#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
ZNF207	7756	broad.mit.edu	37	17	30678932	30678932	+	Splice_Site	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:30678932G>T	ENST00000321233.6	+	2	322		c.e2+1		RP11-227G15.3_ENST00000581915.1_RNA|MIR632_ENST00000385193.1_RNA|ZNF207_ENST00000394670.4_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000394673.2_Splice_Site|ZNF207_ENST00000342555.6_Splice_Site	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207						attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TTGCATGCAGGTAAGGATTTT	0.348																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.e2+1		zinc finger protein 207							84.0	79.0	81.0					17																	30678932		2203	4300	6503	SO:0001630	splice_region_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30678932G>T	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.168+1G>T	17.37:g.30678932G>T						ZNF207_ENST00000321233.6_Splice_Site|ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000342555.6_Splice_Site|ZNF207_ENST00000394673.2_Splice_Site|ZNF207_ENST00000577908.1_Splice_Site|RP11-227G15.3_ENST00000581915.1_RNA		NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		2	337	+		Breast(31;0.116)|Ovarian(249;0.182)						A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Splice_Site	SNP	ENST00000321233.6	37		CCDS11271.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.369485	0.82463	.	.	ENSG00000010244	ENST00000394670;ENST00000394673;ENST00000394679;ENST00000321233;ENST00000342555	.	.	.	4.55	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7036	0.88302	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF207	27703045	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.869000	0.99810	2.249000	0.74217	0.655000	0.94253	.		0.348	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2		Intron	5	237	1	0	1.23904e-05	1	1.30018e-05	5	237				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		8	412	0	0	0	1	0	8	412				
TIAM1	7074	broad.mit.edu	37	21	32502566	32502566	+	Missense_Mutation	SNP	G	G	A	rs372961799		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:32502566G>A	ENST00000286827.3	-	26	4481	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	TIAM1_ENST00000541036.1_Missense_Mutation_p.T1277M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1337	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGCGCTTCCGTGGGGATCAT	0.483																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4009-4011)aCg>aTg		T-cell lymphoma invasion and metastasis 1		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	181.0	178.0	179.0		4010	6.0	0.3	21		179	0,8600		0,0,4300	no	missense	TIAM1	NM_003253.2	81	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	1337/1592	32502566	2,13004	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32502566G>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4010C>T	21.37:g.32502566G>A	ENSP00000286827:p.Thr1337Met					TIAM1_ENST00000541036.1_Missense_Mutation_p.T1277M	p.T1337M	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			26	4481	-			1337			PH 2.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4010C>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.604313	0.46423	4.54E-4	0.0	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.44482	0.92;0.94	6.03	6.03	0.97812	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.111603	0.64402	D	0.000013	T	0.36991	0.0987	M	0.63428	1.95	0.51233	D	0.999915	P;P;P	0.49185	0.92;0.869;0.869	B;B;B	0.36567	0.228;0.114;0.114	T	0.29971	-0.9994	10	0.42905	T	0.14	.	11.4504	0.50149	0.1069:0.0:0.8931:0.0	.	1277;1277;1337	F5GZ53;B7ZLR6;Q13009	.;.;TIAM1_HUMAN	M	1337;1277	ENSP00000286827:T1337M;ENSP00000441570:T1277M	ENSP00000286827:T1337M	T	-	2	0	TIAM1	31424437	1.000000	0.71417	0.262000	0.24481	0.653000	0.38743	7.331000	0.79192	2.854000	0.98071	0.655000	0.94253	ACG		0.483	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		6	711	0	0	0	1	0	6	711				
VAV1	7409	broad.mit.edu	37	19	6853988	6853988	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:6853988A>T	ENST00000602142.1	+	26	2445	c.2363A>T	c.(2362-2364)aAa>aTa	p.K788I	VAV1_ENST00000539284.1_Missense_Mutation_p.K691I|VAV1_ENST00000304076.2_Missense_Mutation_p.K766I|VAV1_ENST00000599806.1_Missense_Mutation_p.K733I|VAV1_ENST00000596764.1_Missense_Mutation_p.K756I	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	788	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GGCACAGCCAAAGCCCGCTAT	0.542																																						ENST00000304076.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(2296-2298)aAa>aTa		vav 1 guanine nucleotide exchange factor							102.0	95.0	98.0					19																	6853988		2203	4300	6503	SO:0001583	missense	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6853988A>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.2363A>T	19.37:g.6853988A>T	ENSP00000472929:p.Lys788Ile					VAV1_ENST00000599806.1_Missense_Mutation_p.K733I|VAV1_ENST00000596764.1_Missense_Mutation_p.K756I|VAV1_ENST00000539284.1_Missense_Mutation_p.K691I|VAV1_ENST00000602142.1_Missense_Mutation_p.K788I	p.K766I	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN			25	2391	+			788					B4DVK9|M0QXX6|Q15860	Missense_Mutation	SNP	ENST00000602142.1	37	c.2297A>T	CCDS12174.1	.	.	.	.	.	.	.	.	.	.	A	9.596	1.127410	0.20959	.	.	ENSG00000141968	ENST00000304076;ENST00000539284	T;T	0.47528	0.84;0.86	4.35	4.35	0.52113	Src homology-3 domain (5);	0.060238	0.64402	D	0.000006	T	0.41396	0.1157	N	0.13140	0.3	0.38931	D	0.957942	D;D;B;B	0.60575	0.973;0.988;0.003;0.005	P;P;B;B	0.60682	0.786;0.878;0.01;0.015	T	0.34329	-0.9833	10	0.27082	T	0.32	.	6.4128	0.21700	0.8919:0.0:0.1081:0.0	.	691;788;733;788	F5H5P4;B2R8B5;Q96D37;P15498	.;.;.;VAV_HUMAN	I	788;691	ENSP00000302269:K788I;ENSP00000443242:K691I	ENSP00000302269:K788I	K	+	2	0	VAV1	6804988	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.158000	0.50723	1.847000	0.53656	0.459000	0.35465	AAA		0.542	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1			47	556	0	0	0	1	0	47	556				
ZNF43	7594	broad.mit.edu	37	19	21990830	21990830	+	Missense_Mutation	SNP	A	A	C	rs199855387		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:21990830A>C	ENST00000354959.4	-	4	2178	c.2009T>G	c.(2008-2010)aTa>aGa	p.I670R	ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000594012.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	670					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGTATGAATTATCTTATGTTT	0.368																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1990-1992)aTa>aGa		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990830A>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2009T>G	19.37:g.21990830A>C	ENSP00000347045:p.Ile670Arg					ZNF43_ENST00000354959.4_Missense_Mutation_p.I670R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R	p.I664R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2505	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	670					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1991T>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.634793	0.00007	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.12465	2.68	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00133	-2.03	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.33752	-0.9856	9	0.02654	T	1	.	4.0493	0.09788	0.179:0.591:0.0:0.23	.	670	P17038	ZNF43_HUMAN	R	669;670	ENSP00000347045:I670R	ENSP00000347045:I670R	I	-	2	0	ZNF43	21782670	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-3.559000	0.00431	-1.192000	0.02691	-1.026000	0.02426	ATA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	397	0	0	0	1	0	6	397				
EXOC6B	23233	broad.mit.edu	37	2	72411216	72411216	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:72411216G>A	ENST00000272427.6	-	21	2427	c.2297C>T	c.(2296-2298)aCc>aTc	p.T766I	EXOC6B_ENST00000490919.1_5'UTR	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	766					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						CTCAAGCAGGGTCAGAGCAGT	0.507																																						ENST00000272427.6																			0				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						c.(2296-2298)aCc>aTc		exocyst complex component 6B							44.0	43.0	43.0					2																	72411216		1945	4133	6078	SO:0001583	missense	23233				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr2:72411216G>A	AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.2297C>T	2.37:g.72411216G>A	ENSP00000272427:p.Thr766Ile					EXOC6B_ENST00000490919.1_5'UTR	p.T766I	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN			21	2427	-			766					B8ZZY3	Missense_Mutation	SNP	ENST00000272427.6	37	c.2297C>T	CCDS46333.1	.	.	.	.	.	.	.	.	.	.	G	9.699	1.153955	0.21371	.	.	ENSG00000144036	ENST00000272427	T	0.27890	1.64	5.75	5.75	0.90469	.	.	.	.	.	T	0.14570	0.0352	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18023	-1.0350	9	0.10377	T	0.69	.	8.9666	0.35881	0.1552:0.0:0.8448:0.0	.	766	Q9Y2D4	EXC6B_HUMAN	I	766	ENSP00000272427:T766I	ENSP00000272427:T766I	T	-	2	0	EXOC6B	72264724	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.903000	0.48711	2.716000	0.92895	0.655000	0.94253	ACC		0.507	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327558.1	XM_039570		3	16	0	0	0	1	0	3	16				
ZC3H7B	23264	broad.mit.edu	37	22	41739536	41739536	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:41739536G>A	ENST00000352645.4	+	13	1672	c.1415G>A	c.(1414-1416)cGg>cAg	p.R472Q	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R472Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	488					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ATCCGGCCCCGGCCCACTAAG	0.682																																						ENST00000352645.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						c.(1414-1416)cGg>cAg		zinc finger CCCH-type containing 7B							23.0	25.0	24.0					22																	41739536		2203	4298	6501	SO:0001583	missense	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41739536G>A		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.1415G>A	22.37:g.41739536G>A	ENSP00000345793:p.Arg472Gln					ZC3H7B_ENST00000351589.4_Missense_Mutation_p.R472Q	p.R472Q	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN			13	1672	+			488					A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Missense_Mutation	SNP	ENST00000352645.4	37	c.1415G>A	CCDS14013.1	.	.	.	.	.	.	.	.	.	.	G	36	5.944632	0.97134	.	.	ENSG00000100403	ENST00000352645;ENST00000351589	T;T	0.16457	2.34;2.34	5.58	5.58	0.84498	.	0.111269	0.64402	N	0.000009	T	0.41534	0.1163	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.78314	0.991	T	0.13656	-1.0501	10	0.72032	D	0.01	-30.3364	19.5687	0.95404	0.0:0.0:1.0:0.0	.	472	Q9UGR2-2	.	Q	472	ENSP00000345793:R472Q;ENSP00000263243:R472Q	ENSP00000263243:R472Q	R	+	2	0	ZC3H7B	40069482	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.790000	0.99075	2.640000	0.89533	0.491000	0.48974	CGG		0.682	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		11	142	0	0	0	1	0	11	142				
ZNF595	152687	broad.mit.edu	37	4	59339	59339	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:59339G>A	ENST00000509152.2	+	2	205	c.20G>A	c.(19-21)aGg>aAg	p.R7K	ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	7	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)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GTAACATTCAGGGATGTGGCC	0.418																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(19-21)aGg>aAg		zinc finger protein 595							357.0	384.0	375.0					4																	59339		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59339G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.20G>A	4.37:g.59339G>A	ENSP00000434858:p.Arg7Lys					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.R7K	p.R7K						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	205	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.20G>A		.	.	.	.	.	.	.	.	.	.	G	10.81	1.454703	0.26161	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.01369	4.97;4.97	1.26	-0.985	0.10256	Krueppel-associated box (4);	.	.	.	.	T	0.02012	0.0063	.	.	.	0.21967	N	0.999441	P	0.40144	0.704	P	0.45071	0.468	T	0.44757	-0.9307	8	0.62326	D	0.03	.	4.7376	0.12995	0.6636:0.0:0.3364:0.0	.	7	Q8IYB9	ZN595_HUMAN	K	7	ENSP00000434858:R7K;ENSP00000437878:R7K	ENSP00000434858:R7K	R	+	2	0	ZNF595	49339	0.629000	0.27146	0.486000	0.27416	0.195000	0.23768	-0.561000	0.05957	-0.176000	0.10707	-0.350000	0.07774	AGG		0.418	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		41	1688	0	0	0	1	0	41	1688				
GLIS3	169792	broad.mit.edu	37	9	3829444	3829444	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:3829444G>C	ENST00000324333.10	-	9	2250	c.2057C>G	c.(2056-2058)tCc>tGc	p.S686C	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S841C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	686					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AATTCTCTGGGAATCGGGGTA	0.532																																						ENST00000324333.10																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26						c.(2056-2058)tCc>tGc		GLIS family zinc finger 3							97.0	82.0	87.0					9																	3829444		2203	4300	6503	SO:0001583	missense	169792				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	g.chr9:3829444G>C	BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.2057C>G	9.37:g.3829444G>C	ENSP00000325494:p.Ser686Cys					GLIS3_ENST00000381971.3_Missense_Mutation_p.S841C|GLIS3_ENST00000461870.1_5'UTR	p.S686C	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)	9	2250	-		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)	686					B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	c.2057C>G	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	g	13.44	2.237057	0.39498	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	T;T	0.11063	2.84;2.81	5.92	5.01	0.66863	.	0.129747	0.33419	N	0.004924	T	0.15912	0.0383	L	0.27053	0.805	0.30241	N	0.795045	D;D;D	0.63046	0.992;0.984;0.988	P;P;P	0.56216	0.794;0.724;0.635	T	0.02736	-1.1117	10	0.35671	T	0.21	.	14.3854	0.66940	0.0:0.0:0.7312:0.2688	.	281;841;686	Q59FQ6;Q8NEA6-2;Q8NEA6	.;.;GLIS3_HUMAN	C	686;841	ENSP00000325494:S686C;ENSP00000371398:S841C	ENSP00000325494:S686C	S	-	2	0	GLIS3	3819444	1.000000	0.71417	0.996000	0.52242	0.373000	0.29922	5.230000	0.65321	1.470000	0.48102	0.557000	0.71058	TCC		0.532	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629		16	251	0	0	0	1	0	16	251				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			0							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			5	273	0	0	0	1	0	5	273				
UBQLNL	143630	broad.mit.edu	37	11	5536585	5536585	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:5536585T>C	ENST00000380184.1	-	1	1350	c.1087A>G	c.(1087-1089)Att>Gtt	p.I363V	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	363										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGGTGGAAATCATAGCAGTG	0.488																																						ENST00000380184.1																			0				endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1087-1089)Att>Gtt		ubiquilin-like							233.0	231.0	232.0					11																	5536585		2201	4297	6498	SO:0001583	missense	143630							g.chr11:5536585T>C	AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.1087A>G	11.37:g.5536585T>C	ENSP00000369531:p.Ile363Val					HBG2_ENST00000380259.2_Intron	p.I363V	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)	1	1350	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	363					Q6ZRU1|Q96EK3|Q96MB0	Missense_Mutation	SNP	ENST00000380184.1	37	c.1087A>G	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.978713	0.00448	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	T	0.45276	0.9	5.09	-1.17	0.09648	.	1.997390	0.02498	N	0.090160	T	0.28896	0.0717	N	0.25647	0.755	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.15065	-1.0450	10	0.10902	T	0.67	.	8.968	0.35887	0.0:0.5708:0.0:0.4292	.	363	Q8IYU4	UBQLN_HUMAN	V	363;148	ENSP00000369531:I363V	ENSP00000369531:I363V	I	-	1	0	UBQLNL	5493161	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.032000	0.12266	-0.117000	0.11872	0.533000	0.62120	ATT		0.488	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1	NM_145053		68	391	0	0	0	1	0	68	391				
AHNAK	79026	broad.mit.edu	37	11	62296384	62296384	+	Silent	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:62296384A>G	ENST00000378024.4	-	5	5779	c.5505T>C	c.(5503-5505)gaT>gaC	p.D1835D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1835					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACTTTGCATCAGGACACT	0.522																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5503-5505)gaT>gaC		AHNAK nucleoprotein							173.0	177.0	175.0					11																	62296384		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62296384A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5505T>C	11.37:g.62296384A>G						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.D1835D	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5779	-		Melanoma(852;0.155)	1835					A1A586	Silent	SNP	ENST00000378024.4	37	c.5505T>C	CCDS31584.1																																																																																				0.522	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		9	1045	0	0	0	1	0	9	1045				
CRTAM	56253	broad.mit.edu	37	11	122726507	122726507	+	Nonsense_Mutation	SNP	C	C	T	rs533016781		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:122726507C>T	ENST00000227348.4	+	5	642	c.595C>T	c.(595-597)Cga>Tga	p.R199*		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGCATTATCCGACACAGAGG	0.393																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(595-597)Cga>Tga		cytotoxic and regulatory T cell molecule							99.0	95.0	97.0					11																	122726507		2202	4299	6501	SO:0001587	stop_gained	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726507C>T	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.595C>T	11.37:g.122726507C>T	ENSP00000227348:p.Arg199*						p.R199*	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	642	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	199			Ig-like C2-type.			Nonsense_Mutation	SNP	ENST00000227348.4	37	c.595C>T	CCDS8437.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299035	0.81025	.	.	ENSG00000109943	ENST00000227348	.	.	.	4.86	3.95	0.45737	.	0.447093	0.20907	N	0.083538	.	.	.	.	.	.	0.20563	N	0.999883	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.3935	0.26923	0.1661:0.7463:0.0:0.0876	.	.	.	.	X	199	.	ENSP00000227348:R199X	R	+	1	2	CRTAM	122231717	0.888000	0.30383	0.027000	0.17364	0.136000	0.21042	2.240000	0.43088	1.180000	0.42898	0.462000	0.41574	CGA		0.393	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		116	153	0	0	0	1	0	116	153				
C17orf97	400566	broad.mit.edu	37	17	263712	263712	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:263712G>A	ENST00000360127.6	+	2	1094	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	390	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCCGACCCCGAGGCCCTCAA	0.682																																						ENST00000360127.6																			0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1078-1080)Gag>Aag		chromosome 17 open reading frame 97																																				SO:0001583	missense	400566							g.chr17:263712G>A	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1078G>A	17.37:g.263712G>A	ENSP00000353245:p.Glu360Lys					AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.E360K	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1094	+			390			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Missense_Mutation	SNP	ENST00000360127.6	37	c.1078G>A	CCDS32519.2	.	.	.	.	.	.	.	.	.	.	G	3.638	-0.074229	0.07184	.	.	ENSG00000187624	ENST00000360127	T	0.29917	1.55	1.14	-2.28	0.06826	.	.	.	.	.	T	0.09949	0.0244	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.06405	0.002	T	0.28902	-1.0029	9	0.06757	T	0.87	.	3.5702	0.07914	0.495:0.2065:0.2986:0.0	.	360	Q6ZQX7-4	.	K	360	ENSP00000353245:E360K	ENSP00000353245:E360K	E	+	1	0	C17orf97	264058	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-1.370000	0.02144	0.205000	0.17691	GAG		0.682	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		5	415	0	0	0	1	0	5	415				
C22orf42	150297	broad.mit.edu	37	22	32546430	32546430	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:32546430C>G	ENST00000382097.3	-	7	602	c.530G>C	c.(529-531)tGt>tCt	p.C177S	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	177										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GTCTTCAAGACAGACAGATAG	0.463																																						ENST00000382097.3																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						c.(529-531)tGt>tCt		chromosome 22 open reading frame 42							126.0	111.0	116.0					22																	32546430		2203	4300	6503	SO:0001583	missense	150297							g.chr22:32546430C>G	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.530G>C	22.37:g.32546430C>G	ENSP00000371529:p.Cys177Ser						p.C177S	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN			7	602	-			177					A4QPH5	Missense_Mutation	SNP	ENST00000382097.3	37	c.530G>C	CCDS33639.1	.	.	.	.	.	.	.	.	.	.	c	2.431	-0.330807	0.05314	.	.	ENSG00000205856	ENST00000382097	T	0.20881	2.04	.	.	.	.	.	.	.	.	T	0.10637	0.0260	N	0.08118	0	0.09310	N	1	P	0.37500	0.597	B	0.39119	0.291	T	0.23226	-1.0194	7	0.87932	D	0	.	.	.	.	.	177	Q6IC83	CV042_HUMAN	S	177	ENSP00000371529:C177S	ENSP00000371529:C177S	C	-	2	0	C22orf42	30876430	0.010000	0.17322	0.023000	0.16930	0.108000	0.19459	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	TGT		0.463	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		6	588	0	0	0	1	0	6	588				
WASH4P	374677	broad.mit.edu	37	16	66940	66940	+	Silent	SNP	G	G	A	rs200079147		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:66940G>A	ENST00000326592.9	-	5	1354	c.696C>T	c.(694-696)agC>agT	p.S232S	Z84812.4_ENST00000568710.1_RNA|DDX11L10_ENST00000513886.1_RNA			A8MWX3	WASH4_HUMAN	WAS protein family homolog 4 pseudogene	232					Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.S232S(1)									GCTCTCTCTTGCTGATGGACA	0.597																																						ENST00000326592.9																			1	Substitution - coding silent(1)	p.S232S(1)	kidney(1)								c.(694-696)agC>agT																																						SO:0001819	synonymous_variant	0							g.chr16:66940G>A			16p13.3	2014-08-28	2008-01-16	2008-01-16	ENSG00000234769	ENSG00000234769		"""WAS protein homologs"""	14126	other	unknown			"""family with sequence similarity 39, member C pseudogene"""	FAM39CP		9054936, 11701968, 18159949	Standard	NG_003159		Approved	FLJ31670		A8MWX3	OTTHUMG00000059914	ENST00000326592.9:c.696C>T	16.37:g.66940G>A							p.S232S							5	1354	-									Silent	SNP	ENST00000326592.9	37	c.696C>T																																																																																					0.597	WASH4P-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000133175.2	NG_003159		10	167	0	0	0	1	0	10	167				
ZNF17	7565	broad.mit.edu	37	19	57931756	57931756	+	Missense_Mutation	SNP	C	C	T	rs376983619		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:57931756C>T	ENST00000601808.1	+	3	1109	c.896C>T	c.(895-897)cCa>cTa	p.P299L	ZNF17_ENST00000307658.7_Missense_Mutation_p.P301L|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		CACACCAGGCCAAGGCCTTAT	0.468																																					Melanoma(149;1637 1853 29914 42869 44988)	ENST00000307658.7																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(901-903)cCa>cTa		zinc finger protein 17		C	LEU/PRO	1,4403	2.1+/-5.4	0,1,2201	73.0	77.0	76.0		896	-3.3	0.0	19		76	0,8600		0,0,4300	no	missense	ZNF17	NM_006959.2	98	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	benign	299/663	57931756	1,13003	2202	4300	6502	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931756C>T	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.896C>T	19.37:g.57931756C>T	ENSP00000471905:p.Pro299Leu					ZNF17_ENST00000601808.1_Missense_Mutation_p.P299L|AC004076.7_ENST00000597410.1_Intron	p.P301L			P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	4	1165	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	299					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.902C>T	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942441	0.53079	2.27E-4	0.0	ENSG00000186272	ENST00000307658	.	.	.	1.63	-3.27	0.05048	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17152	0.0412	N	0.17278	0.47	0.19300	N	0.99998	B;B	0.33266	0.108;0.404	B;B	0.27500	0.08;0.067	T	0.13150	-1.0520	8	0.87932	D	0	.	4.8578	0.13568	0.4931:0.2284:0.2785:0.0	.	301;299	P17021-2;P17021	.;ZNF17_HUMAN	L	299	.	ENSP00000302455:P299L	P	+	2	0	ZNF17	62623568	0.000000	0.05858	0.018000	0.16275	0.773000	0.43773	0.257000	0.18369	-0.844000	0.04184	0.650000	0.86243	CCA		0.468	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		28	449	0	0	0	1	0	28	449				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			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.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K|FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	506	0	0	0	1	0	10	506				
PSG9	5678	broad.mit.edu	37	19	43766286	43766286	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:43766286C>T	ENST00000270077.3	-	3	531	c.435G>A	c.(433-435)gaG>gaA	p.E145E	PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E145E|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000244293.7_Silent_p.E145E	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	145					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GCTTGGGAGTCTCCACTGTGC	0.527																																						ENST00000244293.7																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(433-435)gaG>gaA		pregnancy specific beta-1-glycoprotein 9							143.0	143.0	143.0					19																	43766286		2203	4300	6503	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43766286C>T	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.435G>A	19.37:g.43766286C>T						PSG9_ENST00000291752.5_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000270077.3_Silent_p.E145E|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Silent_p.E145E	p.E145E			Q00887	PSG9_HUMAN			3	501	-		Prostate(69;0.00682)	145					B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.435G>A	CCDS12618.1																																																																																				0.527	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	947	0	0	0	1	0	8	947				
SPATA31D5P	347127	broad.mit.edu	37	9	84532244	84532244	+	RNA	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:84532244G>A	ENST00000527857.1	+	0	2266					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGGGTCAGAGGTGCAATGTTC	0.448																																						ENST00000527857.1																			0																																																			0							g.chr9:84532244G>A			9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532244G>A								NR_026851.1						0	2266	+									RNA	SNP	ENST00000527857.1	37																																																																																						0.448	SPATA31D5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000052810.2	NR_026851		14	134	0	0	0	1	0	14	134				
NRXN1	9378	broad.mit.edu	37	2	50724643	50724643	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:50724643T>C	ENST00000406316.2	-	14	4183	c.2707A>G	c.(2707-2709)Ata>Gta	p.I903V	NRXN1_ENST00000405472.3_Missense_Mutation_p.I895V|NRXN1_ENST00000404971.1_Missense_Mutation_p.I943V|NRXN1_ENST00000401669.2_Missense_Mutation_p.I903V|NRXN1_ENST00000402717.3_Missense_Mutation_p.I895V|NRXN1_ENST00000401710.1_5'Flank|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.I903V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	903					adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GGATCTGCTATGATGTTCCTG	0.418																																						ENST00000404971.1																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58						c.(2827-2829)Ata>Gta		neurexin 1							128.0	119.0	122.0					2																	50724643		1979	4173	6152	SO:0001583	missense	9378				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	g.chr2:50724643T>C	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2707A>G	2.37:g.50724643T>C	ENSP00000384311:p.Ile903Val					NRXN1_ENST00000401669.2_Missense_Mutation_p.I903V|NRXN1_ENST00000405472.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406859.3_Missense_Mutation_p.I903V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.I895V|NRXN1_ENST00000406316.2_Missense_Mutation_p.I903V	p.I943V	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4166	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	903			Laminin G-like 5.		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.2827A>G	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	T	3.554	-0.091094	0.07053	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15;-1.15;-1.15	5.58	5.58	0.84498	.	0.096019	0.64402	D	0.000001	T	0.60599	0.2281	N	0.10874	0.06	0.26085	N	0.981035	B;B;B	0.15719	0.014;0.0;0.004	B;B;B	0.21546	0.035;0.001;0.005	T	0.35968	-0.9767	10	0.09843	T	0.71	.	15.9198	0.79552	0.0:0.0:0.0:1.0	.	943;903;895	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	943;903;895;903;944;895;903	ENSP00000385142:I943V;ENSP00000384311:I903V;ENSP00000434015:I895V;ENSP00000385017:I903V;ENSP00000385434:I895V;ENSP00000385681:I903V	ENSP00000385017:I903V	I	-	1	0	NRXN1	50578147	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.028000	0.57246	2.343000	0.79666	0.533000	0.62120	ATA		0.418	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			13	135	0	0	0	1	0	13	135				
STAT2	6773	broad.mit.edu	37	12	56742351	56742351	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:56742351C>G	ENST00000314128.4	-	19	1709	c.1686G>C	c.(1684-1686)gaG>gaC	p.E562D	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E558D			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	562					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CATGTACCAACTCCAGAATTT	0.532																																						ENST00000314128.4																			0				NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						c.(1684-1686)gaG>gaC		signal transducer and activator of transcription 2, 113kDa							131.0	107.0	115.0					12																	56742351		2203	4300	6503	SO:0001583	missense	6773				interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr12:56742351C>G	BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1686G>C	12.37:g.56742351C>G	ENSP00000315768:p.Glu562Asp					STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.E558D	p.E562D			P52630	STAT2_HUMAN			19	1709	-			562					B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	ENST00000314128.4	37	c.1686G>C	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	C	4.266	0.048518	0.08243	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	D;D	0.85702	-2.02;-2.02	5.49	-0.801	0.10893	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.578372	0.18226	N	0.147704	T	0.61110	0.2321	N	0.10972	0.075	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.003	T	0.46582	-0.9181	10	0.07030	T	0.85	-11.772	3.3108	0.07016	0.0819:0.3288:0.3011:0.2882	.	558;562	G3V2M6;P52630	.;STAT2_HUMAN	D	562;558	ENSP00000315768:E562D;ENSP00000450751:E558D	ENSP00000315768:E562D	E	-	3	2	STAT2	55028618	0.987000	0.35691	0.989000	0.46669	0.988000	0.76386	0.182000	0.16900	-0.111000	0.12001	-0.136000	0.14681	GAG		0.532	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1	NM_005419		203	230	0	0	0	1	0	203	230				
PRG4	10216	broad.mit.edu	37	1	186276168	186276168	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1315-1317)acC>acT		proteoglycan 4							77.0	84.0	82.0					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	313	0	0	0	1	0	5	313				
NMBR	4829	broad.mit.edu	37	6	142399897	142399897	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:142399897C>T	ENST00000258042.1	-	2	706	c.566G>A	c.(565-567)aGc>aAc	p.S189N	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	189					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		ATTATCCAAGCTACTGATGCG	0.483																																						ENST00000258042.1																			0				breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(565-567)aGc>aAc		neuromedin B receptor							138.0	132.0	134.0					6																	142399897		2203	4300	6503	SO:0001583	missense	4829				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	g.chr6:142399897C>T		CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.566G>A	6.37:g.142399897C>T	ENSP00000258042:p.Ser189Asn						p.S189N	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)	2	706	-	Breast(32;0.155)		189					E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	c.566G>A	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	1.970	-0.436761	0.04636	.	.	ENSG00000135577	ENST00000258042	T	0.71817	-0.6	5.48	3.69	0.42338	GPCR, rhodopsin-like superfamily (1);	0.714476	0.15197	N	0.275225	T	0.22166	0.0534	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.15122	-1.0448	10	0.17832	T	0.49	-4.402	5.304	0.15793	0.0:0.6117:0.0:0.3883	.	189	P28336	NMBR_HUMAN	N	189	ENSP00000258042:S189N	ENSP00000258042:S189N	S	-	2	0	NMBR	142441590	0.001000	0.12720	0.092000	0.20876	0.167000	0.22549	0.154000	0.16343	1.320000	0.45209	0.585000	0.79938	AGC		0.483	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			13	498	0	0	0	1	0	13	498				
