#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SCN7A	6332	broad.mit.edu	37	2	167284432	167284432	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:167284432G>T	ENST00000409855.1	-	17	2845	c.2719C>A	c.(2719-2721)Ctt>Att	p.L907I		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	907					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	ATTTGACCAAGTGAAGATCCG	0.378																																						ENST00000409855.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						c.(2719-2721)Ctt>Att		sodium channel, voltage-gated, type VII, alpha subunit							107.0	99.0	102.0					2																	167284432		1867	4099	5966	SO:0001583	missense	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167284432G>T	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.2719C>A	2.37:g.167284432G>T	ENSP00000386796:p.Leu907Ile						p.L907I	NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN			17	2845	-			907						Missense_Mutation	SNP	ENST00000409855.1	37	c.2719C>A	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346829	0.41599	.	.	ENSG00000136546	ENST00000409855;ENST00000259060	D	0.83250	-1.7	5.64	-5.7	0.02421	Sodium ion transport-associated (1);	1.694050	0.02716	N	0.113390	T	0.58278	0.2111	N	0.02539	-0.55	0.09310	N	1	B	0.24483	0.104	B	0.25614	0.062	T	0.52094	-0.8621	10	0.87932	D	0	.	1.4922	0.02459	0.4283:0.0936:0.2272:0.2508	.	907	Q01118	SCN7A_HUMAN	I	907	ENSP00000386796:L907I	ENSP00000259060:L907I	L	-	1	0	SCN7A	166992678	0.000000	0.05858	0.006000	0.13384	0.142000	0.21351	0.147000	0.16202	-1.122000	0.02945	0.591000	0.81541	CTT		0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			9	32	1	0	1.76689e-08	1	1.95663e-08	9	32				
CTDNEP1	23399	broad.mit.edu	37	17	7150405	7150405	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:7150405G>A	ENST00000573600.1	-	4	687	c.266C>T	c.(265-267)aCg>aTg	p.T89M	CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.T89M|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.T89M|RP1-4G17.5_ENST00000577138.1_3'UTR			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	89	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCAGGAGGCGTACCAGGCCG	0.562																																						ENST00000573600.1																			0				central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(265-267)aCg>aTg		CTD nuclear envelope phosphatase 1							96.0	87.0	90.0					17																	7150405		2203	4300	6503	SO:0001583	missense	23399				nuclear envelope organization|protein dephosphorylation	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	protein serine/threonine phosphatase activity	g.chr17:7150405G>A	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.266C>T	17.37:g.7150405G>A	ENSP00000461749:p.Thr89Met					RP1-4G17.5_ENST00000577138.1_3'UTR|CTDNEP1_ENST00000572043.1_De_novo_Start_InFrame|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.T89M|CTDNEP1_ENST00000318988.6_Missense_Mutation_p.T89M	p.T89M			O95476	CNEP1_HUMAN			4	687	-			89			FCP1 homology.		D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	c.266C>T	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733181	0.69189	.	.	ENSG00000175826	ENST00000318988	T	0.17691	2.26	5.34	5.34	0.76211	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	L	0.53671	1.685	0.80722	D	1	P	0.42039	0.769	B	0.39379	0.298	T	0.01010	-1.1482	10	0.54805	T	0.06	-6.4446	16.5715	0.84613	0.0:0.0:1.0:0.0	.	89	O95476	CNEP1_HUMAN	M	89	ENSP00000321732:T89M	ENSP00000321732:T89M	T	-	2	0	CTDNEP1	7091129	1.000000	0.71417	0.972000	0.41901	0.994000	0.84299	8.369000	0.90118	2.776000	0.95493	0.650000	0.86243	ACG		0.562	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343		4	91	0	0	0	1	0	4	91				
PCK2	5106	broad.mit.edu	37	14	24572907	24572907	+	Missense_Mutation	SNP	C	C	T	rs374328821		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:24572907C>T	ENST00000216780.4	+	10	1925	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	PCK2_ENST00000545054.2_Missense_Mutation_p.R419W|NRL_ENST00000561028.1_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000558096.1_Missense_Mutation_p.R387W|PCK2_ENST00000561286.1_Missense_Mutation_p.R419W	NM_004563.2	NP_004554.2	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	553					carbohydrate metabolic process (GO:0005975)|cellular response to glucose stimulus (GO:0071333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|NADH oxidation (GO:0006116)|oxaloacetate metabolic process (GO:0006107)|positive regulation of insulin secretion (GO:0032024)|pyruvate metabolic process (GO:0006090)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phosphoenolpyruvate carboxykinase (GTP) activity (GO:0004613)|phosphoenolpyruvate carboxykinase activity (GO:0004611)			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		GGAGAATGCTCGGGTGCTAGA	0.637																																						ENST00000545054.2																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18						c.(1255-1257)Cgg>Tgg		phosphoenolpyruvate carboxykinase 2 (mitochondrial)		C	TRP/ARG	0,4406		0,0,2203	69.0	75.0	73.0		1657	5.6	1.0	14		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	PCK2	NM_004563.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	553/641	24572907	1,13005	2203	4300	6503	SO:0001583	missense	5106				gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	g.chr14:24572907C>T	AK129934	CCDS9609.1, CCDS41928.1	14q12	2006-06-09			ENSG00000100889	ENSG00000100889	4.1.1.32		8725	protein-coding gene	gene with protein product		614095				8645161, 9657976	Standard	XM_005267726		Approved	PEPCK, PEPCK2	uc001wlt.3	Q16822	OTTHUMG00000028791	ENST00000216780.4:c.1657C>T	14.37:g.24572907C>T	ENSP00000216780:p.Arg553Trp					PCK2_ENST00000561286.1_Missense_Mutation_p.R419W|PCK2_ENST00000558096.1_Missense_Mutation_p.R387W|PCK2_ENST00000559250.1_Intron|NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Missense_Mutation_p.R553W	p.R419W			Q16822	PCKGM_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	10	2173	+			553					O43253|Q86U01|Q9BV62	Missense_Mutation	SNP	ENST00000216780.4	37	c.1255C>T	CCDS9609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171836	0.94807	0.0	1.16E-4	ENSG00000100889	ENST00000216780;ENST00000545054	T;T	0.08370	3.1;3.1	5.57	5.57	0.84162	Phosphoenolpyruvate carboxykinase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32912	0.0845	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02126	-1.1209	10	0.87932	D	0	-9.3642	17.4188	0.87508	0.0:1.0:0.0:0.0	.	419;553	B4DW73;Q16822	.;PCKGM_HUMAN	W	553;419	ENSP00000216780:R553W;ENSP00000441826:R419W	ENSP00000216780:R553W	R	+	1	2	PCK2	23642747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.055000	0.71103	2.793000	0.96121	0.655000	0.94253	CGG		0.637	PCK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071900.3	NM_001018073		18	86	0	0	0	1	0	18	86				
IFNL3	282617	broad.mit.edu	37	19	39734470	39734470	+	Silent	SNP	T	T	G	rs544442278	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:39734470T>G	ENST00000413851.2	-	4	524	c.486A>C	c.(484-486)ccA>ccC	p.P162P		NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	162					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											TCACCTTTTTTGGGGCCTCCT	0.682													T|||	9	0.00179712	0.0008	0.0014	5008	,	,		13971	0.004		0.003	False		,,,				2504	0.0					ENST00000413851.2																			0											c.(484-486)ccA>ccC		interferon, lambda 3							25.0	32.0	30.0					19																	39734470		2203	4298	6501	SO:0001819	synonymous_variant	282617							g.chr19:39734470T>G	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.486A>C	19.37:g.39734470T>G							p.P162P	NM_172139.2	NP_742151.2					4	524	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Silent	SNP	ENST00000413851.2	37	c.486A>C	CCDS12530.1																																																																																				0.682	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		30	62	0	0	0	1	0	30	62				
USH2A	7399	broad.mit.edu	37	1	216371878	216371878	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:216371878T>A	ENST00000307340.3	-	18	4246	c.3860A>T	c.(3859-3861)aAa>aTa	p.K1287I	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.K1287I|USH2A_ENST00000366943.2_Missense_Mutation_p.K1287I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1287	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGGTTTCTTTAGTAGATCT	0.368										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3859-3861)aAa>aTa		Usher syndrome 2A (autosomal recessive, mild)							95.0	93.0	93.0					1																	216371878		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371878T>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3860A>T	1.37:g.216371878T>A	ENSP00000305941:p.Lys1287Ile	HNSCC(13;0.011)				RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.K1287I|USH2A_ENST00000366942.3_Missense_Mutation_p.K1287I	p.K1287I			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4246	-			1287			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3860A>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	7.531	0.658723	0.14645	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58210	0.35;0.35;0.35	5.16	1.59	0.23543	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.699643	0.11417	U	0.566204	T	0.39384	0.1076	N	0.19112	0.55	0.09310	N	1	B;B	0.32939	0.005;0.391	B;B	0.38428	0.001;0.273	T	0.35226	-0.9797	10	0.52906	T	0.07	.	8.3395	0.32235	0.0:0.4156:0.0:0.5844	.	1287;1287	O75445-2;O75445	.;USH2A_HUMAN	I	1287	ENSP00000305941:K1287I;ENSP00000355910:K1287I;ENSP00000355909:K1287I	ENSP00000305941:K1287I	K	-	2	0	USH2A	214438501	0.000000	0.05858	0.150000	0.22450	0.179000	0.23085	0.254000	0.18314	0.464000	0.27142	0.528000	0.53228	AAA		0.368	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		15	38	0	0	0	1	0	15	38				
TVP23B	51030	broad.mit.edu	37	17	18708852	18708852	+	Splice_Site	SNP	A	A	G	rs2589696		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:18708852A>G	ENST00000307767.8	+	7	890		c.e7-1		TVP23B_ENST00000581733.1_Splice_Site|TVP23B_ENST00000476139.1_Splice_Site	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)											TGTCTTTTGCAGAACACTGGA	0.368																																						ENST00000476139.1																			0											c.e7-1		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							113.0	100.0	104.0					17																	18708852		1849	4083	5932	SO:0001630	splice_region_variant	51030							g.chr17:18708852A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.592-1A>G	17.37:g.18708852A>G						TVP23B_ENST00000581733.1_Splice_Site|TVP23B_ENST00000307767.8_Splice_Site								7	1815	+								A8K448|Q96HK5|Q9Y3E6	Splice_Site	SNP	ENST00000307767.8	37		CCDS42274.1	19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	A	3.616	-0.078582	0.07141	.	.	ENSG00000171928	ENST00000307767	.	.	.	2.57	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.602	0.12357	0.8326:0.0:0.1674:0.0	rs2589696	.	.	.	.	-1	.	.	.	+	.	.	FAM18B1	18649577	1.000000	0.71417	0.757000	0.31301	0.305000	0.27757	3.799000	0.55529	0.228000	0.21019	-1.211000	0.01629	.		0.368	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	Intron	4	70	0	0	0	1	0	4	70				
CEPT1	10390	broad.mit.edu	37	1	111702087	111702087	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:111702087G>T	ENST00000545121.1	+	3	633	c.425G>T	c.(424-426)aGa>aTa	p.R142I	CEPT1_ENST00000357172.4_Missense_Mutation_p.R142I	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	142					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)	p.R142K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	CAGGCAAGAAGAACCAATAGT	0.368																																						ENST00000545121.1																			1	Substitution - Missense(1)	p.R142K(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8						c.(424-426)aGa>aTa		choline/ethanolamine phosphotransferase 1	Choline(DB00122)						155.0	156.0	156.0					1																	111702087		2203	4300	6503	SO:0001583	missense	10390					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding	g.chr1:111702087G>T	AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.425G>T	1.37:g.111702087G>T	ENSP00000441980:p.Arg142Ile					CEPT1_ENST00000357172.4_Missense_Mutation_p.R142I	p.R142I	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	3	633	+		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)	142					Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	c.425G>T	CCDS830.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009790	0.93346	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.49139	0.79;0.79	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	H	0.94306	3.52	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.82032	-0.0658	10	0.87932	D	0	-40.8446	16.3671	0.83335	0.0:0.0:1.0:0.0	.	142;142	Q9Y6K0;B3KN25	CEPT1_HUMAN;.	I	142	ENSP00000441980:R142I;ENSP00000349696:R142I	ENSP00000349696:R142I	R	+	2	0	CEPT1	111503610	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.450000	0.82876	0.655000	0.94253	AGA		0.368	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		27	72	1	0	8.24728e-16	1	1.008e-15	27	72				
SIM1	6492	broad.mit.edu	37	6	100841613	100841613	+	Silent	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:100841613C>G	ENST00000369208.3	-	11	2102	c.1320G>C	c.(1318-1320)tcG>tcC	p.S440S	SIM1_ENST00000262901.4_Silent_p.S440S			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	440	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S440S(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGCTGCGGTCCGAAAACTGTC	0.622																																						ENST00000369208.3																			2	Substitution - coding silent(2)	p.S440S(2)	large_intestine(1)|endometrium(1)	breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79						c.(1318-1320)tcG>tcC		single-minded family bHLH transcription factor 1							84.0	79.0	81.0					6																	100841613		2203	4300	6503	SO:0001819	synonymous_variant	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100841613C>G	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1320G>C	6.37:g.100841613C>G						SIM1_ENST00000262901.4_Silent_p.S440S	p.S440S			P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	11	2102	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	440			Single-minded C-terminal.		Q5TDP7	Silent	SNP	ENST00000369208.3	37	c.1320G>C	CCDS5045.1																																																																																				0.622	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		33	105	0	0	0	1	0	33	105				
DOCK8	81704	broad.mit.edu	37	9	418112	418112	+	Missense_Mutation	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:418112C>G	ENST00000453981.1	+	30	3857	c.3745C>G	c.(3745-3747)Caa>Gaa	p.Q1249E	DOCK8_ENST00000432829.2_Missense_Mutation_p.Q1181E|DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1149E|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q716E			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1249					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GGATGAAGAACAAGAAGGAGC	0.453																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3541-3543)Caa>Gaa		dedicator of cytokinesis 8							120.0	120.0	120.0					9																	418112		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:418112C>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3745C>G	9.37:g.418112C>G	ENSP00000408464:p.Gln1249Glu					DOCK8_ENST00000469391.1_Missense_Mutation_p.Q1149E|DOCK8_ENST00000382329.1_Missense_Mutation_p.Q716E|DOCK8_ENST00000453981.1_Missense_Mutation_p.Q1249E	p.Q1181E	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	30	3857	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1249					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3541C>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035345	0.35893	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.21361	2.01;2.01;2.01;2.01	5.92	5.92	0.95590	.	0.317552	0.35970	N	0.002866	T	0.12220	0.0297	N	0.19112	0.55	0.39226	D	0.963594	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.06679	-1.0813	10	0.02654	T	1	.	13.5144	0.61533	0.0:0.9293:0.0:0.0707	.	1149;716;1249	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	E	1249;1217;1181;1149;716	ENSP00000408464:Q1249E;ENSP00000394888:Q1181E;ENSP00000419438:Q1149E;ENSP00000371766:Q716E	ENSP00000287364:Q1217E	Q	+	1	0	DOCK8	408112	0.969000	0.33509	1.000000	0.80357	0.886000	0.51366	1.565000	0.36386	2.822000	0.97130	0.650000	0.86243	CAA		0.453	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		47	56	0	0	0	1	0	47	56				
CETN1	1068	broad.mit.edu	37	18	580870	580870	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr18:580870C>T	ENST00000327228.3	+	1	504	c.462C>T	c.(460-462)gaC>gaT	p.D154D		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	154	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGATGGGGACGGCGAAGTGA	0.542																																						ENST00000327228.3																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						c.(460-462)gaC>gaT		centrin, EF-hand protein, 1							87.0	84.0	85.0					18																	580870		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580870C>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.462C>T	18.37:g.580870C>T							p.D154D	NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN			1	504	+			154			EF-hand 4.		B2R536	Silent	SNP	ENST00000327228.3	37	c.462C>T	CCDS11820.1																																																																																				0.542	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		43	57	0	0	0	1	0	43	57				
COL1A2	1278	broad.mit.edu	37	7	94052415	94052415	+	Silent	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:94052415A>T	ENST00000297268.6	+	40	3021	c.2550A>T	c.(2548-2550)ggA>ggT	p.G850G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	850			Missing (in OI2). {ECO:0000269|PubMed:1339453}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCCTCTGGAGAGGCTGGTA	0.498										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(2548-2550)ggA>ggT		collagen, type I, alpha 2	Collagenase(DB00048)						121.0	112.0	115.0					7																	94052415		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94052415A>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.2550A>T	7.37:g.94052415A>T		HNSCC(75;0.22)					p.G850G	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		40	3021	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		850		Missing (in OI2A).			P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.2550A>T	CCDS34682.1																																																																																				0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		29	79	0	0	0	1	0	29	79				
FAT3	120114	broad.mit.edu	37	11	92615974	92615974	+	Missense_Mutation	SNP	G	G	A	rs369315276		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92615974G>A	ENST00000298047.6	+	23	12369	c.12352G>A	c.(12352-12354)Ggc>Agc	p.G4118S	FAT3_ENST00000533797.1_Missense_Mutation_p.G453S|FAT3_ENST00000525166.1_Missense_Mutation_p.G3968S|FAT3_ENST00000409404.2_Missense_Mutation_p.G4118S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4118	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAACGTGTTCGGCTCCTTCCT	0.642										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12352-12354)Ggc>Agc		FAT atypical cadherin 3		G	SER/GLY	0,4286		0,0,2143	67.0	90.0	82.0		12352	5.4	1.0	11		82	1,8469		0,1,4234	no	missense	FAT3	NM_001008781.2	56	0,1,6377	AA,AG,GG		0.0118,0.0,0.0078	possibly-damaging	4118/4558	92615974	1,12755	2143	4235	6378	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92615974G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12352G>A	11.37:g.92615974G>A	ENSP00000298047:p.Gly4118Ser	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.G4118S|FAT3_ENST00000533797.1_Missense_Mutation_p.G453S|FAT3_ENST00000525166.1_Missense_Mutation_p.G3968S	p.G4118S			Q8TDW7	FAT3_HUMAN			23	12369	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4118			EGF-like 4; calcium-binding (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12352G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.625094	0.96671	0.0	1.18E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.99552	-6.15;-6.15;-6.15;-6.15	5.37	5.37	0.77165	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99557	0.9841	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.969	D	0.99107	1.0845	9	0.39692	T	0.17	.	19.4627	0.94924	0.0:0.0:1.0:0.0	.	4118;4118	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	S	4118;4118;3968;453	ENSP00000298047:G4118S;ENSP00000387040:G4118S;ENSP00000432586:G3968S;ENSP00000436399:G453S	ENSP00000298047:G4118S	G	+	1	0	FAT3	92255622	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.690000	0.98676	2.668000	0.90789	0.655000	0.94253	GGC		0.642	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	11	0	0	0	1	0	5	11				
CDK8	1024	broad.mit.edu	37	13	26959350	26959350	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:26959350G>A	ENST00000381527.3	+	6	1020	c.517G>A	c.(517-519)Gac>Aac	p.D173N	CDK8_ENST00000536792.1_Silent_p.L153L	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	173	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TTTTACAGCTGACATGGGCTT	0.333																																						ENST00000381527.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25						c.(517-519)Gac>Aac		cyclin-dependent kinase 8							58.0	59.0	59.0					13																	26959350		2203	4300	6503	SO:0001583	missense	1024				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr13:26959350G>A	X85753	CCDS9317.1	13q12	2011-11-08			ENSG00000132964	ENSG00000132964		"""Cyclin-dependent kinases"""	1779	protein-coding gene	gene with protein product		603184				7568034	Standard	NM_001260		Approved	K35	uc001uqr.1	P49336	OTTHUMG00000016617	ENST00000381527.3:c.517G>A	13.37:g.26959350G>A	ENSP00000370938:p.Asp173Asn					CDK8_ENST00000536792.1_Silent_p.L153L	p.D173N	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)	6	1020	+	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)	173			Protein kinase.		Q5VUF3|Q6ISB5	Missense_Mutation	SNP	ENST00000381527.3	37	c.517G>A	CCDS9317.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586216	0.86851	.	.	ENSG00000132964	ENST00000381527	D	0.92965	-3.14	5.72	5.72	0.89469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97517	0.9187	H	0.95745	3.715	0.80722	D	1	D;D	0.67145	0.995;0.996	D;D	0.75484	0.975;0.986	D	0.98183	1.0458	10	0.87932	D	0	-15.8684	19.8631	0.96790	0.0:0.0:1.0:0.0	.	173;173	P49336-2;P49336	.;CDK8_HUMAN	N	173	ENSP00000370938:D173N	ENSP00000370938:D173N	D	+	1	0	CDK8	25857350	1.000000	0.71417	1.000000	0.80357	0.550000	0.35303	9.428000	0.97476	2.695000	0.91970	0.650000	0.86243	GAC		0.333	CDK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044250.1			24	23	0	0	0	1	0	24	23				
DCLK2	166614	broad.mit.edu	37	4	151000230	151000230	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:151000230A>T	ENST00000296550.7	+	1	805	c.51A>T	c.(49-51)aaA>aaT	p.K17N	DCLK2_ENST00000302176.8_Missense_Mutation_p.K17N|DCLK2_ENST00000506325.1_Missense_Mutation_p.K17N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	17					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AACGGGACAAAAGGCCGCGGC	0.697																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26						c.(49-51)aaA>aaT		doublecortin-like kinase 2							13.0	18.0	16.0					4																	151000230		2145	4270	6415	SO:0001583	missense	166614				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity	g.chr4:151000230A>T	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.51A>T	4.37:g.151000230A>T	ENSP00000296550:p.Lys17Asn					DCLK2_ENST00000302176.8_Missense_Mutation_p.K17N|DCLK2_ENST00000506325.1_Missense_Mutation_p.K17N	p.K17N	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN			1	805	+	all_hematologic(180;0.151)		17					C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	37	c.51A>T	CCDS34076.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.378129	0.82682	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.71341	-0.56;-0.56;-0.52	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.80226	0.4584	M	0.72118	2.19	0.44780	D	0.99778	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.996;0.999;0.99	T	0.81362	-0.0967	10	0.87932	D	0	.	7.0966	0.25313	0.8634:0.0:0.1366:0.0	.	17;17;17	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	N	17	ENSP00000296550:K17N;ENSP00000427235:K17N;ENSP00000303887:K17N	ENSP00000296550:K17N	K	+	3	2	DCLK2	151219680	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.793000	0.38764	2.026000	0.59711	0.528000	0.53228	AAA		0.697	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	NM_001040260		8	27	0	0	0	1	0	8	27				
LRRC45	201255	broad.mit.edu	37	17	79982595	79982595	+	Silent	SNP	C	C	T	rs201106510		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:79982595C>T	ENST00000306688.3	+	3	651	c.309C>T	c.(307-309)gcC>gcT	p.A103A	STRA13_ENST00000583767.1_5'Flank|STRA13_ENST00000306704.6_5'Flank|STRA13_ENST00000392359.3_5'Flank|STRA13_ENST00000580435.1_5'Flank|STRA13_ENST00000584347.1_5'Flank|LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	103						centrosome (GO:0005813)				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCAGGGGCCGAGGCTCTGG	0.627																																						ENST00000306688.3																			0				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(307-309)gcC>gcT		leucine rich repeat containing 45		C		0,4404		0,0,2202	56.0	62.0	60.0		309	-6.7	0.3	17		60	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	LRRC45	NM_144999.2		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		103/671	79982595	1,12999	2202	4298	6500	SO:0001819	synonymous_variant	201255					centrosome		g.chr17:79982595C>T	BC014109	CCDS11797.1	17q25.3	2005-08-09				ENSG00000169683			28302	protein-coding gene	gene with protein product						12477932	Standard	NM_144999		Approved	MGC20806	uc002kde.3	Q96CN5		ENST00000306688.3:c.309C>T	17.37:g.79982595C>T						LRRC45_ENST00000583383.1_3'UTR	p.A103A	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)		3	651	+	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		103						Silent	SNP	ENST00000306688.3	37	c.309C>T	CCDS11797.1																																																																																				0.627	LRRC45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442058.1	NM_144999		20	71	0	0	0	1	0	20	71				
MAP4K4	9448	broad.mit.edu	37	2	102456449	102456449	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:102456449C>T	ENST00000347699.4	+	10	942	c.942C>T	c.(940-942)ggC>ggT	p.G314G	MAP4K4_ENST00000413150.2_Silent_p.G314G|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000425019.1_Silent_p.G314G|MAP4K4_ENST00000324219.4_Silent_p.G314G|MAP4K4_ENST00000350878.4_Silent_p.G294G|MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350198.4_Silent_p.G314G	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	314					intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGAAGAGAGGCGAGAAAGGTA	0.398																																						ENST00000413150.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(940-942)ggC>ggT		mitogen-activated protein kinase kinase kinase kinase 4							70.0	66.0	67.0					2																	102456449		1865	4097	5962	SO:0001819	synonymous_variant	9448				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr2:102456449C>T	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.942C>T	2.37:g.102456449C>T						MAP4K4_ENST00000456652.1_Intron|MAP4K4_ENST00000350878.4_Silent_p.G294G|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000324219.4_Silent_p.G314G|MAP4K4_ENST00000350198.4_Silent_p.G314G|MAP4K4_ENST00000347699.4_Silent_p.G314G|MAP4K4_ENST00000425019.1_Silent_p.G314G	p.G314G	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN			10	997	+			314					O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	c.942C>T	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.918940	0.17982	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.77	0.491	0.16867	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3961	0.38404	0.5693:0.366:0.0647:0.0	.	.	.	.	X	54	.	.	R	+	1	2	MAP4K4	101822881	0.999000	0.42202	1.000000	0.80357	0.935000	0.57460	0.857000	0.27831	0.444000	0.26612	-0.474000	0.04947	CGA		0.398	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834		18	64	0	0	0	1	0	18	64				
PCDHB4	56131	broad.mit.edu	37	5	140502218	140502218	+	Missense_Mutation	SNP	C	C	A	rs147134705		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:140502218C>A	ENST00000194152.1	+	1	638	c.638C>A	c.(637-639)gCg>gAg	p.A213E	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	213	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCTCGTGGCGCTGGATGGT	0.512																																						ENST00000194152.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67						c.(637-639)gCg>gAg									119.0	109.0	113.0					5																	140502218		2203	4300	6503	SO:0001583	missense	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140502218C>A	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.638C>A	5.37:g.140502218C>A	ENSP00000194152:p.Ala213Glu						p.A213E	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	638	+			213			Cadherin 2.		Q4V761	Missense_Mutation	SNP	ENST00000194152.1	37	c.638C>A	CCDS4246.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.903239	0.52333	.	.	ENSG00000081818	ENST00000194152	T	0.37411	1.2	4.32	4.32	0.51571	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.78898	0.4356	H	0.99838	4.83	0.48452	D	0.999656	D	0.89917	1.0	D	0.91635	0.999	D	0.89649	0.3868	9	0.87932	D	0	.	17.3531	0.87329	0.0:1.0:0.0:0.0	.	213	Q9Y5E5	PCDB4_HUMAN	E	213	ENSP00000194152:A213E	ENSP00000194152:A213E	A	+	2	0	PCDHB4	140482402	1.000000	0.71417	0.416000	0.26546	0.483000	0.33249	5.660000	0.68018	2.397000	0.81536	0.655000	0.94253	GCG		0.512	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		55	30	1	0	6.60958e-23	1	8.45411e-23	55	30				
PYGM	5837	broad.mit.edu	37	11	64522965	64522965	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:64522965C>T	ENST00000164139.3	-	6	1124	c.726G>A	c.(724-726)atG>atA	p.M242I	PYGM_ENST00000377432.3_Missense_Mutation_p.M154I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	242					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACCAGAGGCGCATGGTGTTGA	0.617																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(724-726)atG>atA		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						121.0	106.0	111.0					11																	64522965		2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64522965C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.726G>A	11.37:g.64522965C>T	ENSP00000164139:p.Met242Ile					PYGM_ENST00000377432.3_Missense_Mutation_p.M154I	p.M242I	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			6	1124	-			242					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.726G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	34	5.358158	0.95854	.	.	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.91996	-2.95;-2.95	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	L	0.43701	1.375	0.80722	D	1	P;P	0.43024	0.798;0.798	P;P	0.51701	0.677;0.677	D	0.93077	0.6488	10	0.66056	D	0.02	-45.5786	17.3963	0.87446	0.0:1.0:0.0:0.0	.	154;242	A6NDY6;P11217	.;PYGM_HUMAN	I	154;242;223	ENSP00000366650:M154I;ENSP00000164139:M242I	ENSP00000164139:M242I	M	-	3	0	PYGM	64279541	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.818000	0.86416	2.722000	0.93159	0.655000	0.94253	ATG		0.617	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		16	49	0	0	0	1	0	16	49				
MMP16	4325	broad.mit.edu	37	8	89198815	89198815	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:89198815C>A	ENST00000286614.6	-	3	575	c.294G>T	c.(292-294)aaG>aaT	p.K98N	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	98					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CGCATCGGGGCTTCTTCATCC	0.363																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(292-294)aaG>aaT		matrix metallopeptidase 16 (membrane-inserted)							132.0	120.0	124.0					8																	89198815		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198815C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.294G>T	8.37:g.89198815C>A	ENSP00000286614:p.Lys98Asn					MMP16_ENST00000544227.1_5'UTR	p.K98N	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			3	575	-			98					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.294G>T	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065403	0.55432	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.40476	1.03;2.36	5.72	0.938	0.19500	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.088405	0.85682	D	0.000000	T	0.57799	0.2078	M	0.91717	3.235	0.53688	D	0.999976	P;B	0.44521	0.837;0.402	P;B	0.49637	0.617;0.258	T	0.63488	-0.6626	10	0.66056	D	0.02	.	10.058	0.42257	0.0:0.522:0.0:0.478	.	98;98	P51512-2;P51512	.;MMP16_HUMAN	N	98;115	ENSP00000286614:K98N;ENSP00000429147:K115N	ENSP00000286614:K98N	K	-	3	2	MMP16	89267931	0.929000	0.31497	0.998000	0.56505	0.993000	0.82548	0.113000	0.15499	0.096000	0.17463	0.585000	0.79938	AAG		0.363	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		35	109	1	0	1.45844e-13	1	1.75651e-13	35	109				
