907X	R	-	1	2	ATRX	76824685	0.000000	0.05858	0.000000	0.03702	0.502000	0.33828	-0.689000	0.05144	-0.111000	0.12001	0.513000	0.50165	CGA		0.418	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	
PGK1	5230	broad.mit.edu	37	X	77372859	77372860	+	Missense_Mutation	DNP	GC	GC	CT			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:77372859_77372860GC>CT	ENST00000373316.4	+	5	635_636	c.468_469GC>CT	c.(466-471)aaGCta>aaCTta	p.K156N	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.K128N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	156					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	CACTTTCCAAGCTAGGGGATGT	0.426																																						uc004ecz.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						c.(466-471)aagcta>aaCTta		Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.																																				SO:0001583	missense	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77372859_77372860GC>CT	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	Exception_encountered	X.37:g.77372859_77372860delinsCT	ENSP00000362413:p.Lys156Asn					PGK1_uc011mqq.2_Missense_Mutation_p.K128N	p.K156N	NM_000291	NP_000282	P00558	PGK1_HUMAN			4	640_641	+			156					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Missense_Mutation	DNP	ENST00000373316.4	37	c.468_469GC>CT	CCDS14438.1																																																																																				0.426	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1		
CXorf57	55086	broad.mit.edu	37	X	105882786	105882786	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882786G>C	ENST00000372548.4	+	9	1712	c.1603G>C	c.(1603-1605)Gtc>Ctc	p.V535L	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	535							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAAGTGAAGTCAGGAAGGA	0.363																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1603-1605)Gtc>Ctc		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							116.0	106.0	110.0					X																	105882786		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882786G>C	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1603G>C	X.37:g.105882786G>C	ENSP00000361628:p.Val535Leu					CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	p.V535L	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			8	1754	+			535					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1603G>C	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	8.436	0.849828	0.17034	.	.	ENSG00000147231	ENST00000372548	T	0.55052	0.54	5.19	2.17	0.27698	.	0.161196	0.42294	N	0.000736	T	0.27169	0.0666	N	0.25144	0.715	0.80722	D	1	B	0.27625	0.183	B	0.24974	0.057	T	0.05007	-1.0912	10	0.08381	T	0.77	-7.0604	2.5395	0.04722	0.0988:0.1368:0.4283:0.3361	.	535	Q6NSI4	CX057_HUMAN	L	535	ENSP00000361628:V535L	ENSP00000361628:V535L	V	+	1	0	CXorf57	105769442	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	0.508000	0.22692	0.622000	0.30249	0.538000	0.68166	GTC		0.363	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
CXorf57	55086	broad.mit.edu	37	X	105882797	105882797	+	Missense_Mutation	SNP	G	G	C			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882797G>C	ENST00000372548.4	+	9	1723	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	MIR548AN_ENST00000408286.2_RNA|CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	538							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGGAAGGAGATTGAAGACT	0.373																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1612-1614)gaG>gaC		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							126.0	115.0	119.0					X																	105882797		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105882797G>C	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1614G>C	X.37:g.105882797G>C	ENSP00000361628:p.Glu538Asp					CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	p.E538D	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			8	1765	+			538					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.1614G>C	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523302	0.44866	.	.	ENSG00000147231	ENST00000372548	T	0.67345	-0.26	5.19	4.33	0.51752	.	0.323197	0.31636	N	0.007306	T	0.61223	0.2330	L	0.55481	1.735	0.80722	D	1	P	0.50272	0.933	B	0.44278	0.445	T	0.61724	-0.7004	10	0.46703	T	0.11	-0.806	8.0037	0.30313	0.0903:0.1574:0.7523:0.0	.	538	Q6NSI4	CX057_HUMAN	D	538	ENSP00000361628:E538D	ENSP00000361628:E538D	E	+	3	2	CXorf57	105769453	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.624000	0.46444	1.256000	0.44068	0.538000	0.68166	GAG		0.373	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
SLITRK2	84631	broad.mit.edu	37	X	144906297	144906297	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:144906297C>T	ENST00000370490.1	+	1	6609	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	SLITRK2_ENST00000434188.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000447897.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000413937.2_Missense_Mutation_p.A785V|SLITRK2_ENST00000428560.2_Missense_Mutation_p.A785V|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	785					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGTTTGCCCCTTCCTAT	0.453																																						uc022cfn.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2353-2355)gCc>gTc		Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.							138.0	127.0	131.0					X																	144906297		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144906297C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2354C>T	X.37:g.144906297C>T	ENSP00000359521:p.Ala785Val					SLITRK2_uc004fcd.3_Missense_Mutation_p.A785V|SLITRK2_uc010nsp.3_Missense_Mutation_p.A785V|SLITRK2_uc010nso.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.2_Missense_Mutation_p.A785V|SLITRK2_uc011mws.2_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.2_Missense_Mutation_p.A785V|CXorf1_uc004fch.3_5'Flank	p.A785V	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			0	2354	+	Acute lymphoblastic leukemia(192;6.56e-05)		785					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.2354C>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792042	0.31685	.	.	ENSG00000185985	ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.38	5.38	0.77491	.	0.404245	0.25830	N	0.028026	T	0.37598	0.1009	L	0.40543	1.245	0.29755	N	0.836018	B	0.06786	0.001	B	0.09377	0.004	T	0.31613	-0.9937	10	0.46703	T	0.11	-9.5644	9.194	0.37217	0.0:0.8999:0.0:0.1001	.	785	Q9H156	SLIK2_HUMAN	V	785	ENSP00000411681:A785V;ENSP00000359521:A785V;ENSP00000397015:A785V;ENSP00000407347:A785V;ENSP00000412010:A785V	ENSP00000359521:A785V	A	+	2	0	SLITRK2	144713989	1.000000	0.71417	0.991000	0.47740	0.993000	0.82548	3.151000	0.50670	2.251000	0.74343	0.600000	0.82982	GCC		0.453	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