CMTM8	152189	broad.mit.edu	37	3	32398865	32398865	+	Splice_Site	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:32398865G>T	ENST00000307526.3	+	2	442	c.148G>T	c.(148-150)Gtt>Ttt	p.V50F	CMTM8_ENST00000458535.2_Intron	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	50	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						CACTTTACAGGTTCTGGGGCT	0.448																																						ENST00000307526.3																			0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.e2-1		CKLF-like MARVEL transmembrane domain containing 8							139.0	132.0	135.0					3																	32398865		2203	4300	6503	SO:0001630	splice_region_variant	152189				chemotaxis	extracellular space|integral to membrane	cytokine activity	g.chr3:32398865G>T	AF474370	CCDS2652.1	3p22.2	2005-11-08	2005-11-08	2005-11-08	ENSG00000170293	ENSG00000170293			19179	protein-coding gene	gene with protein product		607891	"""chemokine-like factor super family 8"", ""chemokine-like factor superfamily 8"""	CKLFSF8			Standard	NM_178868		Approved		uc003cex.3	Q8IZV2	OTTHUMG00000130753	ENST00000307526.3:c.148-1G>T	3.37:g.32398865G>T						CMTM8_ENST00000458535.2_Intron	p.V50_splice	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN			2	442	+			50			MARVEL.		A5D6I7|Q8IW01	Splice_Site	SNP	ENST00000307526.3	37	c.147_splice	CCDS2652.1	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605684	0.46527	.	.	ENSG00000170293	ENST00000307526	T	0.32272	1.46	6.08	1.98	0.26296	Marvel (1);MARVEL-like domain (1);	0.357882	0.26341	N	0.024928	T	0.36303	0.0962	L	0.56280	1.765	0.50171	D	0.999856	P	0.51147	0.942	P	0.51487	0.671	T	0.03597	-1.1021	9	.	.	.	.	10.346	0.43906	0.499:0.0:0.501:0.0	.	50	Q8IZV2	CKLF8_HUMAN	F	50	ENSP00000307741:V50F	.	V	+	1	0	CMTM8	32373869	1.000000	0.71417	0.952000	0.39060	0.397000	0.30659	1.216000	0.32443	0.066000	0.16515	0.591000	0.81541	GTT		0.448	CMTM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253253.1	NM_178868	Missense_Mutation	46	528	1	0	3.28156e-27	1	3.73863e-27	46	528				
SYNJ1	8867	broad.mit.edu	37	21	34003517	34003517	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:34003517G>A	ENST00000322229.7	-	31	4509	c.4510C>T	c.(4510-4512)Ctg>Ttg	p.L1504L	SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000433931.2_Silent_p.L1543L|SYNJ1_ENST00000382491.3_Silent_p.L1457L|SYNJ1_ENST00000357345.3_3'UTR			O43426	SYNJ1_HUMAN	synaptojanin 1	1504	Pro-rich.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						TGATTACCCAGTAAGTCTGAA	0.423																																						ENST00000382491.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(4369-4371)Ctg>Ttg		synaptojanin 1							129.0	125.0	126.0					21																	34003517		2203	4300	6503	SO:0001819	synonymous_variant	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34003517G>A	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.4510C>T	21.37:g.34003517G>A						SYNJ1_ENST00000433931.2_Silent_p.L1543L|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.L1504L	p.L1457L	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN			28	4493	-			1504			Pro-rich.		O43425|O94984|Q4KMR1	Silent	SNP	ENST00000322229.7	37	c.4369C>T	CCDS54484.1																																																																																				0.423	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				5	380	0	0	0	1	0	5	380				
MCHR1	2847	broad.mit.edu	37	22	41077549	41077549	+	Missense_Mutation	SNP	G	G	A	rs149149384	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:41077549G>A	ENST00000249016.4	+	2	1582	c.886G>A	c.(886-888)Gca>Aca	p.A296T	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	296					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CATCACAGCCGCATACGTGAG	0.622													G|||	2	0.000399361	0.0015	0.0	5008	,	,		21878	0.0		0.0	False		,,,				2504	0.0					ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(886-888)Gca>Aca		melanin-concentrating hormone receptor 1		G	THR/ALA	4,4402	8.1+/-20.4	0,4,2199	119.0	82.0	94.0		886	5.2	0.2	22	dbSNP_134	94	0,8600		0,0,4300	yes	missense	MCHR1	NM_005297.3	58	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	possibly-damaging	296/423	41077549	4,13002	2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077549G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.886G>A	22.37:g.41077549G>A	ENSP00000249016:p.Ala296Thr					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.A170T	p.A296T	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1582	+			296					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.886G>A	CCDS14004.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	16.88	3.244003	0.58995	9.08E-4	0.0	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.36699	1.24;1.24	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.050191	0.85682	D	0.000000	T	0.44664	0.1304	N	0.22421	0.69	0.43761	D	0.996275	D	0.71674	0.998	P	0.62184	0.899	T	0.45160	-0.9280	10	0.72032	D	0.01	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	296	Q99705	MCHR1_HUMAN	T	296;170	ENSP00000249016:A296T;ENSP00000370841:A170T	ENSP00000249016:A296T	A	+	1	0	MCHR1	39407495	1.000000	0.71417	0.205000	0.23548	0.373000	0.29922	6.723000	0.74742	2.607000	0.88179	0.655000	0.94253	GCA		0.622	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		5	494	0	0	0	1	0	5	494				
MYH14	79784	broad.mit.edu	37	19	50804981	50804981	+	Missense_Mutation	SNP	C	C	T	rs199600574	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:50804981C>T	ENST00000596571.1	+	37	5410	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	MYH14_ENST00000425460.1_Missense_Mutation_p.R1812W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1837W|MYH14_ENST00000440075.2_Missense_Mutation_p.R1845W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1845W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1812W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1845W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1804					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGAGAGCGGGCGGCAGCAGCT	0.622													C|||	4	0.000798722	0.0	0.0	5008	,	,		17612	0.0		0.004	False		,,,				2504	0.0					ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(5533-5535)Cgg>Tgg		myosin, heavy chain 14, non-muscle		C	TRP/ARG,TRP/ARG,TRP/ARG	0,4122		0,0,2061	39.0	46.0	44.0		5434,5533,5410	0.3	1.0	19		44	4,8444		0,4,4220	yes	missense,missense,missense	MYH14	NM_001077186.1,NM_001145809.1,NM_024729.3	101,101,101	0,4,6281	TT,TC,CC		0.0473,0.0,0.0318	possibly-damaging,possibly-damaging,possibly-damaging	1812/2004,1845/2037,1804/1996	50804981	4,12566	2061	4224	6285	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50804981C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5410C>T	19.37:g.50804981C>T	ENSP00000472819:p.Arg1804Trp					MYH14_ENST00000262269.8_Missense_Mutation_p.R1845W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1837W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1812W|MYH14_ENST00000596571.1_Missense_Mutation_p.R1804W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1845W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1812W	p.R1845W			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	40	5580	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1804					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.5533C>T	CCDS59411.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	C	16.84	3.232688	0.58777	0.0	4.73E-4	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.08	0.271	0.15640	Myosin tail (1);	.	.	.	.	D	0.82379	0.5024	M	0.72353	2.195	0.41383	D	0.987569	P;P;P	0.45827	0.839;0.867;0.839	B;P;B	0.45406	0.347;0.479;0.347	T	0.82908	-0.0224	9	0.87932	D	0	.	11.1273	0.48325	0.4729:0.5271:0.0:0.0	.	1845;1804;1812	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	1845;1837;1812;1588;1845	ENSP00000406273:R1845W;ENSP00000366169:R1837W;ENSP00000407879:R1812W;ENSP00000262269:R1845W	ENSP00000262269:R1845W	R	+	1	2	MYH14	55496793	0.974000	0.33945	0.998000	0.56505	0.996000	0.88848	2.466000	0.45084	0.425000	0.26087	0.591000	0.81541	CGG		0.622	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		39	299	0	0	0	1	0	39	299				
MAL2	114569	broad.mit.edu	37	8	120255673	120255673	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:120255673C>T	ENST00000276681.6	+	5	578	c.476C>T	c.(475-477)aCg>aTg	p.T159M	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	159	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)						all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			GCCTTTATGACGACAGCTTGT	0.378																																						ENST00000276681.6																			0											c.(475-477)aCg>aTg		mal, T-cell differentiation protein 2 (gene/pseudogene)							96.0	87.0	90.0					8																	120255673		1920	4134	6054	SO:0001583	missense	114569					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding	g.chr8:120255673C>T	AL117612	CCDS75780.1	8q23	2011-01-26	2011-01-26			ENSG00000147676			13634	protein-coding gene	gene with protein product	"""MAL proteolipid protein 2"""	609684				11549320	Standard	NM_052886		Approved		uc003yop.3	Q969L2		ENST00000276681.6:c.476C>T	8.37:g.120255673C>T	ENSP00000475434:p.Thr159Met					RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	p.T159M	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	STAD - Stomach adenocarcinoma(47;0.000967)		5	578	+	all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		159			MARVEL.		B2R520|Q6ZMD9	Missense_Mutation	SNP	ENST00000276681.6	37	c.476C>T																																																																																					0.378	MAL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052886		5	55	0	0	0	1	0	5	55				
ZCCHC11	23318	broad.mit.edu	37	1	52975368	52975368	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:52975368G>C	ENST00000371544.3	-	4	1161	c.899C>G	c.(898-900)aCc>aGc	p.T300S	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T300S|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	300					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCGACAATTGGTATATTCTGG	0.299																																						ENST00000371544.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(898-900)aCc>aGc		zinc finger, CCHC domain containing 11							80.0	83.0	82.0					1																	52975368		2203	4297	6500	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52975368G>C	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.899C>G	1.37:g.52975368G>C	ENSP00000360599:p.Thr300Ser					ZCCHC11_ENST00000257177.4_Missense_Mutation_p.T300S|ZCCHC11_ENST00000371541.1_5'UTR	p.T300S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN			4	1161	-			300					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.899C>G	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.621309	0.28889	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.2	4.29	0.51040	.	0.114084	0.64402	D	0.000011	T	0.33847	0.0877	L	0.46157	1.445	0.80722	D	1	B;B;P;B	0.40230	0.085;0.178;0.708;0.307	B;B;P;B	0.44623	0.025;0.171;0.455;0.031	T	0.08597	-1.0714	10	0.06099	T	0.92	.	13.6766	0.62458	0.0748:0.0:0.9252:0.0	.	59;300;300;300	E9PKX1;Q5TAX3-2;E9PRG2;Q5TAX3	.;.;.;TUT4_HUMAN	S	300;300;300;59	ENSP00000257177:T300S;ENSP00000360599:T300S;ENSP00000433486:T300S;ENSP00000435256:T59S	ENSP00000257177:T300S	T	-	2	0	ZCCHC11	52747956	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.244000	0.95423	1.188000	0.43014	0.655000	0.94253	ACC		0.299	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		10	495	0	0	0	1	0	10	495				
ZNF777	27153	broad.mit.edu	37	7	149152729	149152729	+	Missense_Mutation	SNP	C	C	T	rs201615239	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:149152729C>T	ENST00000247930.4	-	2	708	c.385G>A	c.(385-387)Gtt>Att	p.V129I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GGGGAGTGAACGGGGGCTTCC	0.617													C|||	2	0.000399361	0.0	0.0	5008	,	,		12825	0.0		0.002	False		,,,				2504	0.0					ENST00000247930.4																			0				large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26						c.(385-387)Gtt>Att		zinc finger protein 777							89.0	102.0	98.0					7																	149152729		1861	4093	5954	SO:0001583	missense	27153				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149152729C>T	AB033111	CCDS43675.1	7q36.1	2013-01-08			ENSG00000196453	ENSG00000196453		"""Zinc fingers, C2H2-type"", ""-"""	22213	protein-coding gene	gene with protein product							Standard	NM_015694		Approved	KIAA1285	uc003wfv.3	Q9ULD5	OTTHUMG00000158967	ENST00000247930.4:c.385G>A	7.37:g.149152729C>T	ENSP00000247930:p.Val129Ile						p.V129I	NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		2	708	-	Melanoma(164;0.165)		129					Q8N2R2|Q8N659	Missense_Mutation	SNP	ENST00000247930.4	37	c.385G>A	CCDS43675.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	3.332	-0.136544	0.06711	.	.	ENSG00000196453	ENST00000247930	T	0.04917	3.53	4.94	2.16	0.27623	.	0.185481	0.26307	N	0.025121	T	0.02888	0.0086	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.40572	-0.9556	10	0.52906	T	0.07	-16.5416	3.4549	0.07511	0.0948:0.1735:0.5599:0.1718	.	129	Q9ULD5-2	.	I	129	ENSP00000247930:V129I	ENSP00000247930:V129I	V	-	1	0	ZNF777	148783662	0.914000	0.31030	0.001000	0.08648	0.180000	0.23129	1.290000	0.33319	0.155000	0.19261	-1.474000	0.01003	GTT		0.617	ZNF777-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352708.1	NM_015694		83	1147	0	0	0	1	0	83	1147				
STAM	8027	broad.mit.edu	37	10	17746472	17746472	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:17746472C>T	ENST00000377524.3	+	10	1170	c.955C>T	c.(955-957)Ccc>Tcc	p.P319S	STAM_ENST00000540523.1_Missense_Mutation_p.P208S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	319					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AAGTACAGACCCCAGTGATGA	0.373																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(955-957)Ccc>Tcc		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							140.0	137.0	138.0					10																	17746472		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17746472C>T	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.955C>T	10.37:g.17746472C>T	ENSP00000366746:p.Pro319Ser					STAM_ENST00000540523.1_Missense_Mutation_p.P208S	p.P319S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			10	1170	+			319					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.955C>T	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	32	5.142791	0.94560	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.50277	1.16;0.75	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.73877	0.3643	M	0.85197	2.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72896	-0.4153	10	0.41790	T	0.15	-15.4889	20.2956	0.98549	0.0:1.0:0.0:0.0	.	319	Q92783	STAM1_HUMAN	S	319;208	ENSP00000366746:P319S;ENSP00000438073:P208S	ENSP00000366746:P319S	P	+	1	0	STAM	17786478	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	2.805000	0.96524	0.460000	0.39030	CCC		0.373	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		15	639	0	0	0	1	0	15	639				
SPRR2E	6704	broad.mit.edu	37	1	153066012	153066012	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:153066012C>A	ENST00000368751.1	-	2	290	c.216G>T	c.(214-216)aaG>aaT	p.K72N	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K72N			P22531	SPR2E_HUMAN	small proline-rich protein 2E	72					epidermis development (GO:0008544)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAAGCTGTTACTTGCTCTTGG	0.512																																						ENST00000368751.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(214-216)aaG>aaT		small proline-rich protein 2E							245.0	234.0	238.0					1																	153066012		2203	4300	6503	SO:0001583	missense	6704				keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	g.chr1:153066012C>A	AF333955	CCDS30866.1	1q21-q22	2008-02-05			ENSG00000203785	ENSG00000203785			11265	protein-coding gene	gene with protein product						8325635	Standard	NM_001024209		Approved		uc001fbh.3	P22531	OTTHUMG00000014397	ENST00000368751.1:c.216G>T	1.37:g.153066012C>A	ENSP00000357740:p.Lys72Asn					SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Missense_Mutation_p.K72N	p.K72N			P22531	SPR2E_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	290	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		72					Q5T9T4|Q96RM2	Missense_Mutation	SNP	ENST00000368751.1	37	c.216G>T	CCDS30866.1	.	.	.	.	.	.	.	.	.	.	C	1.601	-0.526412	0.04141	.	.	ENSG00000203785	ENST00000368751;ENST00000368750	T;T	0.43294	0.95;0.95	4.13	3.19	0.36642	.	0.000000	0.36932	N	0.002330	T	0.16257	0.0391	.	.	.	0.20764	N	0.999854	P	0.47762	0.9	B	0.37888	0.26	T	0.03068	-1.1076	9	0.87932	D	0	.	9.8253	0.40908	0.0:0.7897:0.2103:0.0	.	72	P22531	SPR2E_HUMAN	N	72	ENSP00000357740:K72N;ENSP00000357739:K72N	ENSP00000357739:K72N	K	-	3	2	SPRR2E	151332636	0.725000	0.28048	0.559000	0.28332	0.002000	0.02628	0.293000	0.19029	0.712000	0.32039	-0.718000	0.03613	AAG		0.512	SPRR2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040054.1			81	767	1	0	3.33908e-46	1	3.84536e-46	81	767				
FRS2	10818	broad.mit.edu	37	12	69968596	69968596	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:69968596C>T	ENST00000550389.1	+	7	1634	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I	FRS2_ENST00000397997.2_Missense_Mutation_p.T463I|FRS2_ENST00000549921.1_Missense_Mutation_p.T463I|FRS2_ENST00000299293.2_Missense_Mutation_p.T463I	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	463					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CTTCCACAAACCCCTACCAGG	0.493																																						ENST00000299293.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1387-1389)aCc>aTc		fibroblast growth factor receptor substrate 2							95.0	97.0	96.0					12																	69968596		2031	4195	6226	SO:0001583	missense	10818				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr12:69968596C>T	AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.1388C>T	12.37:g.69968596C>T	ENSP00000447241:p.Thr463Ile					FRS2_ENST00000550389.1_Missense_Mutation_p.T463I|FRS2_ENST00000549921.1_Missense_Mutation_p.T463I|FRS2_ENST00000397997.2_Missense_Mutation_p.T463I	p.T463I	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)		10	1898	+	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		463					B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	ENST00000550389.1	37	c.1388C>T	CCDS41809.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115497	0.56505	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	6.17	6.17	0.99709	.	0.060396	0.64402	D	0.000003	T	0.42630	0.1211	L	0.47716	1.5	0.46478	D	0.999069	D	0.69078	0.997	P	0.57911	0.829	T	0.01185	-1.1425	9	.	.	.	-14.2326	20.8794	0.99867	0.0:1.0:0.0:0.0	.	463	Q8WU20	FRS2_HUMAN	I	463	ENSP00000299293:T463I;ENSP00000450048:T463I;ENSP00000447241:T463I;ENSP00000381083:T463I	.	T	+	2	0	FRS2	68254863	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.480000	0.66820	2.941000	0.99782	0.655000	0.94253	ACC		0.493	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403760.1	NM_006654		5	317	0	0	0	1	0	5	317				
GAS2	2620	broad.mit.edu	37	11	22696443	22696443	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:22696443C>T	ENST00000454584.2	+	2	333	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	GAS2_ENST00000278187.3_Missense_Mutation_p.R10C|GAS2_ENST00000433790.1_Missense_Mutation_p.R10C|GAS2_ENST00000533092.1_3'UTR	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	10					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						CCCAAAGGTACGCAGTGGACC	0.423																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(28-30)Cgc>Tgc		growth arrest-specific 2							99.0	95.0	96.0					11																	22696443		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22696443C>T	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.28C>T	11.37:g.22696443C>T	ENSP00000401145:p.Arg10Cys					GAS2_ENST00000533092.1_3'UTR|GAS2_ENST00000433790.1_Missense_Mutation_p.R10C|GAS2_ENST00000278187.3_Missense_Mutation_p.R10C	p.R10C	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			2	333	+			10					B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.28C>T	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191049	0.78902	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T	0.50813	0.75;0.8;0.8;0.73;0.8	5.37	5.37	0.77165	.	0.274150	0.37304	N	0.002154	T	0.57184	0.2036	L	0.38175	1.15	0.58432	D	0.999995	D	0.89917	1.0	P	0.58873	0.847	T	0.59920	-0.7363	10	0.87932	D	0	-12.4504	18.4565	0.90722	0.0:1.0:0.0:0.0	.	10	O43903	GAS2_HUMAN	C	10	ENSP00000432584:R10C;ENSP00000401145:R10C;ENSP00000278187:R10C;ENSP00000435946:R10C;ENSP00000396708:R10C	ENSP00000278187:R10C	R	+	1	0	GAS2	22653019	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.445000	0.52921	2.659000	0.90383	0.655000	0.94253	CGC		0.423	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		105	143	0	0	0	1	0	105	143				
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			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.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	542	0	0	0	1	0	5	542				
PCDHA3	56145	broad.mit.edu	37	5	140182606	140182606	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:140182606G>A	ENST00000522353.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S608S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.S608S(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAGCTGC	0.677																																						ENST00000522353.2																			2	Substitution - coding silent(2)	p.S608S(2)	prostate(2)	NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(1822-1824)tcG>tcA									96.0	93.0	94.0					5																	140182606		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140182606G>A	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1824G>A	5.37:g.140182606G>A						PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.S608S|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	p.S608S	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1824	+								O75286	Silent	SNP	ENST00000522353.2	37	c.1824G>A	CCDS54915.1																																																																																				0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		128	283	0	0	0	1	0	128	283				
TTLL10	254173	broad.mit.edu	37	1	1115519	1115519	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:1115519A>T	ENST00000379290.1	+	6	478	c.305A>T	c.(304-306)gAg>gTg	p.E102V	TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379289.1_Missense_Mutation_p.E102V|TTLL10_ENST00000379288.3_Missense_Mutation_p.E29V			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	102					cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCGGACCTGGAGGGGGCAGAA	0.682																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(304-306)gAg>gTg		tubulin tyrosine ligase-like family, member 10							23.0	29.0	27.0					1																	1115519		2203	4297	6500	SO:0001583	missense	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1115519A>T	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.305A>T	1.37:g.1115519A>T	ENSP00000368592:p.Glu102Val					TTLL10_ENST00000379289.1_Missense_Mutation_p.E102V|TTLL10_ENST00000379288.3_Missense_Mutation_p.E29V	p.E102V			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	6	478	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	102					B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Missense_Mutation	SNP	ENST00000379290.1	37	c.305A>T	CCDS44036.1	.	.	.	.	.	.	.	.	.	.	A	9.678	1.148489	0.21288	.	.	ENSG00000162571	ENST00000379290;ENST00000379289;ENST00000379288	T;T;T	0.17691	3.2;3.2;2.26	3.4	-5.56	0.02529	.	.	.	.	.	T	0.07234	0.0183	N	0.22421	0.69	0.09310	N	1	P;B	0.36535	0.557;0.421	B;B	0.30572	0.117;0.055	T	0.28522	-1.0041	9	0.24483	T	0.36	.	5.299	0.15768	0.2902:0.3154:0.3944:0.0	.	29;102	Q6ZVT0-3;Q6ZVT0	.;TTL10_HUMAN	V	102;102;29	ENSP00000368592:E102V;ENSP00000368591:E102V;ENSP00000368590:E29V	ENSP00000368590:E29V	E	+	2	0	TTLL10	1105382	0.000000	0.05858	0.000000	0.03702	0.106000	0.19336	-0.121000	0.10643	-1.117000	0.02965	-0.666000	0.03841	GAG		0.682	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		59	32	0	0	0	1	0	59	32				
SOX6	55553	broad.mit.edu	37	11	16068200	16068200	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:16068200T>C	ENST00000352083.6	-	12	1560	c.1483A>G	c.(1483-1485)Aca>Gca	p.T495A	SOX6_ENST00000528429.1_Missense_Mutation_p.T495A|SOX6_ENST00000396356.3_Missense_Mutation_p.T495A|SOX6_ENST00000528252.1_Missense_Mutation_p.T468A|SOX6_ENST00000316399.6_Missense_Mutation_p.T495A|SOX6_ENST00000527619.1_Missense_Mutation_p.T471A			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	495					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|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)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATCACTGTATCCTGATCC	0.502																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(1483-1485)Aca>Gca		SRY (sex determining region Y)-box 6							97.0	88.0	91.0					11																	16068200		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16068200T>C	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1483A>G	11.37:g.16068200T>C	ENSP00000339876:p.Thr495Ala					SOX6_ENST00000527619.1_Missense_Mutation_p.T471A|SOX6_ENST00000528252.1_Missense_Mutation_p.T468A|SOX6_ENST00000396356.3_Missense_Mutation_p.T495A|SOX6_ENST00000316399.6_Missense_Mutation_p.T495A|SOX6_ENST00000528429.1_Missense_Mutation_p.T495A	p.T495A			P35712	SOX6_HUMAN			12	1560	-			495					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.1483A>G		.	.	.	.	.	.	.	.	.	.	T	5.849	0.340921	0.11069	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97256	-4.31;-4.3;-4.31;-4.24;-4.24;-4.3	5.96	5.96	0.96718	.	0.046374	0.85682	D	0.000000	D	0.92456	0.7605	N	0.03154	-0.405	0.54753	D	0.999981	B;B;P	0.51147	0.007;0.0;0.942	B;B;P	0.50659	0.006;0.001;0.647	D	0.91182	0.4977	10	0.02654	T	1	.	16.4221	0.83766	0.0:0.0:0.0:1.0	.	495;495;471	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	A	495;495;495;468;471;495	ENSP00000324948:T495A;ENSP00000339876:T495A;ENSP00000379644:T495A;ENSP00000432134:T468A;ENSP00000434455:T471A;ENSP00000433233:T495A	ENSP00000324948:T495A	T	-	1	0	SOX6	16024776	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	3.331000	0.52075	2.283000	0.76528	0.477000	0.44152	ACA		0.502	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		14	255	0	0	0	1	0	14	255				
KIAA0754	643314	broad.mit.edu	37	1	39879250	39879250	+	Missense_Mutation	SNP	A	A	G	rs783822	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:39879250A>G	ENST00000530275.1	+	1	3100	c.2905A>G	c.(2905-2907)Acc>Gcc	p.T969A	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	969	Ala-rich.		T -> A (in dbSNP:rs783822).							central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGGAGCCCACCTCCCCAGC	0.726																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(2905-2907)Acc>Gcc		KIAA0754							2.0	3.0	3.0					1																	39879250		1314	3305	4619	SO:0001583	missense	643314							g.chr1:39879250A>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2905A>G	1.37:g.39879250A>G	ENSP00000431179:p.Thr969Ala					MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron	p.T969A	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3100	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	969		T -> A (in dbSNP:rs783822).	Ala-rich.		E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2905A>G		.	.	.	.	.	.	.	.	.	.	G	2.741	-0.262220	0.05791	.	.	ENSG00000255103	ENST00000530275	T	0.22336	1.96	4.86	1.59	0.23543	.	.	.	.	.	T	0.07548	0.0190	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	9	0.10902	T	0.67	.	4.7666	0.13135	0.3802:0.1494:0.4704:0.0	rs783822	969	O94854	K0754_HUMAN	A	969	ENSP00000431179:T969A	ENSP00000431179:T969A	T	+	1	0	RP4-562N20.1	39651837	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.883000	0.00714	0.074000	0.16767	-1.389000	0.01157	ACC		0.726	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		6	83	0	0	0	1	0	6	83				
FREM2	341640	broad.mit.edu	37	13	39446905	39446905	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr13:39446905G>A	ENST00000280481.7	+	17	8226	c.8010G>A	c.(8008-8010)gtG>gtA	p.V2670V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2670					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGTCCTATGTGACCCTTCGAG	0.443																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(8008-8010)gtG>gtA		FRAS1 related extracellular matrix protein 2							164.0	154.0	158.0					13																	39446905		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39446905G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.8010G>A	13.37:g.39446905G>A							p.V2670V	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	17	8226	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	2670					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.8010G>A	CCDS31960.1																																																																																				0.443	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		6	266	0	0	0	1	0	6	266				
PDLIM5	10611	broad.mit.edu	37	4	95506861	95506861	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:95506861C>T	ENST00000317968.4	+	6	992	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F	PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	286					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TTTCCGAATCCTTGCCCAGAT	0.468																																						ENST00000317968.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(856-858)Ctt>Ttt		PDZ and LIM domain 5							103.0	89.0	94.0					4																	95506861		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95506861C>T	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.856C>T	4.37:g.95506861C>T	ENSP00000321746:p.Leu286Phe					PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F	p.L286F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	6	992	+		Hepatocellular(203;0.114)	286					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.856C>T	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.654354	0.88056	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T;T;D	0.83673	-0.97;-0.34;-0.33;-0.25;-0.67;-1.07;-1.02;-1.49;-0.34;-1.75	5.31	4.45	0.53987	.	0.068559	0.64402	D	0.000016	D	0.89715	0.6795	M	0.72118	2.19	0.80722	D	1	D;D;D;D;P;D	0.89917	1.0;0.998;0.999;1.0;0.948;1.0	D;P;D;D;P;D	0.97110	0.999;0.905;0.999;1.0;0.529;1.0	D	0.89439	0.3722	10	0.48119	T	0.1	.	14.8543	0.70323	0.0:0.9269:0.0:0.0731	.	183;183;286;177;183;163	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.;.;PDLI5_HUMAN;.;.;.	F	177;183;163;183;163;286;183;164;183;183	ENSP00000398469:L177F;ENSP00000369527:L183F;ENSP00000322021:L163F;ENSP00000401579:L183F;ENSP00000439795:L163F;ENSP00000321746:L286F;ENSP00000424297:L183F;ENSP00000442187:L164F;ENSP00000426804:L183F;ENSP00000424360:L183F	ENSP00000321746:L286F	L	+	1	0	PDLIM5	95725884	1.000000	0.71417	0.982000	0.44146	0.998000	0.95712	4.610000	0.61155	2.624000	0.88883	0.650000	0.86243	CTT		0.468	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			13	212	0	0	0	1	0	13	212				
COL4A4	1286	broad.mit.edu	37	2	227872866	227872866	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:227872866G>C	ENST00000396625.3	-	47	4884	c.4677C>G	c.(4675-4677)atC>atG	p.I1559M	COL4A4_ENST00000329662.7_Missense_Mutation_p.I1556M	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1559	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CATAGGGGCGGATCGCCTCTT	0.657																																						ENST00000396625.3																			0				breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98						c.(4675-4677)atC>atG		collagen, type IV, alpha 4							33.0	40.0	38.0					2																	227872866		2072	4189	6261	SO:0001583	missense	1286				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	g.chr2:227872866G>C		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.4677C>G	2.37:g.227872866G>C	ENSP00000379866:p.Ile1559Met					COL4A4_ENST00000329662.7_Missense_Mutation_p.I1556M	p.I1559M	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)	47	4884	-		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)	1559			Collagen IV NC1.		A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	c.4677C>G	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234549	0.22626	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.94966	-3.57;-3.57	5.91	1.68	0.24146	C-type lectin fold (1);	.	.	.	.	D	0.96476	0.8850	M	0.88842	2.985	0.36197	D	0.850447	P	0.44776	0.843	D	0.66847	0.947	D	0.94675	0.7860	9	0.66056	D	0.02	.	2.3425	0.04263	0.2331:0.0964:0.4846:0.1859	.	1559	P53420	CO4A4_HUMAN	M	1559;1556	ENSP00000379866:I1559M;ENSP00000328553:I1556M	ENSP00000328553:I1556M	I	-	3	3	COL4A4	227581110	0.098000	0.21812	1.000000	0.80357	0.210000	0.24377	0.325000	0.19628	0.395000	0.25257	0.655000	0.94253	ATC		0.657	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1	NM_000092		21	100	0	0	0	1	0	21	100				