GIT1	28964	broad.mit.edu	37	17	27910609	27910609	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:27910609C>A	ENST00000225394.3	-	2	326	c.78G>T	c.(76-78)agG>agT	p.R26S	GIT1_ENST00000581348.1_Missense_Mutation_p.R26S|GIT1_ENST00000579937.1_Missense_Mutation_p.R26S|GIT1_ENST00000394869.3_Missense_Mutation_p.R26S|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	26	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CCAGCACACCCCTGCTGATGG	0.667																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(76-78)agG>agT		G protein-coupled receptor kinase interacting ArfGAP 1							59.0	45.0	50.0					17																	27910609		2200	4299	6499	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27910609C>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.78G>T	17.37:g.27910609C>A	ENSP00000225394:p.Arg26Ser					GIT1_ENST00000394869.3_Missense_Mutation_p.R26S|GIT1_ENST00000581348.1_Missense_Mutation_p.R26S|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R26S	p.R26S	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	2	326	-			26			Arf-GAP.		B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.78G>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.836971	0.71373	.	.	ENSG00000108262	ENST00000225394;ENST00000394869;ENST00000335356	T;T	0.40756	1.02;1.02	4.85	2.85	0.33270	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.76170	2.325	0.49582	D	0.999807	D;D;D;D	0.67145	0.993;0.995;0.996;0.993	D;D;D;D	0.72338	0.967;0.962;0.977;0.959	T	0.56013	-0.8049	10	0.62326	D	0.03	.	5.0053	0.14284	0.1678:0.6506:0.0:0.1817	.	30;26;26;26	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	S	26	ENSP00000225394:R26S;ENSP00000378338:R26S	ENSP00000225394:R26S	R	-	3	2	GIT1	24934735	0.947000	0.32204	1.000000	0.80357	0.990000	0.78478	-0.007000	0.12810	0.745000	0.32763	0.655000	0.94253	AGG		0.667	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		6	14	1	0	0.00198382	1	0.00207171	6	14				
RPS6KC1	26750	broad.mit.edu	37	1	213405594	213405594	+	Silent	SNP	G	G	A	rs202015199		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:213405594G>A	ENST00000366960.3	+	10	1371	c.1221G>A	c.(1219-1221)gcG>gcA	p.A407A	RPS6KC1_ENST00000543470.1_Silent_p.A195A|RPS6KC1_ENST00000543354.1_Silent_p.A110A|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.A395A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	407	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAGCATGCGGAAGGTTGGT	0.438																																						ENST00000366960.3																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43						c.(1219-1221)gcG>gcA		ribosomal protein S6 kinase, 52kDa, polypeptide 1							292.0	251.0	265.0					1																	213405594		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213405594G>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1221G>A	1.37:g.213405594G>A						RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543354.1_Silent_p.A110A|RPS6KC1_ENST00000543470.1_Silent_p.A195A|RPS6KC1_ENST00000366959.3_Silent_p.A395A	p.A407A	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	10	1371	+			407			Protein kinase 1.		B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.1221G>A	CCDS1513.1																																																																																				0.438	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		4	210	0	0	0	1	0	4	210				
ANKRD50	57182	broad.mit.edu	37	4	125591287	125591287	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:125591287G>A	ENST00000504087.1	-	4	4182	c.3145C>T	c.(3145-3147)Ctc>Ttc	p.L1049F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L870F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1049										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCAATACAGAGTGCAGTTGCA	0.478																																						ENST00000504087.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						c.(3145-3147)Ctc>Ttc		ankyrin repeat domain 50							113.0	98.0	103.0					4																	125591287		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125591287G>A	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.3145C>T	4.37:g.125591287G>A	ENSP00000425658:p.Leu1049Phe					ANKRD50_ENST00000515641.1_Missense_Mutation_p.L870F	p.L1049F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN			4	4182	-			1049					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.3145C>T	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	18.51	3.639017	0.67130	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.78924	-1.22;-1.22	5.51	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91555	0.5260	10	0.87932	D	0	.	14.6263	0.68624	0.0695:0.0:0.9305:0.0	.	1049	Q9ULJ7	ANR50_HUMAN	F	1049;870	ENSP00000425658:L1049F;ENSP00000425355:L870F	ENSP00000425658:L1049F	L	-	1	0	ANKRD50	125810737	1.000000	0.71417	0.045000	0.18777	0.852000	0.48524	7.212000	0.77941	1.567000	0.49668	0.561000	0.74099	CTC		0.478	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337		21	43	0	0	0	1	0	21	43				
GGTLC1	92086	broad.mit.edu	37	20	23965899	23965899	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:23965899G>T	ENST00000335694.4	-	6	836	c.632C>A	c.(631-633)gCa>gAa	p.A211E	GGTLC1_ENST00000278765.4_Missense_Mutation_p.A211E|GGTLC1_ENST00000286890.4_Missense_Mutation_p.A211E	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	211					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGAGGCAGCTGCCCAGCCACC	0.592																																						ENST00000335694.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(631-633)gCa>gAa		gamma-glutamyltransferase light chain 1							48.0	50.0	49.0					20																	23965899		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23965899G>T	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.632C>A	20.37:g.23965899G>T	ENSP00000337587:p.Ala211Glu					GGTLC1_ENST00000286890.4_Missense_Mutation_p.A211E|GGTLC1_ENST00000278765.4_Missense_Mutation_p.A211E	p.A211E	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			6	836	-			211					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.632C>A	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	g	7.551	0.662690	0.14645	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05925	3.37;3.37;3.37	0.844	0.844	0.18943	.	0.291610	0.33364	N	0.004984	T	0.02688	0.0081	N	0.04686	-0.185	0.34490	D	0.704883	B	0.15141	0.012	B	0.20577	0.03	T	0.41288	-0.9517	10	0.28530	T	0.3	-12.1058	5.3481	0.16020	1.0E-4:0.0:0.9999:0.0	.	211	Q9BX51	GGTL1_HUMAN	E	211	ENSP00000286890:A211E;ENSP00000278765:A211E;ENSP00000337587:A211E	ENSP00000278765:A211E	A	-	2	0	GGTLC1	23913899	1.000000	0.71417	0.086000	0.20670	0.087000	0.18053	3.248000	0.51430	0.088000	0.17205	0.089000	0.15464	GCA		0.592	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		32	70	1	0	2.85442e-18	1	3.51477e-18	32	70				
PKHD1L1	93035	broad.mit.edu	37	8	110393597	110393597	+	Splice_Site	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:110393597A>G	ENST00000378402.5	+	3	267		c.e3-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTACTTTTCCAGGTTTTTCTC	0.323										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e3-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							52.0	49.0	50.0					8																	110393597		1814	4058	5872	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110393597A>G	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.164-1A>G	8.37:g.110393597A>G		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		3	267	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37		CCDS47911.1	.	.	.	.	.	.	.	.	.	.	A	19.91	3.915068	0.73098	.	.	ENSG00000205038	ENST00000378402	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7581	0.69583	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110462773	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.399000	0.73248	2.367000	0.80283	0.528000	0.53228	.		0.323	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	3	8	0	0	0	1	0	3	8				
RPP30	10556	broad.mit.edu	37	10	92656129	92656129	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:92656129G>A	ENST00000371703.3	+	10	948	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	RPP30_ENST00000413330.1_Missense_Mutation_p.R226Q|RPP30_ENST00000489806.1_3'UTR	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	226					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						ACCAACTGCCGAGCAGCGCTT	0.478																																						ENST00000413330.1																			0				central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						c.(676-678)cGa>cAa		ribonuclease P/MRP 30kDa subunit							97.0	88.0	91.0					10																	92656129		2203	4300	6503	SO:0001583	missense	10556				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:92656129G>A	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.677G>A	10.37:g.92656129G>A	ENSP00000360768:p.Arg226Gln					RPP30_ENST00000489806.1_3'UTR|RPP30_ENST00000371703.3_Missense_Mutation_p.R226Q	p.R226Q	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN			10	712	+			226					B2R799|E9PB02	Missense_Mutation	SNP	ENST00000371703.3	37	c.677G>A	CCDS7411.1	.	.	.	.	.	.	.	.	.	.	G	31	5.063655	0.93898	.	.	ENSG00000148688	ENST00000371703;ENST00000413330;ENST00000371705;ENST00000277882;ENST00000414836	T;T;T	0.49139	0.79;0.8;0.85	6.06	6.06	0.98353	Polymerase/histidinol phosphatase-like (1);	0.000000	0.85682	D	0.000000	T	0.57272	0.2042	L	0.55834	1.745	0.58432	D	0.999998	D;P	0.63046	0.992;0.937	P;B	0.51266	0.664;0.357	T	0.56372	-0.7990	10	0.56958	D	0.05	-24.5491	19.4112	0.94673	0.0:0.0:1.0:0.0	.	226;226	P78346;E9PB02	RPP30_HUMAN;.	Q	226;226;216;248;170	ENSP00000360768:R226Q;ENSP00000389182:R226Q;ENSP00000277882:R248Q	ENSP00000277882:R248Q	R	+	2	0	RPP30	92646109	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	7.683000	0.84093	2.880000	0.98712	0.650000	0.86243	CGA		0.478	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049347.1	NM_006413		22	39	0	0	0	1	0	22	39				
COL19A1	1310	broad.mit.edu	37	6	70610150	70610150	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:70610150C>A	ENST00000322773.4	+	4	288	c.186C>A	c.(184-186)agC>agA	p.S62R		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	62	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TAGGAGACAGCTTTTCTCTAA	0.294																																						ENST00000322773.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						c.(184-186)agC>agA		collagen, type XIX, alpha 1							70.0	71.0	70.0					6																	70610150		2203	4293	6496	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70610150C>A		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.186C>A	6.37:g.70610150C>A	ENSP00000316030:p.Ser62Arg						p.S62R	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN			4	288	+			62			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.186C>A	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	C	9.107	1.005527	0.19199	.	.	ENSG00000082293	ENST00000322773	T	0.47528	0.84	5.9	-2.91	0.05631	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.123352	0.53938	D	0.000050	T	0.08358	0.0208	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33574	-0.9863	10	0.07030	T	0.85	.	1.4549	0.02383	0.4306:0.249:0.1067:0.2137	.	62	Q14993	COJA1_HUMAN	R	62	ENSP00000316030:S62R	ENSP00000316030:S62R	S	+	3	2	COL19A1	70666871	0.947000	0.32204	0.944000	0.38274	0.853000	0.48598	-0.101000	0.10973	-0.518000	0.06452	-1.902000	0.00527	AGC		0.294	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			8	18	1	0	1.12685e-05	1	1.19955e-05	8	18				
IKBKB	3551	broad.mit.edu	37	8	42176917	42176917	+	Missense_Mutation	SNP	C	C	A	rs377475488		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:42176917C>A	ENST00000520810.1	+	14	1680	c.1494C>A	c.(1492-1494)agC>agA	p.S498R	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.S496R|IKBKB_ENST00000416505.2_Missense_Mutation_p.S439R|IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000379708.3_Missense_Mutation_p.S275R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	498					B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGTACAGCGAGCAAACCG	0.408											OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000520810.1																			0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(1492-1494)agC>agA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						123.0	114.0	117.0					8																	42176917		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42176917C>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.1494C>A	8.37:g.42176917C>A	ENSP00000430684:p.Ser498Arg		OREG0018747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	906	IKBKB_ENST00000522785.1_3'UTR|IKBKB_ENST00000416505.2_Missense_Mutation_p.S439R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Missense_Mutation_p.S496R|IKBKB_ENST00000379708.3_Missense_Mutation_p.S275R	p.S498R	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		14	1680	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	498					B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.1494C>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	c	12.56	1.975620	0.34848	.	.	ENSG00000104365	ENST00000520810;ENST00000416505;ENST00000520835;ENST00000379708	T;T;T;T	0.75704	-0.87;-0.96;-0.78;2.83	5.95	-7.98	0.01135	.	0.365028	0.36555	N	0.002523	T	0.50188	0.1601	L	0.37850	1.14	0.24607	N	0.993741	B;B;B;B;B	0.14805	0.0;0.011;0.002;0.007;0.004	B;B;B;B;B	0.24269	0.001;0.052;0.002;0.015;0.014	T	0.30446	-0.9978	10	0.37606	T	0.19	.	0.9822	0.01438	0.2027:0.2769:0.1585:0.3619	.	439;496;275;449;498	B4E0U4;O14920-2;B3KRB7;Q59GL9;O14920	.;.;.;.;IKKB_HUMAN	R	498;439;496;275	ENSP00000430684:S498R;ENSP00000404920:S439R;ENSP00000430868:S496R;ENSP00000369030:S275R	ENSP00000369030:S275R	S	+	3	2	IKBKB	42296074	0.002000	0.14202	0.207000	0.23584	0.833000	0.47200	-0.991000	0.03728	-1.400000	0.02061	-1.309000	0.01313	AGC		0.408	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1			4	127	1	0	1	1	1	4	127				
ADSL	158	broad.mit.edu	37	22	40745955	40745955	+	Silent	SNP	C	C	T	rs148303726		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:40745955C>T	ENST00000216194.7	+	2	329	c.273C>T	c.(271-273)caC>caT	p.H91H	ADSL_ENST00000342312.6_Silent_p.H91H|ADSL_ENST00000454266.2_Silent_p.H91H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	91					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						TGATGGCTCACGTGCACACAT	0.468																																					Colon(4;65 130 1097 1516)	ENST00000216194.7																			0				breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						c.(271-273)caC>caT		adenylosuccinate lyase		C	,	0,4406		0,0,2203	169.0	127.0	141.0		273,273	-11.2	0.2	22	dbSNP_134	141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ADSL	NM_000026.2,NM_001123378.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	91/485,91/426	40745955	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	158				AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	g.chr22:40745955C>T	X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.273C>T	22.37:g.40745955C>T						ADSL_ENST00000454266.2_Silent_p.H91H|ADSL_ENST00000342312.6_Silent_p.H91H	p.H91H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN			2	329	+			91					B0QY76|O75495|Q5TI34	Silent	SNP	ENST00000216194.7	37	c.273C>T	CCDS14001.1																																																																																				0.468	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321386.1	NM_000026		4	81	0	0	0	1	0	4	81				
JUN	3725	broad.mit.edu	37	1	59248394	59248394	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:59248394C>A	ENST00000371222.2	-	1	1391	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	117					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	TCGGCCAGGGCGCGCACGAAG	0.692			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(349-351)Gcc>Tcc		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						42.0	45.0	44.0					1																	59248394		2196	4287	6483	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248394C>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.349G>T	1.37:g.59248394C>A	ENSP00000360266:p.Ala117Ser						p.A117S	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1391	-	all_cancers(7;8.55e-07)		117					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.349G>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.899299	0.91962	.	.	ENSG00000177606	ENST00000371222	T	0.56776	0.44	4.16	4.16	0.48862	Jun-like transcription factor (1);	0.000000	0.64402	U	0.000001	T	0.75162	0.3812	M	0.84773	2.715	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81313	-0.0989	10	0.87932	D	0	-11.711	16.6844	0.85301	0.0:1.0:0.0:0.0	.	117	P05412	JUN_HUMAN	S	117	ENSP00000360266:A117S	ENSP00000360266:A117S	A	-	1	0	JUN	59020982	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.278000	0.78587	2.139000	0.66308	0.561000	0.74099	GCC		0.692	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		45	100	1	0	1.00776e-21	1	1.25969e-21	45	100				
RNF213	57674	broad.mit.edu	37	17	78319549	78319549	+	Missense_Mutation	SNP	T	T	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319549T>G	ENST00000582970.1	+	29	7557	c.7414T>G	c.(7414-7416)Ttc>Gtc	p.F2472V	RNF213_ENST00000336301.6_Missense_Mutation_p.F545V|RNF213_ENST00000508628.2_Missense_Mutation_p.F2521V	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2472					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAATGTGGCCTTCGCCAATAA	0.468																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7414-7416)Ttc>Gtc		ring finger protein 213							114.0	101.0	106.0					17																	78319549		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78319549T>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7414T>G	17.37:g.78319549T>G	ENSP00000464087:p.Phe2472Val					RNF213_ENST00000508628.2_Missense_Mutation_p.F2521V|RNF213_ENST00000336301.6_Missense_Mutation_p.F545V	p.F2472V	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7557	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.7414T>G	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	T	3.702	-0.061323	0.07317	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.49720	0.77	5.42	-10.8	0.00216	ATPase, AAA+ type, core (1);	1.660630	0.03194	N	0.173684	T	0.26810	0.0656	L	0.38531	1.155	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.07271	-1.0781	10	0.13853	T	0.58	.	3.8181	0.08824	0.2792:0.1532:0.4255:0.1421	.	545	Q63HN8	RN213_HUMAN	V	2472;2521;545	ENSP00000338218:F545V	ENSP00000338218:F545V	F	+	1	0	RNF213	75934144	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.952000	0.03881	-1.991000	0.00976	-0.313000	0.08912	TTC		0.468	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		44	103	0	0	0	1	0	44	103				
GEMIN5	25929	broad.mit.edu	37	5	154278774	154278774	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:154278774G>A	ENST00000285873.7	-	22	3186	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1037					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGCATAGTGGCCATCTCTTT	0.547																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3109-3111)ggC>ggT		gem (nuclear organelle) associated protein 5							127.0	126.0	126.0					5																	154278774		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154278774G>A	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3111C>T	5.37:g.154278774G>A							p.G1037G	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		22	3186	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1037					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.3111C>T	CCDS4330.1																																																																																				0.547	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			94	67	0	0	0	1	0	94	67				
OGDH	4967	broad.mit.edu	37	7	44747537	44747537	+	Missense_Mutation	SNP	C	C	T	rs368222534		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:44747537C>T	ENST00000222673.5	+	23	3053	c.3011C>T	c.(3010-3012)aCg>aTg	p.T1004M	OGDH_ENST00000449767.1_Missense_Mutation_p.T1000M|OGDH_ENST00000444676.1_Missense_Mutation_p.T1019M|OGDH_ENST00000439616.2_Missense_Mutation_p.T854M|OGDH_ENST00000543843.1_Missense_Mutation_p.T955M|OGDH_ENST00000447398.1_Missense_Mutation_p.T1015M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	1004					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	ACCCACCTGACGGAGCTGCAG	0.642																																						ENST00000222673.5																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36						c.(3010-3012)aCg>aTg		oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	NADH(DB00157)	C	MET/THR,MET/THR	0,4406		0,0,2203	76.0	68.0	71.0		2999,3011	5.0	1.0	7		71	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	OGDH	NM_001165036.1,NM_002541.3	81,81	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign	1000/1020,1004/1024	44747537	2,13004	2203	4300	6503	SO:0001583	missense	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44747537C>T	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.3011C>T	7.37:g.44747537C>T	ENSP00000222673:p.Thr1004Met					OGDH_ENST00000543843.1_Missense_Mutation_p.T955M|OGDH_ENST00000444676.1_Missense_Mutation_p.T1019M|OGDH_ENST00000449767.1_Missense_Mutation_p.T1000M|OGDH_ENST00000447398.1_Missense_Mutation_p.T1015M|OGDH_ENST00000439616.2_Missense_Mutation_p.T854M	p.T1004M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN			23	3053	+			1004					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	c.3011C>T	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.443668	0.43429	0.0	2.33E-4	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.0	5.0	0.66597	.	0.100013	0.64402	D	0.000002	T	0.12050	0.0293	L	0.28274	0.84	0.40214	D	0.977661	B;B;B;B;B	0.26318	0.084;0.146;0.039;0.039;0.039	B;B;B;B;B	0.15052	0.007;0.011;0.012;0.012;0.007	T	0.07693	-1.0759	10	0.52906	T	0.07	-22.6299	18.2463	0.89986	0.0:1.0:0.0:0.0	.	799;854;1000;1015;1004	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	M	854;1000;1015;1019;1004;955	ENSP00000398576:T854M;ENSP00000392878:T1000M;ENSP00000388183:T1015M;ENSP00000414662:T1019M;ENSP00000222673:T1004M;ENSP00000443821:T955M	ENSP00000222673:T1004M	T	+	2	0	OGDH	44714062	0.903000	0.30736	0.998000	0.56505	0.834000	0.47266	1.662000	0.37418	2.474000	0.83562	0.313000	0.20887	ACG		0.642	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			4	117	0	0	0	1	0	4	117				
KMT2D	8085	broad.mit.edu	37	12	49443617	49443617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:49443617G>A	ENST00000301067.7	-	11	3753	c.3754C>T	c.(3754-3756)Cga>Tga	p.R1252*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1252					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCCTCATCTCGGGCTGGACTA	0.597																																						ENST00000301067.7																			0											c.(3754-3756)Cga>Tga		lysine (K)-specific methyltransferase 2D							84.0	88.0	87.0					12																	49443617		1940	4143	6083	SO:0001587	stop_gained	8085							g.chr12:49443617G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3754C>T	12.37:g.49443617G>A	ENSP00000301067:p.Arg1252*						p.R1252*	NM_003482.3	NP_003473.3					11	3753	-								O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.3754C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	42	9.631121	0.99224	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.81	5.81	0.92471	.	0.000000	0.31519	N	0.007517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.3313	0.55041	0.0:0.0:0.7302:0.2698	.	.	.	.	X	1252	.	ENSP00000301067:R1252X	R	-	1	2	MLL2	47729884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.151000	0.50670	2.736000	0.93811	0.655000	0.94253	CGA		0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			55	148	0	0	0	1	0	55	148				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																197331							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	176	0	0	0	1	0	4	176				
ZCCHC24	219654	broad.mit.edu	37	10	81154121	81154121	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:81154121A>G	ENST00000372336.3	-	3	709	c.523T>C	c.(523-525)Tgc>Cgc	p.C175R	RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.V115A	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	175							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						TTTCTCTTGCACTTGGGACAC	0.582																																						ENST00000372336.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						c.(523-525)Tgc>Cgc		zinc finger, CCHC domain containing 24							173.0	135.0	147.0					10																	81154121		2203	4300	6503	SO:0001583	missense	219654						nucleic acid binding|zinc ion binding	g.chr10:81154121A>G	AK075279	CCDS7359.1	10q22.3	2014-02-20	2008-06-23	2008-06-23	ENSG00000165424	ENSG00000165424		"""Zinc fingers, CCHC domain containing"""	26911	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 8"""		"""chromosome 10 open reading frame 56"""	C10orf56		12477932	Standard	NM_153367		Approved	FLJ90798, Z3CXXC8	uc010qlr.2	Q8N2G6	OTTHUMG00000018561	ENST00000372336.3:c.523T>C	10.37:g.81154121A>G	ENSP00000361411:p.Cys175Arg					RP11-342M3.5_ENST00000438554.2_RNA|ZCCHC24_ENST00000372333.3_Missense_Mutation_p.V115A	p.C175R	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN			3	709	-			175					Q5U5T9|Q8TAG0	Missense_Mutation	SNP	ENST00000372336.3	37	c.523T>C	CCDS7359.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.31|16.31	3.086706|3.086706	0.55861|0.55861	.|.	.|.	ENSG00000165424|ENSG00000165424	ENST00000372336|ENST00000372333	T|.	0.73363|.	-0.74|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.69860|0.69860	0.3158|0.3158	M|M	0.80183|0.80183	2.485|2.485	0.36127|0.36127	D|D	0.845895|0.845895	D|D	0.69078|0.55605	0.997|0.972	D|P	0.83275|0.51550	0.996|0.673	T|T	0.81123|0.81123	-0.1076|-0.1076	10|8	0.87932|0.87932	D|D	0|0	-5.4029|-5.4029	15.2624|15.2624	0.73634|0.73634	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	175|115	Q8N2G6|Q5W133	ZCH24_HUMAN|.	R|A	175|115	ENSP00000361411:C175R|.	ENSP00000361411:C175R|ENSP00000361408:V115A	C|V	-|-	1|2	0|0	ZCCHC24|ZCCHC24	80824127|80824127	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.946000|8.946000	0.92992|0.92992	2.006000|2.006000	0.58801|0.58801	0.421000|0.421000	0.28195|0.28195	TGC|GTG		0.582	ZCCHC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048947.1	NM_153367		41	118	0	0	0	1	0	41	118				
USP21	27005	broad.mit.edu	37	1	161133693	161133693	+	Silent	SNP	T	T	C	rs144266041		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:161133693T>C	ENST00000289865.8	+	8	1361	c.1140T>C	c.(1138-1140)agT>agC	p.S380S	PPOX_ENST00000432542.2_5'Flank|PPOX_ENST00000544598.1_5'Flank|USP21_ENST00000493054.1_3'UTR|PPOX_ENST00000367999.4_5'Flank|PPOX_ENST00000352210.5_5'Flank|USP21_ENST00000368001.1_Silent_p.S380S|USP21_ENST00000368002.3_Silent_p.S380S|PPOX_ENST00000535223.1_5'Flank	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	380	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTTGAAAAGTTGTCTCAAGT	0.502																																						ENST00000368002.3																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29						c.(1138-1140)agT>agC		ubiquitin specific peptidase 21		T	,	1,4405	2.1+/-5.4	0,1,2202	174.0	148.0	157.0		1140,1140	1.3	1.0	1	dbSNP_134	157	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	USP21	NM_001014443.2,NM_012475.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	380/566,380/566	161133693	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161133693T>C	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.1140T>C	1.37:g.161133693T>C						USP21_ENST00000368001.1_Silent_p.S380S|USP21_ENST00000289865.8_Silent_p.S380S|USP21_ENST00000487163.1_3'UTR	p.S380S	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		9	1517	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		380					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Silent	SNP	ENST00000289865.8	37	c.1140T>C	CCDS30920.1																																																																																				0.502	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			34	99	0	0	0	1	0	34	99				
IGHV3-49	28423	broad.mit.edu	37	14	107012995	107012995	+	RNA	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:107012995G>A	ENST00000390625.2	-	0	379									immunoglobulin heavy variable 3-49																		TTTGCAGATAGGCGATGCTTT	0.473																																						ENST00000390625.2																			0																				147.0	143.0	144.0					14																	107012995		1968	4149	6117			28423							g.chr14:107012995G>A	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107012995G>A														0	379	-									RNA	SNP	ENST00000390625.2	37																																																																																						0.473	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		76	143	0	0	0	1	0	76	143				
CEP164	22897	broad.mit.edu	37	11	117267963	117267963	+	Silent	SNP	G	G	T	rs149964584		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:117267963G>T	ENST00000278935.3	+	27	3582	c.3435G>T	c.(3433-3435)gcG>gcT	p.A1145A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1145					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGGCCAGTGCGCAGGAGGTGG	0.617																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3433-3435)gcG>gcT		centrosomal protein 164kDa							40.0	38.0	39.0					11																	117267963		2201	4296	6497	SO:0001819	synonymous_variant	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117267963G>T	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3435G>T	11.37:g.117267963G>T						CEP164_ENST00000533706.1_3'UTR	p.A1145A	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	27	3582	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1145					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	ENST00000278935.3	37	c.3435G>T	CCDS31683.1																																																																																				0.617	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		7	56	1	0	0.0381472	1	0.0388537	7	56				
IGSF11	152404	broad.mit.edu	37	3	118647404	118647404	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:118647404G>T	ENST00000393775.2	-	3	681	c.376C>A	c.(376-378)Cca>Aca	p.P126T	IGSF11_ENST00000491903.1_Missense_Mutation_p.P126T|IGSF11_ENST00000354673.2_Missense_Mutation_p.P125T|IGSF11_ENST00000489689.1_Missense_Mutation_p.P126T|IGSF11_ENST00000425327.2_Missense_Mutation_p.P125T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P125T|IGSF11_ENST00000459718.1_5'UTR	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	126	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTATGTCTGGAAGGTTGTTG	0.498																																						ENST00000354673.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(373-375)Cca>Aca		immunoglobulin superfamily, member 11							142.0	123.0	129.0					3																	118647404		2203	4300	6503	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118647404G>T	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.376C>A	3.37:g.118647404G>T	ENSP00000377370:p.Pro126Thr					IGSF11_ENST00000489689.1_Missense_Mutation_p.P126T|IGSF11_ENST00000491903.1_Missense_Mutation_p.P126T|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000393775.2_Missense_Mutation_p.P126T|IGSF11_ENST00000441144.2_Missense_Mutation_p.P125T|IGSF11_ENST00000425327.2_Missense_Mutation_p.P125T	p.P125T	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN			5	753	-			126			Ig-like V-type.		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.373C>A	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419660	0.83559	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903	T;T;D;T;D;D	0.85556	-1.17;-1.41;-2.0;-1.17;-1.93;-1.73	4.31	4.31	0.51392	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.232389	0.43747	D	0.000522	D	0.91216	0.7232	M	0.76727	2.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.81914	0.995;0.975;0.992;0.995;0.99	D	0.89811	0.3982	10	0.30078	T	0.28	.	16.3038	0.82841	0.0:0.0:1.0:0.0	.	126;125;125;126;126	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	T	125;126;126;125;125;126	ENSP00000406092:P125T;ENSP00000377370:P126T;ENSP00000420486:P126T;ENSP00000346700:P125T;ENSP00000401240:P125T;ENSP00000417413:P126T	ENSP00000346700:P125T	P	-	1	0	IGSF11	120130094	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	9.208000	0.95075	2.402000	0.81655	0.563000	0.77884	CCA		0.498	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			27	27	1	0	3.73148e-12	1	4.36662e-12	27	27				