ACRC	93953	broad.mit.edu	37	X	70824002	70824002	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:70824002C>G	ENST00000373695.1	+	7	1412	c.875C>G	c.(874-876)tCg>tGg	p.S292W	ACRC_ENST00000373696.3_Missense_Mutation_p.S292W			Q96QF7	ACRC_HUMAN	acidic repeat containing	292	Asp/Ser-rich.					nucleus (GO:0005634)				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGTGATGATTCGGAAGCTTCC	0.527																																						ENST00000373695.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(874-876)tCg>tGg		acidic repeat containing							118.0	114.0	115.0					X																	70824002		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70824002C>G	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.875C>G	X.37:g.70824002C>G	ENSP00000362799:p.Ser292Trp					ACRC_ENST00000373696.3_Missense_Mutation_p.S292W	p.S292W			Q96QF7	ACRC_HUMAN			7	1412	+	Renal(35;0.156)		292			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.875C>G	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	4.460	0.085121	0.08583	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.33654	1.4;1.4	0.14	0.14	0.14804	.	.	.	.	.	T	0.16811	0.0404	N	0.12182	0.205	0.09310	N	1	D	0.63046	0.992	B	0.41332	0.354	T	0.12656	-1.0539	9	0.59425	D	0.04	.	2.9227	0.05774	0.4915:0.5081:2.0E-4:2.0E-4	.	292	Q96QF7	ACRC_HUMAN	W	292	ENSP00000362800:S292W;ENSP00000362799:S292W	ENSP00000362799:S292W	S	+	2	0	ACRC	70740727	0.000000	0.05858	0.023000	0.16930	0.023000	0.10783	-1.643000	0.02004	0.168000	0.19655	0.169000	0.16792	TCG		0.527	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			22	959	0	0	0	1	0	22	959				
CDH10	1008	broad.mit.edu	37	5	24593539	24593539	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:24593539A>T	ENST00000264463.4	-	2	568	c.61T>A	c.(61-63)Tct>Act	p.S21T	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	21					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTCTGGAGAGCAGAAATGT	0.408										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(61-63)Tct>Act		cadherin 10, type 2 (T2-cadherin)							91.0	84.0	87.0					5																	24593539		2203	4298	6501	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24593539A>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.61T>A	5.37:g.24593539A>T	ENSP00000264463:p.Ser21Thr	HNSCC(23;0.051)				RP11-116O11.1_ENST00000510391.1_RNA	p.S21T	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	2	568	-			21					Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.61T>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	10.36	1.329685	0.24167	.	.	ENSG00000040731	ENST00000264463	T	0.54675	0.56	4.36	4.36	0.52297	.	1.041160	0.07485	N	0.904698	T	0.40015	0.1100	L	0.38531	1.155	0.09310	N	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.30736	-0.9968	10	0.15952	T	0.53	.	5.6232	0.17469	0.791:0.0:0.209:0.0	.	21	Q9Y6N8	CAD10_HUMAN	T	21	ENSP00000264463:S21T	ENSP00000264463:S21T	S	-	1	0	CDH10	24629296	1.000000	0.71417	0.999000	0.59377	0.939000	0.58152	3.533000	0.53561	1.738000	0.51689	0.472000	0.43445	TCT		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		40	591	0	0	0	1	0	40	591				
CDK17	5128	broad.mit.edu	37	12	96704950	96704950	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:96704950T>C	ENST00000261211.3	-	5	1026	c.423A>G	c.(421-423)ttA>ttG	p.L141L	CDK17_ENST00000543119.2_Silent_p.L141L|CDK17_ENST00000542666.1_Silent_p.L88L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	141					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACCGCTTATTTAAATCCTTAA	0.343																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(421-423)ttA>ttG		cyclin-dependent kinase 17							60.0	61.0	60.0					12																	96704950		2203	4300	6503	SO:0001819	synonymous_variant	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96704950T>C		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.423A>G	12.37:g.96704950T>C						CDK17_ENST00000542666.1_Silent_p.L88L|CDK17_ENST00000543119.2_Silent_p.L141L	p.L141L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			5	1026	-			141					A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	c.423A>G	CCDS9061.1																																																																																				0.343	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		18	206	0	0	0	1	0	18	206				
HRCT1	646962	broad.mit.edu	37	9	35906559	35906559	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:35906559A>C	ENST00000354323.2	+	1	371	c.275A>C	c.(274-276)cAc>cCc	p.H92P	LINC00961_ENST00000443779.1_lincRNA	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	92	His-rich.					integral component of membrane (GO:0016021)		p.H92P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						caccaccaccacccccgccac	0.682																																						ENST00000354323.2																			1	Substitution - Missense(1)	p.H92P(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(274-276)cAc>cCc		histidine rich carboxyl terminus 1							24.0	19.0	20.0					9																	35906559		2189	4276	6465	SO:0001583	missense	646962					integral to membrane		g.chr9:35906559A>C		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.275A>C	9.37:g.35906559A>C	ENSP00000346283:p.His92Pro						p.H92P	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	371	+			92			His-rich.		B7ZBJ1	Missense_Mutation	SNP	ENST00000354323.2	37	c.275A>C	CCDS35012.1	.	.	.	.	.	.	.	.	.	.	A	6.244	0.413193	0.11812	.	.	ENSG00000196196	ENST00000354323	.	.	.	2.44	-4.88	0.03113	.	2.969780	0.02194	N	0.061627	T	0.16257	0.0391	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.12682	-1.0538	9	0.87932	D	0	-35.0854	0.2739	0.00235	0.2845:0.1811:0.2905:0.2438	.	92	Q6UXD1	HRCT1_HUMAN	P	92	.	ENSP00000346283:H92P	H	+	2	0	HRCT1	35896559	0.200000	0.23398	0.000000	0.03702	0.183000	0.23260	0.845000	0.27668	-1.085000	0.03088	0.383000	0.25322	CAC		0.682	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		16	65	0	0	0	1	0	16	65				
RABGGTB	5876	broad.mit.edu	37	1	76253257	76253257	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:76253257A>G	ENST00000319942.3	+	2	150	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	SNORD45B_ENST00000364617.1_RNA|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I27V|RABGGTB_ENST00000496055.1_3'UTR|SNORD45C_ENST00000383893.1_RNA|SNORD45A_ENST00000384512.1_RNA|RABGGTB_ENST00000535300.1_5'UTR	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit	27					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						TGCAGATTATATCGCATCCTA	0.343																																						ENST00000319942.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						c.(79-81)Atc>Gtc		Rab geranylgeranyltransferase, beta subunit							162.0	150.0	154.0					1																	76253257		2203	4300	6503	SO:0001583	missense	5876				protein modification process|visual perception		metal ion binding|protein binding|Rab geranylgeranyltransferase activity	g.chr1:76253257A>G	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.79A>G	1.37:g.76253257A>G	ENSP00000317473:p.Ile27Val					RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000370826.3_Missense_Mutation_p.I27V|RABGGTB_ENST00000496055.1_3'UTR	p.I27V	NM_004582.2	NP_004573.2	P53611	PGTB2_HUMAN			2	150	+			27					Q92697	Missense_Mutation	SNP	ENST00000319942.3	37	c.79A>G	CCDS669.1	.	.	.	.	.	.	.	.	.	.	A	17.42	3.385237	0.61956	.	.	ENSG00000137955	ENST00000319942;ENST00000370824;ENST00000370826	T;T	0.42513	0.97;0.97	5.05	5.05	0.67936	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.084250	0.85682	D	0.000000	T	0.29556	0.0737	M	0.62088	1.915	0.80722	D	1	B	0.15141	0.012	B	0.23574	0.047	T	0.15867	-1.0422	10	0.40728	T	0.16	-1.6017	15.0861	0.72155	1.0:0.0:0.0:0.0	.	27	P53611	PGTB2_HUMAN	V	27	ENSP00000317473:I27V;ENSP00000359862:I27V	ENSP00000317473:I27V	I	+	1	0	RABGGTB	76025845	1.000000	0.71417	0.988000	0.46212	0.280000	0.26924	8.598000	0.90852	2.030000	0.59900	0.533000	0.62120	ATC		0.343	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026972.1	NM_004582		251	219	0	0	0	1	0	251	219				
SPATA25	128497	broad.mit.edu	37	20	44515437	44515437	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:44515437G>C	ENST00000372519.3	-	2	447	c.403C>G	c.(403-405)Cta>Gta	p.L135V		NM_080608.3	NP_542175.1	Q9BR10	SPT25_HUMAN	spermatogenesis associated 25	135					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GGTACCGGTAGAACCCGTGGT	0.642																																						ENST00000372519.3																			0											c.(403-405)Cta>Gta		spermatogenesis associated 25							73.0	75.0	74.0					20																	44515437		2203	4300	6503	SO:0001583	missense	128497					integral to membrane		g.chr20:44515437G>C	AL008726	CCDS13383.1	20q13.12	2011-11-24	2011-11-24	2011-11-24	ENSG00000149634	ENSG00000149634			16158	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 165"""	C20orf165		19240080	Standard	NM_080608		Approved	dJ337O18.8, TSG23	uc002xqf.3	Q9BR10	OTTHUMG00000032628	ENST00000372519.3:c.403C>G	20.37:g.44515437G>C	ENSP00000361597:p.Leu135Val						p.L135V	NM_080608.3	NP_542175.1	Q9BR10	CT165_HUMAN			2	447	-			135						Missense_Mutation	SNP	ENST00000372519.3	37	c.403C>G	CCDS13383.1	.	.	.	.	.	.	.	.	.	.	G	4.322	0.059144	0.08339	.	.	ENSG00000149634	ENST00000372519	T	0.49720	0.77	5.05	3.08	0.35506	.	0.341617	0.21429	N	0.074683	T	0.32823	0.0842	L	0.32530	0.975	0.20307	N	0.999914	B	0.11235	0.004	B	0.14023	0.01	T	0.24512	-1.0158	10	0.56958	D	0.05	0.2763	5.2616	0.15576	0.1783:0.1693:0.6525:0.0	.	135	Q9BR10	CT165_HUMAN	V	135	ENSP00000361597:L135V	ENSP00000361597:L135V	L	-	1	2	C20orf165	43948844	0.051000	0.20477	0.860000	0.33809	0.087000	0.18053	1.086000	0.30853	0.692000	0.31613	0.655000	0.94253	CTA		0.642	SPATA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079541.1			9	644	0	0	0	1	0	9	644				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	223	0	0	0	1	0	9	223				
ABCB1	5243	broad.mit.edu	37	7	87150105	87150105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:87150105G>A	ENST00000265724.3	-	23	3190	c.2773C>T	c.(2773-2775)Cag>Tag	p.Q925*	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q861*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	925	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TATGGTACCTGCAAACTCTGA	0.403																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(2773-2775)Cag>Tag		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						129.0	120.0	123.0					7																	87150105		2203	4300	6503	SO:0001587	stop_gained	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87150105G>A	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2773C>T	7.37:g.87150105G>A	ENSP00000265724:p.Gln925*					ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Nonsense_Mutation_p.Q861*	p.Q925*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			23	3190	-	Esophageal squamous(14;0.00164)		925			ABC transmembrane type-1 2.		A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	c.2773C>T	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	42	9.625404	0.99223	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.28	4.37	0.52481	.	0.329961	0.34133	N	0.004224	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-8.4195	13.3785	0.60754	0.0:0.0:0.6083:0.3917	.	.	.	.	X	706;925;861	.	ENSP00000265724:Q925X	Q	-	1	0	ABCB1	86988041	0.986000	0.35501	1.000000	0.80357	0.471000	0.32888	1.987000	0.40687	2.467000	0.83353	0.655000	0.94253	CAG		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		5	368	0	0	0	1	0	5	368				
ARFIP2	23647	broad.mit.edu	37	11	6498495	6498495	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:6498495T>G	ENST00000254584.2	-	8	957	c.874A>C	c.(874-876)Aag>Cag	p.K292Q	ARFIP2_ENST00000445086.2_Missense_Mutation_p.K207Q|TRIM3_ENST00000525074.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.K254Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K292Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	292	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCATCACCTTGATCTGGGGG	0.582																																					Melanoma(119;796 1674 9049 20480 24794)	ENST00000254584.2																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15						c.(874-876)Aag>Cag		ADP-ribosylation factor interacting protein 2							36.0	32.0	34.0					11																	6498495		2201	4296	6497	SO:0001583	missense	23647				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding	g.chr11:6498495T>G	BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.874A>C	11.37:g.6498495T>G	ENSP00000254584:p.Lys292Gln					ARFIP2_ENST00000445086.2_Missense_Mutation_p.K207Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.K254Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.K292Q	p.K292Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	8	957	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	292			AH.		B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	ENST00000254584.2	37	c.874A>C	CCDS7765.1	.	.	.	.	.	.	.	.	.	.	T	18.32	3.597057	0.66332	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813	T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11	4.88	4.88	0.63580	Arfaptin-like (3);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	M	0.82823	2.61	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.79108	0.992;0.974;0.983	D	0.87100	0.2178	10	0.33940	T	0.23	.	13.4796	0.61328	0.0:0.0:0.0:1.0	.	325;207;292	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	Q	292;292;207;254	ENSP00000254584:K292Q;ENSP00000379998:K292Q;ENSP00000391427:K207Q;ENSP00000398375:K254Q	ENSP00000254584:K292Q	K	-	1	0	ARFIP2	6455071	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	1.833000	0.53350	0.482000	0.46254	AAG		0.582	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387044.1	NM_012402		46	45	0	0	0	1	0	46	45				
KNG1	3827	broad.mit.edu	37	3	186435487	186435487	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:186435487C>A	ENST00000265023.4	+	1	368	c.156C>A	c.(154-156)aaC>aaA	p.N52K	KNG1_ENST00000287611.2_Missense_Mutation_p.N52K|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.N52K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	52	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAAGTAACAACCAGTTTGTAT	0.398																																						ENST00000265023.4																			0				endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21						c.(154-156)aaC>aaA		kininogen 1	Ouabain(DB01092)						105.0	104.0	105.0					3																	186435487		2203	4297	6500	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186435487C>A		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.156C>A	3.37:g.186435487C>A	ENSP00000265023:p.Asn52Lys					KNG1_ENST00000447445.1_Missense_Mutation_p.N52K|KNG1_ENST00000287611.2_Missense_Mutation_p.N52K|RP11-573D15.8_ENST00000599314.1_RNA	p.N52K	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	1	368	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		52			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.156C>A	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817587	0.32145	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.13196	2.61;2.61;2.61	5.0	3.18	0.36537	Proteinase inhibitor I25, cystatin (2);	0.103499	0.41396	D	0.000882	T	0.33206	0.0855	M	0.81239	2.535	0.36876	D	0.889177	P;D	0.76494	0.916;0.999	P;D	0.74674	0.877;0.984	T	0.30563	-0.9974	10	0.52906	T	0.07	-15.9073	7.2824	0.26318	0.0:0.8001:0.0:0.1999	.	52;52	P01042;P01042-2	KNG1_HUMAN;.	K	52;52;52;40	ENSP00000287611:N52K;ENSP00000265023:N52K;ENSP00000396025:N52K	ENSP00000265023:N52K	N	+	3	2	KNG1	187918181	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	0.509000	0.22707	1.245000	0.43885	-0.463000	0.05309	AAC		0.398	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		12	317	1	0	5.50884e-06	1	5.79973e-06	12	317				
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			0							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			8	293	0	0	0	1	0	8	293				
HOXA10	3206	broad.mit.edu	37	7	27213854	27213854	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:27213854G>A	ENST00000283921.4	-	1	71	c.72C>T	c.(70-72)ccC>ccT	p.P24P	HOXA-AS4_ENST00000519694.1_RNA|RP1-170O19.20_ENST00000465941.1_Intron|HOXA10_ENST00000396344.4_Intron|HOXA-AS4_ENST00000523790.1_RNA|HOXA-AS4_ENST00000519935.1_RNA|HOXA10_ENST00000521421.1_5'Flank|RP1-170O19.20_ENST00000470747.4_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	24					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|male gonad development (GO:0008584)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase binding (GO:0042826)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						AGTTCGCGGCGGGGCTCTCCG	0.592																																						ENST00000283921.4																			0				breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						c.(70-72)ccC>ccT		homeobox A10							55.0	61.0	59.0					7																	27213854		1128	2560	3688	SO:0001819	synonymous_variant	3206				spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27213854G>A		CCDS5410.2	7p15.2	2011-06-20	2005-12-22		ENSG00000253293	ENSG00000253293		"""Homeoboxes / ANTP class : HOXL subclass"""	5100	protein-coding gene	gene with protein product		142957	"""homeo box A10"""	HOX1H, HOX1		1973146, 1358459	Standard	NR_037939		Approved		uc011jzm.2	P31260	OTTHUMG00000023436	ENST00000283921.4:c.72C>T	7.37:g.27213854G>A						RP1-170O19.20_ENST00000470747.4_Intron|HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	p.P24P	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN			1	71	-			24					O43370|O43605|Q15949|Q504T1	Silent	SNP	ENST00000283921.4	37	c.72C>T	CCDS5410.2																																																																																				0.592	HOXA10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358724.2			136	233	0	0	0	1	0	136	233				
CCDC170	80129	broad.mit.edu	37	6	151857487	151857487	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:151857487C>T	ENST00000239374.7	+	2	191	c.92C>T	c.(91-93)aCg>aTg	p.T31M	CCDC170_ENST00000367290.5_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31								p.T31M(1)									GTCCCGGTCACGCGGGAGCAG	0.433																																						ENST00000367290.5																			1	Substitution - Missense(1)	p.T31M(1)	large_intestine(1)								c.(91-93)aCg>aTg		coiled-coil domain containing 170							104.0	97.0	99.0					6																	151857487		1854	4094	5948	SO:0001583	missense	80129							g.chr6:151857487C>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.92C>T	6.37:g.151857487C>T	ENSP00000239374:p.Thr31Met					CCDC170_ENST00000239374.7_Missense_Mutation_p.T31M|CCDC170_ENST00000544131.1_3'UTR	p.T31M			Q8IYT3	CF097_HUMAN			2	181	+			31					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Missense_Mutation	SNP	ENST00000239374.7	37	c.92C>T	CCDS43515.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086199	0.36855	.	.	ENSG00000120262	ENST00000239374;ENST00000367290	T;T	0.11821	2.75;2.74	5.95	3.17	0.36434	.	0.491298	0.22181	N	0.063519	T	0.16257	0.0391	M	0.73962	2.25	0.26952	N	0.966002	D	0.71674	0.998	P	0.59288	0.855	T	0.05451	-1.0884	10	0.87932	D	0	-1.2721	9.129	0.36833	0.0:0.7463:0.1219:0.1318	.	31	Q8IYT3	CF097_HUMAN	M	31	ENSP00000239374:T31M;ENSP00000356259:T31M	ENSP00000239374:T31M	T	+	2	0	C6orf97	151899180	0.675000	0.27558	0.047000	0.18901	0.001000	0.01503	1.302000	0.33459	0.389000	0.25086	-0.157000	0.13467	ACG		0.433	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	NM_025059		47	331	0	0	0	1	0	47	331				
TRPV4	59341	broad.mit.edu	37	12	110230501	110230501	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:110230501G>A	ENST00000418703.2	-	10	1874	c.1780C>T	c.(1780-1782)Cgt>Tgt	p.R594C	TRPV4_ENST00000537083.1_Missense_Mutation_p.R534C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594C|TRPV4_ENST00000536838.1_Missense_Mutation_p.R560C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	594			R -> H (in SMDK and PSTD). {ECO:0000269|PubMed:19232556, ECO:0000269|PubMed:20503319, ECO:0000269|PubMed:20577006}.		actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTCAGCCCACGGGTGAAGTAA	0.597																																						ENST00000418703.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						c.(1780-1782)Cgt>Tgt		transient receptor potential cation channel, subfamily V, member 4							90.0	72.0	78.0					12																	110230501		2203	4300	6503	SO:0001583	missense	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110230501G>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.1780C>T	12.37:g.110230501G>A	ENSP00000406191:p.Arg594Cys					TRPV4_ENST00000536838.1_Missense_Mutation_p.R560C|TRPV4_ENST00000541794.1_Missense_Mutation_p.R547C|TRPV4_ENST00000392719.2_Missense_Mutation_p.R547C|TRPV4_ENST00000261740.2_Missense_Mutation_p.R594C|TRPV4_ENST00000544971.1_Missense_Mutation_p.R487C|TRPV4_ENST00000346520.2_Missense_Mutation_p.R534C|TRPV4_ENST00000537083.1_Missense_Mutation_p.R534C	p.R594C	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN			10	1874	-			594		R -> H (in SMDK and PSTD).			B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Missense_Mutation	SNP	ENST00000418703.2	37	c.1780C>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258837	0.80246	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	D;D;D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	6.06	5.15	0.70609	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.90082	3.085	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	0.97110	0.999;1.0;0.999;1.0;1.0	D	0.95105	0.8233	10	0.87932	D	0	-6.0622	13.3942	0.60840	0.0:0.0:0.7137:0.2863	.	534;594;487;547;560	Q9HBA0-2;Q9HBA0;Q9HBA0-6;Q9HBA0-4;Q9HBA0-5	.;TRPV4_HUMAN;.;.;.	C	594;594;547;534;487;534;547;560	ENSP00000406191:R594C;ENSP00000261740:R594C;ENSP00000376480:R547C;ENSP00000319003:R534C;ENSP00000443611:R487C;ENSP00000442738:R534C;ENSP00000442167:R547C;ENSP00000444336:R560C	ENSP00000261740:R594C	R	-	1	0	TRPV4	108714884	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	2.762000	0.47597	1.531000	0.49152	0.650000	0.86243	CGT		0.597	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		37	135	0	0	0	1	0	37	135				
ATP9A	10079	broad.mit.edu	37	20	50310602	50310602	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50310602G>A	ENST00000338821.5	-	7	851	c.587C>T	c.(586-588)aCg>aTg	p.T196M	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	196					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CTTCCAGTCCGTCTCCCCATC	0.632																																						ENST00000338821.5																			0				breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(586-588)aCg>aTg		ATPase, class II, type 9A							62.0	58.0	59.0					20																	50310602		2203	4300	6503	SO:0001583	missense	10079				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr20:50310602G>A	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.587C>T	20.37:g.50310602G>A	ENSP00000342481:p.Thr196Met					ATP9A_ENST00000402822.1_Intron|ATP9A_ENST00000311637.5_Intron	p.T196M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN			7	851	-			196					E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	c.587C>T	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.926993	0.92389	.	.	ENSG00000054793	ENST00000338821	D	0.91068	-2.78	5.04	5.04	0.67666	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.96833	0.8966	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.66497	0.944	D	0.98256	1.0496	10	0.87932	D	0	-16.7716	18.3987	0.90509	0.0:0.0:1.0:0.0	.	196	O75110	ATP9A_HUMAN	M	196	ENSP00000342481:T196M	ENSP00000342481:T196M	T	-	2	0	ATP9A	49744009	1.000000	0.71417	0.942000	0.38095	0.984000	0.73092	9.476000	0.97823	2.329000	0.79093	0.655000	0.94253	ACG		0.632	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045		209	313	0	0	0	1	0	209	313				
CSMD1	64478	broad.mit.edu	37	8	3611456	3611456	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:3611456G>C	ENST00000520002.1	-	6	1482	c.927C>G	c.(925-927)ttC>ttG	p.F309L	CSMD1_ENST00000539096.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602557.1_Missense_Mutation_p.F309L|CSMD1_ENST00000537824.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F309L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F309L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F309L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	309	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTTACCTTGGAACTGAGCGT	0.403																																						ENST00000602557.1																			0				breast(20)|large_intestine(5)	25						c.(925-927)ttC>ttG		CUB and Sushi multiple domains 1							88.0	83.0	85.0					8																	3611456		1832	4085	5917	SO:0001583	missense	64478					integral to membrane		g.chr8:3611456G>C			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.927C>G	8.37:g.3611456G>C	ENSP00000430733:p.Phe309Leu					CSMD1_ENST00000537824.1_Missense_Mutation_p.F309L|CSMD1_ENST00000520002.1_Missense_Mutation_p.F309L|CSMD1_ENST00000602723.1_Missense_Mutation_p.F309L|CSMD1_ENST00000400186.3_Missense_Mutation_p.F309L|CSMD1_ENST00000542608.1_Missense_Mutation_p.F309L|CSMD1_ENST00000539096.1_Missense_Mutation_p.F309L	p.F309L			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	6	1482	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	309			CUB 2.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.927C>G		.	.	.	.	.	.	.	.	.	.	G	11.91	1.780727	0.31502	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	6.08	-1.13	0.09775	.	.	.	.	.	T	0.35335	0.0928	M	0.61703	1.905	0.35682	D	0.814128	P	0.34462	0.454	B	0.34931	0.192	T	0.51545	-0.8692	9	0.66056	D	0.02	.	13.2266	0.59919	0.4072:0.0:0.5928:0.0	.	309	E5RIG2	.	L	309;309;171;309;309;309	ENSP00000383047:F309L;ENSP00000430733:F309L;ENSP00000441462:F309L;ENSP00000446243:F309L;ENSP00000441675:F309L	ENSP00000320445:F171L	F	-	3	2	CSMD1	3598864	1.000000	0.71417	0.997000	0.53966	0.153000	0.21895	1.015000	0.29963	-0.116000	0.11893	-0.469000	0.05056	TTC		0.403	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		8	200	0	0	0	1	0	8	200				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	725	0	0	0	1	0	6	725				
KRTAP19-5	337972	broad.mit.edu	37	21	31874370	31874370	+	Silent	SNP	G	G	A	rs367860556		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:31874370G>A	ENST00000334151.2	-	1	65	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	13						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572																																						ENST00000334151.2																			0				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						c.(37-39)taC>taT		keratin associated protein 19-5		G		1,4405	2.1+/-5.4	0,1,2202	141.0	117.0	125.0		39	-7.8	0.0	21		125	8,8592	6.4+/-24.3	0,8,4292	no	coding-synonymous	KRTAP19-5	NM_181611.1		0,9,6494	AA,AG,GG		0.093,0.0227,0.0692		13/73	31874370	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	337972					intermediate filament	protein binding	g.chr21:31874370G>A	AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.39C>T	21.37:g.31874370G>A							p.Y13Y	NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN			1	65	-			13					A4IF22	Silent	SNP	ENST00000334151.2	37	c.39C>T	CCDS13597.1																																																																																				0.572	KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2			5	418	0	0	0	1	0	5	418				
CACNA1C	775	broad.mit.edu	37	12	2676769	2676769	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:2676769G>A	ENST00000347598.4	+	13	1704	c.1704G>A	c.(1702-1704)acG>acA	p.T568T	CACNA1C_ENST00000399655.1_Silent_p.T568T|CACNA1C_ENST00000399644.1_Silent_p.T568T|CACNA1C_ENST00000399617.1_Silent_p.T568T|CACNA1C_ENST00000399621.1_Silent_p.T568T|CACNA1C_ENST00000399649.1_Silent_p.T568T|CACNA1C_ENST00000327702.7_Silent_p.T568T|CACNA1C_ENST00000399606.1_Silent_p.T568T|CACNA1C_ENST00000399634.1_Silent_p.T568T|CACNA1C_ENST00000399629.1_Silent_p.T568T|CACNA1C_ENST00000399601.1_Silent_p.T568T|CACNA1C_ENST00000480911.1_Silent_p.T568T|CACNA1C_ENST00000399641.1_Silent_p.T568T|CACNA1C_ENST00000399637.1_Silent_p.T568T|CACNA1C_ENST00000399595.1_Silent_p.T568T|CACNA1C_ENST00000399603.1_Silent_p.T568T|CACNA1C_ENST00000402845.3_Silent_p.T568T|CACNA1C_ENST00000406454.3_Silent_p.T568T|CACNA1C_ENST00000399638.1_Silent_p.T568T|CACNA1C_ENST00000399591.1_Silent_p.T568T|CACNA1C_ENST00000399597.1_Silent_p.T568T|CACNA1C_ENST00000344100.3_Silent_p.T568T|CACNA1C_ENST00000335762.5_Silent_p.T593T	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	568					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCCTGTTCACGGCAGAGATGC	0.622																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1702-1704)acG>acA		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						25.0	29.0	28.0					12																	2676769		2158	4282	6440	SO:0001819	synonymous_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2676769G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1704G>A	12.37:g.2676769G>A						CACNA1C_ENST00000399617.1_Silent_p.T568T|CACNA1C_ENST00000335762.5_Silent_p.T593T|CACNA1C_ENST00000399601.1_Silent_p.T568T|CACNA1C_ENST00000399644.1_Silent_p.T568T|CACNA1C_ENST00000399638.1_Silent_p.T568T|CACNA1C_ENST00000399603.1_Silent_p.T568T|CACNA1C_ENST00000399637.1_Silent_p.T568T|CACNA1C_ENST00000399597.1_Silent_p.T568T|CACNA1C_ENST00000480911.1_Silent_p.T568T|CACNA1C_ENST00000399595.1_Silent_p.T568T|CACNA1C_ENST00000344100.3_Silent_p.T568T|CACNA1C_ENST00000402845.3_Silent_p.T568T|CACNA1C_ENST00000406454.3_Silent_p.T568T|CACNA1C_ENST00000399629.1_Silent_p.T568T|CACNA1C_ENST00000399591.1_Silent_p.T568T|CACNA1C_ENST00000347598.4_Silent_p.T568T|CACNA1C_ENST00000399641.1_Silent_p.T568T|CACNA1C_ENST00000399606.1_Silent_p.T568T|CACNA1C_ENST00000399649.1_Silent_p.T568T|CACNA1C_ENST00000399634.1_Silent_p.T568T|CACNA1C_ENST00000399621.1_Silent_p.T568T|CACNA1C_ENST00000327702.7_Silent_p.T568T	p.T568T	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	13	1969	+			568					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	c.1704G>A	CCDS44788.1																																																																																				0.622	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		8	48	0	0	0	1	0	8	48				
HNRNPM	4670	broad.mit.edu	37	19	8555235	8555235	+	IGR	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:8555235A>G	ENST00000325495.4	+	0	2494				PRAM1_ENST00000255612.3_Silent_p.D653D|PRAM1_ENST00000423345.4_Silent_p.D654D	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGAAGTCGACATCATCGTACA	0.667																																						ENST00000423345.4																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						c.(1960-1962)gaT>gaC		PML-RARA regulated adaptor molecule 1							62.0	69.0	67.0					19																	8555235		2170	4260	6430	SO:0001628	intergenic_variant	84106						lipid binding|protein binding	g.chr19:8555235A>G	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383		19.37:g.8555235A>G						PRAM1_ENST00000255612.3_Silent_p.D653D	p.D654D			Q96QH2	PRAM_HUMAN			9	2482	-			702			SH3.		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Silent	SNP	ENST00000325495.4	37	c.1962T>C	CCDS12203.1																																																																																				0.667	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			4	189	0	0	0	1	0	4	189				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		9	60	1	0	2.17888e-05	1	2.27889e-05	9	60				
MACROD2	140733	broad.mit.edu	37	20	14066290	14066290	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:14066290C>A	ENST00000310348.4	+	3	187	c.187C>A	c.(187-189)Cag>Aag	p.Q63K	MACROD2_ENST00000217246.4_Missense_Mutation_p.Q63K			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	63	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GGAAACATCCCAGGTGAAGAA	0.303																																						ENST00000217246.4																			0				breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20						c.(187-189)Cag>Aag		MACRO domain containing 2							75.0	69.0	71.0					20																	14066290		1802	4058	5860	SO:0001583	missense	140733							g.chr20:14066290C>A	BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.187C>A	20.37:g.14066290C>A	ENSP00000309809:p.Gln63Lys					MACROD2_ENST00000310348.4_Missense_Mutation_p.Q63K	p.Q63K	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN			3	582	+		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)	63			Macro.		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	ENST00000310348.4	37	c.187C>A	CCDS13120.2	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964644	0.18583	.	.	ENSG00000172264	ENST00000217246;ENST00000310348	T;T	0.41065	1.01;1.01	5.5	3.49	0.39957	Appr-1-p processing (1);	0.742732	0.12798	N	0.438261	T	0.26882	0.0658	N	0.12961	0.28	0.80722	D	1	B;B	0.20261	0.043;0.003	B;B	0.22601	0.04;0.001	T	0.03193	-1.1062	10	0.12430	T	0.62	-0.6026	13.7845	0.63102	0.0:0.7057:0.2943:0.0	.	63;63	A1Z1Q3;A1Z1Q3-2	MACD2_HUMAN;.	K	63	ENSP00000217246:Q63K;ENSP00000309809:Q63K	ENSP00000217246:Q63K	Q	+	1	0	MACROD2	14014290	1.000000	0.71417	0.637000	0.29366	0.946000	0.59487	1.193000	0.32162	0.646000	0.30693	-0.291000	0.09656	CAG		0.303	MACROD2-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_080676		5	280	1	0	0.000602214	1	0.000619698	5	280				
FDXR	2232	broad.mit.edu	37	17	72860052	72860052	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:72860052G>A	ENST00000293195.5	-	10	1218	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	FDXR_ENST00000581530.1_Silent_p.I386I|FDXR_ENST00000420580.2_Silent_p.I340I|FDXR_ENST00000455107.2_Missense_Mutation_p.S363F|FDXR_ENST00000442102.2_Silent_p.I423I|FDXR_ENST00000544854.1_Silent_p.I328I|FDXR_ENST00000413947.2_Silent_p.I411I|FDXR_ENST00000581969.1_5'Flank|FDXR_ENST00000583917.1_Silent_p.I352I|FDXR_ENST00000582944.1_Silent_p.I372I|GRIN2C_ENST00000578159.1_5'Flank	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	380					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCACATTGGGGATGACCCCAA	0.587																																						ENST00000455107.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(1087-1089)tCc>tTc		ferredoxin reductase							100.0	96.0	97.0					17																	72860052		2203	4300	6503	SO:0001819	synonymous_variant	2232				cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding	g.chr17:72860052G>A	J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.1140C>T	17.37:g.72860052G>A						FDXR_ENST00000413947.2_Silent_p.I411I|FDXR_ENST00000581530.1_Silent_p.I386I|FDXR_ENST00000583917.1_Silent_p.I352I|FDXR_ENST00000582944.1_Silent_p.I372I|FDXR_ENST00000544854.1_Silent_p.I328I|FDXR_ENST00000420580.2_Silent_p.I340I|FDXR_ENST00000293195.5_Silent_p.I380I|FDXR_ENST00000442102.2_Silent_p.I423I	p.S363F			P22570	ADRO_HUMAN			10	1504	-	all_lung(278;0.172)|Lung NSC(278;0.207)		0					B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	ENST00000293195.5	37	c.1088C>T	CCDS58593.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953623	0.34471	.	.	ENSG00000161513	ENST00000455107	T	0.17213	2.29	4.29	1.15	0.20763	.	.	.	.	.	T	0.21921	0.0528	.	.	.	0.24306	N	0.995106	.	.	.	.	.	.	T	0.17623	-1.0363	6	0.87932	D	0	-10.5751	9.0312	0.36260	0.2489:0.0:0.7511:0.0	.	.	.	.	F	363	ENSP00000390875:S363F	ENSP00000390875:S363F	S	-	2	0	FDXR	70371647	0.803000	0.28956	0.997000	0.53966	0.961000	0.63080	-0.161000	0.10026	0.002000	0.14630	-0.258000	0.10820	TCC		0.587	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000444449.1	NM_004110		60	606	0	0	0	1	0	60	606				
KEL	3792	broad.mit.edu	37	7	142650922	142650922	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:142650922A>T	ENST00000355265.2	-	9	1520	c.1046T>A	c.(1045-1047)cTg>cAg	p.L349Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	349					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CTCCTCCACCAGTTGTGACAT	0.532																																						ENST00000355265.2																			0				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60						c.(1045-1047)cTg>cAg		Kell blood group, metallo-endopeptidase							257.0	259.0	258.0					7																	142650922		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650922A>T	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1046T>A	7.37:g.142650922A>T	ENSP00000347409:p.Leu349Gln					KEL_ENST00000479768.2_5'UTR	p.L349Q	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN			9	1520	-	Melanoma(164;0.059)		349					B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1046T>A	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	A	32	5.145578	0.94603	.	.	ENSG00000197993	ENST00000355265	T	0.79749	-1.3	5.78	5.78	0.91487	Peptidase M13 (1);	0.373489	0.19519	N	0.112338	D	0.87107	0.6095	M	0.77103	2.36	0.19775	N	0.999952	D	0.64830	0.994	P	0.57244	0.816	T	0.81616	-0.0852	10	0.62326	D	0.03	-6.0103	12.5517	0.56229	1.0:0.0:0.0:0.0	.	349	P23276	KELL_HUMAN	Q	349	ENSP00000347409:L349Q	ENSP00000347409:L349Q	L	-	2	0	KEL	142361044	0.860000	0.29831	0.668000	0.29813	0.674000	0.39518	4.779000	0.62375	2.225000	0.72522	0.392000	0.25879	CTG		0.532	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2	NM_000420		10	1739	0	0	0	1	0	10	1739				
DGKK	139189	broad.mit.edu	37	X	50213427	50213427	+	RNA	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:50213427T>A	ENST00000376025.2	-	0	310							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					tgtggctggttctggggtcgg	0.642																																						ENST00000376025.2																			0				central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45								diacylglycerol kinase, kappa							77.0	90.0	86.0					X																	50213427		1869	4079	5948			139189				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chrX:50213427T>A	AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213427T>A										Q5KSL6	DGKK_HUMAN			0	310	-	Ovarian(276;0.236)							B2RP91	RNA	SNP	ENST00000376025.2	37																																																																																						0.642	DGKK-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000368187.1	NM_001013742		8	652	0	0	0	1	0	8	652				
FAM13B	51306	broad.mit.edu	37	5	137289964	137289964	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:137289964C>T	ENST00000033079.3	-	14	1994	c.1543G>A	c.(1543-1545)Gac>Aac	p.D515N	FAM13B_ENST00000420893.2_Missense_Mutation_p.D515N|FAM13B_ENST00000425075.2_Missense_Mutation_p.D419N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	515					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(4)|kidney(2)|lung(5)	11						GGAGGACAGTCCTCTTCCAAG	0.468																																						ENST00000033079.3																			0				endometrium(4)|kidney(2)|lung(5)	11						c.(1543-1545)Gac>Aac		family with sequence similarity 13, member B							103.0	101.0	102.0					5																	137289964		2203	4300	6503	SO:0001583	missense	0				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:137289964C>T	AF251038	CCDS4195.1, CCDS47269.1, CCDS47270.1	5q31	2011-09-07	2009-01-20	2009-01-20	ENSG00000031003	ENSG00000031003		"""Rho GTPase activating proteins"""	1335	protein-coding gene	gene with protein product		609371	"""chromosome 5 open reading frame 5"", ""family with sequence similarity 13, member B1"""	C5orf5, FAM13B1		11087669, 11161817	Standard	NM_016603		Approved	N61, KHCHP, ARHGAP49	uc003lbz.2	Q9NYF5	OTTHUMG00000129202	ENST00000033079.3:c.1543G>A	5.37:g.137289964C>T	ENSP00000033079:p.Asp515Asn					FAM13B_ENST00000420893.2_Missense_Mutation_p.D515N|FAM13B_ENST00000425075.2_Missense_Mutation_p.D419N	p.D515N	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN			14	1994	-			515					D3DQB5|G3V0H9|Q3ZCR0|Q6PGQ2|Q9P0I7	Missense_Mutation	SNP	ENST00000033079.3	37	c.1543G>A	CCDS4195.1	.	.	.	.	.	.	.	.	.	.	C	33	5.263752	0.95399	.	.	ENSG00000031003	ENST00000033079;ENST00000425075;ENST00000420893	D;T;D	0.95447	-3.71;1.1;-3.71	5.49	5.49	0.81192	.	0.103535	0.64402	D	0.000004	D	0.97498	0.9181	M	0.78049	2.395	0.58432	D	0.999998	D;D;D	0.71674	0.996;0.998;0.992	D;D;P	0.65573	0.936;0.917;0.864	D	0.98063	1.0394	10	0.87932	D	0	-10.3651	18.3606	0.90372	0.0:1.0:0.0:0.0	.	419;515;515	G3V0H9;Q9NYF5-2;Q9NYF5	.;.;FA13B_HUMAN	N	515;419;515	ENSP00000033079:D515N;ENSP00000394669:D419N;ENSP00000388521:D515N	ENSP00000033079:D515N	D	-	1	0	FAM13B	137317863	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.787000	0.75099	2.576000	0.86940	0.585000	0.79938	GAC		0.468	FAM13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251279.1			39	281	0	0	0	1	0	39	281				
HIST1H4C	8364	broad.mit.edu	37	6	26104209	26104209	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26104209G>C	ENST00000377803.2	+	1	106	c.34G>C	c.(34-36)Ggg>Cgg	p.G12R		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	12					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						AAAAGGCTTGGGGAAGGGTGG	0.532																																						ENST00000377803.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						c.(34-36)Ggg>Cgg		histone cluster 1, H4c							59.0	60.0	60.0					6																	26104209		2203	4300	6503	SO:0001583	missense	8364				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26104209G>C	X60486	CCDS4583.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000197061	ENSG00000197061		"""Histones / Replication-dependent"""	4787	protein-coding gene	gene with protein product		602827	"""H4 histone family, member G"", ""histone 1, H4c"""	H4FG		9119399, 12408966	Standard	NM_003542		Approved	H4/g, dJ221C16.1	uc003ngi.3	P62805	OTTHUMG00000014429	ENST00000377803.2:c.34G>C	6.37:g.26104209G>C	ENSP00000367034:p.Gly12Arg						p.G12R	NM_003542.3	NP_003533.1	P62805	H4_HUMAN			1	106	+			12					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377803.2	37	c.34G>C	CCDS4583.1	.	.	.	.	.	.	.	.	.	.	.	19.50	3.839620	0.71488	.	.	ENSG00000197061	ENST00000377803	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.69833	0.3155	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72459	-0.4287	6	0.56958	D	0.05	.	16.8752	0.86050	0.0:0.0:1.0:0.0	.	.	.	.	R	12	.	ENSP00000367034:G12R	G	+	1	0	HIST1H4C	26212188	1.000000	0.71417	0.104000	0.21259	0.029000	0.11900	9.645000	0.98471	2.538000	0.85594	0.561000	0.74099	GGG		0.532	HIST1H4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040092.2	NM_003542		6	315	0	0	0	1	0	6	315				
ATP4A	495	broad.mit.edu	37	19	36043993	36043993	+	Silent	SNP	C	C	T	rs200535073		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:36043993C>T	ENST00000262623.3	-	18	2725	c.2697G>A	c.(2695-2697)gcG>gcA	p.A899A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	899					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CCTCCCACTGCGCCCGCAGCC	0.647																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(2695-2697)gcG>gcA		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						93.0	89.0	90.0					19																	36043993		2203	4300	6503	SO:0001819	synonymous_variant	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36043993C>T		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2697G>A	19.37:g.36043993C>T							p.A899A	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		18	2725	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		899					O00738	Silent	SNP	ENST00000262623.3	37	c.2697G>A	CCDS12467.1																																																																																				0.647	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		38	619	0	0	0	1	0	38	619				
KRTAP5-5	439915	broad.mit.edu	37	11	1651162	1651162	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:1651162G>T	ENST00000399676.2	+	1	130	c.92G>T	c.(91-93)tGt>tTt	p.C31F		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	31				C -> R (in Ref. 1; BAD20201 and 2; CAF31639). {ECO:0000305}.		keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		tgtggaggctgtggctctggc	0.716																																						ENST00000399676.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33						c.(91-93)tGt>tTt		keratin associated protein 5-5							22.0	33.0	29.0					11																	1651162		2072	4152	6224	SO:0001583	missense	439915					keratin filament		g.chr11:1651162G>T	AB125074	CCDS41592.1	11p15.5	2008-10-30			ENSG00000185940	ENSG00000185940		"""Keratin associated proteins"""	23601	protein-coding gene	gene with protein product						15144888	Standard	NM_001001480		Approved	KRTAP5.5, KRTAP5-11	uc001lty.3	Q701N2	OTTHUMG00000057554	ENST00000399676.2:c.92G>T	11.37:g.1651162G>T	ENSP00000382584:p.Cys31Phe						p.C31F	NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	130	+		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	31	C -> R (in Ref. 1; BAD20201 and 2; CAF31639).				A8MWN2	Missense_Mutation	SNP	ENST00000399676.2	37	c.92G>T	CCDS41592.1	.	.	.	.	.	.	.	.	.	.	G	2.744	-0.261628	0.05791	.	.	ENSG00000185940	ENST00000399676;ENST00000422553	T	0.02067	4.47	2.25	-0.0385	0.13880	.	.	.	.	.	T	0.04861	0.0131	M	0.84773	2.715	0.09310	N	1	P	0.44734	0.842	B	0.41571	0.36	T	0.22661	-1.0210	9	0.46703	T	0.11	.	7.6289	0.28228	0.0:0.5258:0.4742:0.0	.	31	Q701N2	KRA55_HUMAN	F	31;29	ENSP00000382584:C31F	ENSP00000382584:C31F	C	+	2	0	KRTAP5-5	1607738	0.996000	0.38824	0.001000	0.08648	0.090000	0.18270	3.139000	0.50577	0.010000	0.14839	0.448000	0.29417	TGT		0.716	KRTAP5-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127919.1			6	295	1	0	0.217242	1	0.218613	6	295				
TP53	7157	broad.mit.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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"""		219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	p.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(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	CM010464|CM900209	TP53	M	rs121912656	c.(733-735)gGc>gAc	Other conserved DNA damage response genes	tumor protein p53							151.0	113.0	126.0					17																	7577547		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577547C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp	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_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000269305.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000359597.4_Missense_Mutation_p.G245D	p.G245D	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)	7	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.734G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		170	117	0	0	0	1	0	170	117				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			5	259	0	0	0	1	0	5	259				
PDE1B	5153	broad.mit.edu	37	12	54960852	54960852	+	Missense_Mutation	SNP	G	G	A	rs200096201		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:54960852G>A	ENST00000243052.3	+	3	644	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.V50I|PDE1B_ENST00000538346.1_Missense_Mutation_p.V29I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	70					activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GCTGGAAGCCGTCTACATAGA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19747	0.0		0.001	False		,,,				2504	0.0					ENST00000243052.3																			0				endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						c.(208-210)Gtc>Atc		phosphodiesterase 1B, calmodulin-dependent		G	ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	82.0	80.0	81.0		208,148	4.1	1.0	12		81	0,8600		0,0,4300	no	missense,missense	PDE1B	NM_000924.3,NM_001165975.2	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	70/537,50/517	54960852	1,13005	2203	4300	6503	SO:0001583	missense	0				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54960852G>A	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.208G>A	12.37:g.54960852G>A	ENSP00000243052:p.Val70Ile					PDE1B_ENST00000538346.1_Missense_Mutation_p.V29I|PDE1B_ENST00000550620.1_Missense_Mutation_p.V50I|PDE1B_ENST00000394277.3_3'UTR	p.V70I	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN			3	644	+			70					Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.208G>A	CCDS8882.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	14.79	2.639096	0.47153	2.27E-4	0.0	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	T;T;T	0.70516	-0.49;-0.44;-0.46	4.08	4.08	0.47627	.	0.160006	0.40728	N	0.001029	T	0.67373	0.2886	L	0.58510	1.815	0.40336	D	0.978986	P;P	0.50156	0.921;0.932	B;B	0.42214	0.38;0.332	T	0.73266	-0.4037	10	0.49607	T	0.09	.	14.5926	0.68378	0.0:0.0:1.0:0.0	.	50;70	Q01064-2;Q01064	.;PDE1B_HUMAN	I	70;29;50	ENSP00000243052:V70I;ENSP00000442559:V29I;ENSP00000448519:V50I	ENSP00000243052:V70I	V	+	1	0	PDE1B	53247119	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	7.482000	0.81143	2.560000	0.86352	0.561000	0.74099	GTC		0.478	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			10	83	0	0	0	1	0	10	83				
PRG4	10216	broad.mit.edu	37	1	186276567	186276567	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:186276567C>T	ENST00000445192.2	+	7	1761	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	PRG4_ENST00000367486.3_Silent_p.T529T|PRG4_ENST00000367483.4_Silent_p.T531T|PRG4_ENST00000367485.4_Silent_p.T479T|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	572	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1714-1716)acC>acT		proteoglycan 4							98.0	99.0	99.0					1																	186276567		2203	4297	6500	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276567C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1716C>T	1.37:g.186276567C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T479T|PRG4_ENST00000367486.3_Silent_p.T529T|PRG4_ENST00000367483.4_Silent_p.T531T	p.T572T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1761	+			572			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1716C>T	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		5	326	0	0	0	1	0	5	326				
SLC26A9	115019	broad.mit.edu	37	1	205904836	205904836	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:205904836C>T	ENST00000367135.3	-	2	226	c.113G>A	c.(112-114)cGc>cAc	p.R38H	SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38H|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	38					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|positive regulation of gene expression (GO:0010628)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|ATPase binding (GO:0051117)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|secondary active sulfate transmembrane transporter activity (GO:0008271)			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAAGGCATTGCGAAGTTTCTC	0.552																																						ENST00000367135.3																			0				NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52						c.(112-114)cGc>cAc		solute carrier family 26 (anion exchanger), member 9							225.0	196.0	206.0					1																	205904836		2203	4300	6503	SO:0001583	missense	115019					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity	g.chr1:205904836C>T	AF331525	CCDS30989.1, CCDS30990.1	1q32.1	2013-07-18	2013-07-18		ENSG00000174502	ENSG00000174502		"""Solute carriers"""	14469	protein-coding gene	gene with protein product	"""anion transporter/exchanger-9"""	608481	"""solute carrier family 26, member 9"""			11834742	Standard	NM_134325		Approved		uc001hdp.3	Q7LBE3	OTTHUMG00000036001	ENST00000367135.3:c.113G>A	1.37:g.205904836C>T	ENSP00000356103:p.Arg38His					SLC26A9_ENST00000340781.4_Missense_Mutation_p.R38H|RP4-681L3.2_ENST00000421166.1_RNA|SLC26A9_ENST00000367134.2_Missense_Mutation_p.R38H	p.R38H	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0458)		2	226	-	Breast(84;0.201)		38					A7E2V6|B1AVM8|B1AVM9|B7ZKK2|Q96PK9|Q96RN0	Missense_Mutation	SNP	ENST00000367135.3	37	c.113G>A	CCDS30990.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.695849	0.68386	.	.	ENSG00000174502	ENST00000340781;ENST00000367135;ENST00000367134	D;D;D	0.93488	-3.23;-3.19;-3.23	5.45	4.53	0.55603	.	0.369254	0.23912	N	0.043340	D	0.90164	0.6926	L	0.50333	1.59	0.26968	N	0.965652	D;D	0.58268	0.964;0.982	B;P	0.45276	0.425;0.475	D	0.83690	0.0176	10	0.37606	T	0.19	.	7.4467	0.27215	0.1589:0.7295:0.0:0.1117	.	38;38	Q7LBE3;B1AVM8	S26A9_HUMAN;.	H	38	ENSP00000341682:R38H;ENSP00000356103:R38H;ENSP00000356102:R38H	ENSP00000341682:R38H	R	-	2	0	SLC26A9	204171459	0.753000	0.28349	0.936000	0.37596	0.995000	0.86356	0.571000	0.23669	1.293000	0.44690	0.655000	0.94253	CGC		0.552	SLC26A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087742.1	NM_052934		35	316	0	0	0	1	0	35	316				
OR8H3	390152	broad.mit.edu	37	11	55890089	55890089	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:55890089A>G	ENST00000313472.3	+	1	241	c.241A>G	c.(241-243)Aaa>Gaa	p.K81E		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	81						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					CGTCACACCTAAAACCTTAGC	0.428																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(241-243)Aaa>Gaa		olfactory receptor, family 8, subfamily H, member 3							294.0	290.0	291.0					11																	55890089		2201	4294	6495	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55890089A>G	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.241A>G	11.37:g.55890089A>G	ENSP00000323928:p.Lys81Glu						p.K81E	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	241	+	Esophageal squamous(21;0.00693)		81					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.241A>G	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	A	15.59	2.878942	0.51801	.	.	ENSG00000181761	ENST00000313472	T	0.01347	4.99	3.44	2.16	0.27623	GPCR, rhodopsin-like superfamily (1);	0.221905	0.32273	N	0.006329	T	0.06917	0.0176	M	0.93197	3.39	0.30080	N	0.80929	P	0.50943	0.94	P	0.52424	0.698	T	0.01729	-1.1286	10	0.87932	D	0	.	9.3624	0.38203	0.8198:0.1802:0.0:0.0	.	81	Q8N146	OR8H3_HUMAN	E	81	ENSP00000323928:K81E	ENSP00000323928:K81E	K	+	1	0	OR8H3	55646665	0.374000	0.25081	0.991000	0.47740	0.259000	0.26198	4.051000	0.57412	1.325000	0.45301	0.145000	0.16022	AAA		0.428	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		131	1141	0	0	0	1	0	131	1141				
GLRA4	441509	broad.mit.edu	37	X	102974161	102974161	+	Missense_Mutation	SNP	G	G	A	rs200072403		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:102974161G>A	ENST00000372617.4	-	7	1177	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	GLRA4_ENST00000469567.1_5'Flank	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	253						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCCATCTGCCGTTCCAGGTGA	0.557																																						ENST00000372617.4																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(757-759)Cgg>Tgg		glycine receptor, alpha 4		G	TRP/ARG,TRP/ARG	0,3835		0,0,0,1632,571	136.0	139.0	138.0		757,757	3.7	1.0	X		138	2,6725		0,1,1,2427,1870	no	missense,missense	GLRA4	NM_001024452.2,NM_001172285.1	101,101	0,1,1,4059,2441	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging,probably-damaging	253/418,253/343	102974161	2,10560	2203	4299	6502	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102974161G>A	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.757C>T	X.37:g.102974161G>A	ENSP00000361700:p.Arg253Trp						p.R253W	NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN			7	1177	-			253						Missense_Mutation	SNP	ENST00000372617.4	37	c.757C>T	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624096	0.66901	0.0	2.97E-4	ENSG00000188828	ENST00000372617	D	0.96830	-4.14	5.5	3.71	0.42584	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.98485	0.9495	H	0.96576	3.845	0.48830	D	0.999719	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97601	1.0123	10	0.87932	D	0	.	8.104	0.30874	0.0:0.1517:0.5292:0.3191	.	253;212	Q5JXX5;B9WSA6	GLRA4_HUMAN;.	W	253	ENSP00000361700:R253W	ENSP00000361700:R253W	R	-	1	2	GLRA4	102860817	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	0.956000	0.29202	0.592000	0.29728	0.600000	0.82982	CGG		0.557	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		7	608	0	0	0	1	0	7	608				
OR52R1	119695	broad.mit.edu	37	11	4824814	4824814	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:4824814C>T	ENST00000356069.2	-	1	796	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.R345H	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCCAAAGCGGTAGGTGAG	0.473																																						ENST00000380382.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29						c.(1033-1035)cGc>cAc		olfactory receptor, family 52, subfamily R, member 1							130.0	133.0	132.0					11																	4824814		2201	4298	6499	SO:0001583	missense	119695				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4824814C>T	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.797G>A	11.37:g.4824814C>T	ENSP00000348368:p.Arg266His					MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.R266H	p.R345H			Q8NGF1	O52R1_HUMAN		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	1033	-		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)	266					Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	37	c.1034G>A	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116717	0.37339	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.37235	1.21;1.21	5.57	4.66	0.58398	GPCR, rhodopsin-like superfamily (1);	0.129160	0.35378	N	0.003244	T	0.67021	0.2849	M	0.92026	3.265	0.23314	N	0.997929	D	0.89917	1.0	D	0.72075	0.976	T	0.66212	-0.5980	10	0.72032	D	0.01	.	14.9152	0.70792	0.1437:0.8563:0.0:0.0	.	266	Q8NGF1	O52R1_HUMAN	H	266;345	ENSP00000348368:R266H;ENSP00000369742:R345H	ENSP00000348368:R266H	R	-	2	0	OR52R1	4781390	0.000000	0.05858	0.977000	0.42913	0.016000	0.09150	0.035000	0.13797	1.566000	0.49654	0.650000	0.86243	CGC		0.473	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177		8	580	0	0	0	1	0	8	580				
BSND	7809	broad.mit.edu	37	1	55464881	55464881	+	Missense_Mutation	SNP	C	C	T	rs74315285		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:55464881C>T	ENST00000371265.4	+	1	276	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	8			R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER). {ECO:0000269|PubMed:11687798}.|R -> W (in BS4A; completely abolishes CLCNKA activation; dbSNP:rs74315285). {ECO:0000269|PubMed:11687798}.		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GAAGACCTTCCGGATCGGCTT	0.622													C|||	1	0.000199681	0.0	0.0	5008	,	,		18103	0.001		0.0	False		,,,				2504	0.0				Ovarian(191;1657 2078 22894 42033 48899)	ENST00000371265.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	GRCh37	CM013302	BSND	M	rs74315285	c.(22-24)Cgg>Tgg		Bartter syndrome, infantile, with sensorineural deafness (Barttin)							101.0	98.0	99.0					1																	55464881		2203	4300	6503	SO:0001583	missense	7809					basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex		g.chr1:55464881C>T	AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.22C>T	1.37:g.55464881C>T	ENSP00000360312:p.Arg8Trp						p.R8W	NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN			1	276	+			8		R -> L (in BS4A; completely abolishes CLCNKA activation; mutated protein fails to increase surface expression of CLCNKA; intracellular localization; probably retained in the ER).|R -> W (in BS4A; completely abolishes CLCNKA activation).			Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	c.22C>T	CCDS602.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	19.83	3.899629	0.72754	.	.	ENSG00000162399	ENST00000371265	D	0.93953	-3.32	4.44	4.44	0.53790	.	0.000000	0.52532	D	0.000068	D	0.96247	0.8776	M	0.72118	2.19	0.45194	A	0.998209	D	0.89917	1.0	D	0.97110	1.0	D	0.96945	0.9690	9	0.87932	D	0	-16.4644	17.0268	0.86450	0.0:1.0:0.0:0.0	.	8	Q8WZ55	BSND_HUMAN	W	8	ENSP00000360312:R8W	ENSP00000360312:R8W	R	+	1	2	BSND	55237469	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.106000	0.50322	2.194000	0.70268	0.478000	0.44815	CGG		0.622	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		14	420	0	0	0	1	0	14	420				
FRYL	285527	broad.mit.edu	37	4	48563497	48563497	+	Missense_Mutation	SNP	C	C	T	rs200059812	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:48563497C>T	ENST00000503238.1	-	30	3852	c.3853G>A	c.(3853-3855)Gcc>Acc	p.A1285T	FRYL_ENST00000507711.1_Missense_Mutation_p.A1285T|FRYL_ENST00000358350.4_Missense_Mutation_p.A1285T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.A1285T			O94915	FRYL_HUMAN	FRY-like	1285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGAATATGGCGAGAGTTAGC	0.358																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(3853-3855)Gcc>Acc		FRY-like		C	THR/ALA	3,3759		0,3,1878	90.0	85.0	87.0		3853	5.8	1.0	4		87	37,8175		0,37,4069	yes	missense	FRYL	NM_015030.1	58	0,40,5947	TT,TC,CC		0.4506,0.0797,0.3341	benign	1285/3014	48563497	40,11934	1881	4106	5987	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48563497C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.3853G>A	4.37:g.48563497C>T	ENSP00000426064:p.Ala1285Thr					FRYL_ENST00000503238.1_Missense_Mutation_p.A1285T|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Missense_Mutation_p.A1285T|FRYL_ENST00000537810.1_Missense_Mutation_p.A1285T	p.A1285T	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			33	4457	-			1285					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.3853G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.32|15.32	2.798330|2.798330	0.50208|0.50208	7.97E-4|7.97E-4	0.004506|0.004506	ENSG00000075539|ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711|ENST00000514617	T;T;T;T|.	0.41065|.	2.01;2.01;2.01;1.01|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Armadillo-type fold (1);|.	0.244684|.	0.42682|.	D|.	0.000664|.	T|T	0.50973|0.50973	0.1647|0.1647	N|N	0.12182|0.12182	0.205|0.205	0.80722|0.80722	D|D	1|1	P;B;B|.	0.35844|.	0.524;0.093;0.398|.	B;B;B|.	0.30855|.	0.121;0.058;0.103|.	T|T	0.44050|0.44050	-0.9353|-0.9353	10|5	0.13853|.	T|.	0.58|.	.|.	20.1013|20.1013	0.97878|0.97878	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1285;116;1285|.	F2Z2S2;Q6ZR29;O94915|.	.;.;FRYL_HUMAN|.	T|H	1285|155	ENSP00000426064:A1285T;ENSP00000351113:A1285T;ENSP00000441114:A1285T;ENSP00000421584:A1285T|.	ENSP00000351113:A1285T|.	A|R	-|-	1|2	0|0	FRYL|FRYL	48258254|48258254	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.066000|0.066000	0.16364|0.16364	5.909000|5.909000	0.69923|0.69923	2.748000|2.748000	0.94277|0.94277	0.655000|0.655000	0.94253|0.94253	GCC|CGC		0.358	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			245	158	0	0	0	1	0	245	158				
DGKB	1607	broad.mit.edu	37	7	14620499	14620499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:14620499G>A	ENST00000403951.2	-	19	2019	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	534	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CCTCCCCATCGCAGGCATCTT	0.428																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1600-1602)Cga>Tga		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						81.0	76.0	78.0					7																	14620499		1957	4172	6129	SO:0001587	stop_gained	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14620499G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.1600C>T	7.37:g.14620499G>A	ENSP00000385780:p.Arg534*					DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Nonsense_Mutation_p.R534*|DGKB_ENST00000402815.1_Nonsense_Mutation_p.R533*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.R534*|DGKB_ENST00000444700.2_Nonsense_Mutation_p.R515*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.R526*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.R534*	p.R534*			Q9Y6T7	DGKB_HUMAN			19	2019	-			534			DAGKc.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Nonsense_Mutation	SNP	ENST00000403951.2	37	c.1600C>T	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162631	0.98107	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	.	.	.	5.77	4.82	0.62117	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4202	0.49976	0.0:0.0:0.6084:0.3916	.	.	.	.	X	534;534;534;533;526;515;534	.	ENSP00000258767:R534X	R	-	1	2	DGKB	14587024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.030000	0.70903	2.718000	0.92993	0.591000	0.81541	CGA		0.428	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		81	492	0	0	0	1	0	81	492				
ABCA12	26154	broad.mit.edu	37	2	215848571	215848571	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:215848571C>T	ENST00000272895.7	-	29	4401	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L	ABCA12_ENST00000389661.4_Silent_p.L1076L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1394	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGGCCCCAAACAGCCCAGTTA	0.403																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(4180-4182)ctG>ctA		ATP-binding cassette, sub-family A (ABC1), member 12							90.0	85.0	86.0					2																	215848571		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215848571C>T	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4182G>A	2.37:g.215848571C>T						ABCA12_ENST00000389661.4_Silent_p.L1076L	p.L1394L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	29	4401	-		Renal(323;0.127)	1394			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.4182G>A	CCDS33372.1																																																																																				0.403	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		62	114	0	0	0	1	0	62	114				