FOXG1	2290	broad.mit.edu	37	14	29237068	29237068	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:29237068C>T	ENST00000313071.4	+	1	782	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.R195W	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	195					aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GATGGCCATCCGGCAGAGCCC	0.602																																						ENST00000382535.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(583-585)Cgg>Tgg		forkhead box G1							41.0	42.0	42.0					14																	29237068		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237068C>T		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.583C>T	14.37:g.29237068C>T	ENSP00000339004:p.Arg195Trp					FOXG1_ENST00000313071.4_Missense_Mutation_p.R195W	p.R195W			P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	952	+			195					A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.583C>T	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.037140	0.54896	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.95821	-3.82;-3.82	3.31	2.34	0.29019	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.155484	0.43579	U	0.000549	D	0.95140	0.8425	L	0.31420	0.93	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	D	0.93857	0.7150	10	0.87932	D	0	.	10.6143	0.45441	0.2023:0.7977:0.0:0.0	.	195	P55316	FOXG1_HUMAN	W	195	ENSP00000371975:R195W;ENSP00000339004:R195W	ENSP00000339004:R195W	R	+	1	2	FOXG1	28306819	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.365000	0.44196	0.291000	0.22468	0.298000	0.19748	CGG		0.602	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3			20	39	0	0	0	1	0	20	39				
CDH6	1004	broad.mit.edu	37	5	31317589	31317589	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:31317589A>T	ENST00000265071.2	+	10	1885	c.1620A>T	c.(1618-1620)caA>caT	p.Q540H	CDH6_ENST00000514738.1_Missense_Mutation_p.Q485H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	540	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACCATTCAAGACAACAAAG	0.393																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(1618-1620)caA>caT		cadherin 6, type 2, K-cadherin (fetal kidney)							94.0	93.0	93.0					5																	31317589		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31317589A>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1620A>T	5.37:g.31317589A>T	ENSP00000265071:p.Gln540His					CDH6_ENST00000514738.1_Missense_Mutation_p.Q485H	p.Q540H	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			10	1885	+			540			Cadherin 5.		A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.1620A>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	A	12.67	2.008548	0.35415	.	.	ENSG00000113361	ENST00000514738;ENST00000265071	T;T	0.52295	0.67;0.67	4.75	-0.939	0.10408	Cadherin (4);Cadherin-like (1);	0.721155	0.14014	N	0.347222	T	0.35158	0.0922	N	0.20766	0.605	0.38134	D	0.938241	P;B	0.45715	0.865;0.001	P;B	0.53450	0.726;0.003	T	0.43782	-0.9370	10	0.39692	T	0.17	.	0.3271	0.00312	0.3925:0.1411:0.191:0.2754	.	540;540	P55285;P55285-2	CADH6_HUMAN;.	H	485;540	ENSP00000424843:Q485H;ENSP00000265071:Q540H	ENSP00000265071:Q540H	Q	+	3	2	CDH6	31353346	0.004000	0.15560	0.998000	0.56505	0.992000	0.81027	-0.098000	0.11024	0.049000	0.15920	0.528000	0.53228	CAA		0.393	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		27	55	0	0	0	1	0	27	55				
CNGA2	1260	broad.mit.edu	37	X	150912536	150912536	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:150912536G>A	ENST00000329903.4	+	6	1594	c.1561G>A	c.(1561-1563)Gag>Aag	p.E521K		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	521					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTTTGGCGAGATCAGTAT	0.507																																						ENST00000329903.4																			0				breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49						c.(1561-1563)Gag>Aag		cyclic nucleotide gated channel alpha 2							178.0	147.0	158.0					X																	150912536		2203	4300	6503	SO:0001583	missense	1260				response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chrX:150912536G>A	S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1561G>A	X.37:g.150912536G>A	ENSP00000328478:p.Glu521Lys						p.E521K	NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN			6	1594	+	Acute lymphoblastic leukemia(192;6.56e-05)		521					A0AVD0	Missense_Mutation	SNP	ENST00000329903.4	37	c.1561G>A	CCDS14701.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091642	0.76756	.	.	ENSG00000183862	ENST00000329903	D	0.98264	-4.83	5.33	5.33	0.75918	Cyclic nucleotide-binding, conserved site (1);Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.99777	4.77	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.97583	1.0112	10	0.87932	D	0	.	15.3498	0.74373	0.0:0.0:1.0:0.0	.	521	Q16280	CNGA2_HUMAN	K	521	ENSP00000328478:E521K	ENSP00000328478:E521K	E	+	1	0	CNGA2	150663192	1.000000	0.71417	0.986000	0.45419	0.794000	0.44872	9.476000	0.97823	2.216000	0.71823	0.529000	0.55759	GAG		0.507	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060888.1	NM_005140		93	46	0	0	0	1	0	93	46				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	50	0	0	0	1	0	4	50				
KHDRBS2	202559	broad.mit.edu	37	6	62390885	62390885	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:62390885G>T	ENST00000281156.4	-	9	1311	c.1033C>A	c.(1033-1035)Ccc>Acc	p.P345T	RP1-240B8.3_ENST00000511849.2_RNA	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CTACCATAGGGGTGTTCCCTG	0.488																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(1033-1035)Ccc>Acc		KH domain containing, RNA binding, signal transduction associated 2							204.0	141.0	162.0					6																	62390885		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62390885G>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.1033C>A	6.37:g.62390885G>T	ENSP00000281156:p.Pro345Thr					RP1-240B8.3_ENST00000511849.2_RNA	p.P345T	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	9	1311	-			345					A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.1033C>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.679086	0.47886	.	.	ENSG00000112232	ENST00000281156	T	0.72394	-0.65	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.79191	0.4404	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81061	-0.1103	10	0.87932	D	0	.	18.9222	0.92529	0.0:0.0:1.0:0.0	.	345	Q5VWX1	KHDR2_HUMAN	T	345	ENSP00000281156:P345T	ENSP00000281156:P345T	P	-	1	0	KHDRBS2	62448844	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.057000	0.89457	2.541000	0.85698	0.650000	0.86243	CCC		0.488	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		14	24	1	0	6.72482e-11	1	7.65239e-11	14	24				
ZNF716	441234	broad.mit.edu	37	7	57528811	57528811	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:57528811G>A	ENST00000420713.1	+	4	756	c.644G>A	c.(643-645)tGt>tAt	p.C215Y		NM_001159279.1	NP_001152751.1	A6NP11	ZN716_HUMAN	zinc finger protein 716	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(1)|lung(20)|ovary(2)	24						TCTTACAAATGTGAAGAATGT	0.358																																						ENST00000420713.1																			0				breast(1)|kidney(1)|lung(20)|ovary(2)	24						c.(643-645)tGt>tAt		zinc finger protein 716							50.0	44.0	46.0					7																	57528811		692	1591	2283	SO:0001583	missense	441234							g.chr7:57528811G>A	AK131575	CCDS55112.1	7p11.1	2013-01-08			ENSG00000182111	ENSG00000182111		"""Zinc fingers, C2H2-type"", ""-"""	32458	protein-coding gene	gene with protein product							Standard	NM_001159279		Approved	FLJ46189	uc011kdi.1	A6NP11	OTTHUMG00000156689	ENST00000420713.1:c.644G>A	7.37:g.57528811G>A	ENSP00000394248:p.Cys215Tyr						p.C215Y	NM_001159279.1	NP_001152751.1					4	756	+									Missense_Mutation	SNP	ENST00000420713.1	37	c.644G>A	CCDS55112.1	.	.	.	.	.	.	.	.	.	.	G	7.425	0.637621	0.14386	.	.	ENSG00000182111	ENST00000420713;ENST00000418732	D	0.85088	-1.94	0.195	0.195	0.15151	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.86381	0.5919	H	0.94306	3.52	0.24187	N	0.995565	B	0.33477	0.413	B	0.29716	0.106	T	0.79463	-0.1793	9	0.66056	D	0.02	.	6.2336	0.20750	3.0E-4:0.0:0.9997:0.0	.	203	A6NP11	ZN716_HUMAN	Y	215;203	ENSP00000394248:C215Y	ENSP00000387687:C203Y	C	+	2	0	ZNF716	57532753	1.000000	0.71417	0.014000	0.15608	0.014000	0.08584	6.669000	0.74462	0.300000	0.22699	0.306000	0.20318	TGT		0.358	ZNF716-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345309.1	NM_001159279		8	17	0	0	0	1	0	8	17				
CHD4	1108	broad.mit.edu	37	12	6707160	6707160	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:6707160G>A	ENST00000357008.2	-	12	1955	c.1792C>T	c.(1792-1794)Cga>Tga	p.R598*	CHD4_ENST00000544040.1_Nonsense_Mutation_p.R591*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R595*|CHD4_ENST00000309577.6_Nonsense_Mutation_p.R598*	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	598					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TTGTTCTTTCGCTTTCGGCTT	0.483																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(1792-1794)Cga>Tga		chromodomain helicase DNA binding protein 4							210.0	203.0	206.0					12																	6707160		2203	4300	6503	SO:0001587	stop_gained	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6707160G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.1792C>T	12.37:g.6707160G>A	ENSP00000349508:p.Arg598*					CHD4_ENST00000357008.2_Nonsense_Mutation_p.R598*|CHD4_ENST00000544484.1_Nonsense_Mutation_p.R595*|CHD4_ENST00000544040.1_Nonsense_Mutation_p.R591*	p.R598*			Q14839	CHD4_HUMAN			12	1955	-			598					Q8IXZ5	Nonsense_Mutation	SNP	ENST00000357008.2	37	c.1792C>T	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985812	0.93044	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	.	.	.	3.83	1.93	0.25924	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.2296	3.2625	0.06854	0.0905:0.1375:0.4571:0.3149	.	.	.	.	X	595;591;598;598;572	.	ENSP00000312419:R598X	R	-	1	2	CHD4	6577421	1.000000	0.71417	0.025000	0.17156	0.000000	0.00434	2.632000	0.46511	0.271000	0.22005	-0.373000	0.07131	CGA		0.483	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		76	200	0	0	0	1	0	76	200				
EGF	1950	broad.mit.edu	37	4	110914521	110914521	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:110914521C>T	ENST00000265171.5	+	19	3298	c.2853C>T	c.(2851-2853)tgC>tgT	p.C951C	RNU6-35P_ENST00000384530.1_RNA|EGF_ENST00000503392.1_Intron|EGF_ENST00000509793.1_Silent_p.C909C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	951	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GACTGATTTGCCCTGGTAGGT	0.502																																						ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(2851-2853)tgC>tgT		epidermal growth factor	Sulindac(DB00605)						190.0	167.0	174.0					4																	110914521		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110914521C>T	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2853C>T	4.37:g.110914521C>T						EGF_ENST00000503392.1_Intron|EGF_ENST00000509793.1_Silent_p.C909C	p.C951C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	19	3298	+		Hepatocellular(203;0.0893)	951			EGF-like 8; calcium-binding (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2853C>T	CCDS3689.1																																																																																				0.502	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			4	128	0	0	0	1	0	4	128				
SLC6A2	6530	broad.mit.edu	37	16	55706002	55706002	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:55706002G>A	ENST00000379906.2	+	3	814	c.559G>A	c.(559-561)Gac>Aac	p.D187N	SLC6A2_ENST00000567238.1_Missense_Mutation_p.D82N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D187N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000414754.3_Missense_Mutation_p.D187N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	187					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CAACTGTACCGACCCCAAGCT	0.567																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(559-561)Gac>Aac		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						153.0	116.0	128.0					16																	55706002		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55706002G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.559G>A	16.37:g.55706002G>A	ENSP00000369237:p.Asp187Asn					SLC6A2_ENST00000414754.3_Missense_Mutation_p.D187N|SLC6A2_ENST00000566163.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D187N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D187N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D82N	p.D187N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	3	814	+			187					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.559G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.253586	0.59212	.	.	ENSG00000103546	ENST00000414754;ENST00000379906;ENST00000219833	T;T;T	0.75050	-0.9;-0.9;-0.9	5.8	4.84	0.62591	.	0.237063	0.48767	D	0.000173	T	0.63070	0.2480	L	0.27975	0.815	0.58432	D	0.999997	B;B;B	0.33345	0.409;0.409;0.409	B;B;B	0.37989	0.178;0.262;0.178	T	0.57665	-0.7772	10	0.13108	T	0.6	.	14.2937	0.66298	0.0707:0.0:0.9293:0.0	.	187;82;187	Q96KH8;B4DX48;P23975	.;.;SC6A2_HUMAN	N	187	ENSP00000394956:D187N;ENSP00000369237:D187N;ENSP00000219833:D187N	ENSP00000219833:D187N	D	+	1	0	SLC6A2	54263503	1.000000	0.71417	0.968000	0.41197	0.996000	0.88848	4.588000	0.60999	2.741000	0.93983	0.650000	0.86243	GAC		0.567	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			19	57	0	0	0	1	0	19	57				
MORC1	27136	broad.mit.edu	37	3	108677856	108677856	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:108677856G>T	ENST00000483760.1	-	27	2891	c.2848C>A	c.(2848-2850)Cat>Aat	p.H950N	MORC1_ENST00000232603.5_Missense_Mutation_p.H971N					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						gggagtctatgtcttgcatct	0.308																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2911-2913)Cat>Aat		MORC family CW-type zinc finger 1							39.0	40.0	40.0					3																	108677856		2202	4299	6501	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108677856G>T	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2848C>A	3.37:g.108677856G>T	ENSP00000417282:p.His950Asn					MORC1_ENST00000483760.1_Missense_Mutation_p.H950N	p.H971N	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			28	2993	-			971						Missense_Mutation	SNP	ENST00000483760.1	37	c.2911C>A		.	.	.	.	.	.	.	.	.	.	G	9.528	1.110044	0.20714	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05925	3.38;3.37	5.1	2.17	0.27698	.	2.166720	0.02168	N	0.059453	T	0.05640	0.0148	N	0.19112	0.55	0.09310	N	1	B;B	0.26400	0.148;0.148	B;B	0.24155	0.051;0.051	T	0.32745	-0.9895	10	0.56958	D	0.05	-0.6555	4.9197	0.13864	0.1813:0.0:0.652:0.1667	.	950;971	E7ERX1;Q86VD1	.;MORC1_HUMAN	N	971;950	ENSP00000232603:H971N;ENSP00000417282:H950N	ENSP00000232603:H971N	H	-	1	0	MORC1	110160546	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.211000	0.17474	0.730000	0.32425	0.650000	0.86243	CAT		0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			9	10	1	0	1.12685e-05	1	1.19955e-05	9	10				
BCAT2	587	broad.mit.edu	37	19	49299953	49299953	+	Missense_Mutation	SNP	C	C	T	rs370861768		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:49299953C>T	ENST00000316273.6	-	9	959	c.947G>A	c.(946-948)cGc>cAc	p.R316H	BCAT2_ENST00000598162.1_Missense_Mutation_p.R316H|BCAT2_ENST00000545387.2_Missense_Mutation_p.R224H|BCAT2_ENST00000402551.1_Missense_Mutation_p.R276H|BCAT2_ENST00000597011.1_Missense_Mutation_p.R276H|BCAT2_ENST00000599246.1_Missense_Mutation_p.R224H	NM_001190.3	NP_001181.2	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	316					branched-chain amino acid biosynthetic process (GO:0009082)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|isoleucine catabolic process (GO:0006550)|leucine metabolic process (GO:0006551)|regulation of hormone levels (GO:0010817)|small molecule metabolic process (GO:0044281)|valine metabolic process (GO:0006573)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	branched-chain-amino-acid transaminase activity (GO:0004084)|L-isoleucine transaminase activity (GO:0052656)|L-leucine transaminase activity (GO:0052654)|L-valine transaminase activity (GO:0052655)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Isoleucine(DB00167)|L-Leucine(DB00149)	GGTGATCGTGCGCTCCACCAC	0.662																																						ENST00000402551.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12						c.(826-828)cGc>cAc		branched chain amino-acid transaminase 2, mitochondrial	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	C	HIS/ARG,HIS/ARG	2,4404	2.1+/-5.4	0,2,2201	53.0	52.0	52.0		671,947	3.6	0.5	19		52	0,8600		0,0,4300	no	missense,missense	BCAT2	NM_001164773.1,NM_001190.3	29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	224/301,316/393	49299953	2,13004	2203	4300	6503	SO:0001583	missense	587					mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity	g.chr19:49299953C>T	U68418	CCDS12735.1, CCDS54290.1, CCDS74416.1	19q13.33	2013-09-20	2010-05-07		ENSG00000105552	ENSG00000105552	2.6.1.42		977	protein-coding gene	gene with protein product		113530	"""branched chain aminotransferase 2, mitochondrial"""	BCT2		9165094	Standard	NM_001190		Approved	BCAM	uc002pkr.3	O15382	OTTHUMG00000183327	ENST00000316273.6:c.947G>A	19.37:g.49299953C>T	ENSP00000322991:p.Arg316His					BCAT2_ENST00000598162.1_Missense_Mutation_p.R316H|BCAT2_ENST00000316273.6_Missense_Mutation_p.R316H|BCAT2_ENST00000597011.1_Missense_Mutation_p.R276H|BCAT2_ENST00000545387.2_Missense_Mutation_p.R224H|BCAT2_ENST00000599246.1_Missense_Mutation_p.R224H	p.R276H			O15382	BCAT2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	10	1447	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	316					B2RB87|O00269|Q96KG1|Q9BTB6|Q9BUU6	Missense_Mutation	SNP	ENST00000316273.6	37	c.827G>A	CCDS12735.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689046	0.68271	4.54E-4	0.0	ENSG00000105552	ENST00000316273;ENST00000545387;ENST00000402551	T;T;T	0.27890	1.64;1.64;1.64	4.59	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.70824	0.3268	H	0.99573	4.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.995;0.968;0.993	T	0.80917	-0.1168	10	0.87932	D	0	1.0471	10.8086	0.46533	0.0:0.9072:0.0:0.0928	.	276;316;224;316	B3KSI3;Q53EW7;O15382-2;O15382	.;.;.;BCAT2_HUMAN	H	316;224;276	ENSP00000322991:R316H;ENSP00000440973:R224H;ENSP00000385161:R276H	ENSP00000322991:R316H	R	-	2	0	BCAT2	53991765	0.995000	0.38212	0.503000	0.27626	0.309000	0.27889	3.315000	0.51951	1.307000	0.44944	0.561000	0.74099	CGC		0.662	BCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466202.1			4	138	0	0	0	1	0	4	138				
IL13RA2	3598	broad.mit.edu	37	X	114239848	114239848	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:114239848C>T	ENST00000371936.1	-	10	1277	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	IL13RA2_ENST00000243213.1_Missense_Mutation_p.R343H			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	343					cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TAGCCAGAAACGTAGCAAAGT	0.358																																						ENST00000371936.1																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						c.(1027-1029)cGt>cAt		interleukin 13 receptor, alpha 2							74.0	70.0	72.0					X																	114239848		2203	4300	6503	SO:0001583	missense	3598					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity	g.chrX:114239848C>T	X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229	ENST00000371936.1:c.1028G>A	X.37:g.114239848C>T	ENSP00000361004:p.Arg343His					IL13RA2_ENST00000243213.1_Missense_Mutation_p.R343H	p.R343H			Q14627	I13R2_HUMAN			10	1277	-			343					A8K7E2|O00667	Missense_Mutation	SNP	ENST00000371936.1	37	c.1028G>A	CCDS14565.1	.	.	.	.	.	.	.	.	.	.	c	2.918	-0.223744	0.06061	.	.	ENSG00000123496	ENST00000371936;ENST00000243213	D;D	0.90004	-2.6;-2.6	3.83	-1.32	0.09201	.	2.067560	0.01439	N	0.015027	T	0.71710	0.3372	N	0.08118	0	0.09310	N	1	B	0.27882	0.192	B	0.11329	0.006	T	0.63220	-0.6686	10	0.15066	T	0.55	-0.4023	0.2077	0.00153	0.3479:0.1687:0.2521:0.2313	.	343	Q14627	I13R2_HUMAN	H	343	ENSP00000361004:R343H;ENSP00000243213:R343H	ENSP00000243213:R343H	R	-	2	0	IL13RA2	114146104	0.102000	0.21896	0.001000	0.08648	0.001000	0.01503	0.170000	0.16663	-0.375000	0.07955	-1.393000	0.01150	CGT		0.358	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057966.1	NM_000640		46	26	0	0	0	1	0	46	26				
TENM4	26011	broad.mit.edu	37	11	78369110	78369110	+	Missense_Mutation	SNP	C	C	T	rs374118156		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:78369110C>T	ENST00000278550.7	-	34	8765	c.8303G>A	c.(8302-8304)cGg>cAg	p.R2768Q		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2768					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.R2768Q(2)									CTGTCACCTCCGGCCCATCTC	0.478																																						ENST00000278550.7																			2	Substitution - Missense(2)	p.R2768Q(2)	endometrium(2)								c.(8302-8304)cGg>cAg		teneurin transmembrane protein 4		C	GLN/ARG	0,4224		0,0,2112	235.0	246.0	242.0		8303	5.5	1.0	11		242	1,8433		0,1,4216	no	missense	ODZ4	NM_001098816.2	43	0,1,6328	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	2768/2770	78369110	1,12657	2112	4217	6329	SO:0001583	missense	26011							g.chr11:78369110C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8303G>A	11.37:g.78369110C>T	ENSP00000278550:p.Arg2768Gln						p.R2768Q	NM_001098816.2	NP_001092286.2					34	8765	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8303G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122761	0.94429	0.0	1.19E-4	ENSG00000149256	ENST00000278550	D	0.90900	-2.75	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.94729	0.8299	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	D	0.93599	0.6928	9	.	.	.	.	19.6296	0.95694	0.0:1.0:0.0:0.0	.	2768	Q6N022	TEN4_HUMAN	Q	2768	ENSP00000278550:R2768Q	.	R	-	2	0	ODZ4	78046758	1.000000	0.71417	0.987000	0.45799	0.990000	0.78478	5.890000	0.69774	2.873000	0.98535	0.563000	0.77884	CGG		0.478	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			5	348	0	0	0	1	0	5	348				
OR2H1	26716	broad.mit.edu	37	6	29429979	29429979	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:29429979G>A	ENST00000377136.1	+	4	898	c.433G>A	c.(433-435)Gtg>Atg	p.V145M	OR2H1_ENST00000377132.1_Missense_Mutation_p.V145M|OR2H1_ENST00000377133.1_Missense_Mutation_p.V145M|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000396792.2_Missense_Mutation_p.V145M|OR2H1_ENST00000442615.1_Missense_Mutation_p.V145M			Q9GZK4	OR2H1_HUMAN	olfactory receptor, family 2, subfamily H, member 1	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(12)	17						GCTGGCATCTGTGGCCTGGGT	0.562																																						ENST00000377136.1																			0				large_intestine(5)|lung(12)	17						c.(433-435)Gtg>Atg		olfactory receptor, family 2, subfamily H, member 1							183.0	188.0	187.0					6																	29429979		1510	2708	4218	SO:0001583	missense	26716				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29429979G>A	AF044491	CCDS4660.1	6p22.1	2014-02-19	2002-02-28		ENSG00000204688	ENSG00000204688		"""GPCR / Class A : Olfactory receptors"""	8252	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily H, member 8"""	OR2H6, OR2H8			Standard	NM_030883		Approved	OR6-2	uc003nmi.3	Q9GZK4	OTTHUMG00000031050	ENST00000377136.1:c.433G>A	6.37:g.29429979G>A	ENSP00000366340:p.Val145Met					OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377133.1_Missense_Mutation_p.V145M|OR2H1_ENST00000377132.1_Missense_Mutation_p.V145M|OR2H1_ENST00000442615.1_Missense_Mutation_p.V145M|OR2H1_ENST00000396792.2_Missense_Mutation_p.V145M	p.V145M			Q9GZK4	OR2H1_HUMAN			4	898	+			145					B0S7T4|O43629|O43661|O43662|Q5SUN6|Q9GZK9	Missense_Mutation	SNP	ENST00000377136.1	37	c.433G>A	CCDS4660.1	.	.	.	.	.	.	.	.	.	.	G	6.832	0.522602	0.13066	.	.	ENSG00000204688	ENST00000377136;ENST00000377133;ENST00000442615;ENST00000377132;ENST00000396792	T;T;T;T;T	0.00344	8.02;8.02;8.02;8.02;8.02	2.92	1.09	0.20402	GPCR, rhodopsin-like superfamily (1);	0.638091	0.13007	N	0.421216	T	0.00073	0.0002	L	0.46670	1.46	0.09310	N	1	B	0.33448	0.412	B	0.33799	0.17	T	0.03597	-1.1021	10	0.42905	T	0.14	.	7.7114	0.28679	0.3111:0.0:0.6889:0.0	.	145	Q9GZK4	OR2H1_HUMAN	M	145	ENSP00000366340:V145M;ENSP00000366337:V145M;ENSP00000393254:V145M;ENSP00000366336:V145M;ENSP00000380010:V145M	ENSP00000366336:V145M	V	+	1	0	OR2H1	29537958	0.000000	0.05858	0.509000	0.27700	0.925000	0.55904	-0.907000	0.04067	0.283000	0.22279	0.603000	0.83216	GTG		0.562	OR2H1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194014.3			74	147	0	0	0	1	0	74	147				
RIPK4	54101	broad.mit.edu	37	21	43171260	43171260	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:43171260T>C	ENST00000352483.2	-	3	684	c.620A>G	c.(619-621)tAc>tGc	p.Y207C	RIPK4_ENST00000332512.3_Missense_Mutation_p.Y207C|RIPK4_ENST00000544709.1_Missense_Mutation_p.Y144C|RIPK4_ENST00000542057.1_Missense_Mutation_p.Y144C			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	207	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CACACACCTGTATACATCGTG	0.587																																						ENST00000352483.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(619-621)tAc>tGc		receptor-interacting serine-threonine kinase 4							90.0	76.0	81.0					21																	43171260		2203	4300	6503	SO:0001583	missense	54101					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	g.chr21:43171260T>C	AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.620A>G	21.37:g.43171260T>C	ENSP00000330161:p.Tyr207Cys					RIPK4_ENST00000544709.1_Missense_Mutation_p.Y144C|RIPK4_ENST00000332512.3_Missense_Mutation_p.Y207C|RIPK4_ENST00000542057.1_Missense_Mutation_p.Y144C	p.Y207C			Q96T11	Q96T11_HUMAN			3	684	-			207					Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37	c.620A>G		.	.	.	.	.	.	.	.	.	.	T	19.54	3.846176	0.71603	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	4.59	4.59	0.56863	.	0.000000	0.52532	D	0.000078	D	0.89763	0.6809	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93110	0.6516	10	0.87932	D	0	.	13.1585	0.59531	0.0:0.0:0.0:1.0	.	207	P57078-2	.	C	207;207;144;144	ENSP00000332454:Y207C;ENSP00000330161:Y207C;ENSP00000441754:Y144C;ENSP00000442901:Y144C	ENSP00000332454:Y207C	Y	-	2	0	RIPK4	42044329	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.787000	0.85759	1.698000	0.51180	0.459000	0.35465	TAC		0.587	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		20	34	0	0	0	1	0	20	34				
USP49	25862	broad.mit.edu	37	6	41773964	41773964	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:41773964G>A	ENST00000394253.3	-	3	1087	c.758C>T	c.(757-759)aCg>aTg	p.T253M	USP49_ENST00000373010.1_Missense_Mutation_p.T253M|USP49_ENST00000373009.3_Missense_Mutation_p.T253M|USP49_ENST00000297229.2_Missense_Mutation_p.T253M|USP49_ENST00000373006.1_Missense_Mutation_p.T253M			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	253	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGCAGGCCCGTGACGCCTGG	0.672																																						ENST00000394253.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23						c.(757-759)aCg>aTg		ubiquitin specific peptidase 49							38.0	39.0	39.0					6																	41773964		2201	4297	6498	SO:0001583	missense	25862				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:41773964G>A	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.758C>T	6.37:g.41773964G>A	ENSP00000377797:p.Thr253Met					USP49_ENST00000373009.3_Missense_Mutation_p.T253M|USP49_ENST00000297229.2_Missense_Mutation_p.T253M|USP49_ENST00000373006.1_Missense_Mutation_p.T253M|USP49_ENST00000373010.1_Missense_Mutation_p.T253M	p.T253M			Q70CQ1	UBP49_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		3	1087	-	Ovarian(28;0.0919)|Colorectal(47;0.121)		253					Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	37	c.758C>T		.	.	.	.	.	.	.	.	.	.	G	19.41	3.821933	0.71028	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.75260	4.04;4.04;4.04;-0.92;-0.92	4.58	4.58	0.56647	.	0.105507	0.64402	D	0.000004	D	0.87034	0.6077	M	0.90019	3.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.75484	0.986	D	0.89873	0.4024	10	0.87932	D	0	-2.98	17.1565	0.86792	0.0:0.0:1.0:0.0	.	253	Q70CQ1-2	.	M	253	ENSP00000377797:T253M;ENSP00000362101:T253M;ENSP00000362100:T253M;ENSP00000362097:T253M;ENSP00000297229:T253M	ENSP00000297229:T253M	T	-	2	0	USP49	41881942	1.000000	0.71417	0.494000	0.27515	0.861000	0.49209	7.310000	0.78947	2.373000	0.80994	0.655000	0.94253	ACG		0.672	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561		4	91	0	0	0	1	0	4	91				
GRIN3A	116443	broad.mit.edu	37	9	104449287	104449287	+	Missense_Mutation	SNP	C	C	T	rs375779429		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:104449287C>T	ENST00000361820.3	-	2	1495	c.895G>A	c.(895-897)Gct>Act	p.A299T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	299					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.A299T(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGGAGGTTAGCGGTGATGTTG	0.498																																						ENST00000361820.3																			2	Substitution - Missense(2)	p.A299T(2)	large_intestine(1)|pancreas(1)	breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80						c.(895-897)Gct>Act		glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						141.0	126.0	131.0					9																	104449287		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104449287C>T		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.895G>A	9.37:g.104449287C>T	ENSP00000355155:p.Ala299Thr						p.A299T	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN			2	1495	-		Acute lymphoblastic leukemia(62;0.0568)	299					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.895G>A	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	1.969	-0.437079	0.04636	.	.	ENSG00000198785	ENST00000361820	D	0.86694	-2.16	5.82	-0.00495	0.14019	.	0.625388	0.16748	N	0.201160	T	0.70657	0.3249	N	0.12182	0.205	0.18873	N	0.999986	B	0.06786	0.001	B	0.01281	0.0	T	0.52682	-0.8543	10	0.09084	T	0.74	.	10.4819	0.44698	0.0:0.6671:0.0:0.3329	.	299	Q8TCU5	NMD3A_HUMAN	T	299	ENSP00000355155:A299T	ENSP00000355155:A299T	A	-	1	0	GRIN3A	103489108	0.004000	0.15560	0.165000	0.22776	0.738000	0.42128	0.021000	0.13489	-0.056000	0.13221	0.557000	0.71058	GCT		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			12	74	0	0	0	1	0	12	74				
LARGE	9215	broad.mit.edu	37	22	33780180	33780180	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:33780180G>A	ENST00000354992.2	-	9	1574	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*	LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q335*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000452586.2_Nonsense_Mutation_p.Q134*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q335*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	335					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCACTCACCTGGTCAGCTAAG	0.483																																					Colon(70;397 1175 4573 19089 45288)	ENST00000354992.2																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1003-1005)Cag>Tag		like-glycosyltransferase							149.0	124.0	132.0					22																	33780180		2203	4300	6503	SO:0001587	stop_gained	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33780180G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1003C>T	22.37:g.33780180G>A	ENSP00000347088:p.Gln335*					LARGE_ENST00000452586.2_Nonsense_Mutation_p.Q134*|LARGE_ENST00000437602.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000397394.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000337431.2_Nonsense_Mutation_p.Q335*|LARGE_ENST00000402320.1_Nonsense_Mutation_p.Q335*	p.Q335*	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN			9	1574	-		Lung NSC(1;0.219)	335					B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Nonsense_Mutation	SNP	ENST00000354992.2	37	c.1003C>T	CCDS13912.1	.	.	.	.	.	.	.	.	.	.	G	40	8.242750	0.98722	.	.	ENSG00000133424	ENST00000443693;ENST00000429788;ENST00000445431;ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602;ENST00000421768	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.1122	19.4661	0.94943	0.0:0.0:1.0:0.0	.	.	.	.	X	12;12;12;335;335;335;335;134;335;134	.	ENSP00000336636:Q335X	Q	-	1	0	LARGE	32110180	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.322000	0.96357	2.653000	0.90120	0.563000	0.77884	CAG		0.483	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		19	138	0	0	0	1	0	19	138				