MYO3A	53904	broad.mit.edu	37	10	26377224	26377224	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:26377224T>C	ENST00000265944.5	+	15	1618	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S	MYO3A_ENST00000543632.1_Silent_p.S484S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	484	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATGACAATTCTAGCAGATTTG	0.378																																						ENST00000265944.5																			0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(1450-1452)tcT>tcC		myosin IIIA							64.0	67.0	66.0					10																	26377224		2203	4300	6503	SO:0001819	synonymous_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26377224T>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1452T>C	10.37:g.26377224T>C						MYO3A_ENST00000543632.1_Silent_p.S484S	p.S484S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			15	1618	+			484			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	c.1452T>C	CCDS7148.1																																																																																				0.378	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		5	300	0	0	0	1	0	5	300				
PLEKHG1	57480	broad.mit.edu	37	6	151121990	151121990	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:151121990T>C	ENST00000358517.2	+	6	976	c.765T>C	c.(763-765)taT>taC	p.Y255Y	PLEKHG1_ENST00000367328.1_Silent_p.Y255Y			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	255	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TTCTCAAGTATCATCTCCTTC	0.448																																						ENST00000367328.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53						c.(763-765)taT>taC		pleckstrin homology domain containing, family G (with RhoGef domain) member 1							106.0	102.0	103.0					6																	151121990		2203	4300	6503	SO:0001819	synonymous_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121990T>C	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.765T>C	6.37:g.151121990T>C						PLEKHG1_ENST00000358517.2_Silent_p.Y255Y	p.Y255Y	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	1077	+			255			DH.		Q5T1F2	Silent	SNP	ENST00000358517.2	37	c.765T>C	CCDS34552.1																																																																																				0.448	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			9	316	0	0	0	1	0	9	316				
MIR124-2HG	100130155	broad.mit.edu	37	8	65291725	65291725	+	lincRNA	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:65291725C>A	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							AGAGGCTCTGCTCTCCGTGTT	0.527																																						ENST00000521441.1																			0																				72.0	71.0	71.0					8																	65291725		1568	3582	5150			0							g.chr8:65291725C>A																													8.37:g.65291725C>A						MIR124-2_ENST00000385081.1_RNA								0	655	+									RNA	SNP	ENST00000521441.1	37																																																																																						0.527	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1			5	244	1	0	0.248553	1	0.249334	5	244				
ZNF519	162655	broad.mit.edu	37	18	14105291	14105291	+	Silent	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:14105291A>G	ENST00000590202.1	-	3	1400	c.1248T>C	c.(1246-1248)gcT>gcC	p.A416A	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	416					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TAAGGTGTGAAGCTCTGTTAA	0.413																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1246-1248)gcT>gcC		zinc finger protein 519							86.0	86.0	86.0					18																	14105291		2203	4300	6503	SO:0001819	synonymous_variant	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105291A>G	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1248T>C	18.37:g.14105291A>G						ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.A416A	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1400	-			416						Silent	SNP	ENST00000590202.1	37	c.1248T>C	CCDS32797.1																																																																																				0.413	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	475	0	0	0	1	0	6	475				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|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_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|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		5	201	0	0	0	1	0	5	201				
TIGD5	84948	broad.mit.edu	37	8	144681662	144681662	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:144681662C>T	ENST00000504548.2	+	1	1589	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A481V|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	530						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGAGGTTGCGGAGTGGCTG	0.731																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1588-1590)gCg>gTg		tigger transposable element derived 5							11.0	13.0	12.0					8																	144681662		2168	4282	6450	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681662C>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1589C>T	8.37:g.144681662C>T	ENSP00000421489:p.Ala530Val					TIGD5_ENST00000321385.3_Missense_Mutation_p.A481V	p.A530V	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1589	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		530					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1589C>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766158	0.49574	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.36340	1.26;1.32	4.72	2.91	0.33838	.	0.000000	0.45361	U	0.000374	T	0.23370	0.0565	L	0.27053	0.805	0.09310	N	0.999993	B	0.19073	0.033	B	0.10450	0.005	T	0.15378	-1.0439	10	0.30854	T	0.27	.	9.7316	0.40363	0.0:0.8318:0.0:0.1682	.	481	Q53EQ6	TIGD5_HUMAN	V	530;481	ENSP00000421489:A530V;ENSP00000315906:A481V	ENSP00000315906:A481V	A	+	2	0	TIGD5	144752805	0.661000	0.27430	0.007000	0.13788	0.792000	0.44763	1.088000	0.30877	0.436000	0.26393	0.650000	0.86243	GCG		0.731	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		11	32	0	0	0	1	0	11	32				
NEK11	79858	broad.mit.edu	37	3	130881264	130881264	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:130881264C>T	ENST00000510769.1	+	7	913	c.660C>T	c.(658-660)atC>atT	p.I220I	NEK11_ENST00000508196.1_Silent_p.I325I|NEK11_ENST00000510688.1_Silent_p.I325I|NEK11_ENST00000356918.4_Silent_p.I325I|NEK11_ENST00000511262.1_Silent_p.I325I|NEK11_ENST00000412440.2_Silent_p.I177I|NEK11_ENST00000429253.2_Silent_p.I325I|NEK11_ENST00000383366.4_Silent_p.I325I|NEK11_ENST00000507910.1_Silent_p.I325I					NIMA-related kinase 11											breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						AAAAAAGGATCCACCTGCAGA	0.423																																						ENST00000383366.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						c.(973-975)atC>atT		NIMA-related kinase 11							140.0	162.0	154.0					3																	130881264		2203	4300	6503	SO:0001819	synonymous_variant	79858				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr3:130881264C>T	AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.660C>T	3.37:g.130881264C>T						NEK11_ENST00000511262.1_Silent_p.I325I|NEK11_ENST00000429253.2_Silent_p.I325I|NEK11_ENST00000510688.1_Silent_p.I325I|NEK11_ENST00000356918.4_Silent_p.I325I|NEK11_ENST00000507910.1_Silent_p.I325I|NEK11_ENST00000412440.2_Silent_p.I177I|NEK11_ENST00000508196.1_Silent_p.I325I|NEK11_ENST00000510769.1_Silent_p.I220I	p.I325I	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN			11	1268	+			325						Silent	SNP	ENST00000510769.1	37	c.975C>T																																																																																					0.423	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1	NM_024800		108	858	0	0	0	1	0	108	858				
ZNF519	162655	broad.mit.edu	37	18	14105287	14105287	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:14105287G>A	ENST00000590202.1	-	3	1404	c.1252C>T	c.(1252-1254)Cac>Tac	p.H418Y	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	418					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						TGAGTAAGGTGTGAAGCTCTG	0.408																																						ENST00000590202.1																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						c.(1252-1254)Cac>Tac		zinc finger protein 519							85.0	84.0	84.0					18																	14105287		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105287G>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1252C>T	18.37:g.14105287G>A	ENSP00000464872:p.His418Tyr					ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	p.H418Y	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN			3	1404	-			418						Missense_Mutation	SNP	ENST00000590202.1	37	c.1252C>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.342498	0.00222	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	-1.29	0.09288	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12475	0.0303	L	0.35723	1.085	0.09310	N	1	P	0.39424	0.673	B	0.18871	0.023	T	0.28996	-1.0026	8	0.06891	T	0.86	.	5.203	0.15275	0.0:0.0:0.6655:0.3344	.	418	Q8TB69	ZN519_HUMAN	Y	418	.	ENSP00000307908:H418Y	H	-	1	0	ZNF519	14095287	0.000000	0.05858	0.014000	0.15608	0.512000	0.34134	-9.502000	0.00011	-0.351000	0.08249	0.089000	0.15464	CAC		0.408	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		6	478	0	0	0	1	0	6	478				
RIMS2	9699	broad.mit.edu	37	8	105010418	105010418	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:105010418T>A	ENST00000436393.2	+	16	2625	c.2384T>A	c.(2383-2385)tTt>tAt	p.F795Y	RIMS2_ENST00000507740.1_Missense_Mutation_p.F809Y|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1079					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGCAGTCATTTTCTTACTCTA	0.333										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(2425-2427)tTt>tAt		regulating synaptic membrane exocytosis 2							144.0	124.0	130.0					8																	105010418		1861	4103	5964	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105010418T>A	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.2384T>A	8.37:g.105010418T>A	ENSP00000390665:p.Phe795Tyr	HNSCC(12;0.0054)				RIMS2_ENST00000436393.2_Missense_Mutation_p.F795Y|RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron	p.F809Y	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		15	2662	+			1076			C2 1.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.2426T>A		.	.	.	.	.	.	.	.	.	.	T	12.83	2.056567	0.36277	.	.	ENSG00000176406	ENST00000329869;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T	0.15718	2.49;2.4;2.8	4.81	3.58	0.41010	.	.	.	.	.	T	0.03695	0.0105	N	0.00707	-1.245	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32981	-0.9886	9	0.02654	T	1	.	7.4381	0.27166	0.3428:0.0:0.0:0.6572	.	795;809	D6RA03;Q9UQ26-3	.;.	Y	1032;809;809;795	ENSP00000423559:F809Y;ENSP00000386228:F809Y;ENSP00000390665:F795Y	ENSP00000332184:F1032Y	F	+	2	0	RIMS2	105079594	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.901000	0.39838	2.020000	0.59435	0.528000	0.53228	TTT		0.333	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		12	398	0	0	0	1	0	12	398				
DNM1P47	100216544	broad.mit.edu	37	15	102292822	102292822	+	RNA	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:102292822G>C	ENST00000561463.1	+	0	868									DNM1 pseudogene 47																		GTGGGAACGAGAAGACACTCG	0.597																																						ENST00000561463.1																			0																																																			0							g.chr15:102292822G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292822G>C														0	868	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	89	0	0	0	1	0	5	89				
OR2V2	285659	broad.mit.edu	37	5	180581955	180581955	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:180581955G>T	ENST00000328275.1	+	1	13	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAGACGTGGGTGAACCAGTC	0.493																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(13-15)Gtg>Ttg		olfactory receptor, family 2, subfamily V, member 2							207.0	166.0	180.0					5																	180581955		2203	4300	6503	SO:0001583	missense	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180581955G>T	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.13G>T	5.37:g.180581955G>T	ENSP00000332185:p.Val5Leu						p.V5L	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	13	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	5					Q6IFL6|Q8NGV1	Missense_Mutation	SNP	ENST00000328275.1	37	c.13G>T	CCDS4461.1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.247429	0.01469	.	.	ENSG00000182613	ENST00000328275	T	0.00304	8.19	3.38	-0.786	0.10946	.	2.338580	0.02173	N	0.059831	T	0.00109	0.0003	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	10	0.29301	T	0.29	.	4.2992	0.10916	0.0:0.132:0.4568:0.4113	.	5	Q96R30	OR2V2_HUMAN	L	5	ENSP00000332185:V5L	ENSP00000332185:V5L	V	+	1	0	OR2V2	180514561	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	-0.952000	0.03881	0.080000	0.16959	0.305000	0.20034	GTG		0.493	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			11	365	1	0	1.08611e-07	1	1.15876e-07	11	365				
MPDZ	8777	broad.mit.edu	37	9	13224583	13224583	+	Splice_Site	SNP	C	C	T	rs10960971		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:13224583C>T	ENST00000319217.7	-	4	431		c.e4-1		MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein						cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATATTTACCTAAGAGTAAT	0.333																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.e4-1		multiple PDZ domain protein							83.0	79.0	81.0					9																	13224583		1821	4090	5911	SO:0001630	splice_region_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13224583C>T	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.184-1G>A	9.37:g.13224583C>T						MPDZ_ENST00000546205.1_Splice_Site|MPDZ_ENST00000541718.1_Splice_Site|MPDZ_ENST00000447879.1_Splice_Site|MPDZ_ENST00000381015.4_Splice_Site|MPDZ_ENST00000536827.1_Splice_Site|MPDZ_ENST00000381022.2_Splice_Site		NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	4	431	-								A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Splice_Site	SNP	ENST00000319217.7	37			.	.	.	.	.	.	.	.	.	.	C	13.51	2.259354	0.39995	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2019	0.98263	0.0:1.0:0.0:0.0	rs10960971;rs10960971	.	.	.	.	-1	.	.	.	-	.	.	MPDZ	13214583	1.000000	0.71417	0.995000	0.50966	0.230000	0.25150	3.950000	0.56676	2.776000	0.95493	0.655000	0.94253	.		0.333	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	Intron	5	112	0	0	0	1	0	5	112				
MTNR1B	4544	broad.mit.edu	37	11	92715195	92715195	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:92715195G>T	ENST00000257068.2	+	2	812	c.806G>T	c.(805-807)tGc>tTc	p.C269F		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	269					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	CCACTTAACTGCATCGGCCTC	0.537																																						ENST00000257068.2																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33						c.(805-807)tGc>tTc		melatonin receptor 1B	Ramelteon(DB00980)						168.0	147.0	154.0					11																	92715195		2201	4298	6499	SO:0001583	missense	4544				G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	g.chr11:92715195G>T	AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.806G>T	11.37:g.92715195G>T	ENSP00000257068:p.Cys269Phe						p.C269F	NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN			2	812	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	269						Missense_Mutation	SNP	ENST00000257068.2	37	c.806G>T	CCDS8290.1	.	.	.	.	.	.	.	.	.	.	G	0.032	-1.325245	0.01309	.	.	ENSG00000134640	ENST00000257068	T	0.71222	-0.55	4.0	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.204737	0.43260	D	0.000596	T	0.34164	0.0888	N	0.00746	-1.225	0.35946	D	0.833547	B	0.02656	0.0	B	0.06405	0.002	T	0.31194	-0.9952	10	0.11182	T	0.66	-26.6567	10.5772	0.45233	0.0:0.0:0.3994:0.6006	.	269	P49286	MTR1B_HUMAN	F	269	ENSP00000257068:C269F	ENSP00000257068:C269F	C	+	2	0	MTNR1B	92354843	1.000000	0.71417	0.992000	0.48379	0.607000	0.37147	3.888000	0.56204	1.008000	0.39264	0.491000	0.48974	TGC		0.537	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394323.1			51	559	1	0	1.57914e-17	1	1.74307e-17	51	559				
CACNA2D2	9254	broad.mit.edu	37	3	50417244	50417244	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:50417244A>T	ENST00000479441.1	-	10	904	c.905T>A	c.(904-906)gTg>gAg	p.V302E	CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V302E|CACNA2D2_ENST00000435965.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V233E			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	302	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CAGGCCGCTCACACTGCCACT	0.587																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(904-906)gTg>gAg		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)						96.0	82.0	87.0					3																	50417244		2203	4300	6503	SO:0001583	missense	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50417244A>T	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.905T>A	3.37:g.50417244A>T	ENSP00000418081:p.Val302Glu					CACNA2D2_ENST00000395083.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000479441.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000429770.1_Missense_Mutation_p.V302E|CACNA2D2_ENST00000424201.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000423994.2_Missense_Mutation_p.V302E|CACNA2D2_ENST00000266039.3_Missense_Mutation_p.V302E|CACNA2D2_ENST00000360963.3_Missense_Mutation_p.V233E	p.V302E			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	10	1078	-			302			VWFA.		A7MD15|Q9NY48|Q9UEW0|Q9Y268	Missense_Mutation	SNP	ENST00000479441.1	37	c.905T>A	CCDS54588.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.237025	0.79800	.	.	ENSG00000007402	ENST00000423994;ENST00000429770;ENST00000266039;ENST00000360963;ENST00000435965;ENST00000395083;ENST00000424201;ENST00000479441	T;T;T;T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46;2.46;2.46;2.46	5.0	5.0	0.66597	von Willebrand factor, type A (3);	0.128893	0.51477	D	0.000093	T	0.42720	0.1215	M	0.74258	2.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.42982	-0.9419	10	0.87932	D	0	-14.677	14.7124	0.69244	1.0:0.0:0.0:0.0	.	302;302	Q9NY47;Q9NY47-2	CA2D2_HUMAN;.	E	302;302;302;233;302;302;302;302	ENSP00000407393:V302E;ENSP00000404631:V302E;ENSP00000266039:V302E;ENSP00000354228:V233E;ENSP00000390526:V302E;ENSP00000378519:V302E;ENSP00000390329:V302E;ENSP00000418081:V302E	ENSP00000266039:V302E	V	-	2	0	CACNA2D2	50392248	1.000000	0.71417	0.819000	0.32651	0.908000	0.53690	9.254000	0.95512	1.878000	0.54408	0.459000	0.35465	GTG		0.587	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		8	218	0	0	0	1	0	8	218				
HIST1H3C	8352	broad.mit.edu	37	6	26045691	26045691	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26045691G>A	ENST00000540144.1	+	1	53	c.53G>A	c.(52-54)cGc>cAc	p.R18H	HIST1H2BB_ENST00000357905.2_5'Flank	NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	18					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						AAAGCTCCGCGCAAGCAGCTT	0.587																																						ENST00000540144.1																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						c.(52-54)cGc>cAc		histone cluster 1, H3c							39.0	43.0	42.0					6																	26045691		2202	4300	6502	SO:0001583	missense	8352				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26045691G>A	X57128	CCDS4576.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000196532	ENSG00000278272		"""Histones / Replication-dependent"""	4768	protein-coding gene	gene with protein product		602812	"""H3 histone family, member C"", ""histone 1, H3c"""	H3FC		8227173, 9119399, 12408966	Standard	NM_003531		Approved	H3/c, H3.1	uc003nfv.3	P68431	OTTHUMG00000014416	ENST00000540144.1:c.53G>A	6.37:g.26045691G>A	ENSP00000439493:p.Arg18His						p.R18H	NM_003531.2	NP_003522.1	P68431	H31_HUMAN			1	53	+			18					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000540144.1	37	c.53G>A	CCDS4576.1	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709363	0.30322	.	.	ENSG00000196532	ENST00000540144	T	0.49720	0.77	4.67	4.67	0.58626	.	.	.	.	.	T	0.59742	0.2216	.	.	.	0.41794	D	0.989887	.	.	.	.	.	.	T	0.65372	-0.6184	6	0.87932	D	0	.	17.4292	0.87534	0.0:0.0:1.0:0.0	.	.	.	.	H	18	ENSP00000439493:R18H	ENSP00000439493:R18H	R	+	2	0	HIST1H3C	26153670	1.000000	0.71417	0.999000	0.59377	0.040000	0.13550	9.429000	0.97481	2.529000	0.85273	0.591000	0.81541	CGC		0.587	HIST1H3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040078.1	NM_003531		5	366	0	0	0	1	0	5	366				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		4	177	0	0	0	1	0	4	177				
ARHGEF12	23365	broad.mit.edu	37	11	120312438	120312438	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:120312438T>A	ENST00000397843.2	+	14	1281	c.1115T>A	c.(1114-1116)tTc>tAc	p.F372Y	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F269Y|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F353Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	372	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|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)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TGCAGCTGTTTCCAGAGCATT	0.378			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(1114-1116)tTc>tAc		Rho guanine nucleotide exchange factor (GEF) 12							149.0	137.0	141.0					11																	120312438		1865	4091	5956	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120312438T>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1115T>A	11.37:g.120312438T>A	ENSP00000380942:p.Phe372Tyr					ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F353Y|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F269Y	p.F372Y	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	14	1281	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	372			RGSL.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.1115T>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	T	34	5.309469	0.95629	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.84873	-1.91;-1.91;-1.91	5.85	5.85	0.93711	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.47852	D	0.000210	D	0.93080	0.7797	M	0.85041	2.73	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.983;0.986	D;D;D	0.97110	1.0;0.966;0.98	D	0.94032	0.7302	10	0.87932	D	0	-11.142	16.2393	0.82399	0.0:0.0:0.0:1.0	.	269;353;372	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Y	372;353;269	ENSP00000380942:F372Y;ENSP00000349056:F353Y;ENSP00000432984:F269Y	ENSP00000349056:F353Y	F	+	2	0	ARHGEF12	119817648	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.615000	0.83006	2.239000	0.73571	0.455000	0.32223	TTC		0.378	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		9	432	0	0	0	1	0	9	432				
VPS13B	157680	broad.mit.edu	37	8	100654450	100654450	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:100654450A>G	ENST00000358544.2	+	34	5818	c.5707A>G	c.(5707-5709)Agc>Ggc	p.S1903G	VPS13B_ENST00000357162.2_Missense_Mutation_p.S1878G|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1903					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTCTTAAGGAGCAGCATTTC	0.428																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(5707-5709)Agc>Ggc		vacuolar protein sorting 13 homolog B (yeast)							118.0	125.0	122.0					8																	100654450		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100654450A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5707A>G	8.37:g.100654450A>G	ENSP00000351346:p.Ser1903Gly					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.S1878G	p.S1903G	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		34	5818	+	Breast(36;3.73e-07)		1903					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.5707A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	14.10	2.433667	0.43224	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70869	-0.52;-0.51	5.8	4.64	0.57946	.	0.205149	0.47852	D	0.000220	T	0.54111	0.1838	N	0.19112	0.55	0.80722	D	1	B;B	0.30914	0.3;0.199	B;B	0.29785	0.107;0.079	T	0.51601	-0.8685	10	0.39692	T	0.17	.	10.4424	0.44472	0.9266:0.0:0.0734:0.0	.	1878;1903	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	G	1878;1903	ENSP00000349685:S1878G;ENSP00000351346:S1903G	ENSP00000349685:S1878G	S	+	1	0	VPS13B	100723626	1.000000	0.71417	0.330000	0.25442	0.992000	0.81027	3.460000	0.53028	1.034000	0.39945	0.459000	0.35465	AGC		0.428	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	592	0	0	0	1	0	8	592				
AGXT2	64902	broad.mit.edu	37	5	35047946	35047946	+	Missense_Mutation	SNP	C	C	T	rs548090207		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:35047946C>T	ENST00000231420.6	-	1	252	c.52G>A	c.(52-54)Gct>Act	p.A18T		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	18					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ATCCTGGGAGCGGAAGTGACC	0.552													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18200	0.0		0.0	False		,,,				2504	0.0					ENST00000231420.6																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41						c.(52-54)Gct>Act		alanine--glyoxylate aminotransferase 2	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						70.0	61.0	64.0					5																	35047946		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35047946C>T	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.52G>A	5.37:g.35047946C>T	ENSP00000231420:p.Ala18Thr						p.A18T	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	1	252	-	all_lung(31;4.52e-05)		18					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.52G>A	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	C	3.132	-0.178126	0.06380	.	.	ENSG00000113492	ENST00000231420	D	0.81579	-1.51	2.93	-4.62	0.03370	.	444.195000	0.00166	N	0.000000	T	0.54935	0.1889	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48536	-0.9027	10	0.13470	T	0.59	.	0.069	0.00020	0.2832:0.1706:0.2251:0.3212	.	18;18	E9PDL7;Q9BYV1	.;AGT2_HUMAN	T	18	ENSP00000231420:A18T	ENSP00000231420:A18T	A	-	1	0	AGXT2	35083703	0.000000	0.05858	0.000000	0.03702	0.339000	0.28857	-1.066000	0.03454	-1.013000	0.03383	-0.680000	0.03767	GCT		0.552	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		5	322	0	0	0	1	0	5	322				
STXBP6	29091	broad.mit.edu	37	14	25325188	25325188	+	Silent	SNP	C	C	T	rs373624807		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:25325188C>T	ENST00000323944.5	-	4	856	c.405G>A	c.(403-405)acG>acA	p.T135T	STXBP6_ENST00000419632.2_Silent_p.T135T|STXBP6_ENST00000358326.2_Silent_p.T135T|STXBP6_ENST00000396700.1_Silent_p.T135T|STXBP6_ENST00000546511.1_Silent_p.T135T|STXBP6_ENST00000550887.1_Silent_p.T135T|STXBP6_ENST00000548724.1_Silent_p.T135T			Q8NFX7	STXB6_HUMAN	syntaxin binding protein 6 (amisyn)	135					negative regulation of exocytosis (GO:0045920)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7				GBM - Glioblastoma multiforme(265;0.0296)		GCTTCCTGTCCGTGAGGTACC	0.443																																						ENST00000323944.5																			0				central_nervous_system(2)|endometrium(2)|large_intestine(3)	7						c.(403-405)acG>acA		syntaxin binding protein 6 (amisyn)		T		1,4405	826.1+/-416.6	0,1,2202	132.0	117.0	122.0		405	-10.4	0.4	14		122	1,8599	819.0+/-406.8	0,1,4299	no	coding-synonymous	STXBP6	NM_014178.6		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		135/211	25325188	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0				vesicle-mediated transport	cytoplasm|integral to membrane		g.chr14:25325188C>T	AF161505	CCDS9634.1	14q11.2	2002-12-18			ENSG00000168952	ENSG00000168952			19666	protein-coding gene	gene with protein product		607958				12145319	Standard	NM_014178		Approved	amisyn, HSPC156	uc001wpu.3	Q8NFX7	OTTHUMG00000140186	ENST00000323944.5:c.405G>A	14.37:g.25325188C>T						STXBP6_ENST00000550887.1_Silent_p.T135T|STXBP6_ENST00000396700.1_Silent_p.T135T|STXBP6_ENST00000548724.1_Silent_p.T135T|STXBP6_ENST00000419632.2_Silent_p.T135T|STXBP6_ENST00000546511.1_Silent_p.T135T|STXBP6_ENST00000358326.2_Silent_p.T135T	p.T135T			Q8NFX7	STXB6_HUMAN		GBM - Glioblastoma multiforme(265;0.0296)	4	856	-			135					D3DS78|Q8N3H1|Q8N8D5|Q96GF3|Q9P008	Silent	SNP	ENST00000323944.5	37	c.405G>A	CCDS9634.1																																																																																				0.443	STXBP6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409166.1			24	282	0	0	0	1	0	24	282				
CFAP61	26074	broad.mit.edu	37	20	20243648	20243648	+	Missense_Mutation	SNP	G	G	C	rs149798734		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20243648G>C	ENST00000245957.5	+	21	2453	c.2377G>C	c.(2377-2379)Gag>Cag	p.E793Q	C20orf26_ENST00000389656.3_Missense_Mutation_p.E149Q|C20orf26_ENST00000377309.2_Missense_Mutation_p.E149Q|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E149Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		793										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GACAAACAGGGAGGTTCCCAA	0.458																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2377-2379)Gag>Cag		chromosome 20 open reading frame 26							106.0	105.0	106.0					20																	20243648		2203	4300	6503	SO:0001583	missense	26074							g.chr20:20243648G>C																												ENST00000245957.5:c.2377G>C	20.37:g.20243648G>C	ENSP00000245957:p.Glu793Gln					RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Missense_Mutation_p.E149Q|C20orf26_ENST00000377309.2_Missense_Mutation_p.E149Q|C20orf26_ENST00000389656.3_Missense_Mutation_p.E149Q	p.E793Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2453	+			793					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	37	c.2377G>C	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	14.24	2.476947	0.44044	.	.	ENSG00000089101	ENST00000343997;ENST00000377309;ENST00000389656;ENST00000389655;ENST00000245957;ENST00000377293	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.22	5.22	0.72569	.	0.468411	0.24669	N	0.036568	T	0.57519	0.2059	L	0.48986	1.54	0.40163	D	0.97708	B;P;D	0.76494	0.197;0.633;0.999	B;B;P	0.61658	0.206;0.133;0.892	T	0.57335	-0.7829	10	0.51188	T	0.08	.	18.5632	0.91108	0.0:0.0:1.0:0.0	.	773;149;793	F8W6K4;Q8NHU2-5;Q8NHU2	.;.;CT026_HUMAN	Q	733;149;149;773;793;149	ENSP00000366524:E149Q;ENSP00000374307:E149Q;ENSP00000245957:E793Q;ENSP00000366508:E149Q	ENSP00000245957:E793Q	E	+	1	0	C20orf26	20191648	1.000000	0.71417	0.931000	0.37212	0.220000	0.24768	5.616000	0.67709	2.715000	0.92844	0.655000	0.94253	GAG		0.458	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			10	542	0	0	0	1	0	10	542				
ZHX2	22882	broad.mit.edu	37	8	123965518	123965518	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:123965518G>T	ENST00000314393.4	+	3	2603	c.1768G>T	c.(1768-1770)Gct>Tct	p.A590S		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	590					mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CATGGAACAAGCTGTCTTGGA	0.567																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	ENST00000314393.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45						c.(1768-1770)Gct>Tct		zinc fingers and homeoboxes 2							65.0	65.0	65.0					8																	123965518		2203	4300	6503	SO:0001583	missense	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123965518G>T	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.1768G>T	8.37:g.123965518G>T	ENSP00000314709:p.Ala590Ser						p.A590S	NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	2603	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		590						Missense_Mutation	SNP	ENST00000314393.4	37	c.1768G>T	CCDS6336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175493	0.38413	.	.	ENSG00000178764	ENST00000314393	T	0.18810	2.19	5.41	4.54	0.55810	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.162999	0.53938	N	0.000054	T	0.16085	0.0387	N	0.24115	0.695	0.58432	D	0.999999	B	0.16396	0.017	B	0.14023	0.01	T	0.03249	-1.1056	10	0.33141	T	0.24	-10.3415	15.7423	0.77910	0.0:0.0:0.8626:0.1374	.	590	Q9Y6X8	ZHX2_HUMAN	S	590	ENSP00000314709:A590S	ENSP00000314709:A590S	A	+	1	0	ZHX2	124034699	1.000000	0.71417	0.913000	0.36048	0.952000	0.60782	4.975000	0.63777	1.509000	0.48786	0.561000	0.74099	GCT		0.567	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		5	366	1	0	0.000602214	1	0.000619698	5	366				
SLC17A7	57030	broad.mit.edu	37	19	49937267	49937267	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:49937267G>C	ENST00000221485.3	-	6	845	c.674C>G	c.(673-675)gCc>gGc	p.A225G	SLC17A7_ENST00000543531.1_Missense_Mutation_p.A213G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A158G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	225					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		AAGGACCCCGGCGAGGGGCAT	0.657																																						ENST00000221485.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26						c.(673-675)gCc>gGc		solute carrier family 17 (vesicular glutamate transporter), member 7							39.0	38.0	38.0					19																	49937267		2203	4300	6503	SO:0001583	missense	57030				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	g.chr19:49937267G>C	AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.674C>G	19.37:g.49937267G>C	ENSP00000221485:p.Ala225Gly					SLC17A7_ENST00000543531.1_Missense_Mutation_p.A213G|SLC17A7_ENST00000600601.1_Missense_Mutation_p.A158G	p.A225G	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)	6	845	-		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	225					B4DFR9|B4DG46|Q6PCD0	Missense_Mutation	SNP	ENST00000221485.3	37	c.674C>G	CCDS12764.1	.	.	.	.	.	.	.	.	.	.	g	17.04	3.288374	0.59976	.	.	ENSG00000104888	ENST00000221485;ENST00000543531	T;T	0.55413	0.52;0.52	4.23	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.51477	D	0.000081	T	0.46171	0.1379	L	0.39085	1.19	0.80722	D	1	B;B	0.21225	0.005;0.053	B;B	0.28465	0.05;0.09	T	0.49143	-0.8970	10	0.59425	D	0.04	.	14.5062	0.67755	0.0:0.0:1.0:0.0	.	158;225	B4DFR9;Q9P2U7	.;VGLU1_HUMAN	G	225;213	ENSP00000221485:A225G;ENSP00000441767:A213G	ENSP00000221485:A225G	A	-	2	0	SLC17A7	54629079	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.481000	0.97933	2.372000	0.80975	0.556000	0.70494	GCC		0.657	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465367.2			76	86	0	0	0	1	0	76	86				
PEG3	5178	broad.mit.edu	37	19	57328548	57328548	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:57328548T>C	ENST00000326441.9	-	10	1625	c.1262A>G	c.(1261-1263)gAg>gGg	p.E421G	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E297G|PEG3_ENST00000593695.1_Missense_Mutation_p.E295G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E421G|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	421					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTTCTCATCTCACTACCACA	0.493																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(1261-1263)gAg>gGg		paternally expressed 3							148.0	147.0	147.0					19																	57328548		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328548T>C	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.1262A>G	19.37:g.57328548T>C	ENSP00000326581:p.Glu421Gly					ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E295G|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E421G|PEG3_ENST00000598410.1_Missense_Mutation_p.E297G|ZIM2_ENST00000391708.3_Intron	p.E421G	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	1625	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	421					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.1262A>G	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.448694	0.43531	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.03212	4.01;4.01	4.14	4.14	0.48551	.	0.298622	0.24165	N	0.040941	T	0.03827	0.0108	L	0.32530	0.975	.	.	.	P;P;P	0.48162	0.906;0.596;0.791	B;B;B	0.41036	0.346;0.201;0.272	T	0.19647	-1.0299	9	0.87932	D	0	-17.7198	9.8414	0.41002	0.0:0.0:0.0:1.0	.	297;421;356	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	G	421;421;391	ENSP00000326581:E421G;ENSP00000403051:E421G	ENSP00000292074:E391G	E	-	2	0	ZIM2	62020360	0.002000	0.14202	0.061000	0.19648	0.969000	0.65631	1.406000	0.34646	2.098000	0.63641	0.528000	0.53228	GAG		0.493	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			69	592	0	0	0	1	0	69	592				
TIGD6	81789	broad.mit.edu	37	5	149375208	149375208	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:149375208G>C	ENST00000296736.3	-	2	1478	c.704C>G	c.(703-705)cCa>cGa	p.P235R	TIGD6_ENST00000515406.2_Missense_Mutation_p.P235R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	235	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GAGGCAGTGTGGGCTGGCTGA	0.502																																						ENST00000296736.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(703-705)cCa>cGa		tigger transposable element derived 6							88.0	78.0	81.0					5																	149375208		2203	4300	6503	SO:0001583	missense	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375208G>C	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.704C>G	5.37:g.149375208G>C	ENSP00000296736:p.Pro235Arg					TIGD6_ENST00000515406.2_Missense_Mutation_p.P235R	p.P235R	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1478	-			235			DDE.		B3KTZ8|Q96MQ4|Q9H0X7	Missense_Mutation	SNP	ENST00000296736.3	37	c.704C>G	CCDS4301.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.794523	0.31777	.	.	ENSG00000164296	ENST00000296736;ENST00000515406	T;T	0.51325	0.71;0.71	4.62	2.77	0.32553	.	0.000000	0.33591	U	0.004750	T	0.64450	0.2599	M	0.79614	2.46	0.27853	N	0.940684	D	0.89917	1.0	D	0.97110	1.0	T	0.57376	-0.7822	10	0.87932	D	0	.	7.6938	0.28583	0.0935:0.1671:0.7394:0.0	.	235	Q17RP2	TIGD6_HUMAN	R	235	ENSP00000296736:P235R;ENSP00000425318:P235R	ENSP00000296736:P235R	P	-	2	0	TIGD6	149355401	0.998000	0.40836	0.648000	0.29521	0.286000	0.27126	3.658000	0.54482	0.631000	0.30412	0.563000	0.77884	CCA		0.502	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	NM_030953		46	212	0	0	0	1	0	46	212				
ECSIT	51295	broad.mit.edu	37	19	11618812	11618812	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:11618812T>C	ENST00000270517.7	-	5	925	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	CTC-398G3.6_ENST00000585656.1_5'Flank|ECSIT_ENST00000592312.1_Missense_Mutation_p.I148V|ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000588998.1_Missense_Mutation_p.I50V|ECSIT_ENST00000252440.7_Missense_Mutation_p.I264V|ZNF653_ENST00000593191.1_5'Flank|ECSIT_ENST00000591104.1_Missense_Mutation_p.I264V|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.I50V	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	264					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TTACCTACGATGTGGGGCTGG	0.592																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(790-792)Atc>Gtc		ECSIT signalling integrator							88.0	97.0	94.0					19																	11618812		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11618812T>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.790A>G	19.37:g.11618812T>C	ENSP00000270517:p.Ile264Val					ECSIT_ENST00000591352.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.I264V|ECSIT_ENST00000592312.1_Missense_Mutation_p.I148V|ECSIT_ENST00000417981.2_Missense_Mutation_p.I50V|ECSIT_ENST00000252440.7_Missense_Mutation_p.I264V|ECSIT_ENST00000588998.1_Missense_Mutation_p.I50V	p.I264V	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			5	925	-			264					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.790A>G	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.632961	0.47049	.	.	ENSG00000130159	ENST00000270517;ENST00000417981;ENST00000252440	T;T;T	0.79749	-1.3;1.04;-1.3	3.81	3.81	0.43845	.	0.057445	0.64402	D	0.000002	D	0.85605	0.5735	M	0.63428	1.95	0.37977	D	0.933462	P;D;P	0.61697	0.884;0.99;0.924	P;D;P	0.75484	0.509;0.986;0.497	D	0.85340	0.1095	10	0.34782	T	0.22	-15.1137	9.5611	0.39369	0.0:0.0:0.0:1.0	.	50;264;264	E9PAN9;Q9BQ95-2;Q9BQ95	.;.;ECSIT_HUMAN	V	264;50;264	ENSP00000270517:I264V;ENSP00000412712:I50V;ENSP00000252440:I264V	ENSP00000252440:I264V	I	-	1	0	ECSIT	11479812	1.000000	0.71417	0.995000	0.50966	0.406000	0.30931	4.365000	0.59486	1.671000	0.50874	0.459000	0.35465	ATC		0.592	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		42	295	0	0	0	1	0	42	295				
CDH18	1016	broad.mit.edu	37	5	19747253	19747253	+	Silent	SNP	C	C	T	rs370029789		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:19747253C>T	ENST00000507958.1	-	6	1311	c.321G>A	c.(319-321)acG>acA	p.T107T	CDH18_ENST00000502796.1_Silent_p.T107T|CDH18_ENST00000511273.1_Silent_p.T107T|CDH18_ENST00000274170.4_Silent_p.T107T|CDH18_ENST00000382275.1_Silent_p.T107T|CDH18_ENST00000506372.1_Silent_p.T107T			Q13634	CAD18_HUMAN	cadherin 18, type 2	107	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T107T(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GGATATCACCCGTGGTATCGT	0.443																																						ENST00000507958.1																			2	Substitution - coding silent(2)	p.T107T(2)	lung(2)	breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(319-321)acG>acA		cadherin 18, type 2		C	,	0,4406		0,0,2203	212.0	189.0	197.0		321,321	-10.5	0.1	5		197	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CDH18	NM_001167667.1,NM_004934.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	107/575,107/791	19747253	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19747253C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.321G>A	5.37:g.19747253C>T						CDH18_ENST00000506372.1_Silent_p.T107T|CDH18_ENST00000382275.1_Silent_p.T107T|CDH18_ENST00000274170.4_Silent_p.T107T|CDH18_ENST00000502796.1_Silent_p.T107T|CDH18_ENST00000511273.1_Silent_p.T107T	p.T107T			Q13634	CAD18_HUMAN			6	1311	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		107			Cadherin 1.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.321G>A	CCDS3889.1																																																																																				0.443	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		36	496	0	0	0	1	0	36	496				
ADAR	103	broad.mit.edu	37	1	154570940	154570940	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:154570940C>A	ENST00000368474.4	-	3	1922	c.1723G>T	c.(1723-1725)Gcc>Tcc	p.A575S	ADAR_ENST00000368471.3_Missense_Mutation_p.A280S|ADAR_ENST00000292205.5_Missense_Mutation_p.A618S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	575					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTGTCCTTGGCTTTGGCTTCC	0.498																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(1723-1725)Gcc>Tcc		adenosine deaminase, RNA-specific							262.0	208.0	226.0					1																	154570940		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154570940C>A	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.1723G>T	1.37:g.154570940C>A	ENSP00000357459:p.Ala575Ser					ADAR_ENST00000292205.5_Missense_Mutation_p.A618S|ADAR_ENST00000368471.3_Missense_Mutation_p.A280S	p.A575S	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	3	1922	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		575					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.1723G>T	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740553	0.69304	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.13538	2.77;2.79;2.58;2.77	4.97	4.97	0.65823	.	0.224215	0.44483	D	0.000453	T	0.12390	0.0301	L	0.32530	0.975	0.24690	N	0.993314	P;P;D	0.69078	0.532;0.532;0.997	B;B;D	0.75020	0.284;0.284;0.985	T	0.07366	-1.0776	10	0.41790	T	0.15	-13.9444	8.6255	0.33886	0.0:0.7629:0.1542:0.0829	.	575;575;575	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	S	618;575;280;570	ENSP00000292205:A618S;ENSP00000357459:A575S;ENSP00000357456:A280S;ENSP00000431794:A570S	ENSP00000292205:A618S	A	-	1	0	ADAR	152837564	0.992000	0.36948	0.996000	0.52242	0.972000	0.66771	1.761000	0.38440	2.578000	0.87016	0.655000	0.94253	GCC		0.498	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		57	381	1	0	2.18419e-29	1	2.49734e-29	57	381				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	405	0	0	0	1	0	8	405				
OR10H2	26538	broad.mit.edu	37	19	15839203	15839203	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:15839203T>C	ENST00000305899.3	+	1	370	c.350T>C	c.(349-351)gTc>gCc	p.V117A		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	117						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGCTCACCGTCATGGGCTAC	0.647																																						ENST00000305899.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27						c.(349-351)gTc>gCc		olfactory receptor, family 10, subfamily H, member 2							55.0	50.0	52.0					19																	15839203		2203	4296	6499	SO:0001583	missense	26538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15839203T>C	AC004597	CCDS12333.1	19p13.1	2012-08-09				ENSG00000171942		"""GPCR / Class A : Olfactory receptors"""	8173	protein-coding gene	gene with protein product							Standard	NM_013939		Approved		uc002nbm.2	O60403		ENST00000305899.3:c.350T>C	19.37:g.15839203T>C	ENSP00000306095:p.Val117Ala						p.V117A	NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN			1	370	+	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)		117					Q6IFQ1|Q96R58	Missense_Mutation	SNP	ENST00000305899.3	37	c.350T>C	CCDS12333.1	.	.	.	.	.	.	.	.	.	.	.	7.779	0.709155	0.15239	.	.	ENSG00000171942	ENST00000305899	T	0.01304	5.03	3.27	2.23	0.28157	GPCR, rhodopsin-like superfamily (1);	0.486781	0.17282	N	0.179958	T	0.01029	0.0034	N	0.21097	0.63	0.29968	N	0.818798	B	0.14805	0.011	B	0.18871	0.023	T	0.38672	-0.9650	10	0.09843	T	0.71	.	5.8893	0.18899	0.0:0.1378:0.0:0.8622	.	117	O60403	O10H2_HUMAN	A	117	ENSP00000306095:V117A	ENSP00000306095:V117A	V	+	2	0	OR10H2	15700203	0.005000	0.15991	0.957000	0.39632	0.921000	0.55340	0.701000	0.25616	1.127000	0.42034	0.352000	0.21897	GTC		0.647	OR10H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460917.1			12	147	0	0	0	1	0	12	147				
CDC23	8697	broad.mit.edu	37	5	137524808	137524808	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:137524808C>T	ENST00000394886.2	-	16	1683	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	551					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTAGGATTTGCCGGAGTAAGG	0.488																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1651-1653)cgG>cgA		cell division cycle 23							193.0	174.0	181.0					5																	137524808		2203	4300	6503	SO:0001819	synonymous_variant	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524808C>T	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1653G>A	5.37:g.137524808C>T							p.R551R	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1683	-			551					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Silent	SNP	ENST00000394886.2	37	c.1653G>A	CCDS4200.2																																																																																				0.488	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			5	333	0	0	0	1	0	5	333				
CD93	22918	broad.mit.edu	37	20	23066355	23066355	+	Nonsense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:23066355T>A	ENST00000246006.4	-	1	622	c.475A>T	c.(475-477)Aag>Tag	p.K159*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	159	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAGACCACTTGGGGAGGCGG	0.627																																						ENST00000246006.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(475-477)Aag>Tag		CD93 molecule							26.0	32.0	30.0					20																	23066355		2203	4300	6503	SO:0001587	stop_gained	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23066355T>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.475A>T	20.37:g.23066355T>A	ENSP00000246006:p.Lys159*						p.K159*	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	622	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		159			C-type lectin.		O00274	Nonsense_Mutation	SNP	ENST00000246006.4	37	c.475A>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552642	0.86127	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	.	.	.	5.52	5.52	0.82312	.	0.311666	0.27673	N	0.018340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.5799	9.5152	0.39102	0.0:0.0873:0.0:0.9127	.	.	.	.	X	159	.	ENSP00000246006:K159X	K	-	1	0	CD93	23014355	.	.	0.905000	0.35620	0.029000	0.11900	.	.	2.218000	0.71995	0.533000	0.62120	AAG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		23	247	0	0	0	1	0	23	247				
LPL	4023	broad.mit.edu	37	8	19805853	19805853	+	Splice_Site	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:19805853T>C	ENST00000311322.8	+	2	719		c.e2+2		LPL_ENST00000521994.1_Splice_Site	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GGCTGGACGGTAAGGGAGGCT	0.562																																						ENST00000311322.8																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.e2+2		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)						87.0	72.0	77.0					8																	19805853		2203	4300	6503	SO:0001630	splice_region_variant	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19805853T>C		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.249+2T>C	8.37:g.19805853T>C						LPL_ENST00000521994.1_Splice_Site		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	2	719	+								B2R5T9|Q16282|Q16283|Q96FC4	Splice_Site	SNP	ENST00000311322.8	37		CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757153	0.69648	.	.	ENSG00000175445	ENST00000520959;ENST00000524029;ENST00000522701;ENST00000311322;ENST00000538071;ENST00000535763	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2795	0.60207	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LPL	19850133	1.000000	0.71417	0.993000	0.49108	0.777000	0.43975	7.991000	0.88244	2.020000	0.59435	0.533000	0.62120	.		0.562	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		Intron	12	194	0	0	0	1	0	12	194				
ARSA	410	broad.mit.edu	37	22	51063767	51063767	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:51063767C>T	ENST00000547307.1	-	8	1735	c.1330G>A	c.(1330-1332)Ggt>Agt	p.G444S	ARSA_ENST00000356098.5_Missense_Mutation_p.G446S|ARSA_ENST00000610191.1_5'Flank|ARSA_ENST00000216124.5_Missense_Mutation_p.G446S|ARSA_ENST00000453344.2_Missense_Mutation_p.G360S|ARSA_ENST00000547805.1_Missense_Mutation_p.G444S|ARSA_ENST00000395621.3_Missense_Mutation_p.G446S|ARSA_ENST00000395619.3_Missense_Mutation_p.G446S			P15289	ARSA_HUMAN	arylsulfatase A	444					autophagy (GO:0006914)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum lumen (GO:0005788)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|cerebroside-sulfatase activity (GO:0004098)|sulfuric ester hydrolase activity (GO:0008484)			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)|Suramin(DB04786)	CCGGCCACACCCCCCAGCAGG	0.637																																						ENST00000547307.1																			0				endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9						c.(1330-1332)Ggt>Agt		arylsulfatase A	Micafungin(DB01141)						47.0	54.0	52.0					22																	51063767		2203	4297	6500	SO:0001583	missense	410					lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity	g.chr22:51063767C>T	X52150	CCDS14100.1, CCDS46736.1, CCDS14100.2	22q13.33	2013-09-19			ENSG00000100299	ENSG00000100299	3.1.6.8	"""Arylsulfatase family"""	713	protein-coding gene	gene with protein product	"""metachromatic leucodystrophy"""	607574				15772092	Standard	NM_000487		Approved		uc003bmz.5	P15289	OTTHUMG00000150180	ENST00000547307.1:c.1330G>A	22.37:g.51063767C>T	ENSP00000448440:p.Gly444Ser					ARSA_ENST00000216124.5_Missense_Mutation_p.G446S|ARSA_ENST00000356098.5_Missense_Mutation_p.G446S|ARSA_ENST00000453344.2_Missense_Mutation_p.G360S|ARSA_ENST00000547805.1_Missense_Mutation_p.G444S|ARSA_ENST00000395619.3_Missense_Mutation_p.G446S|ARSA_ENST00000395621.3_Missense_Mutation_p.G446S	p.G444S			P15289	ARSA_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1735	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	444					B2RCA6|B7XD04|F8WCC8|Q6ICI5|Q96CJ0	Missense_Mutation	SNP	ENST00000547307.1	37	c.1330G>A		.	.	.	.	.	.	.	.	.	.	C	2.961	-0.214658	0.06101	.	.	ENSG00000100299	ENST00000356098;ENST00000216124;ENST00000547307;ENST00000547805;ENST00000395621;ENST00000453344;ENST00000395619	D;D;D;D;D;D;D	0.94931	-3.56;-3.56;-3.56;-3.56;-3.56;-3.56;-3.56	5.27	-3.97	0.04094	Alkaline-phosphatase-like, core domain (1);	1.330700	0.04749	N	0.424127	D	0.86096	0.5851	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.77101	-0.2712	10	0.07482	T	0.82	.	7.418	0.27055	0.0:0.2827:0.1285:0.5888	.	444	P15289	ARSA_HUMAN	S	446;446;444;444;446;360;446	ENSP00000348406:G446S;ENSP00000216124:G446S;ENSP00000448440:G444S;ENSP00000448932:G444S;ENSP00000378983:G446S;ENSP00000412542:G360S;ENSP00000378981:G446S	ENSP00000216124:G446S	G	-	1	0	ARSA	49410633	0.000000	0.05858	0.000000	0.03702	0.688000	0.40055	-0.602000	0.05680	-0.852000	0.04141	0.467000	0.42956	GGT		0.637	ARSA-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_000487		50	504	0	0	0	1	0	50	504				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			16	182	0	0	0	1	0	16	182				
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			5	24	0	0	0	1	0	5	24				
CSMD2	114784	broad.mit.edu	37	1	34052182	34052182	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:34052182T>G	ENST00000373381.4	-	46	7149	c.6973A>C	c.(6973-6975)Acc>Ccc	p.T2325P		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2327	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCACTAAGGTAAAGCCAGGG	0.478																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(6973-6975)Acc>Ccc		CUB and Sushi multiple domains 2							105.0	96.0	99.0					1																	34052182		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34052182T>G	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.6973A>C	1.37:g.34052182T>G	ENSP00000362479:p.Thr2325Pro						p.T2325P	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			46	7149	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2327			Sushi 13.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.6973A>C		.	.	.	.	.	.	.	.	.	.	T	22.8	4.336917	0.81801	.	.	ENSG00000121904	ENST00000373381	T	0.65549	-0.16	5.84	4.67	0.58626	Complement control module (2);Sushi/SCR/CCP (3);	0.369443	0.29501	N	0.011968	T	0.79667	0.4485	M	0.92169	3.28	0.80722	D	1	D;P	0.53745	0.962;0.934	P;P	0.60068	0.868;0.868	T	0.80897	-0.1177	10	0.30854	T	0.27	.	11.9031	0.52694	0.1568:0.0:0.0:0.8432	.	2327;2325	Q7Z408;E7EUA6	CSMD2_HUMAN;.	P	2325	ENSP00000362479:T2325P	ENSP00000241312:T2327P	T	-	1	0	CSMD2	33824769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.554000	0.36266	2.231000	0.72958	0.533000	0.62120	ACC		0.478	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		5	378	0	0	0	1	0	5	378				
TINAG	27283	broad.mit.edu	37	6	54254644	54254644	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:54254644T>G	ENST00000259782.4	+	11	1448	c.1352T>G	c.(1351-1353)cTt>cGt	p.L451R		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	451					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTCAGGATTCTTCGAGGAGTA	0.393																																						ENST00000259782.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34						c.(1351-1353)cTt>cGt		tubulointerstitial nephritis antigen							135.0	133.0	134.0					6																	54254644		2203	4300	6503	SO:0001583	missense	27283				cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	g.chr6:54254644T>G	AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.1352T>G	6.37:g.54254644T>G	ENSP00000259782:p.Leu451Arg						p.L451R	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.246)		11	1448	+	Lung NSC(77;0.0518)		451					Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	c.1352T>G	CCDS4955.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.710540	0.68730	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84370	-1.84	5.89	5.89	0.94794	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000019	D	0.84826	0.5558	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86553	0.1836	10	0.49607	T	0.09	.	12.683	0.56932	0.0:0.0:0.0:1.0	.	451	Q9UJW2	TINAG_HUMAN	R	310;451;130	ENSP00000259782:L451R	ENSP00000259782:L451R	L	+	2	0	TINAG	54362603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.851000	0.39338	2.251000	0.74343	0.482000	0.46254	CTT		0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		50	506	0	0	0	1	0	50	506				
ADCY10	55811	broad.mit.edu	37	1	167874317	167874317	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:167874317G>T	ENST00000367851.4	-	2	246	c.62C>A	c.(61-63)cCa>cAa	p.P21Q	ADCY10_ENST00000545172.1_Intron|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000476818.2_Missense_Mutation_p.P21Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	21					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AATGAGGTCTGGTAAATGAGC	0.423																																						ENST00000367851.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						c.(61-63)cCa>cAa		adenylate cyclase 10 (soluble)							182.0	173.0	176.0					1																	167874317		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167874317G>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.62C>A	1.37:g.167874317G>T	ENSP00000356825:p.Pro21Gln					ADCY10_ENST00000476818.2_Missense_Mutation_p.P21Q|ADCY10_ENST00000367848.1_5'UTR|ADCY10_ENST00000545172.1_Intron	p.P21Q	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN			2	246	-			21					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.62C>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329244	0.60743	.	.	ENSG00000143199	ENST00000367851	T	0.60424	0.19	5.58	5.58	0.84498	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.56097	D	0.000029	T	0.69024	0.3065	M	0.66939	2.045	0.31767	N	0.6326149999999999	D	0.89917	1.0	D	0.87578	0.998	T	0.73180	-0.4064	9	0.87932	D	0	-15.5147	15.0744	0.72066	0.0:0.0:1.0:0.0	.	21	Q96PN6	ADCYA_HUMAN	Q	21	ENSP00000356825:P21Q	ENSP00000356825:P21Q	P	-	2	0	ADCY10	166140941	1.000000	0.71417	0.945000	0.38365	0.317000	0.28152	5.244000	0.65400	2.611000	0.88343	0.655000	0.94253	CCA		0.423	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		5	372	1	0	0.0293803	1	0.0299435	5	372				
TENM1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:123514403C>T	ENST00000371130.3	-	31	8224	c.8161G>A	c.(8161-8163)Gaa>Aaa	p.E2721K	TENM1_ENST00000422452.2_Missense_Mutation_p.E2728K|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2721					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTGCCTATTTCGCTCTGTCTC	0.373													C|||	1	0.000264901	0.0	0.0	3775	,	,		14561	0.0		0.0	False		,,,				2504	0.001					ENST00000422452.2																			0											c.(8182-8184)Gaa>Aaa		teneurin transmembrane protein 1							88.0	83.0	85.0					X																	123514403		2203	4300	6503	SO:0001583	missense	10178							g.chrX:123514403C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.8161G>A	X.37:g.123514403C>T	ENSP00000360171:p.Glu2721Lys					TENM1_ENST00000371130.3_Missense_Mutation_p.E2721K|STAG2_ENST00000469481.1_Intron	p.E2728K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					32	8245	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.8182G>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153130	0.78001	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86030	-2.06;-2.03	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.91570	0.7337	M	0.66378	2.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.981;0.981;0.991	D	0.90341	0.4359	10	0.37606	T	0.19	.	18.9144	0.92499	0.0:1.0:0.0:0.0	.	2727;2728;2721	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	2721;2728	ENSP00000360171:E2721K;ENSP00000403954:E2728K	ENSP00000360171:E2721K	E	-	1	0	ODZ1	123342084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.414000	0.81942	0.538000	0.68166	GAA		0.373	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		30	281	0	0	0	1	0	30	281				
DRD1	1812	broad.mit.edu	37	5	174869606	174869606	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:174869606G>T	ENST00000393752.2	-	2	1489	c.497C>A	c.(496-498)gCa>gAa	p.A166E		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	166					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	TGTGGGTTTTGCCTTGTGCCA	0.532																																						ENST00000393752.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(496-498)gCa>gAa		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						145.0	139.0	141.0					5																	174869606		2203	4300	6503	SO:0001583	missense	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869606G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.497C>A	5.37:g.174869606G>T	ENSP00000377353:p.Ala166Glu						p.A166E	NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1489	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	166					B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	c.497C>A	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.732071	0.48939	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.71461	-0.57	5.54	5.54	0.83059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79299	0.4422	L	0.52823	1.66	0.80722	D	1	D	0.55172	0.97	P	0.59825	0.864	T	0.75639	-0.3248	10	0.33141	T	0.24	.	18.8349	0.92157	0.0:0.0:1.0:0.0	.	166	P21728	DRD1_HUMAN	E	166	ENSP00000377353:A166E	ENSP00000327652:A166E	A	-	2	0	DRD1	174802212	1.000000	0.71417	0.967000	0.41034	0.796000	0.44982	9.675000	0.98638	2.768000	0.95171	0.650000	0.86243	GCA		0.532	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		30	237	1	0	6.00712e-18	1	6.65372e-18	30	237				
APOB	338	broad.mit.edu	37	2	21256298	21256298	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:21256298T>C	ENST00000233242.1	-	9	1124	c.997A>G	c.(997-999)Aaa>Gaa	p.K333E	APOB_ENST00000399256.4_Missense_Mutation_p.K333E	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	333	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTTAGTTTTTTCAGTTCCTGG	0.458																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(997-999)Aaa>Gaa		apolipoprotein B	Atorvastatin(DB01076)						173.0	167.0	169.0					2																	21256298		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21256298T>C	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.997A>G	2.37:g.21256298T>C	ENSP00000233242:p.Lys333Glu					APOB_ENST00000399256.4_Missense_Mutation_p.K333E	p.K333E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			9	1124	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.997A>G	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.913522	0.33815	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.68765	-0.35;-0.35	5.13	3.08	0.35506	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.203138	0.34411	N	0.003994	T	0.49236	0.1545	L	0.29908	0.895	0.28622	N	0.908098	B	0.12630	0.006	B	0.12156	0.007	T	0.33471	-0.9867	10	0.18276	T	0.48	.	9.151	0.36962	0.0:0.1069:0.6369:0.2562	.	333	P04114	APOB_HUMAN	E	333	ENSP00000233242:K333E;ENSP00000382200:K333E	ENSP00000233242:K333E	K	-	1	0	APOB	21109803	0.993000	0.37304	0.359000	0.25824	0.020000	0.10135	2.190000	0.42630	0.629000	0.30376	0.533000	0.62120	AAA		0.458	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	491	0	0	0	1	0	9	491				
ADCY2	108	broad.mit.edu	37	5	7727300	7727300	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:7727300G>A	ENST00000338316.4	+	14	1886	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	ADCY2_ENST00000537121.1_Silent_p.A419A|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	599					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)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|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)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CACTGCCAGCGTTCAAGTATT	0.502																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(1795-1797)gcG>gcA		adenylate cyclase 2 (brain)							191.0	168.0	176.0					5																	7727300		2203	4300	6503	SO:0001819	synonymous_variant	108				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	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7727300G>A	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.1797G>A	5.37:g.7727300G>A						RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Silent_p.A419A	p.A599A	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			14	1886	+			599					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	ENST00000338316.4	37	c.1797G>A	CCDS3872.2																																																																																				0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		101	273	0	0	0	1	0	101	273				
ZNF512B	57473	broad.mit.edu	37	20	62654185	62654185	+	Intron	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:62654185A>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.S575C			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CAGCAAGAAGAGTGTGTGGCT	0.577																																						ENST00000535781.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1723-1725)Agt>Tgt		pre-mRNA processing factor 6							123.0	100.0	108.0					20																	62654185		2203	4300	6503	SO:0001627	intron_variant	24148				assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity	g.chr20:62654185A>T	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+25872T>A	20.37:g.62654185A>T						ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	p.S575C			O94906	PRP6_HUMAN			13	1834	+	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)		575					Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	c.1723A>T	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	A	33	5.235978	0.95240	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.34859	1.34;1.34	5.93	5.93	0.95920	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.68220	0.2977	M	0.91612	3.225	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.70016	0.967;0.906	T	0.76366	-0.2985	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	575;575	O94906-2;O94906	.;PRP6_HUMAN	C	575	ENSP00000266079:S575C;ENSP00000446216:S575C	ENSP00000266079:S575C	S	+	1	0	PRPF6	62124629	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.936000	0.92931	2.271000	0.75665	0.459000	0.35465	AGT		0.577	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713		127	273	0	0	0	1	0	127	273				