NME8	51314	broad.mit.edu	37	7	37924037	37924037	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:37924037A>G	ENST00000199447.4	+	13	1499	c.1127A>G	c.(1126-1128)gAa>gGa	p.E376G	NME8_ENST00000440017.1_Missense_Mutation_p.E376G|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	376	NDK 2.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										AAACTTATAGAAAACATGACC	0.318																																						ENST00000199447.4																			0											c.(1126-1128)gAa>gGa		NME/NM23 family member 8							43.0	44.0	44.0					7																	37924037		2203	4285	6488	SO:0001583	missense	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37924037A>G	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.1127A>G	7.37:g.37924037A>G	ENSP00000199447:p.Glu376Gly					NME8_ENST00000440017.1_Missense_Mutation_p.E376G|EPDR1_ENST00000476620.1_Intron	p.E376G	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN			13	1499	+			376			NDK 2.		Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	c.1127A>G	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	A	9.400	1.077688	0.20227	.	.	ENSG00000086288	ENST00000199447;ENST00000440017	T;T	0.57752	0.38;0.38	3.91	1.57	0.23409	.	1.131480	0.06548	N	0.744407	T	0.41858	0.1177	L	0.34521	1.04	0.09310	N	1	B	0.17852	0.024	B	0.26614	0.071	T	0.34725	-0.9817	10	0.30854	T	0.27	-1.7718	6.1835	0.20484	0.776:0.0:0.224:0.0	.	376	Q8N427	TXND3_HUMAN	G	376	ENSP00000199447:E376G;ENSP00000397063:E376G	ENSP00000199447:E376G	E	+	2	0	TXNDC3	37890562	0.512000	0.26186	0.067000	0.19924	0.989000	0.77384	0.737000	0.26144	0.349000	0.23975	0.473000	0.43528	GAA		0.318	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616		10	63	0	0	0	1	0	10	63				
MAPK14	1432	broad.mit.edu	37	6	36043720	36043720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:36043720G>A	ENST00000229794.4	+	7	979	c.591G>A	c.(589-591)tgG>tgA	p.W197*	MAPK14_ENST00000229795.3_Nonsense_Mutation_p.W197*|MAPK14_ENST00000310795.4_Nonsense_Mutation_p.W197*|MAPK14_ENST00000468133.1_Nonsense_Mutation_p.W120*	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TGCTGAACTGGATGCATTACA	0.453																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)	ENST00000229795.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						c.(589-591)tgG>tgA		mitogen-activated protein kinase 14							129.0	115.0	120.0					6																	36043720		2203	4300	6503	SO:0001587	stop_gained	1432				activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	g.chr6:36043720G>A	L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.591G>A	6.37:g.36043720G>A	ENSP00000229794:p.Trp197*					MAPK14_ENST00000468133.1_Nonsense_Mutation_p.W120*|MAPK14_ENST00000310795.4_Nonsense_Mutation_p.W197*|MAPK14_ENST00000229794.4_Nonsense_Mutation_p.W197*	p.W197*	NM_001315.2	NP_001306.1	Q16539	MK14_HUMAN			7	1038	+			197			Protein kinase.		A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Nonsense_Mutation	SNP	ENST00000229794.4	37	c.591G>A	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	G	41	9.055436	0.99050	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133;ENST00000310795;ENST00000472333	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.8466	20.4387	0.99107	0.0:0.0:1.0:0.0	.	.	.	.	X	197;197;120;197;120	.	ENSP00000229794:W197X	W	+	3	0	MAPK14	36151698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.836000	0.97738	0.655000	0.94253	TGG		0.453	MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315		20	46	0	0	0	1	0	20	46				
SENP7	57337	broad.mit.edu	37	3	101059042	101059042	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:101059042G>A	ENST00000394095.2	-	16	2307	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	SENP7_ENST00000314261.7_Missense_Mutation_p.P686S|SENP7_ENST00000348610.3_Missense_Mutation_p.P719S|SENP7_ENST00000394094.2_Missense_Mutation_p.P687S|SENP7_ENST00000394091.1_Missense_Mutation_p.P588S|SENP7_ENST00000358203.3_Missense_Mutation_p.P588S	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	752						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTGGTGGAGGATATACAATC	0.313																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(2254-2256)Cct>Tct		SUMO1/sentrin specific peptidase 7							49.0	45.0	46.0					3																	101059042		2203	4283	6486	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101059042G>A		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2254C>T	3.37:g.101059042G>A	ENSP00000377655:p.Pro752Ser					SENP7_ENST00000314261.7_Missense_Mutation_p.P686S|SENP7_ENST00000348610.3_Missense_Mutation_p.P719S|SENP7_ENST00000394094.2_Missense_Mutation_p.P687S|SENP7_ENST00000358203.3_Missense_Mutation_p.P588S|SENP7_ENST00000394091.1_Missense_Mutation_p.P588S	p.P752S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			16	2307	-			752					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2254C>T	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	G	24.0	4.486551	0.84854	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000348610	T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.58495	0.2126	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.995	T	0.62105	-0.6924	10	0.87932	D	0	-14.3512	18.8056	0.92035	0.0:0.0:1.0:0.0	.	588;686;719;752	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6	.;.;.;SENP7_HUMAN	S	752;687;686;588;588;719	ENSP00000377655:P752S;ENSP00000377654:P687S;ENSP00000313624:P686S;ENSP00000377651:P588S;ENSP00000350936:P588S;ENSP00000342159:P719S	ENSP00000313624:P686S	P	-	1	0	SENP7	102541732	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.681000	0.91228	2.606000	0.88127	0.563000	0.77884	CCT		0.313	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		5	8	0	0	0	1	0	5	8				
PPP1R26	9858	broad.mit.edu	37	9	138376659	138376659	+	Silent	SNP	C	C	T	rs201939322		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:138376659C>T	ENST00000356818.2	+	4	852	c.303C>T	c.(301-303)ctC>ctT	p.L101L	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Silent_p.L101L|PPP1R26_ENST00000605286.1_Silent_p.L101L|PPP1R26_ENST00000604351.1_Silent_p.L101L|PPP1R26_ENST00000401470.3_Silent_p.L101L	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	101					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TCTGTGGTCTCGTTGCTGACT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16391	0.001		0.0	False		,,,				2504	0.0					ENST00000356818.2																			0											c.(301-303)ctC>ctT		protein phosphatase 1, regulatory subunit 26							44.0	52.0	50.0					9																	138376659		2202	4299	6501	SO:0001819	synonymous_variant	9858					nucleolus	protein binding	g.chr9:138376659C>T	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.303C>T	9.37:g.138376659C>T						PPP1R26_ENST00000401470.3_Silent_p.L101L|PPP1R26_ENST00000605660.1_Silent_p.L101L|PPP1R26_ENST00000605286.1_Silent_p.L101L|PPP1R26_ENST00000604351.1_Silent_p.L101L|PPP1R26_ENST00000602993.1_Intron	p.L101L	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN			4	852	+			101					Q86WU0|Q8WVV0|Q9Y4D3	Silent	SNP	ENST00000356818.2	37	c.303C>T	CCDS6988.1																																																																																				0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811		42	64	0	0	0	1	0	42	64				
IPO8	10526	broad.mit.edu	37	12	30837254	30837254	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:30837254G>A	ENST00000256079.4	-	3	642	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	IPO8_ENST00000538338.1_5'Flank	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	102	Importin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00115}.				intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.R102R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCTGGAGACCGAATTATTCCT	0.418																																						ENST00000256079.4																			1	Substitution - coding silent(1)	p.R102R(1)	lung(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52						c.(304-306)Cgg>Tgg		importin 8							243.0	218.0	227.0					12																	30837254		2203	4300	6503	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30837254G>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.304C>T	12.37:g.30837254G>A	ENSP00000256079:p.Arg102Trp						p.R102W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN			3	642	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		102			Importin N-terminal.		B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.304C>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857956	0.71834	.	.	ENSG00000133704	ENST00000256079;ENST00000535989;ENST00000543446	T;T;T	0.67523	-0.27;-0.27;-0.27	3.33	2.44	0.29823	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2);	0.122950	0.56097	D	0.000029	T	0.73869	0.3642	L	0.55481	1.735	0.80722	D	1	D	0.71674	0.998	D	0.64410	0.925	T	0.75654	-0.3243	10	0.72032	D	0.01	-13.9444	11.3006	0.49302	0.0923:0.0:0.9077:0.0	.	102	O15397	IPO8_HUMAN	W	102;40;79	ENSP00000256079:R102W;ENSP00000440979:R40W;ENSP00000439413:R79W	ENSP00000256079:R102W	R	-	1	2	IPO8	30728521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.191000	0.94940	0.987000	0.38709	0.585000	0.79938	CGG		0.418	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		5	120	0	0	0	1	0	5	120				
USP34	9736	broad.mit.edu	37	2	61575592	61575592	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61575592G>A	ENST00000398571.2	-	15	1774	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	566					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGCAGTTTCGTCAGAACTTC	0.388																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(1696-1698)gaC>gaT		ubiquitin specific peptidase 34							127.0	122.0	124.0					2																	61575592		1981	4169	6150	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61575592G>A	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1698C>T	2.37:g.61575592G>A							p.D566D	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		15	1774	-			566					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.1698C>T	CCDS42686.1																																																																																				0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			55	147	0	0	0	1	0	55	147				
KIF7	374654	broad.mit.edu	37	15	90172216	90172216	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:90172216G>T	ENST00000394412.3	-	18	3731	c.3655C>A	c.(3655-3657)Cac>Aac	p.H1219N	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1219					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCTGCTGTGGCCTACAGCG	0.537																																						ENST00000394412.3																			0				central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25						c.(3655-3657)Cac>Aac		kinesin family member 7							133.0	133.0	133.0					15																	90172216		2200	4299	6499	SO:0001583	missense	374654				microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding	g.chr15:90172216G>T	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3655C>A	15.37:g.90172216G>T	ENSP00000377934:p.His1219Asn						p.H1219N	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		18	3731	-	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1219					Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	c.3655C>A	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	G	2.626	-0.287477	0.05605	.	.	ENSG00000166813	ENST00000394412	T	0.68903	-0.36	5.23	4.31	0.51392	.	0.618922	0.16119	N	0.228737	T	0.37999	0.1024	N	0.01705	-0.755	0.18873	N	0.999989	B;B	0.09022	0.0;0.002	B;B	0.09377	0.0;0.004	T	0.21348	-1.0248	10	0.26408	T	0.33	.	10.0007	0.41927	0.0776:0.1386:0.7838:0.0	.	705;1219	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	N	1219	ENSP00000377934:H1219N	ENSP00000377934:H1219N	H	-	1	0	KIF7	87973220	1.000000	0.71417	0.164000	0.22755	0.101000	0.19017	4.898000	0.63238	1.196000	0.43129	0.462000	0.41574	CAC		0.537	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525		44	101	1	0	4.01344e-20	1	4.97908e-20	44	101				
PCDH15	65217	broad.mit.edu	37	10	55583041	55583041	+	Missense_Mutation	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:55583041A>G	ENST00000320301.6	-	33	4839	c.4445T>C	c.(4444-4446)gTg>gCg	p.V1482A	PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459A|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479A|PCDH15_ENST00000361849.3_Missense_Mutation_p.V1484A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413A|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442A|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1482					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGGGCATCACAACTTGTTG	0.378										HNSCC(58;0.16)																												ENST00000361849.3																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4450-4452)gTg>gCg		protocadherin-related 15							117.0	117.0	117.0					10																	55583041		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55583041A>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4445T>C	10.37:g.55583041A>G	ENSP00000322604:p.Val1482Ala	HNSCC(58;0.16)				PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.V1413A|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.V1479A|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Missense_Mutation_p.V1459A|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.V1442A|PCDH15_ENST00000320301.6_Missense_Mutation_p.V1482A	p.V1484A	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN			34	4845	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1482					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4451T>C	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307996	0.23821	.	.	ENSG00000150275	ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T	0.57752	0.41;0.38;0.41;0.39;0.39;0.4	5.67	-6.34	0.01982	.	.	.	.	.	T	0.36166	0.0957	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.002;0.002;0.003;0.002	T	0.32428	-0.9907	9	0.56958	D	0.05	.	4.46	0.11661	0.3863:0.4179:0.098:0.0978	.	1459;1482;1484;1489;1413;1442;1479;1482	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;Q96QU1	.;.;.;.;.;.;.;PCD15_HUMAN	A	1442;1484;1459;1482;1479;1489;1413	ENSP00000378820:V1442A;ENSP00000354950:V1484A;ENSP00000378821:V1459A;ENSP00000322604:V1482A;ENSP00000378818:V1479A;ENSP00000412628:V1413A	ENSP00000322604:V1482A	V	-	2	0	PCDH15	55253047	0.363000	0.24989	0.000000	0.03702	0.337000	0.28794	0.452000	0.21795	-1.384000	0.02103	-0.321000	0.08615	GTG		0.378	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		24	43	0	0	0	1	0	24	43				
LOC101927209	101927209	broad.mit.edu	37	1	142713945	142713945	+	lincRNA	SNP	G	G	A	rs556391324	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:142713945G>A	ENST00000610091.1	-	0	1713																											GATTACCTCCGAAGTTAAAGA	0.313													.|||	3	0.000599042	0.0008	0.0	5008	,	,		19795	0.0		0.001	False		,,,				2504	0.001					ENST00000369381.2																			0																																																			101927209							g.chr1:142713945G>A																													1.37:g.142713945G>A														0	660	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.313	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			7	29	0	0	0	1	0	7	29				
TMEM132A	54972	broad.mit.edu	37	11	60696242	60696242	+	Missense_Mutation	SNP	G	G	A	rs374644513		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:60696242G>A	ENST00000453848.2	+	4	834	c.676G>A	c.(676-678)Gac>Aac	p.D226N	TMEM132A_ENST00000005286.4_Missense_Mutation_p.D226N			Q24JP5	T132A_HUMAN	transmembrane protein 132A	226						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CGAGGAGAACGACCCTGGGGA	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15127	0.0		0.0	False		,,,				2504	0.0					ENST00000005286.4																			0				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						c.(676-678)Gac>Aac		transmembrane protein 132A		G	ASN/ASP,ASN/ASP	0,4394		0,0,2197	17.0	18.0	18.0		676,676	3.4	0.8	11		18	1,8581		0,1,4290	no	missense,missense	TMEM132A	NM_017870.3,NM_178031.2	23,23	0,1,6487	AA,AG,GG		0.0117,0.0,0.0077	benign,benign	226/1025,226/1024	60696242	1,12975	2197	4291	6488	SO:0001583	missense	54972					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:60696242G>A	AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.676G>A	11.37:g.60696242G>A	ENSP00000405823:p.Asp226Asn					TMEM132A_ENST00000453848.2_Missense_Mutation_p.D226N	p.D226N	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN			4	829	+			226					Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	ENST00000453848.2	37	c.676G>A	CCDS44618.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273288	0.23221	0.0	1.17E-4	ENSG00000006118	ENST00000453848;ENST00000005286	T;T	0.05580	3.42;3.42	4.38	3.44	0.39384	.	0.335009	0.20975	N	0.082309	T	0.05318	0.0141	L	0.40543	1.245	0.09310	N	1	P;P;P	0.38677	0.642;0.456;0.456	B;B;B	0.27608	0.054;0.081;0.081	T	0.34750	-0.9816	10	0.87932	D	0	.	11.266	0.49110	0.0944:0.0:0.9056:0.0	.	215;226;226	Q24JP5-3;Q24JP5;Q24JP5-2	.;T132A_HUMAN;.	N	226	ENSP00000405823:D226N;ENSP00000005286:D226N	ENSP00000005286:D226N	D	+	1	0	TMEM132A	60452818	0.001000	0.12720	0.763000	0.31416	0.077000	0.17291	0.865000	0.27940	2.162000	0.67917	0.555000	0.69702	GAC		0.697	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396352.1	NM_017870		6	16	0	0	0	1	0	6	16				
FAT3	120114	broad.mit.edu	37	11	92532028	92532028	+	Missense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:92532028A>T	ENST00000298047.6	+	9	5866	c.5849A>T	c.(5848-5850)cAc>cTc	p.H1950L	FAT3_ENST00000525166.1_Missense_Mutation_p.H1800L|FAT3_ENST00000409404.2_Missense_Mutation_p.H1950L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1950	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCAAGGATCACTACATGCTG	0.418										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5848-5850)cAc>cTc		FAT atypical cadherin 3							91.0	86.0	87.0					11																	92532028		1902	4131	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532028A>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5849A>T	11.37:g.92532028A>T	ENSP00000298047:p.His1950Leu	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.H1950L|FAT3_ENST00000525166.1_Missense_Mutation_p.H1800L	p.H1950L			Q8TDW7	FAT3_HUMAN			9	5866	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1950			Cadherin 17.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.5849A>T		.	.	.	.	.	.	.	.	.	.	A	11.26	1.585911	0.28268	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01629	4.72;4.72;4.72	6.02	6.02	0.97574	.	.	.	.	.	T	0.01320	0.0043	N	0.04880	-0.145	0.80722	D	1	B	0.15930	0.015	B	0.15052	0.012	T	0.61093	-0.7132	9	0.10902	T	0.67	.	16.5446	0.84426	1.0:0.0:0.0:0.0	.	1950	Q8TDW7-3	.	L	1950;1950;1800	ENSP00000298047:H1950L;ENSP00000387040:H1950L;ENSP00000432586:H1800L	ENSP00000298047:H1950L	H	+	2	0	FAT3	92171676	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.913000	0.69957	2.311000	0.77944	0.533000	0.62120	CAC		0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		15	60	0	0	0	1	0	15	60				
KCTD3	51133	broad.mit.edu	37	1	215752352	215752352	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:215752352G>T	ENST00000259154.4	+	7	701	c.407G>T	c.(406-408)aGt>aTt	p.S136I		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	136					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GGTATTCCTAGTCGTAAAATA	0.348																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(406-408)aGt>aTt		potassium channel tetramerization domain containing 3							64.0	64.0	64.0					1																	215752352		2203	4300	6503	SO:0001583	missense	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215752352G>T	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.407G>T	1.37:g.215752352G>T	ENSP00000259154:p.Ser136Ile						p.S136I	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	7	701	+			136					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Missense_Mutation	SNP	ENST00000259154.4	37	c.407G>T	CCDS1515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.51|11.51	1.659043|1.659043	0.29515|0.29515	.|.	.|.	ENSG00000136636|ENSG00000136636	ENST00000259154;ENST00000366945|ENST00000448333	T|.	0.38240|.	1.15|.	5.7|5.7	3.8|3.8	0.43715|0.43715	.|.	0.307497|.	0.45126|.	D|.	0.000396|.	T|.	0.41558|.	0.1164|.	N|N	0.22421|0.22421	0.69|0.69	0.41184|0.41184	D|D	0.986253|0.986253	B;B|.	0.19200|.	0.034;0.001|.	B;B|.	0.21708|.	0.036;0.004|.	T|.	0.16335|.	-1.0406|.	10|.	0.35671|.	T|.	0.21|.	-11.5121|-11.5121	8.9338|8.9338	0.35686|0.35686	0.0796:0.1484:0.7719:0.0|0.0796:0.1484:0.7719:0.0	.|.	136;136|.	Q9Y597-2;Q9Y597|.	.;KCTD3_HUMAN|.	I|Y	136|108	ENSP00000259154:S136I|.	ENSP00000259154:S136I|.	S|X	+|+	2|3	0|2	KCTD3|KCTD3	213818975|213818975	0.125000|0.125000	0.22332|0.22332	0.960000|0.960000	0.40013|0.40013	0.719000|0.719000	0.41307|0.41307	0.581000|0.581000	0.23819|0.23819	0.726000|0.726000	0.32339|0.32339	0.563000|0.563000	0.77884|0.77884	AGT|TAG		0.348	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		6	18	1	0	0.00116845	1	0.00122798	6	18				
MOB1B	92597	broad.mit.edu	37	4	71844867	71844867	+	Missense_Mutation	SNP	C	C	A	rs537448770		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:71844867C>A	ENST00000309395.2	+	5	633	c.432C>A	c.(430-432)ttC>ttA	p.F144L	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.F149L	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	144					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										CAAAGAATTTCATGTCTGTGG	0.418																																						ENST00000309395.2																			0											c.(430-432)ttC>ttA		MOB kinase activator 1B							149.0	148.0	148.0					4																	71844867		2203	4300	6503	SO:0001583	missense	92597				hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding	g.chr4:71844867C>A	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.432C>A	4.37:g.71844867C>A	ENSP00000310189:p.Phe144Leu					MOB1B_ENST00000396051.2_Missense_Mutation_p.F149L|MOB1B_ENST00000511449.1_Intron	p.F144L	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOL1A_HUMAN			5	633	+			144					B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	ENST00000309395.2	37	c.432C>A	CCDS34002.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.108807	0.77096	.	.	ENSG00000173542	ENST00000309395;ENST00000396051	.	.	.	5.26	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.85331	0.5672	H	0.96489	3.83	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.68192	0.956;0.956	D	0.87777	0.2609	9	0.87932	D	0	-38.4369	10.0345	0.42120	0.0:0.8453:0.0:0.1547	.	149;144	B4DRY3;Q7L9L4	.;MOB1B_HUMAN	L	144;149	.	ENSP00000310189:F144L	F	+	3	2	MOBKL1A	72063731	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.982000	0.40638	1.204000	0.43247	0.561000	0.74099	TTC		0.418	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362634.1	NM_173468		14	78	1	0	3.27435e-08	1	3.60179e-08	14	78				
TLR5	7100	broad.mit.edu	37	1	223284505	223284505	+	Silent	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:223284505A>G	ENST00000540964.1	-	4	2330	c.1869T>C	c.(1867-1869)tcT>tcC	p.S623S	TLR5_ENST00000342210.6_Silent_p.S623S			O60602	TLR5_HUMAN	toll-like receptor 5	623	LRRCT.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). {ECO:0000269|PubMed:14623910}.		cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CCGTGGAAAGAGAGAAGAGGG	0.448																																						ENST00000540964.1																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1867-1869)tcT>tcC		toll-like receptor 5							87.0	90.0	89.0					1																	223284505		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223284505A>G		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1869T>C	1.37:g.223284505A>G						TLR5_ENST00000342210.6_Silent_p.S623S	p.S623S			O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	2330	-			623		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1869T>C	CCDS31033.1																																																																																				0.448	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003268		23	33	0	0	0	1	0	23	33				
BIN1	274	broad.mit.edu	37	2	127828359	127828359	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:127828359T>C	ENST00000316724.5	-	3	610	c.199A>G	c.(199-201)Acc>Gcc	p.T67A	BIN1_ENST00000351659.3_Missense_Mutation_p.T67A|BIN1_ENST00000352848.3_Missense_Mutation_p.T67A|BIN1_ENST00000393041.3_Missense_Mutation_p.T67A|BIN1_ENST00000409400.1_Missense_Mutation_p.T67A|BIN1_ENST00000376113.2_Missense_Mutation_p.T67A|BIN1_ENST00000346226.3_Missense_Mutation_p.T67A|BIN1_ENST00000357970.3_Missense_Mutation_p.T67A|BIN1_ENST00000348750.4_Missense_Mutation_p.T67A|BIN1_ENST00000393040.3_Missense_Mutation_p.T67A|BIN1_ENST00000259238.4_Missense_Mutation_p.T67A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	67	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.|Interaction with BIN2.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCCAGGTAGGTCCGGAGATCC	0.637																																						ENST00000316724.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(199-201)Acc>Gcc		bridging integrator 1							51.0	49.0	50.0					2																	127828359		2203	4300	6503	SO:0001583	missense	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127828359T>C	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.199A>G	2.37:g.127828359T>C	ENSP00000316779:p.Thr67Ala					BIN1_ENST00000357970.3_Missense_Mutation_p.T67A|BIN1_ENST00000376113.2_Missense_Mutation_p.T67A|BIN1_ENST00000351659.3_Missense_Mutation_p.T67A|BIN1_ENST00000352848.3_Missense_Mutation_p.T67A|BIN1_ENST00000348750.4_Missense_Mutation_p.T67A|BIN1_ENST00000393040.3_Missense_Mutation_p.T67A|BIN1_ENST00000409400.1_Missense_Mutation_p.T67A|BIN1_ENST00000346226.3_Missense_Mutation_p.T67A|BIN1_ENST00000393041.3_Missense_Mutation_p.T67A|BIN1_ENST00000259238.4_Missense_Mutation_p.T67A	p.T67A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	610	-	Colorectal(110;0.0831)		67			BAR.|Interaction with BIN2.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	c.199A>G	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	T	3.770	-0.047858	0.07407	.	.	ENSG00000136717	ENST00000376113;ENST00000357970;ENST00000393040;ENST00000348750;ENST00000259238;ENST00000346226;ENST00000393041;ENST00000351659;ENST00000352848;ENST00000316724;ENST00000409400	T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	4.48	3.29	0.37713	BAR (3);	0.119241	0.64402	D	0.000014	T	0.17408	0.0418	N	0.00337	-1.62	0.44462	D	0.997395	B;B;B;B;B;B;B;B;B;B;B;B;B	0.15930	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.004;0.0;0.0;0.015	B;B;B;B;B;B;B;B;B;B;B;B;B	0.23150	0.004;0.0;0.001;0.0;0.001;0.0;0.003;0.0;0.001;0.002;0.001;0.0;0.044	T	0.36720	-0.9736	10	0.05436	T	0.98	-13.438	8.0073	0.30332	0.0:0.0993:0.0:0.9007	.	67;43;67;67;67;67;67;67;67;67;67;67;67	B7Z2Z2;B7Z6Y2;O00499-4;O00499-7;O00499-6;O00499-2;O00499-3;O00499-8;O00499-11;O00499-5;O00499-10;O00499-9;O00499	.;.;.;.;.;.;.;.;.;.;.;.;BIN1_HUMAN	A	67	ENSP00000365281:T67A;ENSP00000350654:T67A;ENSP00000376760:T67A;ENSP00000259237:T67A;ENSP00000259238:T67A;ENSP00000315411:T67A;ENSP00000376761:T67A;ENSP00000315388:T67A;ENSP00000315284:T67A;ENSP00000316779:T67A;ENSP00000386797:T67A	ENSP00000259238:T67A	T	-	1	0	BIN1	127544829	0.996000	0.38824	1.000000	0.80357	0.845000	0.48019	2.742000	0.47434	1.881000	0.54492	0.454000	0.30748	ACC		0.637	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343		12	43	0	0	0	1	0	12	43				
NMI	9111	broad.mit.edu	37	2	152135371	152135371	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:152135371T>C	ENST00000243346.5	-	4	781	c.311A>G	c.(310-312)cAa>cGa	p.Q104R		NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN	N-myc (and STAT) interactor	104					inflammatory response (GO:0006954)|JAK-STAT cascade (GO:0007259)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription cofactor activity (GO:0003712)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				BRCA - Breast invasive adenocarcinoma(221;0.0571)		GATAAGTGCTTGTCCTTTTTG	0.343																																						ENST00000243346.5																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(310-312)cAa>cGa		N-myc (and STAT) interactor							106.0	100.0	102.0					2																	152135371		2202	4299	6501	SO:0001583	missense	9111				inflammatory response|JAK-STAT cascade|transcription from RNA polymerase II promoter	cytoplasm|nucleus	nucleotide binding|protein binding|transcription cofactor activity	g.chr2:152135371T>C	U32849	CCDS2192.1	2q23	2008-05-23			ENSG00000123609	ENSG00000123609			7854	protein-coding gene	gene with protein product		603525				8668343, 9989503	Standard	NM_004688		Approved		uc002txi.2	Q13287	OTTHUMG00000131867	ENST00000243346.5:c.311A>G	2.37:g.152135371T>C	ENSP00000243346:p.Gln104Arg						p.Q104R	NM_004688.2	NP_004679.2	Q13287	NMI_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0571)	4	781	-			104					B5BU69|Q53TI8|Q9BVE5	Missense_Mutation	SNP	ENST00000243346.5	37	c.311A>G	CCDS2192.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.301334	0.81136	.	.	ENSG00000123609	ENST00000243346	T	0.05786	3.39	5.4	5.4	0.78164	Nucleotide-binding, alpha-beta plait (1);Interferon induced 35kDa, N-terminal (1);	0.168657	0.53938	D	0.000056	T	0.21062	0.0507	M	0.66939	2.045	0.44295	D	0.997162	P;D	0.65815	0.954;0.995	P;D	0.68621	0.759;0.959	T	0.00213	-1.1913	10	0.72032	D	0.01	-8.95	11.8115	0.52185	0.0:0.0:0.0:1.0	.	104;104	B4DQD4;Q13287	.;NMI_HUMAN	R	104	ENSP00000243346:Q104R	ENSP00000243346:Q104R	Q	-	2	0	NMI	151843617	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	4.875000	0.63072	2.049000	0.60858	0.482000	0.46254	CAA		0.343	NMI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254817.2	NM_004688		9	17	0	0	0	1	0	9	17				
DNAH8	1769	broad.mit.edu	37	6	38906573	38906573	+	Splice_Site	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:38906573G>C	ENST00000359357.3	+	77	11419		c.e77-1		RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGTGTTTCAGATCTGAAAAG	0.348																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.e77-1		dynein, axonemal, heavy chain 8							57.0	55.0	56.0					6																	38906573		2203	4300	6503	SO:0001630	splice_region_variant	1769							g.chr6:38906573G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.11166-1G>C	6.37:g.38906573G>C						RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site								77	11419	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37			.	.	.	.	.	.	.	.	.	.	G	17.03	3.285117	0.59867	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6771	0.95939	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	39014551	1.000000	0.71417	0.992000	0.48379	0.734000	0.41952	9.568000	0.98166	2.732000	0.93576	0.655000	0.94253	.		0.348	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	Intron	10	24	0	0	0	1	0	10	24				
CTAGE9	643854	broad.mit.edu	37	6	132032088	132032088	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:132032088C>T	ENST00000314099.8	-	1	118	c.70G>A	c.(70-72)Gca>Aca	p.A24T	ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000358229.5_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	24						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						GGTAGTGCTGCCACAACTCTG	0.547																																						ENST00000314099.8																			0				endometrium(1)|lung(1)	2						c.(70-72)Gca>Aca		CTAGE family, member 9							118.0	209.0	187.0					6																	132032088		487	1575	2062	SO:0001583	missense	643854					integral to membrane		g.chr6:132032088C>T		CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.70G>A	6.37:g.132032088C>T	ENSP00000395587:p.Ala24Thr					ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron	p.A24T	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN			1	118	-			24						Missense_Mutation	SNP	ENST00000314099.8	37	c.70G>A	CCDS47475.1	.	.	.	.	.	.	.	.	.	.	-	11.48	1.652388	0.29336	.	.	ENSG00000236761	ENST00000314099	T	0.64438	-0.1	.	.	.	.	.	.	.	.	T	0.68183	0.2973	M	0.84846	2.72	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.55315	-0.8160	7	0.51188	T	0.08	.	.	.	.	.	24	A4FU28	CTGE9_HUMAN	T	24	ENSP00000395587:A24T	ENSP00000395587:A24T	A	-	1	0	CTAGE9	132073781	1.000000	0.71417	0.012000	0.15200	0.000000	0.00434	0.592000	0.23984	0.497000	0.27926	0.000000	0.15137	GCA		0.547	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109220.1	NM_001145659		20	19	0	0	0	1	0	20	19				