PTPN21	11099	broad.mit.edu	37	14	88967194	88967194	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:88967194A>C	ENST00000556564.1	-	8	981	c.697T>G	c.(697-699)Tcc>Gcc	p.S233A	PTPN21_ENST00000328736.3_Missense_Mutation_p.S233A|PTPN21_ENST00000554628.1_5'UTR|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	233	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCTCCAATGGATATGTCACTT	0.423																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(697-699)Tcc>Gcc		protein tyrosine phosphatase, non-receptor type 21							147.0	134.0	138.0					14																	88967194		2203	4300	6503	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88967194A>C	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.697T>G	14.37:g.88967194A>C	ENSP00000452414:p.Ser233Ala					RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.S233A|PTPN21_ENST00000554628.1_5'UTR	p.S233A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			8	981	-			233			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.697T>G	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	A	11.56	1.675520	0.29783	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	D;D	0.86432	-2.12;-2.12	5.82	3.45	0.39498	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.641535	0.15753	N	0.246337	T	0.76176	0.3951	N	0.19112	0.55	0.24694	N	0.99329	B	0.21071	0.051	B	0.24541	0.054	T	0.60281	-0.7294	10	0.22109	T	0.4	.	8.273	0.31855	0.7963:0.1343:0.0694:0.0	.	233	Q16825	PTN21_HUMAN	A	233	ENSP00000330276:S233A;ENSP00000452414:S233A	ENSP00000330276:S233A	S	-	1	0	PTPN21	88036947	0.991000	0.36638	0.961000	0.40146	0.418000	0.31294	1.810000	0.38932	0.452000	0.26830	0.533000	0.62120	TCC		0.423	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			10	406	0	0	0	1	0	10	406				
ALG1L	200810	broad.mit.edu	37	3	125647396	125647396	+	IGR	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:125647396T>C	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCCTATGAAGAGCACT	0.502																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647396T>C	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647396T>C								NR_024251.1						0	541	+								D3DNA5	RNA	SNP	ENST00000340333.3	37		CCDS33840.1																																																																																				0.502	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		12	497	0	0	0	1	0	12	497				
DCAF4L1	285429	broad.mit.edu	37	4	41984296	41984296	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:41984296C>T	ENST00000333141.5	+	1	584	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	163								p.R163W(1)		breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						CCCAGCGTCGCGGTTCTTAAG	0.587																																						ENST00000333141.5																			1	Substitution - Missense(1)	p.R163W(1)	endometrium(1)	breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						c.(487-489)Cgg>Tgg		DDB1 and CUL4 associated factor 4-like 1							91.0	87.0	89.0					4																	41984296		2203	4300	6503	SO:0001583	missense	285429							g.chr4:41984296C>T	BC035027	CCDS33978.1	4p13	2013-01-09	2009-07-17	2009-07-17		ENSG00000182308		"""WD repeat domain containing"""	27723	protein-coding gene	gene with protein product			"""WD repeat domain 21B"""	WDR21B			Standard	NM_001029955		Approved		uc003gwk.2	Q3SXM0		ENST00000333141.5:c.487C>T	4.37:g.41984296C>T	ENSP00000327796:p.Arg163Trp						p.R163W	NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN			1	584	+			163					B3KVI3|Q3ZCW8|Q499Y5|Q9UFI0	Missense_Mutation	SNP	ENST00000333141.5	37	c.487C>T	CCDS33978.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433851	0.25813	.	.	ENSG00000182308	ENST00000333141	T	0.71934	-0.61	0.688	0.688	0.18027	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.131807	0.51477	D	0.000084	T	0.41880	0.1178	N	0.08118	0	0.24232	N	0.995396	B	0.30937	0.301	B	0.04013	0.001	T	0.41431	-0.9509	9	0.87932	D	0	.	.	.	.	.	163	Q3SXM0	DC4L1_HUMAN	W	163	ENSP00000327796:R163W	ENSP00000327796:R163W	R	+	1	2	DCAF4L1	41679053	0.037000	0.19845	0.087000	0.20705	0.110000	0.19582	0.221000	0.17680	0.635000	0.30488	0.313000	0.20887	CGG		0.587	DCAF4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360958.1	NM_001029955		39	547	0	0	0	1	0	39	547				
SLC44A4	80736	broad.mit.edu	37	6	31842799	31842799	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:31842799C>T	ENST00000229729.6	-	5	269	c.249G>A	c.(247-249)aaG>aaA	p.K83K	SLC44A4_ENST00000544672.1_Silent_p.K7K|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.K83K	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	83					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGATACGGCTTATCTCTGT	0.572																																						ENST00000544672.1																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35						c.(19-21)aaG>aaA		solute carrier family 44, member 4	Choline(DB00122)						110.0	110.0	110.0					6																	31842799		1510	2709	4219	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31842799C>T	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.249G>A	6.37:g.31842799C>T						SLC44A4_ENST00000229729.6_Silent_p.K83K|SLC44A4_ENST00000465707.1_5'UTR|SLC44A4_ENST00000375562.4_Silent_p.K83K	p.K7K	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN			5	317	-			83					A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.21G>A	CCDS4724.2	.	.	.	.	.	.	.	.	.	.	C	2.890	-0.229929	0.06022	.	.	ENSG00000204385	ENST00000414427	.	.	.	5.2	-0.0359	0.13891	.	.	.	.	.	T	0.38931	0.1059	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29941	-0.9995	4	.	.	.	-5.0277	7.4362	0.27156	0.0:0.4169:0.0:0.5831	.	.	.	.	N	79	.	.	S	-	2	0	SLC44A4	31950778	0.543000	0.26434	0.997000	0.53966	0.310000	0.27922	-0.641000	0.05434	0.088000	0.17205	-0.768000	0.03414	AGC		0.572	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			107	285	0	0	0	1	0	107	285				
MYH14	79784	broad.mit.edu	37	19	50779289	50779289	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:50779289C>A	ENST00000596571.1	+	25	3386	c.3386C>A	c.(3385-3387)tCc>tAc	p.S1129Y	MYH14_ENST00000425460.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000376970.2_Missense_Mutation_p.S1162Y|MYH14_ENST00000440075.2_Missense_Mutation_p.S1170Y|MYH14_ENST00000601313.1_Missense_Mutation_p.S1170Y|MYH14_ENST00000598205.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000262269.8_Missense_Mutation_p.S1170Y			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1129					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTGCTGAAATCCCTGCGGGAG	0.667																																						ENST00000440075.2																			0				central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(3508-3510)tCc>tAc		myosin, heavy chain 14, non-muscle							14.0	18.0	16.0					19																	50779289		1974	4152	6126	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50779289C>A	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.3386C>A	19.37:g.50779289C>A	ENSP00000472819:p.Ser1129Tyr					MYH14_ENST00000262269.8_Missense_Mutation_p.S1170Y|MYH14_ENST00000376970.2_Missense_Mutation_p.S1162Y|MYH14_ENST00000425460.1_Missense_Mutation_p.S1137Y|MYH14_ENST00000596571.1_Missense_Mutation_p.S1129Y|MYH14_ENST00000601313.1_Missense_Mutation_p.S1170Y|MYH14_ENST00000598205.1_Missense_Mutation_p.S1137Y	p.S1170Y			Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	28	3556	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1129					B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.3509C>A	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.976375	0.34848	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	D;T;T;D	0.83075	-1.68;-1.23;-1.23;-1.68	4.0	2.96	0.34315	Myosin tail (1);	.	.	.	.	T	0.82135	0.4971	L	0.27053	0.805	0.29891	N	0.825176	D;D;D	0.69078	0.997;0.996;0.996	P;D;P	0.64877	0.886;0.93;0.886	T	0.75184	-0.3407	9	0.87932	D	0	.	6.3899	0.21581	0.0:0.7775:0.0:0.2225	.	1170;1129;1137	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Y	1129;1170;1162;1137;1129;1170	ENSP00000406273:S1170Y;ENSP00000366169:S1162Y;ENSP00000407879:S1137Y;ENSP00000262269:S1170Y	ENSP00000262269:S1170Y	S	+	2	0	MYH14	55471101	0.162000	0.22906	0.893000	0.35052	0.241000	0.25554	1.539000	0.36104	1.056000	0.40484	-0.391000	0.06502	TCC		0.667	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729		76	69	1	0	1.21457e-23	1	1.36425e-23	76	69				
EVX2	344191	broad.mit.edu	37	2	176947163	176947163	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:176947163C>T	ENST00000308618.4	-	2	578	c.442G>A	c.(442-444)Ggc>Agc	p.G148S		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	148					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		GCAGCCGAGCCGCTCTCTGCG	0.721																																						ENST00000308618.4																			0				kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16						c.(442-444)Ggc>Agc		even-skipped homeobox 2							22.0	25.0	24.0					2																	176947163		1813	3659	5472	SO:0001583	missense	344191					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176947163C>T		CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.442G>A	2.37:g.176947163C>T	ENSP00000312385:p.Gly148Ser						p.G148S	NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)	2	578	-			148						Missense_Mutation	SNP	ENST00000308618.4	37	c.442G>A	CCDS33333.1	.	.	.	.	.	.	.	.	.	.	C	5.086	0.201444	0.09652	.	.	ENSG00000174279	ENST00000308618	D	0.91843	-2.92	4.72	0.647	0.17796	.	0.709282	0.13524	N	0.381464	T	0.78553	0.4301	N	0.05078	-0.115	0.33174	D	0.54864	B	0.09022	0.002	B	0.04013	0.001	T	0.68484	-0.5396	10	0.07813	T	0.8	-15.852	9.6789	0.40059	0.0:0.5938:0.0:0.4062	.	148	Q03828	EVX2_HUMAN	S	148	ENSP00000312385:G148S	ENSP00000312385:G148S	G	-	1	0	EVX2	176655409	0.997000	0.39634	0.727000	0.30756	0.053000	0.15095	0.618000	0.24373	0.244000	0.21351	-0.812000	0.03155	GGC		0.721	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359252.1			4	134	0	0	0	1	0	4	134				
FLT4	2324	broad.mit.edu	37	5	180043443	180043443	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:180043443C>T	ENST00000261937.6	-	23	3221	c.3143G>A	c.(3142-3144)aGc>aAc	p.S1048N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1048N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1048N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1048	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCACGTCGCTTTCCGACAG	0.612																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3142-3144)aGc>aAc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						121.0	111.0	115.0					5																	180043443		2203	4300	6503	SO:0001583	missense	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180043443C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3143G>A	5.37:g.180043443C>T	ENSP00000261937:p.Ser1048Asn					FLT4_ENST00000502649.1_Missense_Mutation_p.S1048N|FLT4_ENST00000393347.3_Missense_Mutation_p.S1048N	p.S1048N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	23	3221	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1048			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	ENST00000261937.6	37	c.3143G>A	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	C	2.878	-0.232462	0.05983	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000512795	D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35	3.73	2.85	0.33270	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.67534	0.2903	N	0.04018	-0.295	0.41499	D	0.988272	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.63283	-0.6672	9	0.02654	T	1	.	3.5762	0.07936	0.0:0.6176:0.0:0.3824	.	1048;1048	E9PD35;P35916	.;VGFR3_HUMAN	N	1048;1048;1048;86	ENSP00000261937:S1048N;ENSP00000377016:S1048N;ENSP00000426057:S1048N;ENSP00000421535:S86N	ENSP00000261937:S1048N	S	-	2	0	FLT4	179976049	1.000000	0.71417	0.817000	0.32601	0.883000	0.51084	3.240000	0.51368	2.107000	0.64212	0.491000	0.48974	AGC		0.612	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			8	294	0	0	0	1	0	8	294				
LSM14B	149986	broad.mit.edu	37	20	60701382	60701382	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:60701382C>A	ENST00000279068.6	+	3	474	c.314C>A	c.(313-315)gCc>gAc	p.A105D	LSM14B_ENST00000253001.4_Missense_Mutation_p.A105D|LSM14B_ENST00000370915.1_Missense_Mutation_p.A105D	NM_144703.2	NP_653304.2	Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	105					multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)	ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCTGCCTCCGCCTCGCCCTTC	0.662																																						ENST00000253001.4																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(313-315)gCc>gAc		LSM14B, SCD6 homolog B (S. cerevisiae)							66.0	70.0	69.0					20																	60701382		2135	4229	6364	SO:0001583	missense	149986				multicellular organismal development|regulation of translation	ribonucleoprotein complex		g.chr20:60701382C>A	AF172328	CCDS46626.1	20q13.33	2010-01-27	2006-12-21	2006-01-24	ENSG00000149657	ENSG00000149657			15887	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 40"", ""family with sequence similarity 61, member B"", ""LSM14 homolog B (SCD6, S. cerevisiae)"""	C20orf40, FAM61B			Standard	NM_144703		Approved	FT005, bA11M20.3, FLJ25473, LSM13, RAP55B	uc010gjy.1	Q9BX40	OTTHUMG00000032901	ENST00000279068.6:c.314C>A	20.37:g.60701382C>A	ENSP00000279068:p.Ala105Asp					LSM14B_ENST00000279068.6_Missense_Mutation_p.A105D|LSM14B_ENST00000370915.1_Missense_Mutation_p.A105D	p.A105D			Q9BX40	LS14B_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.28e-07)		3	520	+	Breast(26;3.97e-09)		105					Q6PFW8|Q96LH8	Missense_Mutation	SNP	ENST00000279068.6	37	c.314C>A	CCDS46626.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053093	0.55218	.	.	ENSG00000149657	ENST00000370915;ENST00000279068;ENST00000253001;ENST00000400318;ENST00000279069	T;T;T	0.49720	0.77;0.79;0.91	5.42	4.46	0.54185	.	0.848322	0.10757	N	0.637597	T	0.41119	0.1145	L	0.29908	0.895	0.09310	N	0.999995	B;B;B	0.32425	0.181;0.361;0.371	B;B;B	0.30782	0.05;0.116;0.12	T	0.39121	-0.9629	10	0.72032	D	0.01	.	16.1344	0.81475	0.0:0.8661:0.1339:0.0	.	105;131;105	Q9BX40;Q5TBQ0;Q9BX40-2	LS14B_HUMAN;.;.	D	105;105;105;131;105	ENSP00000279068:A105D;ENSP00000253001:A105D;ENSP00000383172:A131D	ENSP00000253001:A105D	A	+	2	0	LSM14B	60134777	0.898000	0.30612	0.961000	0.40146	0.992000	0.81027	4.575000	0.60908	1.247000	0.43917	0.511000	0.50034	GCC		0.662	LSM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079996.4	NM_144703		7	258	1	0	2.74318e-10	1	2.96635e-10	7	258				
PRDM9	56979	broad.mit.edu	37	5	23526354	23526354	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:23526354A>G	ENST00000296682.3	+	11	1339	c.1157A>G	c.(1156-1158)gAg>gGg	p.E386G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	386					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAAGCCAGAGATCCATCCA	0.428										HNSCC(3;0.000094)																												ENST00000296682.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1156-1158)gAg>gGg		PR domain containing 9							103.0	100.0	101.0					5																	23526354		2203	4298	6501	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23526354A>G	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1157A>G	5.37:g.23526354A>G	ENSP00000296682:p.Glu386Gly	HNSCC(3;0.000094)					p.E386G	NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN			11	1339	+			386					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1157A>G	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	10.79	1.449112	0.26074	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.10668	2.85	3.52	3.52	0.40303	.	0.208400	0.23949	N	0.042978	T	0.12774	0.0310	L	0.38175	1.15	0.09310	N	1	D	0.58620	0.983	P	0.51016	0.656	T	0.08371	-1.0725	10	0.36615	T	0.2	-13.1052	8.9575	0.35827	1.0:0.0:0.0:0.0	.	386	Q9NQV7	PRDM9_HUMAN	G	386;180	ENSP00000296682:E386G	ENSP00000253473:E180G	E	+	2	0	PRDM9	23562111	0.206000	0.23470	0.306000	0.25113	0.167000	0.22549	-0.024000	0.12435	1.520000	0.48965	0.329000	0.21502	GAG		0.428	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		37	680	0	0	0	1	0	37	680				
GRM4	2914	broad.mit.edu	37	6	34003851	34003851	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:34003851C>T	ENST00000538487.2	-	9	2479	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	GRM4_ENST00000609222.1_Missense_Mutation_p.R546H|GRM4_ENST00000374181.4_Missense_Mutation_p.R679H|GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000544773.2_Missense_Mutation_p.R510H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	679					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CTCGAAGATGCGGTAGATGCG	0.627																																						ENST00000374181.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2035-2037)cGc>cAc		glutamate receptor, metabotropic 4	L-Glutamic Acid(DB00142)						135.0	138.0	137.0					6																	34003851		2203	4300	6503	SO:0001583	missense	2914				activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:34003851C>T	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2036G>A	6.37:g.34003851C>T	ENSP00000440556:p.Arg679His					GRM4_ENST00000374177.3_Missense_Mutation_p.R563H|GRM4_ENST00000544773.1_Missense_Mutation_p.R510H|GRM4_ENST00000455714.2_Missense_Mutation_p.R539H|GRM4_ENST00000538487.1_Missense_Mutation_p.R679H|GRM4_ENST00000535756.1_Missense_Mutation_p.R546H|GRM4_ENST00000545715.1_Missense_Mutation_p.R371H	p.R679H	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN			8	2205	-			679					B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	37	c.2036G>A	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725414	0.89298	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	4.89	4.89	0.63831	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	M	0.92026	3.265	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	0.91635	0.997;0.993;0.996;0.999;0.999	D	0.96098	0.9067	10	0.87932	D	0	.	17.8595	0.88777	0.0:1.0:0.0:0.0	.	632;510;539;679;546	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	H	679;563;371;546;510;679;539	ENSP00000363296:R679H;ENSP00000363292:R563H;ENSP00000445533:R371H;ENSP00000437925:R546H;ENSP00000437730:R510H;ENSP00000440556:R679H;ENSP00000398456:R539H	ENSP00000363292:R563H	R	-	2	0	GRM4	34111829	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.580000	0.82523	2.539000	0.85634	0.462000	0.41574	CGC		0.627	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2			5	403	0	0	0	1	0	5	403				
KHDRBS1	10657	broad.mit.edu	37	1	32504185	32504185	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:32504185C>A	ENST00000327300.7	+	7	1307	c.1140C>A	c.(1138-1140)taC>taA	p.Y380*	KHDRBS1_ENST00000492989.1_Nonsense_Mutation_p.Y341*|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAAAGTTACGAAGGCTACG	0.398																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1138-1140)taC>taA		KH domain containing, RNA binding, signal transduction associated 1							128.0	112.0	117.0					1																	32504185		2203	4300	6503	SO:0001587	stop_gained	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32504185C>A	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1140C>A	1.37:g.32504185C>A	ENSP00000313829:p.Tyr380*					KHDRBS1_ENST00000492989.1_Nonsense_Mutation_p.Y341*|KHDRBS1_ENST00000307714.8_3'UTR	p.Y380*	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			7	1307	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	380						Nonsense_Mutation	SNP	ENST00000327300.7	37	c.1140C>A	CCDS350.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.837817	0.50951	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	.	.	.	5.33	-5.84	0.02318	.	0.586362	0.19556	N	0.111441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6032	0.84821	0.0:0.5165:0.0:0.4835	.	.	.	.	X	380;341;356	.	ENSP00000313829:Y380X	Y	+	3	2	KHDRBS1	32276772	0.962000	0.33011	0.838000	0.33150	0.828000	0.46876	0.016000	0.13377	-1.398000	0.02066	-1.623000	0.00790	TAC		0.398	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		5	259	1	0	1.06961e-07	1	1.14499e-07	5	259				
ACKR3	57007	broad.mit.edu	37	2	237489598	237489598	+	Missense_Mutation	SNP	G	G	A	rs565164449		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:237489598G>A	ENST00000272928.3	+	2	800	c.490G>A	c.(490-492)Gtc>Atc	p.V164I		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	164					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										ACGCCGTGTCGTCTGCATCCT	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		23207	0.0		0.0	False		,,,				2504	0.001					ENST00000272928.3																			0											c.(490-492)Gtc>Atc		atypical chemokine receptor 3							174.0	150.0	158.0					2																	237489598		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489598G>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.490G>A	2.37:g.237489598G>A	ENSP00000272928:p.Val164Ile						p.V164I	NM_020311.2	NP_064707.1					2	800	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.490G>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	G	5.910	0.351918	0.11182	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.36878	1.23;1.23	5.7	4.72	0.59763	GPCR, rhodopsin-like superfamily (1);	0.196767	0.43919	D	0.000519	T	0.19406	0.0466	N	0.17872	0.535	0.38386	D	0.945267	B	0.16802	0.019	B	0.12156	0.007	T	0.13872	-1.0493	10	0.14656	T	0.56	.	6.8618	0.24072	0.1968:0.0:0.8032:0.0	.	164	P25106	CXCR7_HUMAN	I	164	ENSP00000405945:V164I;ENSP00000272928:V164I	ENSP00000272928:V164I	V	+	1	0	CXCR7	237154337	0.997000	0.39634	0.159000	0.22649	0.286000	0.27126	2.955000	0.49121	2.688000	0.91661	0.655000	0.94253	GTC		0.572	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		7	398	0	0	0	1	0	7	398				
ZFYVE20	64145	broad.mit.edu	37	3	15115677	15115677	+	Missense_Mutation	SNP	C	C	T	rs147577833	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:15115677C>T	ENST00000253699.3	-	14	2580	c.1967G>A	c.(1966-1968)cGc>cAc	p.R656H	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	656	Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TTTCAGGATGCGGGCTGAAGG	0.562																																						ENST00000253699.3																			0				NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						c.(1966-1968)cGc>cAc		zinc finger, FYVE domain containing 20							121.0	122.0	122.0					3																	15115677		2203	4300	6503	SO:0001583	missense	64145				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chr3:15115677C>T	AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1967G>A	3.37:g.15115677C>T	ENSP00000253699:p.Arg656His					ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R656H	p.R656H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN			14	2580	-			656			Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A.		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	ENST00000253699.3	37	c.1967G>A	CCDS2623.1	.	.	.	.	.	.	.	.	.	.	C	5.732	0.319588	0.10845	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.52295	0.67;0.67	4.97	-9.08	0.00720	.	1.531570	0.03231	N	0.178906	T	0.20820	0.0501	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15925	-1.0420	10	0.28530	T	0.3	3.7456	8.903	0.35505	0.0:0.3211:0.1356:0.5433	.	656	Q9H1K0	RBNS5_HUMAN	H	656	ENSP00000253699:R656H;ENSP00000422551:R656H	ENSP00000253699:R656H	R	-	2	0	ZFYVE20	15090681	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-2.083000	0.00867	-1.405000	0.01134	CGC		0.562	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252102.2	NM_022340		6	851	0	0	0	1	0	6	851				
OR51B5	282763	broad.mit.edu	37	11	5364535	5364535	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:5364535T>C	ENST00000300773.2	-	1	274	c.220A>G	c.(220-222)Acc>Gcc	p.T74A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	74					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T74A(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGTGGTCAGGGCCAGC	0.542																																						ENST00000300773.2																			1	Substitution - Missense(1)	p.T74A(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(220-222)Acc>Gcc		olfactory receptor, family 51, subfamily B, member 5							45.0	48.0	47.0					11																	5364535		2201	4297	6498	SO:0001583	missense	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5364535T>C	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.220A>G	11.37:g.5364535T>C	ENSP00000300773:p.Thr74Ala					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.T74A	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	274	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	74					B2RN59	Missense_Mutation	SNP	ENST00000300773.2	37	c.220A>G	CCDS31378.1	.	.	.	.	.	.	.	.	.	.	T	11.59	1.683347	0.29872	.	.	ENSG00000242180	ENST00000300773	T	0.00289	8.28	4.76	4.76	0.60689	GPCR, rhodopsin-like superfamily (1);	0.184940	0.26268	N	0.025345	T	0.00210	0.0006	L	0.39898	1.24	0.09310	N	1	B	0.20368	0.044	B	0.24848	0.056	T	0.39522	-0.9610	10	0.46703	T	0.11	.	9.3458	0.38107	0.1604:0.0:0.0:0.8396	.	74	Q9H339	O51B5_HUMAN	A	74	ENSP00000300773:T74A	ENSP00000300773:T74A	T	-	1	0	OR51B5	5321111	0.000000	0.05858	0.060000	0.19600	0.835000	0.47333	-0.615000	0.05597	2.017000	0.59298	0.529000	0.55759	ACC		0.542	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		24	171	0	0	0	1	0	24	171				
MYL3	4634	broad.mit.edu	37	3	46902236	46902236	+	Silent	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:46902236G>T	ENST00000395869.1	-	3	288	c.237C>A	c.(235-237)gtC>gtA	p.V79V	MYL3_ENST00000292327.4_Silent_p.V79V			P08590	MYL3_HUMAN	myosin, light chain 3, alkali; ventricular, skeletal, slow	79	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|skeletal muscle tissue development (GO:0007519)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|cytosol (GO:0005829)|I band (GO:0031674)|muscle myosin complex (GO:0005859)|sarcomere (GO:0030017)	actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|myosin II heavy chain binding (GO:0032038)|structural constituent of muscle (GO:0008307)			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		GCGCCCGCAGGACATCCCCAC	0.607																																					Melanoma(166;130 1949 2249 18977 46142)	ENST00000395869.1																			0				breast(1)|lung(2)	3						c.(235-237)gtC>gtA		myosin, light chain 3, alkali; ventricular, skeletal, slow							104.0	105.0	105.0					3																	46902236		2203	4300	6503	SO:0001819	synonymous_variant	4634				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr3:46902236G>T		CCDS2746.1	3p	2014-09-17	2006-09-29		ENSG00000160808	ENSG00000160808		"""Myosins / Light chain"", ""EF-hand domain containing"""	7584	protein-coding gene	gene with protein product		160790	"""myosin, light polypeptide 3, alkali; ventricular, skeletal, slow"""			1479618, 2784124	Standard	NM_000258		Approved	CMH8, VLC1, MLC1V, MLC1SB	uc003cql.1	P08590	OTTHUMG00000133516	ENST00000395869.1:c.237C>A	3.37:g.46902236G>T						MYL3_ENST00000292327.4_Silent_p.V79V	p.V79V			P08590	MYL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)	3	288	-			79			EF-hand 1.		B2R534|Q9NRS8	Silent	SNP	ENST00000395869.1	37	c.237C>A	CCDS2746.1																																																																																				0.607	MYL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259165.2	NM_000258		53	385	1	0	1.39843e-22	1	1.56526e-22	53	385				
PTPRT	11122	broad.mit.edu	37	20	41400107	41400107	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:41400107T>C	ENST00000373187.1	-	5	651	c.652A>G	c.(652-654)Aag>Gag	p.K218E	PTPRT_ENST00000373184.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373198.4_Missense_Mutation_p.K218E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K218E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K218E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K218E			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	218	Ig-like C2-type.		K -> T (in a gastric cancer). {ECO:0000269|PubMed:15155950}.		cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGAGACCACTTCCCACCAGCA	0.483																																						ENST00000373198.3																			0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(652-654)Aag>Gag		protein tyrosine phosphatase, receptor type, T							199.0	184.0	189.0					20																	41400107		2020	4195	6215	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41400107T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.652A>G	20.37:g.41400107T>C	ENSP00000362283:p.Lys218Glu					PTPRT_ENST00000373184.1_Missense_Mutation_p.K218E|PTPRT_ENST00000356100.2_Missense_Mutation_p.K218E|PTPRT_ENST00000373187.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373193.3_Missense_Mutation_p.K218E|PTPRT_ENST00000373201.1_Missense_Mutation_p.K218E|PTPRT_ENST00000373190.1_Missense_Mutation_p.K218E	p.K218E	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN			5	887	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	218		K -> T (in a gastric cancer).	Ig-like C2-type.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.652A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069814	0.76301	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.45	5.45	0.79879	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.103898	0.64402	D	0.000010	T	0.31857	0.0810	L	0.29908	0.895	0.58432	D	0.999999	P;P	0.41929	0.765;0.653	P;B	0.45753	0.492;0.194	T	0.08351	-1.0726	10	0.62326	D	0.03	.	15.789	0.78338	0.0:0.0:0.0:1.0	.	218;218	O14522-1;O14522	.;PTPRT_HUMAN	E	218	ENSP00000362286:K218E;ENSP00000362283:K218E;ENSP00000362289:K218E;ENSP00000348408:K218E;ENSP00000362294:K218E;ENSP00000362280:K218E;ENSP00000362297:K218E	ENSP00000348408:K218E	K	-	1	0	PTPRT	40833521	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.593000	0.82686	2.188000	0.69820	0.528000	0.53228	AAG		0.483	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			479	919	0	0	0	1	0	479	919				
GC	2638	broad.mit.edu	37	4	72618261	72618261	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:72618261A>G	ENST00000273951.8	-	11	1712	c.1369T>C	c.(1369-1371)Tca>Cca	p.S457P	GC_ENST00000513476.1_Missense_Mutation_p.S457P|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S476P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	457	Albumin 3. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AGAGGAGGTGAGTTTATGGAA	0.438																																						ENST00000273951.8																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45						c.(1369-1371)Tca>Cca		group-specific component (vitamin D binding protein)	Cholecalciferol(DB00169)						178.0	155.0	163.0					4																	72618261		2203	4300	6503	SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72618261A>G	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.1369T>C	4.37:g.72618261A>G	ENSP00000273951:p.Ser457Pro					GC_ENST00000504199.1_Missense_Mutation_p.S476P|GC_ENST00000513476.1_Missense_Mutation_p.S457P|GC_ENST00000503472.1_5'UTR	p.S457P	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	Lung(101;0.148)		11	1712	-		all_hematologic(202;0.107)	457			Albumin 3.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation	SNP	ENST00000273951.8	37	c.1369T>C	CCDS3550.1	.	.	.	.	.	.	.	.	.	.	A	15.65	2.895195	0.52121	.	.	ENSG00000145321	ENST00000273951;ENST00000504199;ENST00000513476	T;T;T	0.26373	1.74;1.74;1.74	5.33	4.06	0.47325	.	0.158365	0.43579	D	0.000552	T	0.45498	0.1345	M	0.67953	2.075	0.37795	D	0.927481	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	T	0.52079	-0.8623	10	0.72032	D	0.01	.	9.9279	0.41503	0.8295:0.1705:0.0:0.0	.	476;457	D6RAK8;D6RF35	.;.	P	457;476;457	ENSP00000273951:S457P;ENSP00000421725:S476P;ENSP00000426683:S457P	ENSP00000273951:S457P	S	-	1	0	GC	72837125	0.999000	0.42202	0.981000	0.43875	0.371000	0.29859	1.903000	0.39858	2.145000	0.66743	0.477000	0.44152	TCA		0.438	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			5	350	0	0	0	1	0	5	350				