KIDINS220	57498	broad.mit.edu	37	2	8919829	8919829	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:8919829T>C	ENST00000256707.3	-	18	2526	c.2345A>G	c.(2344-2346)gAc>gGc	p.D782G	KIDINS220_ENST00000319688.5_Missense_Mutation_p.D783G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D740G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	782	KAP NTPase.				activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AAGGACTTTGTCCTGCTCACA	0.463																																						ENST00000256707.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(2344-2346)gAc>gGc		kinase D-interacting substrate, 220kDa							92.0	90.0	91.0					2																	8919829		1996	4164	6160	SO:0001583	missense	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8919829T>C	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.2345A>G	2.37:g.8919829T>C	ENSP00000256707:p.Asp782Gly					KIDINS220_ENST00000319688.5_Missense_Mutation_p.D783G|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D782G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D740G	p.D782G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN			18	2526	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		782			KAP NTPase.		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	37	c.2345A>G	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028565	0.93518	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.41	5.41	0.78517	KAP P-loop (1);	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.998;0.999;1.0	T	0.61739	-0.7001	10	0.87932	D	0	.	15.7395	0.77882	0.0:0.0:0.0:1.0	.	783;783;740;782	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	G	529;466;782;782;740;782;783;783	ENSP00000420364:D529G;ENSP00000256707:D782G;ENSP00000411849:D782G;ENSP00000414923:D740G;ENSP00000418974:D782G;ENSP00000419964:D783G;ENSP00000319947:D783G	ENSP00000256707:D782G	D	-	2	0	KIDINS220	8837280	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.948000	0.87774	2.165000	0.68154	0.533000	0.62120	GAC		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738		18	37	0	0	0	1	0	18	37				
LINC00969	440993	broad.mit.edu	37	3	195384951	195384951	+	lincRNA	SNP	C	C	T	rs540193447		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:195384951C>T	ENST00000445430.1	+	0	4				AC069513.4_ENST00000423600.1_lincRNA					long intergenic non-protein coding RNA 969																		CGGGACTGCGCGGCGGCGACT	0.751													.|||	1	0.000199681	0.0	0.0	5008	,	,		11205	0.001		0.0	False		,,,				2504	0.0					ENST00000445430.1																			0																																																			440993							g.chr3:195384951C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195384951C>T														0	4	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.751	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	15	0	0	0	1	0	4	15				
KCNG4	93107	broad.mit.edu	37	16	84255844	84255844	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:84255844G>A	ENST00000308251.4	-	3	1607	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	513					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						TGATAGGCAAGGCTGGGCCCT	0.542																																						ENST00000308251.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						c.(1537-1539)gcC>gcT		potassium voltage-gated channel, subfamily G, member 4							205.0	199.0	201.0					16																	84255844		2200	4300	6500	SO:0001819	synonymous_variant	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84255844G>A	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1539C>T	16.37:g.84255844G>A							p.A513A	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN			3	1607	-			513					Q96H24	Silent	SNP	ENST00000308251.4	37	c.1539C>T	CCDS10945.1																																																																																				0.542	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		77	215	0	0	0	1	0	77	215				
MOB2	81532	broad.mit.edu	37	11	1491488	1491488	+	Missense_Mutation	SNP	C	C	T	rs374161883	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1491488C>T	ENST00000329957.6	-	5	910	c.721G>A	c.(721-723)Ggg>Agg	p.G241R	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	210					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CCGCCGGCCCCGCTGCATAGC	0.677													C|||	22	0.00439297	0.0	0.0	5008	,	,		11893	0.0		0.0	False		,,,				2504	0.0225					ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(721-723)Ggg>Agg		MOB kinase activator 2							47.0	48.0	48.0					11																	1491488		1886	4102	5988	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1491488C>T		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.721G>A	11.37:g.1491488C>T	ENSP00000328694:p.Gly241Arg					MOB2_ENST00000526462.1_5'UTR	p.G241R	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			5	910	-			210					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.721G>A	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.198834	0.38806	.	.	ENSG00000182208	ENST00000329957	.	.	.	3.96	-3.72	0.04411	.	1.393690	0.04655	N	0.407935	T	0.17831	0.0428	N	0.14661	0.345	0.09310	N	1	P;P	0.38420	0.63;0.63	B;B	0.27608	0.081;0.036	T	0.15694	-1.0428	9	0.18276	T	0.48	-6.0059	12.1588	0.54093	0.0:0.3473:0.0:0.6527	.	241;210	E9PDA5;Q70IA6	.;MOB2_HUMAN	R	241	.	ENSP00000328694:G241R	G	-	1	0	AC091196.1	1448064	0.369000	0.25039	0.000000	0.03702	0.258000	0.26162	0.026000	0.13599	-1.003000	0.03425	0.563000	0.77884	GGG		0.677	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		4	100	0	0	0	1	0	4	100				
NBAS	51594	broad.mit.edu	37	2	15555748	15555748	+	Silent	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:15555748T>C	ENST00000281513.5	-	25	2884	c.2859A>G	c.(2857-2859)ctA>ctG	p.L953L	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	953					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ATTCTTTTAATAGCTCATTAG	0.378																																						ENST00000281513.5																			0				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						c.(2857-2859)ctA>ctG		neuroblastoma amplified sequence							72.0	77.0	75.0					2																	15555748		2203	4300	6503	SO:0001819	synonymous_variant	51594							g.chr2:15555748T>C	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.2859A>G	2.37:g.15555748T>C						NBAS_ENST00000441750.1_Intron	p.L953L	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN			25	2884	-			953					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Silent	SNP	ENST00000281513.5	37	c.2859A>G	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	T	8.047	0.765128	0.15914	.	.	ENSG00000151779	ENST00000429842	.	.	.	6.16	-5.5	0.02576	.	.	.	.	.	T	0.46268	0.1384	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46317	-0.9200	4	.	.	.	.	5.4254	0.16423	0.1478:0.4705:0.083:0.2987	.	.	.	.	V	51	.	.	I	-	1	0	NBAS	15473199	0.001000	0.12720	0.006000	0.13384	0.932000	0.56968	-1.604000	0.02076	-0.881000	0.03992	-0.280000	0.10049	ATT		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		20	71	0	0	0	1	0	20	71				
RORA	6095	broad.mit.edu	37	15	60794985	60794985	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:60794985G>A	ENST00000335670.6	-	8	1257	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.A411V|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Missense_Mutation_p.A419V|RORA_ENST00000449337.2_Missense_Mutation_p.A331V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	386	Ligand-binding.				angiogenesis (GO:0001525)|cellular response to hypoxia (GO:0071456)|cellular response to sterol (GO:0036315)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|muscle cell differentiation (GO:0042692)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of cholesterol homeostasis (GO:2000188)|regulation of glucose metabolic process (GO:0010906)|regulation of macrophage activation (GO:0043030)|regulation of smoothened signaling pathway (GO:0008589)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|regulation of transcription, DNA-templated (GO:0006355)|T-helper 17 cell differentiation (GO:0072539)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator binding (GO:0001223)|transcription corepressor binding (GO:0001222)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GTCGGGGCTGGCATACTTCCC	0.473																																						ENST00000335670.6																			0				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						c.(1156-1158)gCc>gTc		RAR-related orphan receptor A							274.0	267.0	269.0					15																	60794985		2203	4300	6503	SO:0001583	missense	6095				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr15:60794985G>A	U04897	CCDS10177.1, CCDS10178.1, CCDS10179.1, CCDS45271.1	15q21-q22	2013-01-16			ENSG00000069667	ENSG00000069667		"""Nuclear hormone receptors"""	10258	protein-coding gene	gene with protein product		600825				7926749	Standard	NM_134261		Approved	RZRA, ROR1, ROR2, ROR3, NR1F1	uc002agv.3	P35398	OTTHUMG00000132769	ENST00000335670.6:c.1157C>T	15.37:g.60794985G>A	ENSP00000335087:p.Ala386Val					RP11-219B17.1_ENST00000559824.1_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RORA_ENST00000449337.2_Missense_Mutation_p.A331V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000309157.4_Missense_Mutation_p.A411V|RORA_ENST00000261523.5_Missense_Mutation_p.A419V	p.A386V	NM_134261.2	NP_599023.1	P35398	RORA_HUMAN			8	1257	-			419			Ligand-binding.		P35397|P35399|P45445|Q495X4|Q96H83	Missense_Mutation	SNP	ENST00000335670.6	37	c.1157C>T	CCDS10177.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781896	0.70222	.	.	ENSG00000069667	ENST00000335670;ENST00000449337;ENST00000309157;ENST00000261523	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.96796	0.8954	L	0.42581	1.335	0.80722	D	1	D;P;D;P	0.89917	0.993;0.909;1.0;0.926	P;B;D;B	0.73380	0.646;0.202;0.98;0.234	D	0.94346	0.7575	10	0.11485	T	0.65	.	19.7739	0.96383	0.0:0.0:1.0:0.0	.	386;411;419;331	P35398-2;P35398-3;P35398;P35398-4	.;.;RORA_HUMAN;.	V	386;331;411;419	ENSP00000335087:A386V;ENSP00000402971:A331V;ENSP00000309753:A411V;ENSP00000261523:A419V	ENSP00000261523:A419V	A	-	2	0	RORA	58582277	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.823000	0.86660	2.744000	0.94065	0.655000	0.94253	GCC		0.473	RORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256142.2			5	445	0	0	0	1	0	5	445				
SRRM2	23524	broad.mit.edu	37	16	2819133	2819133	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819133C>T	ENST00000301740.8	+	12	8418	c.7869C>T	c.(7867-7869)tcC>tcT	p.S2623S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2623	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcctcctcctcctctt	0.587																																						ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7867-7869)tcC>tcT		serine/arginine repetitive matrix 2							146.0	123.0	131.0					16																	2819133		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819133C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7869C>T	16.37:g.2819133C>T						SRRM2_ENST00000574593.1_3'UTR	p.S2623S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8418	+			2623			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.7869C>T	CCDS32373.1																																																																																				0.587	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			6	65	0	0	0	1	0	6	65				
WDR75	84128	broad.mit.edu	37	2	190332307	190332307	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332307G>A	ENST00000314761.4	+	14	1621	c.1561G>A	c.(1561-1563)Gtc>Atc	p.V521I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	521						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGAGGAAATAGTCACAATATG	0.378																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.(1561-1563)Gtc>Atc		WD repeat domain 75							144.0	138.0	140.0					2																	190332307		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190332307G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1561G>A	2.37:g.190332307G>A	ENSP00000314193:p.Val521Ile						p.V521I	NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		14	1621	+			521					Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1561G>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.169090	0.38315	.	.	ENSG00000115368	ENST00000314761	T	0.04654	3.58	5.86	4.04	0.47022	WD40/YVTN repeat-like-containing domain (1);	0.235784	0.44097	N	0.000486	T	0.03011	0.0089	N	0.14661	0.345	0.46317	D	0.998982	B;B	0.30542	0.284;0.073	B;B	0.25291	0.059;0.026	T	0.56523	-0.7965	10	0.22706	T	0.39	-17.3644	10.8515	0.46773	0.2012:0.0:0.7988:0.0	.	521;521	A8K330;Q8IWA0	.;WDR75_HUMAN	I	521	ENSP00000314193:V521I	ENSP00000314193:V521I	V	+	1	0	WDR75	190040552	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	3.882000	0.56160	1.626000	0.50381	0.650000	0.86243	GTC		0.378	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		35	92	0	0	0	1	0	35	92				
PHRF1	57661	broad.mit.edu	37	11	607619	607619	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:607619G>A	ENST00000264555.5	+	14	2291	c.2163G>A	c.(2161-2163)ggG>ggA	p.G721G	PHRF1_ENST00000413872.2_Silent_p.G719G|PHRF1_ENST00000416188.2_Silent_p.G720G|PHRF1_ENST00000533464.1_Silent_p.G717G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	721					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AGGGCACCGGGCAGCCAGGGC	0.736																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(2161-2163)ggG>ggA		PHD and ring finger domains 1							24.0	29.0	27.0					11																	607619		2045	4184	6229	SO:0001819	synonymous_variant	57661						RNA polymerase binding|zinc ion binding	g.chr11:607619G>A	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2163G>A	11.37:g.607619G>A						PHRF1_ENST00000413872.2_Silent_p.G719G|PHRF1_ENST00000533464.1_Silent_p.G717G|PHRF1_ENST00000416188.2_Silent_p.G720G	p.G721G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	2291	+			721					A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Silent	SNP	ENST00000264555.5	37	c.2163G>A																																																																																					0.736	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		4	94	0	0	0	1	0	4	94				
RNF213	57674	broad.mit.edu	37	17	78319809	78319809	+	Silent	SNP	C	C	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:78319809C>G	ENST00000582970.1	+	29	7817	c.7674C>G	c.(7672-7674)tcC>tcG	p.S2558S	RNF213_ENST00000336301.6_Silent_p.S631S|RNF213_ENST00000508628.2_Silent_p.S2607S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2558					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGCTGGGCTCCATTCCTCTGA	0.567																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(7672-7674)tcC>tcG		ring finger protein 213							55.0	52.0	53.0					17																	78319809		2203	4300	6503	SO:0001819	synonymous_variant	57674							g.chr17:78319809C>G	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7674C>G	17.37:g.78319809C>G						RNF213_ENST00000508628.2_Silent_p.S2607S|RNF213_ENST00000336301.6_Silent_p.S631S	p.S2558S	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		29	7817	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	c.7674C>G	CCDS58606.1																																																																																				0.567	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		26	67	0	0	0	1	0	26	67				
TTN	7273	broad.mit.edu	37	2	179410814	179410814	+	Missense_Mutation	SNP	C	C	T	rs150930737		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:179410814C>T	ENST00000591111.1	-	293	90450	c.90226G>A	c.(90226-90228)Gtc>Atc	p.V30076I	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22652I|TTN_ENST00000342992.6_Missense_Mutation_p.V29149I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22777I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V31717I|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V22844I|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30076	Fibronectin type-III 119. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTGCTGACGGTGAGCTTT	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21875	0.0		0.0	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(95149-95151)Gtc>Atc		titin							67.0	67.0	67.0					2																	179410814		1998	4166	6164	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179410814C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90226G>A	2.37:g.179410814C>T	ENSP00000465570:p.Val30076Ile					TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29149I|TTN_ENST00000342175.6_Missense_Mutation_p.V22844I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V30076I|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V22652I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22777I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.V31717I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		343	95373	-			30076			Fibronectin type-III 130.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.95149G>A		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	11.76	1.736021	0.30774	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.82	1.58	0.23477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.42630	0.1211	N	0.26092	0.79	0.80722	D	1	B;B;B;B	0.10296	0.003;0.003;0.003;0.003	B;B;B;B	0.09377	0.004;0.004;0.004;0.004	T	0.34576	-0.9823	9	0.87932	D	0	.	10.3643	0.44015	0.0:0.5879:0.0:0.4121	.	22652;22777;22844;30076	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	29149;22652;22844;22777;22649	ENSP00000343764:V29149I;ENSP00000434586:V22652I;ENSP00000340554:V22844I;ENSP00000352154:V22777I	ENSP00000340554:V22844I	V	-	1	0	TTN	179119060	0.657000	0.27393	0.859000	0.33776	0.920000	0.55202	1.132000	0.31418	0.405000	0.25532	-0.983000	0.02560	GTC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		28	45	0	0	0	1	0	28	45				
ROBO3	64221	broad.mit.edu	37	11	124746185	124746185	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:124746185C>A	ENST00000397801.1	+	17	2800	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	ROBO3_ENST00000538940.1_Missense_Mutation_p.L848M|ROBO3_ENST00000543966.1_5'Flank	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	870					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CCCGCCGGACCTGGAGCCCGG	0.746											OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(2608-2610)Ctg>Atg		roundabout, axon guidance receptor, homolog 3 (Drosophila)							6.0	5.0	5.0					11																	124746185		1468	3341	4809	SO:0001583	missense	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124746185C>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.2608C>A	11.37:g.124746185C>A	ENSP00000380903:p.Leu870Met		OREG0021467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1536	ROBO3_ENST00000538940.1_Missense_Mutation_p.L848M	p.L870M	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	17	2800	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	870						Missense_Mutation	SNP	ENST00000397801.1	37	c.2608C>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	C	7.764	0.706075	0.15172	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.64618	-0.11;-0.1	4.88	-6.1	0.02138	.	3.939340	0.00969	N	0.003205	T	0.39600	0.1084	N	0.08118	0	0.19300	N	0.999976	B	0.14438	0.01	B	0.17098	0.017	T	0.33777	-0.9855	10	0.48119	T	0.1	.	7.3222	0.26533	0.0:0.2352:0.4633:0.3015	.	870	Q96MS0	ROBO3_HUMAN	M	870;848	ENSP00000380903:L870M;ENSP00000441797:L848M	ENSP00000380903:L870M	L	+	1	2	ROBO3	124251395	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.988000	0.01482	-1.293000	0.02362	-0.997000	0.02515	CTG		0.746	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	12	1	0	1	1	1	3	12				
KCNQ3	3786	broad.mit.edu	37	8	133196524	133196524	+	Silent	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:133196524G>T	ENST00000388996.4	-	3	988	c.568C>A	c.(568-570)Cga>Aga	p.R190R	KCNQ3_ENST00000519445.1_Silent_p.R190R|KCNQ3_ENST00000521134.1_Silent_p.R70R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	190					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.R190*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AACTTCAGTCGGCCCCGCCAG	0.537																																						ENST00000388996.4																			1	Substitution - Nonsense(1)	p.R190*(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(568-570)Cga>Aga		potassium voltage-gated channel, KQT-like subfamily, member 3							84.0	86.0	86.0					8																	133196524		2203	4300	6503	SO:0001819	synonymous_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133196524G>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.568C>A	8.37:g.133196524G>T						KCNQ3_ENST00000521134.1_Silent_p.R70R|KCNQ3_ENST00000519445.1_Silent_p.R190R	p.R190R	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		3	988	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		190					A2VCT8|B4DJY4|E7EQ89	Silent	SNP	ENST00000388996.4	37	c.568C>A	CCDS34943.1																																																																																				0.537	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		45	111	1	0	4.67007e-22	1	5.88214e-22	45	111				
MCF2	4168	broad.mit.edu	37	X	138689864	138689864	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:138689864C>T	ENST00000370576.4	-	12	1685	c.1476G>A	c.(1474-1476)ttG>ttA	p.L492L	MCF2_ENST00000370578.4_Silent_p.L637L|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Silent_p.L453L|MCF2_ENST00000520602.1_Silent_p.L552L|MCF2_ENST00000414978.1_Silent_p.L552L|MCF2_ENST00000338585.6_Silent_p.L508L|MCF2_ENST00000519895.1_Silent_p.L568L|MCF2_ENST00000370573.4_Silent_p.L492L	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	492					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTAAAACATCCAAGCTATTGC	0.358																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1654-1656)ttG>ttA		MCF.2 cell line derived transforming sequence							57.0	51.0	53.0					X																	138689864		2203	4300	6503	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138689864C>T		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1476G>A	X.37:g.138689864C>T						MCF2_ENST00000370576.4_Silent_p.L492L|MCF2_ENST00000414978.1_Silent_p.L552L|MCF2_ENST00000338585.6_Silent_p.L508L|MCF2_ENST00000370578.4_Silent_p.L637L|MCF2_ENST00000370573.4_Silent_p.L492L|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Silent_p.L453L|MCF2_ENST00000519895.1_Silent_p.L568L	p.L552L			P10911	MCF2_HUMAN			15	1941	-	Acute lymphoblastic leukemia(192;0.000127)		492			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.1656G>A	CCDS14667.1																																																																																				0.358	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		27	14	0	0	0	1	0	27	14				
NLRP11	204801	broad.mit.edu	37	19	56303838	56303838	+	Splice_Site	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:56303838C>A	ENST00000589093.1	-	7	2436		c.e7-1		NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site|NLRP11_ENST00000443188.1_Splice_Site|NLRP11_ENST00000589824.2_Splice_Site			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11								ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAGACTAACCTGCACACAGA	0.557																																						ENST00000443188.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66						c.e9-1		NLR family, pyrin domain containing 11							78.0	73.0	75.0					19																	56303838		2203	4300	6503	SO:0001630	splice_region_variant	204801						ATP binding	g.chr19:56303838C>A	AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2343-1G>T	19.37:g.56303838C>A						NLRP11_ENST00000589824.2_Splice_Site|NLRP11_ENST00000589093.1_Splice_Site|NLRP11_ENST00000360133.3_Splice_Site|NLRP11_ENST00000592953.1_Splice_Site		NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	9	3053	-		Colorectal(82;0.0002)						C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Splice_Site	SNP	ENST00000589093.1	37		CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	8.102	0.776960	0.16120	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	2.26	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.35125	D	0.767446	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0732	0.30701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRP11	60995650	0.043000	0.20138	0.067000	0.19924	0.040000	0.13550	1.674000	0.37544	1.563000	0.49615	0.650000	0.86243	.		0.557	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	Intron	35	68	1	0	1.06647e-15	1	1.29388e-15	35	68				
NTMT1	28989	broad.mit.edu	37	9	132397618	132397618	+	Missense_Mutation	SNP	G	G	A	rs374533917		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:132397618G>A	ENST00000372486.1	+	4	896	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.V183M|NTMT1_ENST00000372483.4_Missense_Mutation_p.V183M|NTMT1_ENST00000482347.1_Missense_Mutation_p.V95M			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1	183					chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GGACAGCAGCGTGTGCCGGGA	0.637																																						ENST00000372486.1																			0											c.(547-549)Gtg>Atg		N-terminal Xaa-Pro-Lys N-methyltransferase 1		G	,MET/VAL,,	1,4405	2.1+/-5.4	0,1,2202	128.0	105.0	113.0		,547,,	5.0	1.0	9		113	0,8600		0,0,4300	no	utr-3,missense,utr-3,utr-3	METTL11A,ASB6	NM_001202403.1,NM_014064.2,NM_017873.3,NM_177999.2	,21,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,probably-damaging,,	,183/224,,	132397618	1,13005	2203	4300	6503	SO:0001583	missense	28989							g.chr9:132397618G>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.547G>A	9.37:g.132397618G>A	ENSP00000361564:p.Val183Met					NTMT1_ENST00000372481.3_3'UTR|NTMT1_ENST00000372480.1_Missense_Mutation_p.V183M|NTMT1_ENST00000372483.4_Missense_Mutation_p.V183M|NTMT1_ENST00000482347.1_Missense_Mutation_p.V95M	p.V183M							4	896	+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Missense_Mutation	SNP	ENST00000372486.1	37	c.547G>A	CCDS35160.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358204	0.82243	2.27E-4	0.0	ENSG00000148335	ENST00000372486;ENST00000372483;ENST00000372480	T;T;T	0.27402	1.67;1.67;1.67	5.01	5.01	0.66863	.	0.143577	0.46145	D	0.000312	T	0.53367	0.1792	M	0.81341	2.54	0.53005	D	0.999968	D	0.76494	0.999	D	0.67900	0.954	T	0.57046	-0.7878	10	0.56958	D	0.05	-8.8843	10.5408	0.45031	0.09:0.0:0.91:0.0	.	183	Q9BV86	NTM1A_HUMAN	M	183	ENSP00000361564:V183M;ENSP00000361561:V183M;ENSP00000361558:V183M	ENSP00000361558:V183M	V	+	1	0	METTL11A	131437439	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	6.370000	0.73114	2.325000	0.78763	0.549000	0.68633	GTG		0.637	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064		4	147	0	0	0	1	0	4	147				
PSG6	5675	broad.mit.edu	37	19	43411907	43411907	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:43411907G>A	ENST00000292125.2	-	4	850	c.806C>T	c.(805-807)aCc>aTc	p.T269I	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000187910.2_Missense_Mutation_p.T269I	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	269	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCAAATGTAGGTGTAGTTCCG	0.493																																						ENST00000187910.2																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						c.(805-807)aCc>aTc		pregnancy specific beta-1-glycoprotein 6							304.0	287.0	293.0					19																	43411907		2201	4299	6500	SO:0001583	missense	5675							g.chr19:43411907G>A		CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.806C>T	19.37:g.43411907G>A	ENSP00000292125:p.Thr269Ile					PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.T269I	p.T269I	NM_001031850.3	NP_001027020.1					4	871	-		Prostate(69;0.00899)						O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	ENST00000292125.2	37	c.806C>T	CCDS12613.1	.	.	.	.	.	.	.	.	.	.	N	5.225	0.226965	0.09916	.	.	ENSG00000170848	ENST00000187910;ENST00000292125	T;T	0.12879	2.64;2.64	1.42	0.255	0.15561	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28797	0.0714	M	0.81682	2.555	0.09310	N	1	D;B	0.60575	0.988;0.452	P;B	0.60886	0.88;0.388	T	0.10823	-1.0613	9	0.87932	D	0	.	3.8173	0.08821	0.263:0.0:0.737:0.0	.	269;269	Q00889;Q00889-2	PSG6_HUMAN;.	I	269	ENSP00000187910:T269I;ENSP00000292125:T269I	ENSP00000187910:T269I	T	-	2	0	PSG6	48103747	0.000000	0.05858	0.001000	0.08648	0.086000	0.17979	-0.437000	0.06914	-0.031000	0.13781	0.134000	0.15878	ACC		0.493	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321436.1	NM_002782		108	290	0	0	0	1	0	108	290				
TCP10L2	401285	broad.mit.edu	37	6	167592605	167592605	+	Missense_Mutation	SNP	T	T	G	rs200932131	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592605T>G	ENST00000366832.2	+	6	895	c.764T>G	c.(763-765)gTt>gGt	p.V255G		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						GCAGCCGGAGTTGCTGGTGAG	0.582																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(763-765)gTt>gGt		t-complex 10-like 2																																				SO:0001583	missense	401285							g.chr6:167592605T>G		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.764T>G	6.37:g.167592605T>G	ENSP00000355797:p.Val255Gly						p.V255G	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	895	+			255						Missense_Mutation	SNP	ENST00000366832.2	37	c.764T>G	CCDS47514.1	.	.	.	.	.	.	.	.	.	.	N	0.018	-1.471236	0.01044	.	.	ENSG00000166984	ENST00000366832	T	0.21031	2.03	.	.	.	.	.	.	.	.	T	0.01254	0.0041	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41662	-0.9496	7	0.33141	T	0.24	.	.	.	.	.	255	B9ZVM9	TCP2L_HUMAN	G	255	ENSP00000355797:V255G	ENSP00000283507:V255G	V	+	2	0	TCP10L2	167512595	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	-0.587000	0.05780	-1.946000	0.01035	-2.069000	0.00389	GTT		0.582	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		5	21	0	0	0	1	0	5	21				
IMMT	10989	broad.mit.edu	37	2	86408456	86408456	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:86408456G>T	ENST00000410111.3	-	2	472	c.85C>A	c.(85-87)Cca>Aca	p.P29T	IMMT_ENST00000409051.2_Missense_Mutation_p.P29T|IMMT_ENST00000442664.2_Missense_Mutation_p.P29T|IMMT_ENST00000449247.2_Missense_Mutation_p.P29T|IMMT_ENST00000254636.5_5'UTR	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	MIC60_HUMAN	inner membrane protein, mitochondrial	29					mitochondrial calcium ion homeostasis (GO:0051560)|response to cold (GO:0009409)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCGGCATGGTCGCAATGGA	0.453																																						ENST00000410111.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(85-87)Cca>Aca		inner membrane protein, mitochondrial							74.0	73.0	73.0					2																	86408456		1933	4134	6067	SO:0001583	missense	10989					integral to mitochondrial inner membrane	protein binding	g.chr2:86408456G>T	D21094	CCDS46355.1, CCDS46356.1, CCDS46357.1	2p11.2	2011-10-04	2010-04-29		ENSG00000132305	ENSG00000132305			6047	protein-coding gene	gene with protein product	"""mitofilin"", ""mitochondrial inner membrane organizing system 2"""	600378	"""inner membrane protein, mitochondrial (mitofilin)"""			9168817, 8039717	Standard	NM_001100169		Approved	P87, P89, HMP, MINOS2	uc002sqz.4	Q16891	OTTHUMG00000153170	ENST00000410111.3:c.85C>A	2.37:g.86408456G>T	ENSP00000387262:p.Pro29Thr					IMMT_ENST00000442664.2_Missense_Mutation_p.P29T|IMMT_ENST00000409051.2_Missense_Mutation_p.P29T|IMMT_ENST00000449247.2_Missense_Mutation_p.P29T|IMMT_ENST00000254636.5_5'UTR	p.P29T	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN			2	472	-			29					B1H0U5|B2R5N6|Q14539|Q15092|Q68D41|Q69HW5|Q6IBL0|Q7Z3X1|Q8TAJ5|Q9P0V2	Missense_Mutation	SNP	ENST00000410111.3	37	c.85C>A	CCDS46355.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.340554	0.41498	.	.	ENSG00000132305	ENST00000449247;ENST00000410111;ENST00000442664;ENST00000409051;ENST00000545283;ENST00000377310;ENST00000398211;ENST00000409715	T;T;T;T	0.32988	1.43;1.43;1.43;1.46	5.55	4.68	0.58851	.	0.294245	0.37012	N	0.002287	T	0.36193	0.0958	N	0.19112	0.55	0.25742	N	0.985143	B;B;B;D;B;B;B;B;B	0.89917	0.046;0.111;0.027;1.0;0.402;0.082;0.046;0.082;0.027	B;B;B;D;B;B;B;B;B	0.87578	0.086;0.056;0.04;0.998;0.074;0.086;0.086;0.086;0.04	T	0.12863	-1.0531	10	0.33141	T	0.24	-6.7545	9.6672	0.39992	0.0751:0.1413:0.7836:0.0	.	29;29;29;29;29;29;29;29;29	F5GZ32;B9A067;B4DKR1;Q05DN3;B4E2B5;F8W9I1;Q16891-2;Q16891-3;Q16891	.;.;.;.;.;.;.;.;IMMT_HUMAN	T	29	ENSP00000396899:P29T;ENSP00000387262:P29T;ENSP00000407788:P29T;ENSP00000387227:P29T	ENSP00000366526:P29T	P	-	1	0	IMMT	86261967	0.999000	0.42202	1.000000	0.80357	0.856000	0.48823	2.432000	0.44784	1.347000	0.45714	0.655000	0.94253	CCA		0.453	IMMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329909.2	NM_006839		11	30	1	0	4.36969e-10	1	4.93835e-10	11	30				
SFI1	9814	broad.mit.edu	37	22	31904325	31904325	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:31904325G>A	ENST00000400288.2	+	2	160	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	SFI1_ENST00000400289.1_Missense_Mutation_p.V19M|SFI1_ENST00000414585.1_Missense_Mutation_p.V19M|SFI1_ENST00000443011.1_Missense_Mutation_p.V19M|SFI1_ENST00000432498.1_Missense_Mutation_p.V19M|SFI1_ENST00000443326.1_Missense_Mutation_p.V19M|SFI1_ENST00000540643.1_Missense_Mutation_p.V19M	NM_001007467.2	NP_001007468.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	19					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCATCAAAAAGTGATTAAGCA	0.343																																						ENST00000432498.1																			0				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						c.(55-57)Gtg>Atg		Sfi1 homolog, spindle assembly associated (yeast)							92.0	86.0	88.0					22																	31904325		1851	4107	5958	SO:0001583	missense	9814				G2/M transition of mitotic cell cycle	centriole|cytosol		g.chr22:31904325G>A	AB011114	CCDS43004.1, CCDS43005.1, CCDS58803.1, CCDS58804.1	22q12.2	2014-06-13			ENSG00000198089	ENSG00000198089			29064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 139"""	612765				14504268	Standard	NM_001007467		Approved	KIAA0542, PISD, PPP1R139	uc003ale.4	A8K8P3	OTTHUMG00000030249	ENST00000400288.2:c.55G>A	22.37:g.31904325G>A	ENSP00000383145:p.Val19Met					SFI1_ENST00000443326.1_Missense_Mutation_p.V19M|SFI1_ENST00000540643.1_Missense_Mutation_p.V19M|SFI1_ENST00000414585.1_Missense_Mutation_p.V19M|SFI1_ENST00000400288.2_Missense_Mutation_p.V19M|SFI1_ENST00000400289.1_Missense_Mutation_p.V19M|SFI1_ENST00000443011.1_Missense_Mutation_p.V19M	p.V19M	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN			2	448	+			19					A1L373|A1L387|A2A2L2|B1AKL9|B5MDB7|B7Z1V6|B7Z8G3|B7ZBE2|B7ZBE3|O60289|Q2TAN8|Q5W1B5|Q86TK0|Q8N4U8|Q8N8C1|Q8WU14	Missense_Mutation	SNP	ENST00000400288.2	37	c.55G>A	CCDS43004.1	.	.	.	.	.	.	.	.	.	.	G	6.161	0.397936	0.11696	.	.	ENSG00000198089	ENST00000432498;ENST00000540643;ENST00000443326;ENST00000421060;ENST00000414585;ENST00000443011;ENST00000400289;ENST00000444859;ENST00000400288	T;T;T;T;T;T;T;T	0.35421	2.99;2.92;2.78;2.74;2.77;2.78;1.31;3.0	3.83	-3.44	0.04796	.	.	.	.	.	T	0.25606	0.0623	N	0.08118	0	0.09310	N	1	B;P;D;B;B;B	0.59767	0.001;0.729;0.986;0.001;0.001;0.001	B;B;P;B;B;B	0.56788	0.001;0.209;0.806;0.001;0.001;0.002	T	0.17258	-1.0375	9	0.46703	T	0.11	.	5.0067	0.14291	0.4813:0.1569:0.3618:0.0	.	19;19;19;19;19;19	A8K8P3-9;A8K8P3-10;A8K8P3-3;A8K8P3-2;A8K8P3;A8K8P3-5	.;.;.;.;SFI1_HUMAN;.	M	19	ENSP00000402679:V19M;ENSP00000443025:V19M;ENSP00000416469:V19M;ENSP00000397148:V19M;ENSP00000401199:V19M;ENSP00000383146:V19M;ENSP00000411793:V19M;ENSP00000383145:V19M	ENSP00000383145:V19M	V	+	1	0	SFI1	30234325	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-0.654000	0.05354	-0.548000	0.06199	-0.224000	0.12420	GTG		0.343	SFI1-023	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337180.3	NM_014775		11	38	0	0	0	1	0	11	38				
RILPL1	353116	broad.mit.edu	37	12	123984019	123984019	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:123984019G>A	ENST00000376874.4	-	3	760	c.525C>T	c.(523-525)gaC>gaT	p.D175D	RILPL1_ENST00000340724.6_Silent_p.D23D	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	175					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		CGCGGATCTCGTCGCGTTGTT	0.622																																						ENST00000376874.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7						c.(523-525)gaC>gaT		Rab interacting lysosomal protein-like 1							152.0	167.0	162.0					12																	123984019		2153	4247	6400	SO:0001819	synonymous_variant	353116				neuroprotection	cytosol		g.chr12:123984019G>A	AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.525C>T	12.37:g.123984019G>A						RILPL1_ENST00000340724.6_Silent_p.D23D	p.D175D	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)	3	760	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		175					Q66K36|Q8N1M0	Silent	SNP	ENST00000376874.4	37	c.525C>T	CCDS45006.1																																																																																				0.622	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400595.1	NM_178314		24	73	0	0	0	1	0	24	73				
APOBEC3B	9582	broad.mit.edu	37	22	39387545	39387545	+	Missense_Mutation	SNP	G	G	A	rs377377948	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:39387545G>A	ENST00000333467.3	+	6	977	c.932G>A	c.(931-933)cGc>cAc	p.R311H	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R286H|APOBEC3B-AS1_ENST00000513758.2_RNA|APOBEC3B_ENST00000402182.3_Missense_Mutation_p.R311H	NM_001270411.1|NM_004900.4	NP_001257340.1|NP_004891	Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	311					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|negative regulation of transposition (GO:0010529)	nucleus (GO:0005634)	deoxycytidine deaminase activity (GO:0047844)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TTCGCTGCCCGCATCTATGAT	0.572													G|||	2	0.000399361	0.0	0.0	5008	,	,		15947	0.0		0.0	False		,,,				2504	0.002					ENST00000402182.3																			0				cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13						c.(931-933)cGc>cAc		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B							121.0	118.0	119.0					22																	39387545		2199	4282	6481	SO:0001583	missense	9582				negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	g.chr22:39387545G>A	AK024854	CCDS13982.1, CCDS58807.1	22q13.1-q13.2	2008-05-15			ENSG00000179750	ENSG00000179750		"""Apolipoprotein B mRNA editing enzymes"""	17352	protein-coding gene	gene with protein product	"""phorbolin 3"""	607110				11863358, 10469298	Standard	NM_004900		Approved	PHRBNL, FLJ21201	uc003awo.2	Q9UH17	OTTHUMG00000151085	ENST00000333467.3:c.932G>A	22.37:g.39387545G>A	ENSP00000327459:p.Arg311His					APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R286H|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R311H	p.R311H			Q9UH17	ABC3B_HUMAN			6	987	+	Melanoma(58;0.04)		311					B0QYD2|O95618|Q20WL1|Q5IFJ4|Q7Z2N3|Q7Z6D6|Q9UE74	Missense_Mutation	SNP	ENST00000333467.3	37	c.932G>A	CCDS13982.1	.	.	.	.	.	.	.	.	.	.	.	13.43	2.234495	0.39498	.	.	ENSG00000179750	ENST00000407298;ENST00000402182;ENST00000333467	T;T;T	0.66815	-0.23;-0.23;-0.23	2.0	2.0	0.26442	APOBEC-like, N-terminal (1);Cytidine deaminase-like (1);	.	.	.	.	T	0.77491	0.4138	M	0.91872	3.25	0.21184	N	0.999762	D;P	0.56746	0.977;0.939	P;B	0.50791	0.65;0.283	T	0.68918	-0.5282	9	0.72032	D	0.01	.	9.9933	0.41885	0.0:0.0:1.0:0.0	.	286;311	B0QYD2;Q9UH17	.;ABC3B_HUMAN	H	286;311;311	ENSP00000385068:R286H;ENSP00000385060:R311H;ENSP00000327459:R311H	ENSP00000327459:R311H	R	+	2	0	APOBEC3B	37717491	1.000000	0.71417	0.290000	0.24890	0.086000	0.17979	5.259000	0.65485	1.408000	0.46895	0.407000	0.27541	CGC		0.572	APOBEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321233.1	NM_004900		5	260	0	0	0	1	0	5	260				
CDKN2B-AS1	100048912	broad.mit.edu	37	9	22029502	22029502	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:22029502G>T	ENST00000404796.2	+	5	531	c.418G>T	c.(418-420)Gct>Tct	p.A140S	CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000428597.1_RNA														p.0(1)|p.0?(1)									TGATTCCTCAGCTCCTCTCAT	0.463																																						ENST00000404796.2																			2	Whole gene deletion(2)	p.0(1)|p.0?(1)	lung(2)								c.(418-420)Gct>Tct									297.0	273.0	280.0					9																	22029502		876	1991	2867	SO:0001583	missense	100048912							g.chr9:22029502G>T																												ENST00000404796.2:c.418G>T	9.37:g.22029502G>T	ENSP00000385916:p.Ala140Ser					CDKN2B-AS1_ENST00000582301.1_RNA|CDKN2B-AS1_ENST00000584020.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000583719.1_RNA	p.A140S							5	531	+									Missense_Mutation	SNP	ENST00000404796.2	37	c.418G>T																																																																																					0.463	RP11-145E5.5-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000445913.1			52	104	1	0	3.14146e-11	1	3.62476e-11	52	104				
BAGE2	85319	broad.mit.edu	37	21	11039291	11039291	+	RNA	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr21:11039291G>T	ENST00000470054.1	-	0	912							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GATCTGGTGTGTAACGACTTC	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039291G>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039291G>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	912	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		10	249	1	0	0.0692343	1	0.0700838	10	249				
PLEKHA6	22874	broad.mit.edu	37	1	204236637	204236637	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:204236637G>A	ENST00000272203.3	-	5	562	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PLEKHA6_ENST00000414478.1_Silent_p.F82F	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	82	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.							p.F82L(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CCACCAGGACGAACCAGCGCT	0.587																																						ENST00000272203.3																			1	Substitution - Missense(1)	p.F82L(1)	ovary(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(244-246)ttC>ttT		pleckstrin homology domain containing, family A member 6							115.0	87.0	97.0					1																	204236637		2203	4300	6503	SO:0001819	synonymous_variant	22874							g.chr1:204236637G>A	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.246C>T	1.37:g.204236637G>A						PLEKHA6_ENST00000414478.1_Silent_p.F82F	p.F82F	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		5	562	-	all_cancers(21;0.0222)|Breast(84;0.179)		82			PH.		A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	c.246C>T	CCDS1444.1																																																																																				0.587	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		32	61	0	0	0	1	0	32	61				
ADCY9	115	broad.mit.edu	37	16	4165375	4165375	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:4165375C>T	ENST00000294016.3	-	2	607	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	23					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTTGCTGTCCCCGCTGGAGT	0.642																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(67-69)ggG>ggA		adenylate cyclase 9							79.0	56.0	64.0					16																	4165375		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4165375C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.69G>A	16.37:g.4165375C>T							p.G23G	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			2	607	-			23					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.69G>A	CCDS32382.1																																																																																				0.642	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			8	20	0	0	0	1	0	8	20				
FAT1	2195	broad.mit.edu	37	4	187518853	187518853	+	Silent	SNP	C	C	T	rs538167941	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:187518853C>T	ENST00000441802.2	-	24	12560	c.12351G>A	c.(12349-12351)tcG>tcA	p.S4117S	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4117	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCCTAAAACCCGAATCACACT	0.428										HNSCC(5;0.00058)			C|||	2	0.000399361	0.0008	0.0	5008	,	,		17853	0.001		0.0	False		,,,				2504	0.0				Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(12349-12351)tcG>tcA		FAT atypical cadherin 1							65.0	59.0	61.0					4																	187518853		1898	4131	6029	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187518853C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.12351G>A	4.37:g.187518853C>T		HNSCC(5;0.00058)					p.S4117S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			24	12560	-			4117			EGF-like 4.			Silent	SNP	ENST00000441802.2	37	c.12351G>A	CCDS47177.1																																																																																				0.428	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		4	28	0	0	0	1	0	4	28				
CHD7	55636	broad.mit.edu	37	8	61765846	61765846	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:61765846G>C	ENST00000423902.2	+	31	7041	c.6562G>C	c.(6562-6564)Gag>Cag	p.E2188Q	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2188	Glu-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GGAGAAATGTGAGGGCAAAGA	0.502																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(6562-6564)Gag>Cag		chromodomain helicase DNA binding protein 7							24.0	25.0	25.0					8																	61765846		1949	4137	6086	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61765846G>C	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.6562G>C	8.37:g.61765846G>C	ENSP00000392028:p.Glu2188Gln					CHD7_ENST00000524602.1_Intron	p.E2188Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		31	7041	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2188			Glu-rich.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.6562G>C	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	G	6.085	0.384036	0.11524	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.75477	-0.94	5.3	4.43	0.53597	.	0.477742	0.21446	N	0.074409	T	0.61590	0.2359	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.15870	0.014	T	0.55811	-0.8082	10	0.52906	T	0.07	-1.9549	13.8731	0.63631	0.0734:0.0:0.9266:0.0	.	2188	Q9P2D1	CHD7_HUMAN	Q	2188	ENSP00000392028:E2188Q	ENSP00000307304:E2188Q	E	+	1	0	CHD7	61928400	0.976000	0.34144	0.003000	0.11579	0.116000	0.19942	5.825000	0.69286	1.241000	0.43820	0.655000	0.94253	GAG		0.502	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		11	28	0	0	0	1	0	11	28				
PELI2	57161	broad.mit.edu	37	14	56763458	56763458	+	Silent	SNP	C	C	T	rs148290454	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr14:56763458C>T	ENST00000267460.4	+	6	1123	c.837C>T	c.(835-837)gcC>gcT	p.A279A		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	279					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AGATTAACGCCGCCCGGCCTC	0.572													C|||	7	0.00139776	0.0038	0.0029	5008	,	,		18383	0.0		0.0	False		,,,				2504	0.0					ENST00000267460.4																			0				kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						c.(835-837)gcC>gcT		pellino E3 ubiquitin protein ligase family member 2		C		26,4380	32.6+/-62.9	0,26,2177	45.0	47.0	46.0		837	-10.8	0.0	14	dbSNP_134	46	0,8600		0,0,4300	no	coding-synonymous	PELI2	NM_021255.2		0,26,6477	TT,TC,CC		0.0,0.5901,0.1999		279/421	56763458	26,12980	2203	4300	6503	SO:0001819	synonymous_variant	57161				innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding	g.chr14:56763458C>T	AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.837C>T	14.37:g.56763458C>T							p.A279A	NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN			6	1123	+			279					B2RDY5	Silent	SNP	ENST00000267460.4	37	c.837C>T	CCDS9726.1																																																																																				0.572	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1			21	33	0	0	0	1	0	21	33				
AMELX	265	broad.mit.edu	37	X	11314928	11314928	+	Silent	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:11314928T>C	ENST00000380714.3	+	3	152	c.84T>C	c.(82-84)taT>taC	p.Y28Y	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380712.3_Silent_p.Y28Y|AMELX_ENST00000348912.4_Intron	NM_001142.2	NP_001133.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	28					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|enamel mineralization (GO:0070166)|epithelial to mesenchymal transition (GO:0001837)|ion homeostasis (GO:0050801)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of tooth mineralization (GO:0070172)|signal transduction (GO:0007165)|tooth mineralization (GO:0034505)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|hydroxyapatite binding (GO:0046848)|identical protein binding (GO:0042802)|structural constituent of tooth enamel (GO:0030345)			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ACCCTGGTTATATCAACTTCA	0.433																																						ENST00000380712.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						c.(82-84)taT>taC		amelogenin, X-linked							224.0	185.0	198.0					X																	11314928		2203	4300	6503	SO:0001819	synonymous_variant	265				cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	g.chrX:11314928T>C		CCDS14144.1, CCDS14145.1, CCDS14146.1	Xp22.31-p22.1	2010-04-20	2010-04-20		ENSG00000125363	ENSG00000125363			461	protein-coding gene	gene with protein product	"""amelogenesis imperfecta 1"""	300391	"""amelogenin (X chromosome, amelogenesis imperfecta 1)"""	AMG, AIH1		1734713	Standard	NM_182680		Approved		uc004cus.3	Q99217	OTTHUMG00000021130	ENST00000380714.3:c.84T>C	X.37:g.11314928T>C						AMELX_ENST00000380714.3_Silent_p.Y28Y|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Intron	p.Y28Y	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN			3	152	+			28					Q96NW6|Q9UCA7	Silent	SNP	ENST00000380714.3	37	c.84T>C	CCDS14144.1																																																																																				0.433	AMELX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055746.1	NM_001142		32	21	0	0	0	1	0	32	21				
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:7579311C>A	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	GGGCAACTGACCGTGCAAGTC	0.532		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)	ENST00000420246.2		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"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(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	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7579311C>A	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.375+1G>T	17.37:g.7579311C>A		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_ENST00000445888.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						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	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954926	0.73902	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	40	60	1	0	6.07928e-31	1	7.83657e-31	40	60				
KIF27	55582	broad.mit.edu	37	9	86451951	86451951	+	Missense_Mutation	SNP	C	C	T	rs375179706		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:86451951C>T	ENST00000297814.2	-	18	4314	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K	KIF27_ENST00000413982.1_Missense_Mutation_p.E1325K|KIF27_ENST00000334204.2_Missense_Mutation_p.E1294K|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000412069.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|RP11-575L7.2_ENST00000417672.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1391					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTAGATACTTCGATGGAATCA	0.363																																						ENST00000297814.2																			0				breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						c.(4171-4173)Gaa>Aaa		kinesin family member 27		C	LYS/GLU	1,4405		0,1,2202	60.0	60.0	60.0		4171	1.7	0.3	9		60	0,8600		0,0,4300	no	missense	KIF27	NM_017576.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1391/1402	86451951	1,13005	2203	4300	6503	SO:0001583	missense	55582				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:86451951C>T	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.4171G>A	9.37:g.86451951C>T	ENSP00000297814:p.Glu1391Lys					RP11-575L7.2_ENST00000439378.3_RNA|RP11-575L7.2_ENST00000417672.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.2_ENST00000458016.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1294K|KIF27_ENST00000413982.1_Missense_Mutation_p.E1325K	p.E1391K	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN			18	4314	-			1391					B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	ENST00000297814.2	37	c.4171G>A	CCDS6665.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.826987	0.32329	2.27E-4	0.0	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.78816	-0.98;-1.21;-1.15	3.66	1.71	0.24356	.	0.228496	0.28618	N	0.014706	T	0.74635	0.3742	L	0.32530	0.975	0.33273	D	0.561269	B;D;D	0.76494	0.045;0.999;0.998	B;P;P	0.57548	0.01;0.823;0.67	T	0.77744	-0.2473	10	0.87932	D	0	.	6.7471	0.23468	0.0:0.7202:0.1791:0.1007	.	1294;1325;1391	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	K	1391;1325;1294	ENSP00000297814:E1391K;ENSP00000401688:E1325K;ENSP00000333928:E1294K	ENSP00000297814:E1391K	E	-	1	0	KIF27	85641771	1.000000	0.71417	0.275000	0.24674	0.005000	0.04900	2.166000	0.42406	0.319000	0.23209	-0.232000	0.12228	GAA		0.363	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052861.1	NM_017576		5	61	0	0	0	1	0	5	61				
GPR116	221395	broad.mit.edu	37	6	46826829	46826829	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:46826829C>A	ENST00000283296.7	-	17	3099	c.2811G>T	c.(2809-2811)agG>agT	p.R937S	GPR116_ENST00000456426.2_Missense_Mutation_p.R795S|GPR116_ENST00000545669.1_Missense_Mutation_p.R366S|GPR116_ENST00000265417.7_Missense_Mutation_p.R937S|GPR116_ENST00000362015.4_Missense_Mutation_p.R937S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	937					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCATTGAAATCCTGAATGGCA	0.478																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(2809-2811)agG>agT		G protein-coupled receptor 116							121.0	110.0	113.0					6																	46826829		2203	4300	6503	SO:0001583	missense	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826829C>A	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2811G>T	6.37:g.46826829C>A	ENSP00000283296:p.Arg937Ser					GPR116_ENST00000545669.1_Missense_Mutation_p.R366S|GPR116_ENST00000456426.2_Missense_Mutation_p.R795S|GPR116_ENST00000362015.4_Missense_Mutation_p.R937S|GPR116_ENST00000265417.7_Missense_Mutation_p.R937S	p.R937S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3099	-			937					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	ENST00000283296.7	37	c.2811G>T	CCDS4919.1	.	.	.	.	.	.	.	.	.	.	C	8.823	0.938134	0.18206	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.32	1.41	0.22369	.	0.477970	0.20703	N	0.087230	T	0.21103	0.0508	L	0.60455	1.87	0.09310	N	0.999994	B;B;B;B;B	0.15719	0.007;0.002;0.014;0.01;0.014	B;B;B;B;B	0.22386	0.003;0.005;0.005;0.039;0.005	T	0.30995	-0.9959	10	0.20046	T	0.44	-2.6135	5.6227	0.17465	0.4704:0.3555:0.1069:0.0673	.	366;492;937;795;937	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	S	937;937;937;795;308;937;366	ENSP00000283296:R937S;ENSP00000354563:R937S;ENSP00000412866:R795S;ENSP00000265417:R937S;ENSP00000441581:R366S	ENSP00000265417:R937S	R	-	3	2	GPR116	46934788	0.017000	0.18338	0.252000	0.24328	0.757000	0.42996	-0.047000	0.11963	-0.032000	0.13758	0.555000	0.69702	AGG		0.478	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		32	83	1	0	2.68265e-12	1	3.1617e-12	32	83				
SRRM2	23524	broad.mit.edu	37	16	2819145	2819145	+	Silent	SNP	T	T	C	rs555394813	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:2819145T>C	ENST00000301740.8	+	12	8430	c.7881T>C	c.(7879-7881)tcT>tcC	p.S2627S	SRRM2_ENST00000574593.1_3'UTR|AC092117.2_ENST00000581119.1_RNA	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2627	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						cctcctcttcttcctcctcct	0.592													T|||	3	0.000599042	0.0008	0.0	5008	,	,		17669	0.0		0.001	False		,,,				2504	0.001					ENST00000301740.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						c.(7879-7881)tcT>tcC		serine/arginine repetitive matrix 2							141.0	121.0	128.0					16																	2819145		2198	4300	6498	SO:0001819	synonymous_variant	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2819145T>C	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.7881T>C	16.37:g.2819145T>C						SRRM2_ENST00000574593.1_3'UTR	p.S2627S	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN			12	8430	+			2627			Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Silent	SNP	ENST00000301740.8	37	c.7881T>C	CCDS32373.1																																																																																				0.592	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			12	69	0	0	0	1	0	12	69				
MOB2	81532	broad.mit.edu	37	11	1501650	1501650	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:1501650G>A	ENST00000329957.6	-	3	527	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MOB2_ENST00000526462.1_5'UTR	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN	MOB kinase activator 2	82					actin cytoskeleton organization (GO:0030036)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cytoplasm (GO:0005737)|neuron projection terminus (GO:0044306)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)	4						CGTCTGACACGTCTCTCCTGT	0.572																																						ENST00000329957.6																			0				breast(1)|kidney(2)|lung(1)	4						c.(337-339)aCg>aTg		MOB kinase activator 2							111.0	118.0	116.0					11																	1501650		2088	4214	6302	SO:0001583	missense	81532					nucleus|perinuclear region of cytoplasm	metal ion binding	g.chr11:1501650G>A		CCDS53591.1	11p15.5	2011-09-28			ENSG00000182208	ENSG00000182208		"""MOB kinase activators"""	24904	protein-coding gene	gene with protein product	"""MOB2 Mps One Binder homolog (yeast)"""	611969				11223154, 15067004	Standard	NM_053005		Approved	HCCA2	uc010qwz.2	Q70IA6	OTTHUMG00000165545	ENST00000329957.6:c.338C>T	11.37:g.1501650G>A	ENSP00000328694:p.Thr113Met					MOB2_ENST00000526462.1_5'UTR	p.T113M	NM_001172223.1	NP_001165694.1	Q70IA6	MOB2_HUMAN			3	527	-			82					B4DKP3|Q96M67	Missense_Mutation	SNP	ENST00000329957.6	37	c.338C>T	CCDS53591.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.174545	0.57692	.	.	ENSG00000182208	ENST00000329957	.	.	.	4.9	3.98	0.46160	.	0.141702	0.44688	D	0.000424	T	0.79015	0.4375	M	0.90309	3.105	0.50313	D	0.999863	D;P	0.60160	0.987;0.923	P;P	0.56648	0.803;0.692	D	0.84616	0.0681	9	0.66056	D	0.02	-19.7619	15.3488	0.74368	0.0:0.1402:0.8598:0.0	.	113;82	E9PDA5;Q70IA6	.;MOB2_HUMAN	M	113	.	ENSP00000328694:T113M	T	-	2	0	AC091196.1	1458226	1.000000	0.71417	0.947000	0.38551	0.223000	0.24884	6.137000	0.71710	1.280000	0.44463	0.462000	0.41574	ACG		0.572	MOB2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000384770.1	NM_053005		4	168	0	0	0	1	0	4	168				
ZBTB7A	51341	broad.mit.edu	37	19	4054877	4054877	+	Silent	SNP	G	G	A	rs377496407		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:4054877G>A	ENST00000322357.4	-	2	632	c.354C>T	c.(352-354)gcC>gcT	p.A118A	ZBTB7A_ENST00000601588.1_Silent_p.A118A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	118					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGGCTCACGGCGGGGATCT	0.682																																						ENST00000322357.4																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14						c.(352-354)gcC>gcT		zinc finger and BTB domain containing 7A							23.0	21.0	22.0					19																	4054877		2194	4294	6488	SO:0001819	synonymous_variant	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4054877G>A	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.354C>T	19.37:g.4054877G>A						ZBTB7A_ENST00000601588.1_Silent_p.A118A	p.A118A	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	2	632	-		Hepatocellular(1079;0.137)	118					D6W619|O00456|Q14D41|Q5XG86	Silent	SNP	ENST00000322357.4	37	c.354C>T	CCDS12119.1																																																																																				0.682	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2	NM_015898		8	10	0	0	0	1	0	8	10				
AGBL2	79841	broad.mit.edu	37	11	47681869	47681869	+	Nonsense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr11:47681869G>T	ENST00000525123.1	-	19	2850	c.2565C>A	c.(2563-2565)tgC>tgA	p.C855*	AGBL2_ENST00000298861.4_Nonsense_Mutation_p.C855*|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.C857*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	855						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTTTGGAGAGCATGATACTG	0.423																																						ENST00000525123.1																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						c.(2563-2565)tgC>tgA		ATP/GTP binding protein-like 2							104.0	96.0	99.0					11																	47681869		2201	4298	6499	SO:0001587	stop_gained	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47681869G>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2565C>A	11.37:g.47681869G>T	ENSP00000435582:p.Cys855*					AGBL2_ENST00000298861.4_Nonsense_Mutation_p.C855*|AGBL2_ENST00000357610.3_Nonsense_Mutation_p.C857*	p.C855*	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN			19	2850	-			855					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Nonsense_Mutation	SNP	ENST00000525123.1	37	c.2565C>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394349	0.96009	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861	.	.	.	4.64	3.73	0.42828	.	0.432066	0.20144	N	0.098302	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5733	8.9052	0.35519	0.1016:0.0:0.8984:0.0	.	.	.	.	X	238;855;857;855	.	ENSP00000298861:C855X	C	-	3	2	AGBL2	47638445	0.000000	0.05858	0.076000	0.20297	0.374000	0.29953	0.283000	0.18846	1.326000	0.45319	0.460000	0.39030	TGC		0.423	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		23	66	1	0	7.33532e-06	1	7.91064e-06	23	66				
ATE1	11101	broad.mit.edu	37	10	123658387	123658387	+	Intron	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:123658387T>C	ENST00000224652.6	-	7	1028				ATE1_ENST00000481784.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.Q208R|ATE1_ENST00000369043.3_Missense_Mutation_p.Q304R|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.Q297R|ATE1_ENST00000535655.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGGTGGATCCTGGTGTATGGC	0.418																																						ENST00000369043.3																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(910-912)cAg>cGg		arginyltransferase 1							199.0	165.0	177.0					10																	123658387		2203	4300	6503	SO:0001627	intron_variant	11101				protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity	g.chr10:123658387T>C	AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.942+993A>G	10.37:g.123658387T>C						ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Missense_Mutation_p.Q208R|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000224652.6_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Missense_Mutation_p.Q297R	p.Q304R	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN			7	997	-		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)	304					O95261|Q5SQQ3|Q8WW04	Missense_Mutation	SNP	ENST00000224652.6	37	c.911A>G	CCDS31300.1	.	.	.	.	.	.	.	.	.	.	T	14.18	2.458749	0.43634	.	.	ENSG00000107669	ENST00000369043;ENST00000369040;ENST00000540606	.	.	.	5.66	5.66	0.87406	.	0.331929	0.33272	N	0.005087	T	0.38401	0.1039	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.003;0.003;0.002	T	0.20338	-1.0278	9	0.23891	T	0.37	-21.4002	15.8843	0.79232	0.0:0.0:0.0:1.0	.	297;208;304	F5GXE4;B4E107;O95260-2	.;.;.	R	304;208;297	.	ENSP00000358036:Q208R	Q	-	2	0	ATE1	123648377	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.570000	0.60872	2.164000	0.68074	0.533000	0.62120	CAG		0.418	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001001976		25	73	0	0	0	1	0	25	73				
DNAH11	8701	broad.mit.edu	37	7	21857932	21857932	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:21857932G>T	ENST00000409508.3	+	65	10697	c.10666G>T	c.(10666-10668)Ggc>Tgc	p.G3556C	DNAH11_ENST00000328843.6_Missense_Mutation_p.G3563C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3563	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCCACTACTTGGCAGGAACAC	0.353									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(10687-10689)Ggc>Tgc		dynein, axonemal, heavy chain 11							86.0	79.0	81.0					7																	21857932		1832	4080	5912	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21857932G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10666G>T	7.37:g.21857932G>T	ENSP00000475939:p.Gly3556Cys					DNAH11_ENST00000409508.3_Missense_Mutation_p.G3556C	p.G3563C			Q96DT5	DYH11_HUMAN			66	10718	+			3563			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10687G>T		.	.	.	.	.	.	.	.	.	.	G	24.6	4.552661	0.86127	.	.	ENSG00000105877	ENST00000328843	T	0.38240	1.15	5.48	5.48	0.80851	.	0.095899	0.64402	D	0.000001	T	0.62732	0.2452	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.67900	0.954	T	0.65100	-0.6250	9	0.59425	D	0.04	.	19.4167	0.94704	0.0:0.0:1.0:0.0	.	3563	Q96DT5	DYH11_HUMAN	C	3563	ENSP00000330671:G3563C	ENSP00000330671:G3563C	G	+	1	0	DNAH11	21824457	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.220000	0.72237	2.586000	0.87340	0.644000	0.83932	GGC		0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		14	66	1	0	2.61681e-11	1	3.04066e-11	14	66				
PDE6H	5149	broad.mit.edu	37	12	15131063	15131063	+	Silent	SNP	A	A	G			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:15131063A>G	ENST00000266395.2	+	2	223	c.117A>G	c.(115-117)ccA>ccG	p.P39P		NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN	phosphodiesterase 6H, cGMP-specific, cone, gamma	39	Arg/Lys-rich (basic).				activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|response to stimulus (GO:0050896)|visual perception (GO:0007601)		3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|lung(6)|ovary(1)|skin(2)	10					Sildenafil(DB00203)|Vardenafil(DB00862)	GTAAACCTCCAAAGAAAGGTG	0.458																																						ENST00000266395.2																			0				endometrium(1)|lung(6)|ovary(1)|skin(2)	10						c.(115-117)ccA>ccG		phosphodiesterase 6H, cGMP-specific, cone, gamma							58.0	54.0	55.0					12																	15131063		2203	4300	6503	SO:0001819	synonymous_variant	5149				visual perception		3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr12:15131063A>G		CCDS8672.1	12p13	2008-03-18					3.1.4.17	"""Phosphodiesterases"""	8790	protein-coding gene	gene with protein product		601190				8786098	Standard	NM_006205		Approved		uc001rcr.3	Q13956		ENST00000266395.2:c.117A>G	12.37:g.15131063A>G							p.P39P	NM_006205.2	NP_006196.1	Q13956	CNCG_HUMAN			2	223	+			39			Arg/Lys-rich (basic).		Q52LY7	Silent	SNP	ENST00000266395.2	37	c.117A>G	CCDS8672.1																																																																																				0.458	PDE6H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400880.1			10	27	0	0	0	1	0	10	27				
MTMR11	10903	broad.mit.edu	37	1	149904207	149904207	+	Missense_Mutation	SNP	T	T	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:149904207T>A	ENST00000439741.2	-	11	1251	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.E262V|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000406732.3_Missense_Mutation_p.E306V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	334	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCATTTATCCTCAGCTACAGA	0.448																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1000-1002)gAg>gTg		myotubularin related protein 11							152.0	147.0	149.0					1																	149904207		2203	4300	6503	SO:0001583	missense	10903						phosphatase activity	g.chr1:149904207T>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1001A>T	1.37:g.149904207T>A	ENSP00000391668:p.Glu334Val					MTMR11_ENST00000406732.3_Missense_Mutation_p.E306V|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.E262V	p.E334V	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		11	1251	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		334			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	ENST00000439741.2	37	c.1001A>T	CCDS53360.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.558542	0.86231	.	.	ENSG00000014914	ENST00000369140;ENST00000439741;ENST00000406732;ENST00000405710	D;D;D	0.93426	-3.22;-3.22;-2.61	5.28	5.28	0.74379	Myotubularin phosphatase domain (1);	0.112516	0.64402	D	0.000015	D	0.93710	0.7990	L	0.42487	1.325	0.53688	D	0.99997	P;D;D;D	0.67145	0.937;0.963;0.991;0.996	P;P;D;D	0.68943	0.649;0.649;0.961;0.946	D	0.94822	0.7988	10	0.87932	D	0	.	14.2008	0.65703	0.0:0.0:0.0:1.0	.	176;306;262;334	F8W8W0;A4FU01-6;A4FU01-4;A4FU01	.;.;.;MTMRB_HUMAN	V	262;334;306;176	ENSP00000358136:E262V;ENSP00000391668:E334V;ENSP00000383948:E306V	ENSP00000358136:E262V	E	-	2	0	MTMR11	148170831	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.413000	0.73308	2.217000	0.71921	0.533000	0.62120	GAG		0.448	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		42	118	0	0	0	1	0	42	118				
FRG1B	284802	broad.mit.edu	37	20	29625955	29625955	+	Nonsense_Mutation	SNP	A	A	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:29625955A>T	ENST00000278882.3	+	5	579	c.199A>T	c.(199-201)Aga>Tga	p.R67*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATTGGACCAAGAGAACAATG	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)Aga>Tga																																						SO:0001587	stop_gained	284802							g.chr20:29625955A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.199A>T	20.37:g.29625955A>T	ENSP00000278882:p.Arg67*					FRG1B_ENST00000358464.4_Nonsense_Mutation_p.R67*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.R72*	p.R67*							5	579	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.199A>T		.	.	.	.	.	.	.	.	.	.	a	29.6	5.022161	0.93462	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	.	.	.	X	67;72;67	.	ENSP00000278882:R67X	R	+	1	2	FRG1B	28239616	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	3.670000	0.54569	1.028000	0.39785	0.155000	0.16302	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	102	0	0	0	1	0	5	102				
NAV3	89795	broad.mit.edu	37	12	78400202	78400202	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr12:78400202C>A	ENST00000397909.2	+	8	1057	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	NAV3_ENST00000536525.2_Missense_Mutation_p.S295Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S295Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S295Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	295						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGTCCAGATTCCTCCAAAGGA	0.423										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(883-885)tCc>tAc		neuron navigator 3							46.0	49.0	48.0					12																	78400202		1926	4119	6045	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78400202C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.884C>A	12.37:g.78400202C>A	ENSP00000381007:p.Ser295Tyr	HNSCC(70;0.22)				NAV3_ENST00000536525.2_Missense_Mutation_p.S295Y|NAV3_ENST00000228327.6_Missense_Mutation_p.S295Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S295Y	p.S295Y			Q8IVL0	NAV3_HUMAN			8	1057	+			295					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.884C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.83|16.83	3.230880|3.230880	0.58777|0.58777	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.46451	.|0.87;0.87;0.87;0.87;0.87	5.82|5.82	3.98|3.98	0.46160|0.46160	.|.	.|0.477210	.|0.15397	.|U	.|0.264485	T|T	0.35566|0.35566	0.0936|0.0936	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	.|B;B	.|0.33583	.|0.139;0.418	.|B;B	.|0.30495	.|0.037;0.116	T|T	0.14531|0.14531	-1.0469|-1.0469	5|10	.|0.66056	.|D	.|0.02	-4.1241|-4.1241	11.8479|11.8479	0.52395|0.52395	0.0:0.8109:0.123:0.0661|0.0:0.8109:0.123:0.0661	.|.	.|295;295	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	L|Y	118|295	.|ENSP00000446628:S295Y;ENSP00000446132:S295Y;ENSP00000381007:S295Y;ENSP00000228327:S295Y;ENSP00000266692:S295Y	.|ENSP00000228327:S295Y	F|S	+|+	3|2	2|0	NAV3|NAV3	76924333|76924333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.928000|0.928000	0.56348|0.56348	4.918000|4.918000	0.63376|0.63376	0.792000|0.792000	0.33850|0.33850	0.561000|0.561000	0.74099|0.74099	TTC|TCC		0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		17	44	1	0	2.23348e-06	1	2.42451e-06	17	44				
ZSCAN2	54993	broad.mit.edu	37	15	85164614	85164614	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:85164614G>A	ENST00000448803.2	+	3	1480	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.G395G|ZSCAN2_ENST00000358472.3_Silent_p.G246G|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Silent_p.G396G	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	396					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|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(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCGACTGTGGGCAGAGGTTCA	0.507																																						ENST00000448803.2																			0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(1186-1188)ggG>ggA		zinc finger and SCAN domain containing 2							98.0	90.0	93.0					15																	85164614		2203	4299	6502	SO:0001819	synonymous_variant	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164614G>A	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1188G>A	15.37:g.85164614G>A						ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.G246G|ZSCAN2_ENST00000327179.6_Silent_p.G395G|ZSCAN2_ENST00000546148.1_Silent_p.G396G	p.G396G	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1480	+			396					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Silent	SNP	ENST00000448803.2	37	c.1188G>A	CCDS10329.2																																																																																				0.507	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		5	186	0	0	0	1	0	5	186				
ZFP36	7538	broad.mit.edu	37	19	39898449	39898449	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:39898449G>A	ENST00000248673.3	+	2	149	c.91G>A	c.(91-93)Ggc>Agc	p.G31S	ZFP36_ENST00000597629.1_Missense_Mutation_p.G37S|ZFP36_ENST00000594045.1_3'UTR|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	31					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GTCCAGCCCAGGCTGGGGCTC	0.677																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(109-111)Ggc>Agc		ZFP36 ring finger protein							60.0	68.0	65.0					19																	39898449		2203	4299	6502	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39898449G>A	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.91G>A	19.37:g.39898449G>A	ENSP00000248673:p.Gly31Ser					ZFP36_ENST00000248673.3_Missense_Mutation_p.G31S|ZFP36_ENST00000594045.1_3'UTR	p.G37S			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	183	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		31		P -> S (in dbSNP:rs17878633).			B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	G	6.962	0.547381	0.13312	.	.	ENSG00000128016	ENST00000248673	T	0.17528	2.27	2.44	1.37	0.22104	.	1.711450	0.03318	N	0.191524	T	0.09555	0.0235	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27434	-1.0074	10	0.25751	T	0.34	.	2.9498	0.05858	0.1614:0.0:0.572:0.2666	.	31	P26651	TTP_HUMAN	S	31	ENSP00000248673:G31S	ENSP00000248673:G31S	G	+	1	0	ZFP36	44590289	0.001000	0.12720	0.002000	0.10522	0.987000	0.75469	0.112000	0.15479	0.234000	0.21139	0.478000	0.44815	GGC		0.677	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				72	138	0	0	0	1	0	72	138				
BAI3	577	broad.mit.edu	37	6	69349298	69349298	+	Missense_Mutation	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:69349298G>T	ENST00000370598.1	+	3	1552	c.731G>T	c.(730-732)aGg>aTg	p.R244M		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	244					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R244K(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATCTTACCAGGGAGGCCAAG	0.527																																						ENST00000370598.1																			1	Substitution - Missense(1)	p.R244K(1)	skin(1)	NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(730-732)aGg>aTg		brain-specific angiogenesis inhibitor 3							19.0	19.0	19.0					6																	69349298		2197	4290	6487	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349298G>T	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.731G>T	6.37:g.69349298G>T	ENSP00000359630:p.Arg244Met						p.R244M	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN			3	1552	+		all_lung(197;0.212)	244					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.731G>T	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	G	15.07	2.723815	0.48728	.	.	ENSG00000135298	ENST00000370598	T	0.21543	2.0	5.23	5.23	0.72850	.	0.220504	0.38959	N	0.001509	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	P	0.39576	0.679	B	0.31614	0.133	T	0.22417	-1.0217	10	0.48119	T	0.1	.	12.5269	0.56091	0.077:0.0:0.923:0.0	.	244	O60242	BAI3_HUMAN	M	244	ENSP00000359630:R244M	ENSP00000359630:R244M	R	+	2	0	BAI3	69406019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.043000	0.57354	2.599000	0.87857	0.563000	0.77884	AGG		0.527	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			9	29	1	0	0.000274275	1	0.000290099	9	29				
EEPD1	80820	broad.mit.edu	37	7	36194103	36194103	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:36194103C>T	ENST00000242108.4	+	2	888	c.170C>T	c.(169-171)aCg>aTg	p.T57M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T57M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	57	HhH.				DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CCTGGGGTGACGCGTGCCGTG	0.577																																						ENST00000242108.4																			0				endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						c.(169-171)aCg>aTg		endonuclease/exonuclease/phosphatase family domain containing 1							114.0	114.0	114.0					7																	36194103		2203	4300	6503	SO:0001583	missense	80820				DNA repair		DNA binding	g.chr7:36194103C>T	AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.170C>T	7.37:g.36194103C>T	ENSP00000242108:p.Thr57Met					EEPD1_ENST00000534978.1_Missense_Mutation_p.T57M	p.T57M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN			2	888	+			57			HhH.		Q96K64|Q9C0F7	Missense_Mutation	SNP	ENST00000242108.4	37	c.170C>T	CCDS34619.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.534858	0.45073	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	T;T	0.24350	1.86;1.86	5.68	5.68	0.88126	RuvA domain 2-like (1);Competence protein ComEA, helix-hairpin-helix domain (1);Helix-hairpin-helix DNA-binding motif, class 1 (1);	0.211260	0.49916	D	0.000126	T	0.47746	0.1462	M	0.64404	1.975	0.38441	D	0.946697	D	0.89917	1.0	D	0.71414	0.973	T	0.49495	-0.8934	10	0.66056	D	0.02	-18.5168	14.6177	0.68560	0.1457:0.8543:0.0:0.0	.	57	Q7L9B9	EEPD1_HUMAN	M	57	ENSP00000242108:T57M;ENSP00000442692:T57M	ENSP00000242108:T57M	T	+	2	0	EEPD1	36160628	0.979000	0.34478	0.958000	0.39756	0.554000	0.35429	2.497000	0.45354	2.683000	0.91414	0.561000	0.74099	ACG		0.577	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337602.1	NM_030636		5	284	0	0	0	1	0	5	284				
XPO1	7514	broad.mit.edu	37	2	61725810	61725810	+	Missense_Mutation	SNP	T	T	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61725810T>C	ENST00000401558.2	-	9	1484	c.757A>G	c.(757-759)Aag>Gag	p.K253E	XPO1_ENST00000406957.1_Missense_Mutation_p.K253E|XPO1_ENST00000404992.2_Missense_Mutation_p.K253E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	253	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CACTGTACCTTATAAATCAAT	0.363			Mis		CLL																																	ENST00000401558.2			-'	Dom	yes		2	2p15	7514	Mis	"""exportin 1 (CRM1 homolog, yeast)"""			L			CLL		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39						c.(757-759)Aag>Gag		exportin 1 (CRM1 homolog, yeast)							79.0	81.0	80.0					2																	61725810		2203	4300	6503	SO:0001583	missense	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61725810T>C	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.757A>G	2.37:g.61725810T>C	ENSP00000384863:p.Lys253Glu					XPO1_ENST00000406957.1_Missense_Mutation_p.K253E|XPO1_ENST00000404992.2_Missense_Mutation_p.K253E	p.K253E	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		9	1484	-			253			Necessary for HTLV-1 Rex-mediated mRNA export.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Missense_Mutation	SNP	ENST00000401558.2	37	c.757A>G	CCDS33205.1	.	.	.	.	.	.	.	.	.	.	T	28.8	4.948963	0.92660	.	.	ENSG00000082898	ENST00000401558;ENST00000404992;ENST00000406957	T;T;T	0.40476	1.03;1.03;1.03	5.62	5.62	0.85841	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52517	0.1739	M	0.83953	2.67	0.80722	D	1	P	0.52061	0.95	P	0.47299	0.543	T	0.55761	-0.8090	10	0.16896	T	0.51	-13.2619	15.8143	0.78589	0.0:0.0:0.0:1.0	.	253	O14980	XPO1_HUMAN	E	253	ENSP00000384863:K253E;ENSP00000385942:K253E;ENSP00000385559:K253E	ENSP00000384863:K253E	K	-	1	0	XPO1	61579314	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	8.031000	0.88826	2.128000	0.65567	0.482000	0.46254	AAG		0.363	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3	NM_003400		13	36	0	0	0	1	0	13	36				
DLGAP4	22839	broad.mit.edu	37	20	35060533	35060533	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr20:35060533G>A	ENST00000373907.2	+	2	612	c.413G>A	c.(412-414)cGc>cAc	p.R138H	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R138H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R138H|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R138H			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	138					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)		p.R138L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGCCCTGGCCGCATCCGCCAC	0.632																																						ENST00000373913.3																			1	Substitution - Missense(1)	p.R138L(1)	lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(412-414)cGc>cAc		discs, large (Drosophila) homolog-associated protein 4							52.0	54.0	53.0					20																	35060533		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060533G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.413G>A	20.37:g.35060533G>A	ENSP00000363014:p.Arg138His					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R138H|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R138H|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R138H	p.R138H			Q9Y2H0	DLGP4_HUMAN			3	893	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	138					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.413G>A		.	.	.	.	.	.	.	.	.	.	G	23.5	4.423319	0.83559	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	5.53	4.59	0.56863	.	0.163096	0.56097	D	0.000027	T	0.47414	0.1444	M	0.82517	2.595	0.58432	D	0.999999	D	0.76494	0.999	D	0.65874	0.939	T	0.54715	-0.8252	10	0.87932	D	0	.	13.3659	0.60684	0.0755:0.0:0.9245:0.0	.	138	Q9Y2H0-1	.	H	138	ENSP00000363023:R138H;ENSP00000384954:R138H;ENSP00000363014:R138H;ENSP00000341633:R138H	ENSP00000341633:R138H	R	+	2	0	DLGAP4	34493947	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	7.682000	0.84083	1.334000	0.45468	0.561000	0.74099	CGC		0.632	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		4	154	0	0	0	1	0	4	154				
SPAG1	6674	broad.mit.edu	37	8	101252864	101252864	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:101252864G>A	ENST00000388798.2	+	18	2705	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	SPAG1_ENST00000251809.3_Silent_p.P838P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	838					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGATTTGCCGATGTTTTTAA	0.378																																						ENST00000388798.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2512-2514)ccG>ccA		sperm associated antigen 1							78.0	74.0	76.0					8																	101252864		2203	4300	6503	SO:0001819	synonymous_variant	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101252864G>A	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2514G>A	8.37:g.101252864G>A						SPAG1_ENST00000251809.3_Silent_p.P838P	p.P838P	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	18	2705	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	838					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Silent	SNP	ENST00000388798.2	37	c.2514G>A	CCDS34930.1																																																																																				0.378	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		17	41	0	0	0	1	0	17	41				
C6orf118	168090	broad.mit.edu	37	6	165715178	165715178	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:165715178G>A	ENST00000230301.8	-	2	653	c.633C>T	c.(631-633)agC>agT	p.S211S	C6orf118_ENST00000543069.1_Silent_p.S107S	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	211										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACCTGTCTGCGCTGGTGGCTC	0.627																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(319-321)agC>agT		chromosome 6 open reading frame 118							65.0	64.0	65.0					6																	165715178		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715178G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.633C>T	6.37:g.165715178G>A						C6orf118_ENST00000230301.8_Silent_p.S211S	p.S107S			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	902	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	211					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.321C>T	CCDS5288.1																																																																																				0.627	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		9	88	0	0	0	1	0	9	88				
TPST1	8460	broad.mit.edu	37	7	65706141	65706141	+	Silent	SNP	C	C	T	rs139548967		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:65706141C>T	ENST00000304842.5	+	2	1154	c.729C>T	c.(727-729)gtC>gtT	p.V243V	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	243					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AACAACTTGTCTTACATCCTG	0.423																																						ENST00000304842.5																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						c.(727-729)gtC>gtT		tyrosylprotein sulfotransferase 1		C		0,4406		0,0,2203	120.0	102.0	108.0		729	1.7	0.8	7	dbSNP_134	108	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TPST1	NM_003596.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		243/371	65706141	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8460				inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity	g.chr7:65706141C>T	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.729C>T	7.37:g.65706141C>T						TPST1_ENST00000480281.1_Intron	p.V243V	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN			2	1154	+			243					A4D2M0|Q6FGM7	Silent	SNP	ENST00000304842.5	37	c.729C>T	CCDS5533.1																																																																																				0.423	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596		22	45	0	0	0	1	0	22	45				
SLC13A1	6561	broad.mit.edu	37	7	122774493	122774493	+	Silent	SNP	G	G	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:122774493G>T	ENST00000194130.2	-	8	942	c.903C>A	c.(901-903)atC>atA	p.I301I	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	301					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACTGAAGCCAGATCCAGGATA	0.413																																						ENST00000194130.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45						c.(901-903)atC>atA		solute carrier family 13 (sodium/sulfate symporter), member 1	Succinic acid(DB00139)						130.0	110.0	117.0					7																	122774493		2203	4300	6503	SO:0001819	synonymous_variant	6561					integral to membrane|plasma membrane	sodium:sulfate symporter activity	g.chr7:122774493G>T		CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.903C>A	7.37:g.122774493G>T						SLC13A1_ENST00000539873.1_3'UTR	p.I301I	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN			8	942	-			301					Q9H5Z0	Silent	SNP	ENST00000194130.2	37	c.903C>A	CCDS5786.1																																																																																				0.413	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347404.1	NM_022444		15	43	1	0	6.72482e-11	1	7.65239e-11	15	43				
SALL1	6299	broad.mit.edu	37	16	51173850	51173850	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:51173850C>T	ENST00000251020.4	-	2	2316	c.2283G>A	c.(2281-2283)ccG>ccA	p.P761P	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000440970.1_Silent_p.P664P|SALL1_ENST00000566102.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	761					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			GGACTCTGAGCGGGGGCATAG	0.552																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(1990-1992)ccG>ccA		spalt-like transcription factor 1							81.0	84.0	83.0					16																	51173850		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173850C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2283G>A	16.37:g.51173850C>T						SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Silent_p.P761P|SALL1_ENST00000541611.1_Intron	p.P664P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2423	-		all_cancers(37;0.0322)	761					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.1992G>A	CCDS10747.1																																																																																				0.552	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		18	80	0	0	0	1	0	18	80				
PTPRU	10076	broad.mit.edu	37	1	29587213	29587213	+	Silent	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:29587213C>T	ENST00000345512.3	+	7	1071	c.942C>T	c.(940-942)gaC>gaT	p.D314D	PTPRU_ENST00000373779.3_Silent_p.D314D|PTPRU_ENST00000356870.3_Silent_p.D314D|PTPRU_ENST00000428026.2_Silent_p.D314D|PTPRU_ENST00000323874.8_Silent_p.D314D|PTPRU_ENST00000460170.2_Silent_p.D314D	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	314	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TCATTGGCGACGGGCCGATCG	0.657																																						ENST00000356870.3																			0				breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79						c.(940-942)gaC>gaT		protein tyrosine phosphatase, receptor type, U							78.0	73.0	75.0					1																	29587213		2203	4300	6503	SO:0001819	synonymous_variant	10076				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:29587213C>T	U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.942C>T	1.37:g.29587213C>T						PTPRU_ENST00000428026.2_Silent_p.D314D|PTPRU_ENST00000373779.3_Silent_p.D314D|PTPRU_ENST00000345512.3_Silent_p.D314D|PTPRU_ENST00000323874.8_Silent_p.D314D|PTPRU_ENST00000460170.2_Silent_p.D314D	p.D314D	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)	7	1052	+		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	314			Fibronectin type-III 1.		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	c.942C>T	CCDS334.1																																																																																				0.657	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1			22	68	0	0	0	1	0	22	68				
PUS10	150962	broad.mit.edu	37	2	61181107	61181107	+	Missense_Mutation	SNP	G	G	C			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:61181107G>C	ENST00000316752.6	-	14	1412	c.1151C>G	c.(1150-1152)tCt>tGt	p.S384C	PUS10_ENST00000407787.1_Missense_Mutation_p.S384C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10	384					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			GATTTTGTTAGATGAGTTATT	0.373																																						ENST00000316752.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22						c.(1150-1152)tCt>tGt		pseudouridylate synthase 10							101.0	100.0	101.0					2																	61181107		2203	4300	6503	SO:0001583	missense	150962				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr2:61181107G>C	AK056874	CCDS1865.1	2p16.1	2008-02-05	2008-01-09	2008-01-09	ENSG00000162927	ENSG00000162927			26505	protein-coding gene	gene with protein product		612787	"""coiled-coil domain containing 139"""	CCDC139		17900615	Standard	NM_144709		Approved	FLJ32312	uc002sao.3	Q3MIT2	OTTHUMG00000129423	ENST00000316752.6:c.1151C>G	2.37:g.61181107G>C	ENSP00000326003:p.Ser384Cys					PUS10_ENST00000407787.1_Missense_Mutation_p.S384C	p.S384C	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)		14	1412	-			384					Q5JPJ5|Q96MI8	Missense_Mutation	SNP	ENST00000316752.6	37	c.1151C>G	CCDS1865.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344476	0.82022	.	.	ENSG00000162927	ENST00000316752;ENST00000407787	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.83207	0.5204	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.964;0.964	D	0.84790	0.0778	9	0.87932	D	0	-14.3683	19.8372	0.96661	0.0:0.0:1.0:0.0	.	384;384	A8K6R4;Q3MIT2	.;PUS10_HUMAN	C	384	.	ENSP00000326003:S384C	S	-	2	0	PUS10	61034611	1.000000	0.71417	0.976000	0.42696	0.993000	0.82548	9.035000	0.93752	2.695000	0.91970	0.462000	0.41574	TCT		0.373	PUS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251582.2	NM_144709		12	45	0	0	0	1	0	12	45				
CA12	771	broad.mit.edu	37	15	63637703	63637703	+	Silent	SNP	G	G	A	rs200391599	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr15:63637703G>A	ENST00000178638.3	-	4	842	c.402C>T	c.(400-402)acC>acT	p.T134T	CA12_ENST00000422263.2_Silent_p.T74T|CA12_ENST00000344366.3_Silent_p.T134T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	134					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GTCCGCTGACGGTGTGCTCAG	0.652													G|||	2	0.000399361	0.0	0.0	5008	,	,		20447	0.002		0.0	False		,,,				2504	0.0					ENST00000178638.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16						c.(400-402)acC>acT		carbonic anhydrase XII	Acetazolamide(DB00819)						74.0	66.0	69.0					15																	63637703		2203	4300	6503	SO:0001819	synonymous_variant	771				one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	g.chr15:63637703G>A	AF051882	CCDS10185.1, CCDS10186.1	15q22	2004-01-19			ENSG00000074410	ENSG00000074410		"""Carbonic anhydrases"""	1371	protein-coding gene	gene with protein product		603263				9636197	Standard	NM_001218		Approved	HsT18816	uc002amc.3	O43570	OTTHUMG00000132881	ENST00000178638.3:c.402C>T	15.37:g.63637703G>A						CA12_ENST00000422263.2_Silent_p.T74T|CA12_ENST00000344366.3_Silent_p.T134T	p.T134T	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN			4	842	-			134					B2RE24|Q53YE5|Q9BWG2	Silent	SNP	ENST00000178638.3	37	c.402C>T	CCDS10185.1																																																																																				0.652	CA12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256370.1	NM_001218		8	31	0	0	0	1	0	8	31				
WWC2	80014	broad.mit.edu	37	4	184174979	184174979	+	Silent	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr4:184174979G>A	ENST00000403733.3	+	9	1222	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E	WWC2_ENST00000513834.1_Silent_p.E341E|WWC2_ENST00000448232.2_Silent_p.E341E|WWC2_ENST00000378925.3_Silent_p.E243E|WWC2_ENST00000504005.1_Silent_p.E23E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	341					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		TGGATATTGAGAAGGAAAAAC	0.398																																						ENST00000403733.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32						c.(1021-1023)gaG>gaA		WW and C2 domain containing 2							39.0	42.0	41.0					4																	184174979		2203	4300	6503	SO:0001819	synonymous_variant	80014							g.chr4:184174979G>A	BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1023G>A	4.37:g.184174979G>A						WWC2_ENST00000378925.3_Silent_p.E243E|WWC2_ENST00000504005.1_Silent_p.E23E|WWC2_ENST00000513834.1_Silent_p.E341E|WWC2_ENST00000448232.2_Silent_p.E341E	p.E341E	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)	9	1222	+		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)	341					Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Silent	SNP	ENST00000403733.3	37	c.1023G>A	CCDS34109.2																																																																																				0.398	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1	NM_024949		4	19	0	0	0	1	0	4	19				
SPAG9	9043	broad.mit.edu	37	17	49063101	49063101	+	Missense_Mutation	SNP	C	C	T	rs139856934		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr17:49063101C>T	ENST00000262013.7	-	23	3186	c.2978G>A	c.(2977-2979)tGt>tAt	p.C993Y	SPAG9_ENST00000357122.4_Missense_Mutation_p.C979Y|SPAG9_ENST00000505279.1_Missense_Mutation_p.C983Y|SPAG9_ENST00000510283.1_Missense_Mutation_p.C836Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	993					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GGAATGGAGACATTTCCTCCA	0.328																																						ENST00000262013.7																			0				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						c.(2977-2979)tGt>tAt		sperm associated antigen 9							91.0	75.0	80.0					17																	49063101		2203	4300	6503	SO:0001583	missense	9043				positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm		g.chr17:49063101C>T	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2978G>A	17.37:g.49063101C>T	ENSP00000262013:p.Cys993Tyr					SPAG9_ENST00000505279.1_Missense_Mutation_p.C983Y|SPAG9_ENST00000357122.4_Missense_Mutation_p.C979Y|SPAG9_ENST00000510283.1_Missense_Mutation_p.C836Y	p.C993Y	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.24e-07)		23	3186	-			993					A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	37	c.2978G>A	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.9|27.9	4.875482|4.875482	0.91664|0.91664	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445|ENST00000513906	T;T;T;T|.	0.36340|.	1.26;1.26;1.26;1.26|.	5.57|5.57	5.57|5.57	0.84162|0.84162	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85487|0.85487	0.5708|0.5708	M|M	0.89715|0.89715	3.055|3.055	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.995;1.0;0.999;1.0|.	D;D;D;D|.	0.79784|.	0.942;0.984;0.993;0.993|.	D|D	0.87507|0.87507	0.2437|0.2437	10|5	0.72032|.	D|.	0.01|.	-11.7212|-11.7212	19.5584|19.5584	0.95363|0.95363	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	983;993;979;836|.	O60271-2;O60271;O60271-4;E7ENU2|.	.;JIP4_HUMAN;.;.|.	Y|I	993;750;740;530;836;983;979;591|237	ENSP00000262013:C993Y;ENSP00000423165:C836Y;ENSP00000426900:C983Y;ENSP00000349636:C979Y|.	ENSP00000262013:C993Y|.	C|V	-|-	2|1	0|0	SPAG9|SPAG9	46418100|46418100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.745000|7.745000	0.85046|0.85046	2.602000|2.602000	0.87976|0.87976	0.591000|0.591000	0.81541|0.81541	TGT|GTC		0.328	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971		6	25	0	0	0	1	0	6	25				
PBRM1	55193	broad.mit.edu	37	3	52651282	52651282	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:52651282G>A	ENST00000296302.7	-	14	1815	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	PBRM1_ENST00000409114.3_Missense_Mutation_p.S620F|PBRM1_ENST00000356770.4_Missense_Mutation_p.S573F|PBRM1_ENST00000409767.1_Missense_Mutation_p.S620F|PBRM1_ENST00000337303.4_Missense_Mutation_p.S605F|PBRM1_ENST00000410007.1_Missense_Mutation_p.S605F|PBRM1_ENST00000409057.1_Missense_Mutation_p.S605F|PBRM1_ENST00000394830.3_Missense_Mutation_p.S605F			Q86U86	PB1_HUMAN	polybromo 1	605	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S605F(2)|p.S573F(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTTACCTGGGAGCCCTCCTC	0.483			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Substitution - Missense(3)	p.S605F(2)|p.S573F(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1717-1719)tCc>tTc		polybromo 1							75.0	68.0	70.0					3																	52651282		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651282G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1814C>T	3.37:g.52651282G>A	ENSP00000296302:p.Ser605Phe					PBRM1_ENST00000409114.3_Missense_Mutation_p.S620F|PBRM1_ENST00000409767.1_Missense_Mutation_p.S620F|PBRM1_ENST00000296302.7_Missense_Mutation_p.S605F|PBRM1_ENST00000394830.3_Missense_Mutation_p.S605F|PBRM1_ENST00000337303.4_Missense_Mutation_p.S605F|PBRM1_ENST00000409057.1_Missense_Mutation_p.S605F|PBRM1_ENST00000410007.1_Missense_Mutation_p.S605F	p.S573F			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1720	-			605			Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1718C>T		.	.	.	.	.	.	.	.	.	.	G	27.5	4.833992	0.91036	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67;1.67	5.74	5.74	0.90152	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.73249	0.3563	H	0.97783	4.075	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.997;0.999;0.998;1.0;1.0;0.999;0.999	D	0.83560	0.0106	10	0.87932	D	0	-6.8187	19.9189	0.97077	0.0:0.0:1.0:0.0	.	605;605;605;605;620;620;605;573;605	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	F	573;605;605;605;605;605;620;620;605;564	ENSP00000349213:S573F;ENSP00000378307:S605F;ENSP00000296302:S605F;ENSP00000338302:S605F;ENSP00000386593:S605F;ENSP00000386529:S605F;ENSP00000386643:S620F;ENSP00000386601:S620F;ENSP00000387775:S605F;ENSP00000397662:S564F	ENSP00000296302:S605F	S	-	2	0	PBRM1	52626322	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.869000	0.99810	2.707000	0.92482	0.655000	0.94253	TCC		0.483	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		13	15	0	0	0	1	0	13	15				
WASF3	10810	broad.mit.edu	37	13	27256893	27256893	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr13:27256893C>T	ENST00000335327.5	+	9	1311	c.1133C>T	c.(1132-1134)aCg>aTg	p.T378M	WASF3_ENST00000361042.4_Missense_Mutation_p.T375M	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	378					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCAGCTCCACGCACGCAGCT	0.706																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1123-1125)aCg>aTg		WAS protein family, member 3							100.0	89.0	93.0					13																	27256893		2203	4300	6503	SO:0001583	missense	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256893C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1133C>T	13.37:g.27256893C>T	ENSP00000335055:p.Thr378Met					WASF3_ENST00000335327.5_Missense_Mutation_p.T378M	p.T375M			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	9	1349	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	378					O94974|Q86VQ2	Missense_Mutation	SNP	ENST00000335327.5	37	c.1124C>T	CCDS9318.1	.	.	.	.	.	.	.	.	.	.	C	5.711	0.315607	0.10789	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.49720	0.77;0.77	5.34	4.5	0.54988	.	0.717404	0.14505	N	0.315466	T	0.43678	0.1258	L	0.60455	1.87	0.20196	N	0.999924	B;B	0.24882	0.113;0.001	B;B	0.11329	0.006;0.002	T	0.37033	-0.9723	10	0.51188	T	0.08	-5.4179	10.5222	0.44924	0.0:0.7947:0.0:0.2053	.	375;378	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	M	375;378	ENSP00000354325:T375M;ENSP00000335055:T378M	ENSP00000335055:T378M	T	+	2	0	WASF3	26154893	0.000000	0.05858	0.016000	0.15963	0.037000	0.13140	0.921000	0.28718	1.258000	0.44101	0.561000	0.74099	ACG		0.706	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			71	61	0	0	0	1	0	71	61				
TCP10L2	401285	broad.mit.edu	37	6	167592606	167592606	+	Silent	SNP	T	T	A	rs201866116	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:167592606T>A	ENST00000366832.2	+	6	896	c.765T>A	c.(763-765)gtT>gtA	p.V255V		NM_001145121.1	NP_001138593.1	B9ZVM9	TCP2L_HUMAN	t-complex 10-like 2	255										endometrium(1)|kidney(2)|lung(3)	6						CAGCCGGAGTTGCTGGTGAGC	0.577																																						ENST00000366832.2																			0				endometrium(1)|kidney(2)|lung(3)	6						c.(763-765)gtT>gtA		t-complex 10-like 2																																				SO:0001819	synonymous_variant	401285							g.chr6:167592606T>A		CCDS47514.1	6q27	2012-09-20	2012-09-20		ENSG00000166984	ENSG00000166984			21254	protein-coding gene	gene with protein product			"""t-complex 10-like 2 (mouse)"""				Standard	NM_001145121		Approved	bA517H2.3	uc010kkp.3	B9ZVM9	OTTHUMG00000016014	ENST00000366832.2:c.765T>A	6.37:g.167592606T>A							p.V255V	NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN			6	896	+			255						Silent	SNP	ENST00000366832.2	37	c.765T>A	CCDS47514.1																																																																																				0.577	TCP10L2-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043112.5	XR_040749		5	21	0	0	0	1	0	5	21				
NXPH1	30010	broad.mit.edu	37	7	8791187	8791187	+	Missense_Mutation	SNP	G	G	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr7:8791187G>A	ENST00000405863.1	+	3	1515	c.604G>A	c.(604-606)Gac>Aac	p.D202N	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	202	V (Cys-rich).					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		TGAAAAGGTTGACAAGGCTAC	0.433																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(604-606)Gac>Aac		neurexophilin 1							58.0	54.0	55.0					7																	8791187		1879	4109	5988	SO:0001583	missense	30010					extracellular region		g.chr7:8791187G>A	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.604G>A	7.37:g.8791187G>A	ENSP00000384551:p.Asp202Asn					NXPH1_ENST00000602349.1_Missense_Mutation_p.D85N|NXPH1_ENST00000497400.1_3'UTR	p.D202N	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1515	+		Ovarian(82;0.0628)	202			V (Cys-rich).		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.604G>A	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821158	0.71028	.	.	ENSG00000122584	ENST00000405863;ENST00000417186	.	.	.	6.06	6.06	0.98353	.	0.043023	0.85682	D	0.000000	T	0.64605	0.2613	L	0.46157	1.445	0.80722	D	1	B	0.17667	0.023	B	0.27262	0.078	T	0.57046	-0.7878	9	0.18276	T	0.48	-15.4457	20.6208	0.99490	0.0:0.0:1.0:0.0	.	202	P58417	NXPH1_HUMAN	N	202;85	.	ENSP00000384551:D202N	D	+	1	0	NXPH1	8757712	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.835000	0.99442	2.882000	0.98803	0.655000	0.94253	GAC		0.433	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		10	27	0	0	0	1	0	10	27				
CDPF1	150383	broad.mit.edu	37	22	46644182	46644182	+	Splice_Site	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr22:46644182C>A	ENST00000314567.3	-	2	424		c.e2-1		CDPF1_ENST00000475605.1_Intron|CDPF1_ENST00000404583.1_5'UTR|CDPF1_ENST00000404744.1_5'UTR	NM_207327.4	NP_997210.3	Q6NVV7	CDPF1_HUMAN	cysteine-rich, DPF motif domain containing 1																		GGGACGCCATCTGCAAGATCA	0.537																																						ENST00000314567.3																			0											c.e2-1		cysteine-rich, DPF motif domain containing 1							63.0	49.0	54.0					22																	46644182		2203	4300	6503	SO:0001630	splice_region_variant	150383							g.chr22:46644182C>A		CCDS33670.1	22q13.31	2012-07-18	2012-07-18	2012-07-18	ENSG00000205643	ENSG00000205643			33710	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 40"""	C22orf40			Standard	NM_207327		Approved	LOC150383	uc003bhe.3	Q6NVV7	OTTHUMG00000030672	ENST00000314567.3:c.1-1G>T	22.37:g.46644182C>A						CDPF1_ENST00000404583.1_5'UTR|CDPF1_ENST00000404744.1_5'UTR|CDPF1_ENST00000475605.1_Intron		NM_207327.4	NP_997210.3					2	424	-								A6NCA1|A9IU12|A9IU16|Q3ZCR8	Splice_Site	SNP	ENST00000314567.3	37		CCDS33670.1																																																																																				0.537	CDPF1-001	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075560.4	NM_207327	Intron	5	16	1	0	0.0215528	1	0.0222263	5	16				
LRP2	4036	broad.mit.edu	37	2	170063536	170063536	+	Missense_Mutation	SNP	C	C	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:170063536C>A	ENST00000263816.3	-	39	6979	c.6694G>T	c.(6694-6696)Ggc>Tgc	p.G2232C		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2232					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)"""	GTGACAATGCCCTCTGACACA	0.468																																						ENST00000263816.3																			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.(6694-6696)Ggc>Tgc		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						185.0	169.0	174.0					2																	170063536		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.chr2:170063536C>A		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.6694G>T	2.37:g.170063536C>A	ENSP00000263816:p.Gly2232Cys						p.G2232C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	39	6979	-			2232					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.6694G>T	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255568	0.80135	.	.	ENSG00000081479	ENST00000263816	D	0.95482	-3.72	5.98	5.06	0.68205	Six-bladed beta-propeller, TolB-like (1);	0.096299	0.64402	D	0.000001	D	0.97895	0.9308	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98545	1.0634	10	0.72032	D	0.01	.	14.7444	0.69480	0.0:0.9278:0.0:0.0722	.	2232	P98164	LRP2_HUMAN	C	2232	ENSP00000263816:G2232C	ENSP00000263816:G2232C	G	-	1	0	LRP2	169771782	0.999000	0.42202	0.874000	0.34290	0.858000	0.48976	4.095000	0.57728	1.425000	0.47237	0.650000	0.86243	GGC		0.468	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		64	162	1	0	8.52622e-23	1	1.08217e-22	64	162				
ZNF33A	7581	broad.mit.edu	37	10	38305868	38305868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:38305868C>T	ENST00000458705.2	+	3	237	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	ZNF33A_ENST00000469037.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Q34*|ZNF33A_ENST00000374618.3_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Q27*			Q06730	ZN33A_HUMAN	zinc finger protein 33A	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						GGAGGAGTGGCAGCACCTGGA	0.473																																						ENST00000374618.3																			0				cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						c.(79-81)Cag>Tag		zinc finger protein 33A							67.0	69.0	68.0					10																	38305868		2203	4297	6500	SO:0001587	stop_gained	7581					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38305868C>T	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.79C>T	10.37:g.38305868C>T	ENSP00000387713:p.Gln27*					ZNF33A_ENST00000469037.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000458705.2_Nonsense_Mutation_p.Q27*|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000432900.2_Nonsense_Mutation_p.Q34*|ZNF33A_ENST00000307441.9_Nonsense_Mutation_p.Q27*	p.Q27*	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN			3	257	+			27			KRAB.		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Nonsense_Mutation	SNP	ENST00000458705.2	37	c.79C>T	CCDS31182.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.561907	0.45590	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000277672;ENST00000307441	.	.	.	3.64	-1.07	0.09968	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.7721	0.23598	0.0:0.3326:0.5514:0.1159	.	.	.	.	X	27;34;27;27;27	.	ENSP00000277672:Q27X	Q	+	1	0	ZNF33A	38345874	0.844000	0.29557	0.617000	0.29091	0.716000	0.41182	0.431000	0.21444	0.009000	0.14813	-0.502000	0.04539	CAG		0.473	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974		23	73	0	0	0	1	0	23	73				
GALNT2	2590	broad.mit.edu	37	1	230401042	230401042	+	Missense_Mutation	SNP	C	C	T			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr1:230401042C>T	ENST00000366672.4	+	14	1441	c.1369C>T	c.(1369-1371)Ctc>Ttc	p.L457F	GALNT2_ENST00000485438.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.L419F|GALNT2_ENST00000541865.1_3'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	457	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|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 vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AACTAACTGCCTCGACACTTT	0.507																																						ENST00000366672.4																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32						c.(1369-1371)Ctc>Ttc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)							316.0	282.0	293.0					1																	230401042		2203	4300	6503	SO:0001583	missense	2590				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr1:230401042C>T	BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.1369C>T	1.37:g.230401042C>T	ENSP00000355632:p.Leu457Phe					RP5-956O18.2_ENST00000440729.1_RNA|GALNT2_ENST00000543760.1_Missense_Mutation_p.L419F|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR	p.L457F	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN			14	1441	+	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)	457			Ricin B-type lectin.		A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Missense_Mutation	SNP	ENST00000366672.4	37	c.1369C>T	CCDS1582.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174082	0.78452	.	.	ENSG00000143641	ENST00000543760;ENST00000366672;ENST00000543291	T;T	0.53857	0.6;0.6	5.34	5.34	0.76211	Ricin B-related lectin (1);Ricin B lectin (3);	0.065832	0.64402	N	0.000006	T	0.58104	0.2099	M	0.76002	2.32	0.80722	D	1	P;B	0.39809	0.689;0.382	B;B	0.38842	0.283;0.186	T	0.64841	-0.6312	10	0.59425	D	0.04	.	19.0469	0.93025	0.0:1.0:0.0:0.0	.	457;419	Q10471;G3V1S6	GALT2_HUMAN;.	F	419;457;338	ENSP00000445017:L419F;ENSP00000355632:L457F	ENSP00000355632:L457F	L	+	1	0	GALNT2	228467665	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	6.052000	0.71080	2.497000	0.84241	0.561000	0.74099	CTC		0.507	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092158.1	NM_004481		80	240	0	0	0	1	0	80	240				
GLI2	2736	broad.mit.edu	37	2	121748026	121748030	+	Frame_Shift_Del	DEL	CGATG	CGATG	-	rs367813164		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:121748026_121748030delCGATG	ENST00000452319.1	+	14	4596_4600	c.4536_4540delCGATG	c.(4534-4542)ttcgatgccfs	p.DA1513fs	GLI2_ENST00000361492.4_Frame_Shift_Del_p.DA1513fs|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATTGACTTCGATGCCATCATGGA	0.629																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4534-4542)ttccfs		GLI family zinc finger 2																																				SO:0001589	frameshift_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748026_121748030delCGATG		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4536_4540delCGATG	2.37:g.121748026_121748030delCGATG	ENSP00000390436:p.Asp1513fs					GLI2_ENST00000361492.4_Frame_Shift_Del_p.FDA1512fs|GLI2_ENST00000314490.11_Intron	p.FDA1512fs			P10070	GLI2_HUMAN			14	4596_4600	+	Renal(3;0.0496)	Prostate(154;0.0623)	1512						Frame_Shift_Del	DEL	ENST00000452319.1	37	c.4536_4540delCGATG	CCDS33283.1																																																																																				0.629	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		74	197						74	197	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190332193	190332194	+	Splice_Site	INS	-	-	A			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr2:190332193_190332194insA	ENST00000314761.4	+	14	1507_1508		c.e14-1			NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75							nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TATTTCCACAGAAAAAGCTGTT	0.391																																						ENST00000314761.4																			0				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25						c.e14-1		WD repeat domain 75																																				SO:0001630	splice_region_variant	84128					nucleolus		g.chr2:190332193_190332194insA	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1448-1->A	2.37:g.190332198_190332198dupA								NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		14	1507_1508	+								Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Splice_Site	INS	ENST00000314761.4	37		CCDS2298.1																																																																																				0.391	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168	Intron	31	107						31	107	---	---	---	---
KBTBD12	166348	broad.mit.edu	37	3	127642211	127642218	+	Frame_Shift_Del	DEL	ACTGTAGC	ACTGTAGC	-	rs374489338		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr3:127642211_127642218delACTGTAGC	ENST00000405109.1	+	2	774_781	c.307_314delACTGTAGC	c.(307-315)actgtagctfs	p.TVA103fs	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000343941.4_5'Flank|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.TVA103fs			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	103										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CAATGTACAGACTGTAGCTATGGCTGCC	0.38																																						ENST00000405109.1																			0				endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						c.(307-315)tfs		kelch repeat and BTB (POZ) domain containing 12																																				SO:0001589	frameshift_variant	166348							g.chr3:127642211_127642218delACTGTAGC		CCDS33848.2	3q21.3	2013-01-08	2009-10-01	2009-10-01	ENSG00000187715	ENSG00000187715		"""BTB/POZ domain containing"""	25731	protein-coding gene	gene with protein product			"""kelch domain containing 6"""	KLHDC6			Standard	NM_207335		Approved	FLJ46299	uc010hsr.3	Q3ZCT8	OTTHUMG00000150508	ENST00000405109.1:c.307_314delACTGTAGC	3.37:g.127642211_127642218delACTGTAGC	ENSP00000385957:p.Thr103fs					KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Frame_Shift_Del_p.TVA103fs	p.TVA103fs			Q3ZCT8	KBTBC_HUMAN			2	774_781	+			103					B5MCC6|Q6ZRK1	Frame_Shift_Del	DEL	ENST00000405109.1	37	c.307_314delACTGTAGC	CCDS33848.2																																																																																				0.380	KBTBD12-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318682.1	NM_207335		9	25						9	25	---	---	---	---
NSD1	64324	broad.mit.edu	37	5	176687015	176687017	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr5:176687015_176687017delTCC	ENST00000439151.2	+	14	5037_5039	c.4992_4994delTCC	c.(4990-4995)tgtcct>tgt	p.P1665del	NSD1_ENST00000347982.4_In_Frame_Del_p.P1396del|NSD1_ENST00000354179.4_In_Frame_Del_p.P1396del|NSD1_ENST00000361032.4_In_Frame_Del_p.P1562del	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1665					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	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)|Epithelial(233;0.198)	Kidney(146;0.235)		GTGTCCGCTGTCCTGTGGCATAC	0.438			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4990-4995)tgt>tg		nuclear receptor binding SET domain protein 1																																				SO:0001651	inframe_deletion	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687015_176687017delTCC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4992_4994delTCC	5.37:g.176687015_176687017delTCC	ENSP00000395929:p.Pro1665del	HNSCC(47;0.14)				NSD1_ENST00000354179.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000347982.4_In_Frame_Del_p.CP1395del|NSD1_ENST00000361032.4_In_Frame_Del_p.CP1561del	p.CP1664del	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5037_5039	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1664					Q96PD8|Q96RN7	In_Frame_Del	DEL	ENST00000439151.2	37	c.4992_4994delTCC	CCDS4412.1																																																																																				0.438	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		93	65						93	65	---	---	---	---
THEMIS	387357	broad.mit.edu	37	6	128134040	128134040	+	Frame_Shift_Del	DEL	G	G	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr6:128134040delG	ENST00000368248.2	-	4	1894	c.1746delC	c.(1744-1746)cccfs	p.P582fs	THEMIS_ENST00000543064.1_Frame_Shift_Del_p.P582fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.P547fs|THEMIS_ENST00000368250.1_Frame_Shift_Del_p.P503fs	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	582					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TGGGAGACTTGGGCAGGTCTA	0.478																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1507-1509)ccfs		thymocyte selection associated							158.0	160.0	159.0					6																	128134040		2203	4300	6503	SO:0001589	frameshift_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134040delG	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1746delC	6.37:g.128134040delG	ENSP00000357231:p.Pro582fs					THEMIS_ENST00000543064.1_Frame_Shift_Del_p.P582fs|THEMIS_ENST00000537166.1_Frame_Shift_Del_p.P547fs|THEMIS_ENST00000368248.2_Frame_Shift_Del_p.P582fs	p.P503fs			Q8N1K5	THMS1_HUMAN			5	2007	-			582			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Frame_Shift_Del	DEL	ENST00000368248.2	37	c.1509delC	CCDS34534.1																																																																																				0.478	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		54	201						54	201	---	---	---	---
BHLHE22	27319	broad.mit.edu	37	8	65493617	65493618	+	In_Frame_Ins	INS	-	-	GGC	rs544639534	byFrequency	TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr8:65493617_65493618insGGC	ENST00000321870.1	+	1	804_805	c.270_271insGGC	c.(271-273)ggc>GGCggc	p.91_91G>GG	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	91	Gly-rich.				anterior commissure morphogenesis (GO:0021960)|cerebral cortex regionalization (GO:0021796)|corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|retinal bipolar neuron differentiation (GO:0060040)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcgcgggaagtggcggcggcgg	0.782														385	0.076877	0.1475	0.0634	5008	,	,		7150	0.005		0.1223	False		,,,				2504	0.0184				Colon(113;104 1586 2865 9855 18065)	ENST00000321870.1																			0				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						c.(268-273)aggcgg>agGGCgcgg		basic helix-loop-helix family, member e22																																				SO:0001652	inframe_insertion	27319				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr8:65493617_65493618insGGC	U80755	CCDS6179.1	8q12.1	2009-01-12	2009-01-12	2009-01-12		ENSG00000180828		"""Basic helix-loop-helix proteins"""	11963	protein-coding gene	gene with protein product		613483	"""trinucleotide repeat containing 20"", ""basic helix-loop-helix domain containing, class B, 5"""	TNRC20, BHLHB5		9225980, 12213201, 18557763	Standard	NM_152414		Approved	CAGL85, Beta3, bHLHe22	uc003xvi.3	Q8NFJ8		ENST00000321870.1:c.286_288dupGGC	8.37:g.65493624_65493626dupGGC	ENSP00000318799:p.Gly97dup					RP11-21C4.1_ENST00000517909.1_RNA	p.90_91RR>RAR	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN			1	804_805	+			90			Gly-rich.			In_Frame_Ins	INS	ENST00000321870.1	37	c.270_271insGGC	CCDS6179.1																																																																																				0.782	BHLHE22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378549.1	NM_152414		2	4						2	4	---	---	---	---
CELP	1057	broad.mit.edu	37	9	135962494	135962494	+	RNA	DEL	C	C	-	rs371110017|rs386739105|rs386739104|rs370277311		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr9:135962494delC	ENST00000411440.2	+	0	1001					NR_001275.2				carboxyl ester lipase pseudogene																		TCTGAGGCTGCCCCCGTGTCC	0.677																																						ENST00000411440.2																			0																																																			1057							g.chr9:135962494delC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962494delC								NR_001275.2						0	1001	+									RNA	DEL	ENST00000411440.2	37																																																																																						0.677	CELP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000339837.1	NM_001808		5	3						5	3	---	---	---	---
FRG2B	441581	broad.mit.edu	37	10	135438982	135438991	+	Frame_Shift_Del	DEL	GTGCAAGCCC	GTGCAAGCCC	-	rs200159992		TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr10:135438982_135438991delGTGCAAGCCC	ENST00000425520.1	-	4	501_510	c.449_458delGGGCTTGCAC	c.(448-459)agggcttgcactfs	p.RACT150fs	FRG2B_ENST00000443774.1_Frame_Shift_Del_p.RACT151fs	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	150						nucleus (GO:0005634)		p.R151M(1)		endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GCTGCGCCCAGTGCAAGCCCTGGAACGTCC	0.529																																						ENST00000443774.1																			1	Substitution - Missense(1)	p.R151M(1)	lung(1)	endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(451-462)atfs		FSHD region gene 2 family, member B																																				SO:0001589	frameshift_variant	441581					nucleus		g.chr10:135438982_135438991delGTGCAAGCCC	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.449_458delGGGCTTGCAC	10.37:g.135438982_135438991delGTGCAAGCCC	ENSP00000401310:p.Arg150fs					FRG2B_ENST00000425520.1_Frame_Shift_Del_p.RACT150fs	p.RACT151fs			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	4	501_510	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	150					Q5VSQ1	Frame_Shift_Del	DEL	ENST00000425520.1	37	c.452_461delGGGCTTGCAC	CCDS44502.1																																																																																				0.529	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		26	208						26	208	---	---	---	---
SMG1P3	100271836	broad.mit.edu	37	16	21469994	21469994	+	RNA	DEL	A	A	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr16:21469994delA	ENST00000520823.2	-	0	749				snoU13_ENST00000459321.1_RNA																							ACTGTACATTAAAAAAAAAAA	0.294																																						ENST00000520823.2																			0																																																			100271836							g.chr16:21469994delA																													16.37:g.21469994delA														0	749	-									RNA	DEL	ENST00000520823.2	37																																																																																						0.294	CTD-2547E10.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000378302.2			3	5						3	5	---	---	---	---
RAD23A	5886	broad.mit.edu	37	19	13058677	13058691	+	In_Frame_Del	DEL	GAGAAGATAGAAGCT	GAGAAGATAGAAGCT	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:13058677_13058691delGAGAAGATAGAAGCT	ENST00000586534.1	+	2	149_163	c.88_102delGAGAAGATAGAAGCT	c.(88-102)gagaagatagaagctdel	p.EKIEA30del	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000316856.3_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000588826.2_3'UTR			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	30	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				nucleotide-excision repair (GO:0006289)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)|ubiquitin-specific protease binding (GO:1990381)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						GGTGCTAAAGGAGAAGATAGAAGCTGAGAAGGGTC	0.512								Nucleotide excision repair (NER)																														ENST00000586534.1																			0				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						c.(88-102)del	Nucleotide excision repair (NER)	RAD23 homolog A (S. cerevisiae)																																				SO:0001651	inframe_deletion	5886				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding	g.chr19:13058677_13058691delGAGAAGATAGAAGCT		CCDS12289.1, CCDS59357.1, CCDS59358.1	19p13.2	2008-07-17	2001-11-28			ENSG00000179262			9812	protein-coding gene	gene with protein product	"""RAD23, yeast homolog, A"""	600061	"""RAD23 (S. cerevisiae) homolog A"""			7851894	Standard	NM_005053		Approved	HHR23A, MGC111083	uc002mvw.2	P54725		ENST00000586534.1:c.88_102delGAGAAGATAGAAGCT	19.37:g.13058677_13058691delGAGAAGATAGAAGCT	ENSP00000467024:p.Glu30_Ala34del					RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000592268.1_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000316856.3_In_Frame_Del_p.EKIEA30del|RAD23A_ENST00000588826.2_3'UTR	p.EKIEA30del			P54725	RD23A_HUMAN			2	149_163	+			30			Ubiquitin-like.		K7ESE3|Q59EU8|Q5M7Z1	In_Frame_Del	DEL	ENST00000586534.1	37	c.88_102delGAGAAGATAGAAGCT	CCDS12289.1																																																																																				0.512	RAD23A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452752.1	NM_005053		14	115						14	115	---	---	---	---
ANO8	57719	broad.mit.edu	37	19	17434359	17434364	+	In_Frame_Del	DEL	GGGGCT	GGGGCT	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chr19:17434359_17434364delGGGGCT	ENST00000159087.4	-	18	3819_3824	c.3661_3666delAGCCCC	c.(3661-3666)agccccdel	p.SP1221del		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	1221	Pro-rich.				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)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						ACACGGCCTGggggctggggctgggg	0.675																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(3661-3666)del		anoctamin 8																																				SO:0001651	inframe_deletion	57719					chloride channel complex	chloride channel activity	g.chr19:17434359_17434364delGGGGCT	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.3661_3666delAGCCCC	19.37:g.17434365_17434370delGGGGCT	ENSP00000159087:p.Ser1221_Pro1222del						p.SP1221del	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			18	3819_3824	-			1221			Pro-rich.		A6NIJ0	In_Frame_Del	DEL	ENST00000159087.4	37	c.3661_3666delAGCCCC	CCDS32949.1																																																																																				0.675	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		15	42						15	42	---	---	---	---
CD40LG	959	broad.mit.edu	37	X	135741255	135741255	+	Frame_Shift_Del	DEL	A	A	-			TCGA-H7-A6C5-01A-11D-A30E-08	TCGA-H7-A6C5-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ceb02fd7-fb8e-4da7-b150-a70411266f97	1f0eb39b-306d-47f7-be4f-1b63042c12e3	g.chrX:135741255delA	ENST00000370629.2	+	5	523	c.467delA	c.(466-468)gaafs	p.E156fs	CD40LG_ENST00000370628.2_Frame_Shift_Del_p.E135fs	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	156					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					GTAACCCTGGAAAATGGGAAA	0.438									Immune Deficiency with Hyper-IgM																													ENST00000370629.2																			0				endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26						c.(466-468)gafs		CD40 ligand	Atorvastatin(DB01076)						229.0	231.0	230.0					X																	135741255		2203	4300	6503	SO:0001589	frameshift_variant	959	Immune Deficiency with Hyper-IgM	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding	g.chrX:135741255delA	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.467delA	X.37:g.135741255delA	ENSP00000359663:p.Glu156fs					CD40LG_ENST00000370628.2_Frame_Shift_Del_p.E135fs	p.E156fs	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN			5	523	+	Acute lymphoblastic leukemia(192;0.000127)		156						Frame_Shift_Del	DEL	ENST00000370629.2	37	c.467delA	CCDS14659.1																																																																																				0.438	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058501.1	NM_000074		14	465						14	465	---	---	---	---