ERRFI1	54206	broad.mit.edu	37	1	8073413	8073413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:8073413C>A	ENST00000377482.5	-	4	1469	c.1246G>T	c.(1246-1248)Gaa>Taa	p.E416*	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	416					lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589)	cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100)			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCATTTGTTTCTTCTGCTTCC	0.413																																						ENST00000377482.5																			0				breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16						c.(1246-1248)Gaa>Taa		ERBB receptor feedback inhibitor 1							143.0	138.0	139.0					1																	8073413		2203	4300	6503	SO:0001587	stop_gained	54206				lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	g.chr1:8073413C>A	BC025337	CCDS94.1	1p36.23	2008-02-05			ENSG00000116285	ENSG00000116285			18185	protein-coding gene	gene with protein product		608069				10749885, 2780291, 12226756, 11003669	Standard	NM_018948		Approved	MIG-6, GENE-33, RALT	uc001aoz.3	Q9UJM3	OTTHUMG00000001221	ENST00000377482.5:c.1246G>T	1.37:g.8073413C>A	ENSP00000366702:p.Glu416*					ERRFI1_ENST00000474874.1_Intron	p.E416*	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	1469	-	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	416					B2RDX9|Q9NTG9|Q9UD05	Nonsense_Mutation	SNP	ENST00000377482.5	37	c.1246G>T	CCDS94.1	.	.	.	.	.	.	.	.	.	.	C	35	5.528517	0.96446	.	.	ENSG00000116285	ENST00000377482	.	.	.	5.9	5.9	0.94986	.	0.071311	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-2.2592	17.4349	0.87548	0.0:1.0:0.0:0.0	.	.	.	.	X	416	.	ENSP00000366702:E416X	E	-	1	0	ERRFI1	7996000	1.000000	0.71417	0.709000	0.30452	0.502000	0.33828	5.025000	0.64097	2.788000	0.95919	0.650000	0.86243	GAA		0.413	ERRFI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003617.1	NM_018948		9	721	1	0	5.4927e-09	1	5.89957e-09	9	721				
CD5L	922	broad.mit.edu	37	1	157804321	157804321	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:157804321T>C	ENST00000368174.4	-	4	690	c.594A>G	c.(592-594)cgA>cgG	p.R198R	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	198	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			AGATGGGTTTTCGGCCATAGG	0.587																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(592-594)cgA>cgG		CD5 molecule-like							77.0	68.0	71.0					1																	157804321		2203	4300	6503	SO:0001819	synonymous_variant	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804321T>C	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.594A>G	1.37:g.157804321T>C							p.R198R	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	690	-	all_hematologic(112;0.0378)		198			SRCR 2.		A8K7M5|Q6UX63	Silent	SNP	ENST00000368174.4	37	c.594A>G	CCDS1171.1																																																																																				0.587	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		27	262	0	0	0	1	0	27	262				
TBC1D9B	23061	broad.mit.edu	37	5	179297387	179297387	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:179297387G>A	ENST00000356834.3	-	16	2630	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R865W|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R41W|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R23W	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	865						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGAGTTCCCGGAACTGGCTG	0.647																																						ENST00000356834.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28						c.(2593-2595)Cgg>Tgg		TBC1 domain family, member 9B (with GRAM domain)							86.0	84.0	85.0					5																	179297387		2203	4300	6503	SO:0001583	missense	23061					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity	g.chr5:179297387G>A	AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.2593C>T	5.37:g.179297387G>A	ENSP00000349291:p.Arg865Trp					TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R23W|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R41W|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R865W	p.R865W	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		16	2630	-	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	865					D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	c.2593C>T	CCDS43408.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.976237	0.34848	.	.	ENSG00000197226	ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	4.93	3.05	0.35203	EF-hand-like domain (1);	0.848033	0.10554	N	0.661105	T	0.66528	0.2798	M	0.67397	2.05	0.25225	N	0.989871	D;P;D;D;D;D	0.89917	1.0;0.951;0.986;0.992;0.986;0.971	D;B;P;P;P;B	0.71184	0.972;0.329;0.453;0.655;0.453;0.426	T	0.57051	-0.7877	10	0.87932	D	0	-5.8709	13.6516	0.62314	0.0:0.0:0.5677:0.4323	.	41;209;865;865;865;81	B4E3K0;B3KQE0;A1L3A9;Q66K14-2;Q66K14;B3KM54	.;.;.;.;TBC9B_HUMAN;.	W	865;865;41;23	ENSP00000349291:R865W;ENSP00000347375:R865W;ENSP00000430293:R41W;ENSP00000401585:R23W	ENSP00000347375:R865W	R	-	1	2	TBC1D9B	179229993	0.680000	0.27605	0.765000	0.31456	0.013000	0.08279	0.722000	0.25925	1.060000	0.40578	-0.320000	0.08662	CGG		0.647	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043		152	258	0	0	0	1	0	152	258				
TLN2	83660	broad.mit.edu	37	15	62948259	62948259	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:62948259G>A	ENST00000561311.1	+	7	864	c.634G>A	c.(634-636)Gtg>Atg	p.V212M	TLN2_ENST00000306829.6_Missense_Mutation_p.V212M			Q9Y4G6	TLN2_HUMAN	talin 2	212	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GAGAGACCCCGTGCAGCTGAA	0.463																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(634-636)Gtg>Atg		talin 2							110.0	93.0	99.0					15																	62948259		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:62948259G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.634G>A	15.37:g.62948259G>A	ENSP00000453508:p.Val212Met					TLN2_ENST00000306829.6_Missense_Mutation_p.V212M	p.V212M			Q9Y4G6	TLN2_HUMAN			7	864	+			212			FERM.		A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.634G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	30	5.053664	0.93793	.	.	ENSG00000171914	ENST00000306829	D	0.81659	-1.52	5.47	5.47	0.80525	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	M	0.85630	2.765	0.80722	D	1	D	0.76494	0.999	D	0.66979	0.948	D	0.90454	0.4441	10	0.49607	T	0.09	-21.5147	18.6826	0.91551	0.0:0.0:1.0:0.0	.	212	Q9Y4G6	TLN2_HUMAN	M	212	ENSP00000303476:V212M	ENSP00000303476:V212M	V	+	1	0	TLN2	60735551	1.000000	0.71417	0.962000	0.40283	0.941000	0.58515	9.803000	0.99136	2.723000	0.93209	0.655000	0.94253	GTG		0.463	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			36	288	0	0	0	1	0	36	288				
POTEE	445582	broad.mit.edu	37	2	131976197	131976197	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:131976197G>A	ENST00000356920.5	+	1	316	c.222G>A	c.(220-222)ggG>ggA	p.G74G	POTEE_ENST00000358087.5_Silent_p.G74G|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	74					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											GCTGCAGGGGGAGTGGCAAGA	0.587																																						ENST00000356920.5																			0											c.(220-222)ggG>ggA		POTE ankyrin domain family, member E							129.0	127.0	128.0					2																	131976197		2203	4300	6503	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:131976197G>A	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.222G>A	2.37:g.131976197G>A						PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Silent_p.G74G|PLEKHB2_ENST00000303908.3_Intron	p.G74G	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	316	+			74					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.222G>A	CCDS46414.1																																																																																				0.587	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		44	870	0	0	0	1	0	44	870				
RNF44	22838	broad.mit.edu	37	5	175956566	175956566	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:175956566G>A	ENST00000274811.4	-	9	1618	c.1094C>T	c.(1093-1095)tCg>tTg	p.S365L	RNF44_ENST00000509404.1_5'Flank|RNF44_ENST00000537487.1_Missense_Mutation_p.S284L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	365							zinc ion binding (GO:0008270)			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGCGGTACGACGGGAGCTG	0.662																																						ENST00000274811.4																			0				endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8						c.(1093-1095)tCg>tTg		ring finger protein 44							93.0	87.0	89.0					5																	175956566		2203	4300	6503	SO:0001583	missense	22838						zinc ion binding	g.chr5:175956566G>A	AB029023	CCDS4404.1	5q35.3	2013-01-09			ENSG00000146083	ENSG00000146083		"""RING-type (C3HC4) zinc fingers"""	19180	protein-coding gene	gene with protein product						10470851	Standard	NM_014901		Approved	KIAA1100	uc003mek.1	Q7L0R7	OTTHUMG00000130664	ENST00000274811.4:c.1094C>T	5.37:g.175956566G>A	ENSP00000274811:p.Ser365Leu					RNF44_ENST00000537487.1_Missense_Mutation_p.S284L	p.S365L	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		9	1618	-	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	365					B4DYE0|Q8ND05|Q9UPQ2	Missense_Mutation	SNP	ENST00000274811.4	37	c.1094C>T	CCDS4404.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180129	0.78564	.	.	ENSG00000146083	ENST00000274811;ENST00000537487	T;T	0.66638	-0.22;-0.22	5.07	5.07	0.68467	.	0.059437	0.64402	D	0.000001	T	0.67344	0.2883	M	0.65498	2.005	0.53005	D	0.999967	D;B	0.57571	0.98;0.37	B;B	0.41988	0.372;0.125	T	0.74100	-0.3774	10	0.59425	D	0.04	-20.0535	18.2435	0.89977	0.0:0.0:1.0:0.0	.	54;365	Q6ZS76;Q7L0R7	.;RNF44_HUMAN	L	365;284	ENSP00000274811:S365L;ENSP00000440352:S284L	ENSP00000274811:S365L	S	-	2	0	RNF44	175889172	1.000000	0.71417	0.028000	0.17463	0.386000	0.30323	8.977000	0.93446	2.642000	0.89623	0.549000	0.68633	TCG		0.662	RNF44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253156.2			30	230	0	0	0	1	0	30	230				
TSPAN5	10098	broad.mit.edu	37	4	99399943	99399943	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:99399943A>T	ENST00000305798.3	-	5	871	c.469T>A	c.(469-471)Ttt>Att	p.F157I	TSPAN5_ENST00000505184.1_Missense_Mutation_p.F86I|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	157					establishment of protein localization to plasma membrane (GO:0090002)|positive regulation of Notch signaling pathway (GO:0045747)|protein maturation (GO:0051604)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)			kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCAGCTCCAAAAGCCCCACAG	0.483																																						ENST00000305798.3																			0				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14						c.(469-471)Ttt>Att		tetraspanin 5							77.0	74.0	75.0					4																	99399943		2203	4300	6503	SO:0001583	missense	10098					integral to membrane		g.chr4:99399943A>T		CCDS3646.1	4q22.3	2013-02-14	2005-03-21	2005-03-21	ENSG00000168785	ENSG00000168785		"""Tetraspanins"""	17753	protein-coding gene	gene with protein product		613136	"""transmembrane 4 superfamily member 9"""	TM4SF9			Standard	NM_005723		Approved	Tspan-5, NET-4	uc003hub.3	P62079	OTTHUMG00000131008	ENST00000305798.3:c.469T>A	4.37:g.99399943A>T	ENSP00000307701:p.Phe157Ile					TSPAN5_ENST00000509168.1_5'UTR|TSPAN5_ENST00000505184.1_Missense_Mutation_p.F86I	p.F157I	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)	5	871	-			157					B2RDY2|O60628|O60746|Q6FHE5|Q9JLY1	Missense_Mutation	SNP	ENST00000305798.3	37	c.469T>A	CCDS3646.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.703160	0.48412	.	.	ENSG00000168785	ENST00000305798;ENST00000505184;ENST00000515287	T;T;T	0.78924	-1.22;-1.22;-1.22	5.27	5.27	0.74061	Tetraspanin, EC2 domain (1);	0.045332	0.85682	D	0.000000	T	0.67116	0.2859	N	0.21142	0.635	0.80722	D	1	B	0.24651	0.108	B	0.29267	0.1	T	0.62699	-0.6799	10	0.23302	T	0.38	-13.2822	15.2341	0.73416	1.0:0.0:0.0:0.0	.	157	P62079	TSN5_HUMAN	I	157;86;86	ENSP00000307701:F157I;ENSP00000423916:F86I;ENSP00000423504:F86I	ENSP00000307701:F157I	F	-	1	0	TSPAN5	99618966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.000000	0.58554	0.454000	0.30748	TTT		0.483	TSPAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253641.2	NM_005723		14	174	0	0	0	1	0	14	174				
DNAH5	1767	broad.mit.edu	37	5	13883067	13883067	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:13883067G>T	ENST00000265104.4	-	20	3224	c.3120C>A	c.(3118-3120)tgC>tgA	p.C1040*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1040	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACTGATGATGCACTCCACGG	0.532									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3118-3120)tgC>tgA		dynein, axonemal, heavy chain 5							172.0	151.0	158.0					5																	13883067		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883067G>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3120C>A	5.37:g.13883067G>T	ENSP00000265104:p.Cys1040*					CTB-51A17.1_ENST00000503244.1_RNA	p.C1040*	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			20	3224	-	Lung NSC(4;0.00476)		1040			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.3120C>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	40	8.305138	0.98752	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	-0.747	0.11091	.	0.259338	0.45361	D	0.000370	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.0446	0.42180	0.7137:0.0:0.2863:0.0	.	.	.	.	X	1040	.	ENSP00000265104:C1040X	C	-	3	2	DNAH5	13936067	0.996000	0.38824	0.398000	0.26321	0.532000	0.34746	0.849000	0.27723	-0.060000	0.13132	-0.252000	0.11476	TGC		0.532	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		40	634	1	0	9.14704e-12	1	9.99283e-12	40	634				
POTEH	23784	broad.mit.edu	37	22	16287662	16287662	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:16287662C>A	ENST00000343518.6	-	1	275	c.224G>T	c.(223-225)aGc>aTc	p.S75I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	75										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GCTCTTGCCGCTCCCCCTGCA	0.582																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(223-225)aGc>aTc		POTE ankyrin domain family, member H							85.0	99.0	94.0					22																	16287662		2085	3878	5963	SO:0001583	missense	23784							g.chr22:16287662C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.224G>T	22.37:g.16287662C>A	ENSP00000340610:p.Ser75Ile						p.S75I	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	275	-			75					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.224G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	9.532	1.111140	0.20714	.	.	ENSG00000198062	ENST00000343518;ENST00000355872	T	0.34667	1.35	.	.	.	.	.	.	.	.	T	0.33527	0.0866	L	0.52573	1.65	0.09310	N	1	P	0.39520	0.676	B	0.42959	0.403	T	0.25398	-1.0133	7	0.87932	D	0	.	.	.	.	.	75	Q6S545	POTEH_HUMAN	I	75	ENSP00000340610:S75I	ENSP00000340610:S75I	S	-	2	0	POTEH	14667662	0.005000	0.15991	0.073000	0.20177	0.074000	0.17049	0.275000	0.18698	0.149000	0.19098	0.152000	0.16155	AGC		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		13	1329	1	0	0.000602214	1	0.000619698	13	1329				
RUVBL2	10856	broad.mit.edu	37	19	49513093	49513093	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:49513093G>A	ENST00000595090.1	+	7	987	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	RUVBL2_ENST00000601968.1_Missense_Mutation_p.G130S|RUVBL2_ENST00000413176.2_Missense_Mutation_p.G130S	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	175					ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTACGACCTGGGCACCAAGAT	0.632																																						ENST00000413176.2																			0				large_intestine(1)|upper_aerodigestive_tract(1)	2						c.(388-390)Ggc>Agc		RuvB-like AAA ATPase 2							103.0	104.0	104.0					19																	49513093		2081	4212	6293	SO:0001583	missense	10856				cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding	g.chr19:49513093G>A	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.523G>A	19.37:g.49513093G>A	ENSP00000473172:p.Gly175Ser					RUVBL2_ENST00000601968.1_Missense_Mutation_p.G130S|RUVBL2_ENST00000595090.1_Missense_Mutation_p.G175S	p.G130S			Q9Y230	RUVB2_HUMAN		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)	7	1536	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	175					B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Missense_Mutation	SNP	ENST00000595090.1	37	c.388G>A	CCDS42588.1	.	.	.	.	.	.	.	.	.	.	G	31	5.095918	0.94197	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	T;T	0.56103	0.48;0.88	4.31	4.31	0.51392	TIP49, C-terminal (1);Nucleic acid-binding, OB-fold-like (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.78672	0.4320	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84525	0.0630	10	0.72032	D	0.01	-36.9157	14.6799	0.69009	0.0:0.0:1.0:0.0	.	175;175;141	B4DW30;Q9Y230;B3KNL2	.;RUVB2_HUMAN;.	S	175;130	ENSP00000221413:G175S;ENSP00000413890:G130S	ENSP00000221413:G175S	G	+	1	0	RUVBL2	54204905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.912000	0.75753	2.417000	0.82017	0.655000	0.94253	GGC		0.632	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466235.1			6	567	0	0	0	1	0	6	567				
DENND2C	163259	broad.mit.edu	37	1	115143483	115143483	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:115143483G>A	ENST00000393274.1	-	14	2539	c.1914C>T	c.(1912-1914)cgC>cgT	p.R638R	DENND2C_ENST00000393276.3_Silent_p.R581R|DENND2C_ENST00000393277.1_Silent_p.R638R|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	638	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTGATGGTGCGTCCAGGAG	0.448																																						ENST00000393274.1																			0				NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37						c.(1912-1914)cgC>cgT		DENN/MADD domain containing 2C							126.0	121.0	123.0					1																	115143483		2203	4300	6503	SO:0001819	synonymous_variant	163259							g.chr1:115143483G>A		CCDS875.1, CCDS58018.1	1p13.2-p13.1	2012-10-03			ENSG00000175984	ENSG00000175984		"""DENN/MADD domain containing"""	24748	protein-coding gene	gene with protein product							Standard	NM_198459		Approved	FLJ37099, DKFZp686G0351, DKFZp779P1149, dJ1156J9.1, RP5-1156J9.1	uc001efd.1	Q68D51	OTTHUMG00000011893	ENST00000393274.1:c.1914C>T	1.37:g.115143483G>A						DENND2C_ENST00000393277.1_Silent_p.R638R|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.R581R	p.R638R	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	2539	-	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	638			DENN.		B1AL26|Q5TCX6|Q6P3R3	Silent	SNP	ENST00000393274.1	37	c.1914C>T	CCDS58018.1																																																																																				0.448	DENND2C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000314822.1	NM_198459		14	423	0	0	0	1	0	14	423				
CLVS1	157807	broad.mit.edu	37	8	62212498	62212498	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:62212498G>T	ENST00000519846.1	+	3	584	c.112G>T	c.(112-114)Gct>Tct	p.A38S	CLVS1_ENST00000325897.4_Missense_Mutation_p.A38S|RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	38					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TATAGAGAAAGCTCGCCTGGA	0.438																																						ENST00000519846.1																			0				endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(112-114)Gct>Tct		clavesin 1							79.0	74.0	76.0					8																	62212498		2203	4300	6503	SO:0001583	missense	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212498G>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.112G>T	8.37:g.62212498G>T	ENSP00000428402:p.Ala38Ser					CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.A38S	p.A38S			Q8IUQ0	CLVS1_HUMAN			3	584	+			38					B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	ENST00000519846.1	37	c.112G>T	CCDS6176.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679508	0.68042	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	D;D	0.83673	-1.75;-1.75	5.79	5.79	0.91817	Phosphatidylinositol transfer protein-like, N-terminal (1);	0.052913	0.85682	D	0.000000	D	0.88262	0.6389	M	0.88310	2.945	0.58432	D	0.999999	P;P;B	0.42941	0.514;0.794;0.373	B;P;B	0.46049	0.133;0.502;0.133	D	0.89801	0.3975	10	0.66056	D	0.02	-24.076	14.8236	0.70091	0.0:0.0:0.8562:0.1438	.	38;38;38	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	S	38	ENSP00000428402:A38S;ENSP00000325506:A38S	ENSP00000325506:A38S	A	+	1	0	CLVS1	62375052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.871000	0.87180	2.746000	0.94184	0.655000	0.94253	GCT		0.438	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		8	255	1	0	0.000274275	1	0.000284996	8	255				
TMPRSS6	164656	broad.mit.edu	37	22	37485772	37485772	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:37485772C>A	ENST00000346753.3	-	7	825	c.709G>T	c.(709-711)Ggg>Tgg	p.G237W	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G228W|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G237W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G228W	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	237	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTCAGGCCCCTTCAGCCGG	0.667																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(682-684)Ggg>Tgg		transmembrane protease, serine 6							19.0	20.0	20.0					22																	37485772		2203	4299	6502	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37485772C>A	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.709G>T	22.37:g.37485772C>A	ENSP00000334962:p.Gly237Trp					TMPRSS6_ENST00000442782.2_Missense_Mutation_p.G237W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G228W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.G237W	p.G228W			Q8IU80	TMPS6_HUMAN			7	822	-			237			CUB 1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.682G>T	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.140504	0.77775	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782	D;D;D;D;T	0.92149	-2.98;-2.98;-2.97;-2.98;-1.0	4.57	4.57	0.56435	CUB (1);	0.000000	0.85682	D	0.000000	D	0.93923	0.8055	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.94893	0.8049	10	0.72032	D	0.01	.	17.7056	0.88308	0.0:1.0:0.0:0.0	.	237;228;237	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	W	228;237;228;228;237	ENSP00000371211:G228W;ENSP00000334962:G237W;ENSP00000385453:G228W;ENSP00000384964:G228W;ENSP00000397691:G237W	ENSP00000334962:G237W	G	-	1	0	TMPRSS6	35815718	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	5.170000	0.64990	2.234000	0.73211	0.455000	0.32223	GGG		0.667	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		4	92	1	0	0.150653	1	0.152084	4	92				
NXF5	55998	broad.mit.edu	37	X	101091708	101091708	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:101091708G>T	ENST00000361708.2	-	16	1537	c.1178C>A	c.(1177-1179)cCa>cAa	p.P393Q	NXF5_ENST00000473265.2_Intron|NXF5_ENST00000537026.1_Intron			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	393					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GCACTAACCTGGAATTGCGGC	0.522																																						ENST00000361708.2																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						c.(1177-1179)cCa>cAa		nuclear RNA export factor 5							230.0	164.0	186.0					X																	101091708		2203	4300	6503	SO:0001583	missense	55998				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chrX:101091708G>T	AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.1178C>A	X.37:g.101091708G>T	ENSP00000355286:p.Pro393Gln					NXF5_ENST00000473265.2_Intron|NXF5_ENST00000537026.1_Intron	p.P393Q			Q9H1B4	NXF5_HUMAN			16	1537	-			393					A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Missense_Mutation	SNP	ENST00000361708.2	37	c.1178C>A		.	.	.	.	.	.	.	.	.	.	.	11.94	1.788340	0.31593	.	.	ENSG00000126952	ENST00000361708	T	0.49139	0.79	2.13	-1.23	0.09465	.	0.068364	0.56097	U	0.000029	T	0.19525	0.0469	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.16394	-1.0404	7	0.11485	T	0.65	.	2.7932	0.05394	0.1747:0.0:0.3272:0.4981	.	.	.	.	Q	393	ENSP00000355286:P393Q	ENSP00000263032:P393Q	P	-	2	0	NXF5	100978364	0.995000	0.38212	0.001000	0.08648	0.105000	0.19272	0.115000	0.15540	-0.449000	0.07117	0.279000	0.19357	CCA		0.522	NXF5-201	KNOWN	basic	protein_coding	protein_coding				9	398	1	0	2.74318e-10	1	2.96635e-10	9	398				
IL36G	56300	broad.mit.edu	37	2	113742500	113742500	+	Silent	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:113742500C>A	ENST00000259205.4	+	5	453	c.384C>A	c.(382-384)tcC>tcA	p.S128S	IL36G_ENST00000376489.2_Silent_p.S93S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	128					cell-cell signaling (GO:0007267)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTAGGACCTCCACCCTTGAGT	0.517																																						ENST00000259205.4																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						c.(382-384)tcC>tcA		interleukin 36, gamma							137.0	121.0	126.0					2																	113742500		2203	4300	6503	SO:0001819	synonymous_variant	56300				cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113742500C>A	AF200492	CCDS2108.1, CCDS62992.1	2q12-q21	2011-07-14	2011-06-06	2011-06-06	ENSG00000136688	ENSG00000136688		"""Interleukins and interleukin receptors"""	15741	protein-coding gene	gene with protein product	"""interleukin-1 homolog 1"", ""interleukin 1-related protein 2"", ""interleukin-1 epsilon"""	605542	"""interleukin 1 family, member 9"""	IL1F9		10860666, 10744718, 11991722, 11991723	Standard	NM_019618		Approved	IL-1H1, IL-1RP2, IL-1F9, IL1H1, IL1E	uc002tio.1	Q9NZH8	OTTHUMG00000131336	ENST00000259205.4:c.384C>A	2.37:g.113742500C>A						IL36G_ENST00000376489.2_Silent_p.S93S	p.S128S	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN			5	453	+			128					Q56B91|Q6UVX7|Q7RTZ9	Silent	SNP	ENST00000259205.4	37	c.384C>A	CCDS2108.1																																																																																				0.517	IL36G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330713.2	NM_019618		312	241	1	0	1.20034e-152	1	1.39239e-152	312	241				
KLHL14	57565	broad.mit.edu	37	18	30349623	30349623	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:30349623T>A	ENST00000359358.4	-	2	1370	c.932A>T	c.(931-933)cAg>cTg	p.Q311L	AC012123.1_ENST00000426194.1_5'Flank|KLHL14_ENST00000358095.4_Missense_Mutation_p.Q311L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	311						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GGCCAGGCTCTGCCTGCAGTG	0.647																																						ENST00000359358.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						c.(931-933)cAg>cTg		kelch-like family member 14							38.0	40.0	39.0					18																	30349623		2194	4287	6481	SO:0001583	missense	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349623T>A	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.932A>T	18.37:g.30349623T>A	ENSP00000352314:p.Gln311Leu					KLHL14_ENST00000358095.4_Missense_Mutation_p.Q311L	p.Q311L	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN			2	1370	-			311					A6NNW1|B4DHA0|Q8WU41	Missense_Mutation	SNP	ENST00000359358.4	37	c.932A>T	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	t	12.04	1.818789	0.32145	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	T;T	0.79247	-0.95;-1.25	5.16	5.16	0.70880	Galactose oxidase, beta-propeller (1);	0.259912	0.41712	D	0.000839	T	0.79941	0.4533	M	0.84948	2.725	0.52099	D	0.999949	B	0.12013	0.005	B	0.06405	0.002	T	0.78404	-0.2217	10	0.52906	T	0.07	.	14.1872	0.65612	0.0:0.0:0.0:1.0	.	311	Q9P2G3	KLH14_HUMAN	L	311	ENSP00000352314:Q311L;ENSP00000350808:Q311L	ENSP00000350808:Q311L	Q	-	2	0	KLHL14	28603621	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	6.024000	0.70857	1.957000	0.56846	0.524000	0.50904	CAG		0.647	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			23	232	0	0	0	1	0	23	232				
SLC4A4	8671	broad.mit.edu	37	4	72317017	72317017	+	Splice_Site	SNP	C	C	T	rs530167253		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:72317017C>T	ENST00000264485.5	+	11	1438	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	SLC4A4_ENST00000340595.3_Splice_Site_p.R397W|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Splice_Site_p.R441W|SLC4A4_ENST00000512686.1_Splice_Site_p.R397W|SLC4A4_ENST00000351898.6_Splice_Site_p.R441W	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	441					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R397W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GCGAACTGGACGGTAACTGAC	0.438													C|||	1	0.000199681	0.0	0.0	5008	,	,		19879	0.0		0.0	False		,,,				2504	0.001					ENST00000340595.3																			1	Substitution - Missense(1)	p.R397W(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e8+1		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							205.0	161.0	176.0					4																	72317017		2203	4300	6503	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72317017C>T	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1322+1C>T	4.37:g.72317017C>T						SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Splice_Site_p.R441_splice|SLC4A4_ENST00000425175.1_Splice_Site_p.R441_splice|SLC4A4_ENST00000351898.6_Splice_Site_p.R441_splice|SLC4A4_ENST00000512686.1_Splice_Site_p.R397_splice	p.R397_splice	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		8	1385	+			441					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37	c.1190_splice	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.125221	0.56721	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000512686;ENST00000340595	D;D;D;D;D	0.81908	-1.55;-1.55;-1.55;-1.55;-1.55	6.08	1.91	0.25777	Bicarbonate transporter, C-terminal (1);	0.042903	0.85682	D	0.000000	D	0.92315	0.7562	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.999;1.0;0.999	D;D;D;P;D;D	0.91635	0.993;0.999;0.98;0.901;0.982;0.973	D	0.93676	0.6994	10	0.87932	D	0	.	15.7218	0.77718	0.6097:0.3903:0.0:0.0	.	441;441;397;397;421;441	A5JJ20;Q9Y6R1-4;Q9Y6R1-2;Q9Y6R1-3;Q9Y6R3;Q9Y6R1	.;.;.;.;.;S4A4_HUMAN	W	441;441;441;397;397	ENSP00000264485:R441W;ENSP00000393557:R441W;ENSP00000307349:R441W;ENSP00000422400:R397W;ENSP00000344272:R397W	ENSP00000264485:R441W	R	+	1	2	SLC4A4	72535881	0.995000	0.38212	1.000000	0.80357	0.361000	0.29550	0.958000	0.29227	0.424000	0.26061	-0.122000	0.15005	CGG		0.438	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Missense_Mutation	10	211	0	0	0	1	0	10	211				
PRR22	163154	broad.mit.edu	37	19	5783697	5783697	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:5783697G>A	ENST00000419421.2	-	3	665	c.561C>T	c.(559-561)ccC>ccT	p.P187P		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	187	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTCCTTGGGGGGTGGGGGTG	0.701																																						ENST00000419421.2																			0				endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						c.(559-561)ccC>ccT		proline rich 22							4.0	6.0	5.0					19																	5783697		1989	4014	6003	SO:0001819	synonymous_variant	163154							g.chr19:5783697G>A	BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.561C>T	19.37:g.5783697G>A							p.P187P	NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN			3	665	-			185			Pro-rich.		E9PB31	Silent	SNP	ENST00000419421.2	37	c.561C>T	CCDS45933.1																																																																																				0.701	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368523.1	NM_153359		6	19	0	0	0	1	0	6	19				
ARRB2	409	broad.mit.edu	37	17	4621608	4621608	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:4621608C>G	ENST00000269260.2	+	9	907	c.674C>G	c.(673-675)tCc>tGc	p.S225C	ARRB2_ENST00000571206.1_Missense_Mutation_p.S33C|ARRB2_ENST00000572457.1_Missense_Mutation_p.S33C|ARRB2_ENST00000574954.1_Missense_Mutation_p.S33C|ARRB2_ENST00000346341.2_Missense_Mutation_p.S210C|ARRB2_ENST00000412477.3_Missense_Mutation_p.S246C|ARRB2_ENST00000381488.6_Missense_Mutation_p.S210C|ARRB2_ENST00000575877.1_Missense_Mutation_p.S225C	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	225					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCAACAACTCCACCAAGACC	0.537																																						ENST00000269260.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(673-675)tCc>tGc		arrestin, beta 2							89.0	85.0	86.0					17																	4621608		2203	4300	6503	SO:0001583	missense	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4621608C>G		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.674C>G	17.37:g.4621608C>G	ENSP00000269260:p.Ser225Cys					ARRB2_ENST00000381488.6_Missense_Mutation_p.S210C|ARRB2_ENST00000575877.1_Missense_Mutation_p.S225C|ARRB2_ENST00000571206.1_Missense_Mutation_p.S33C|ARRB2_ENST00000412477.3_Missense_Mutation_p.S246C|ARRB2_ENST00000574954.1_Missense_Mutation_p.S33C|ARRB2_ENST00000346341.2_Missense_Mutation_p.S210C|ARRB2_ENST00000572457.1_Missense_Mutation_p.S33C	p.S225C	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN			9	907	+			225					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Missense_Mutation	SNP	ENST00000269260.2	37	c.674C>G	CCDS11050.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424706	0.83667	.	.	ENSG00000141480	ENST00000381488;ENST00000269260;ENST00000346341;ENST00000412477	T;T	0.23950	1.88;1.88	4.03	4.03	0.46877	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.112316	0.64402	D	0.000007	T	0.54175	0.1842	M	0.85945	2.785	0.80722	D	1	P;D;D;D;D	0.89917	0.925;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.85;0.996;0.998;0.989;0.997	T	0.63014	-0.6731	10	0.87932	D	0	-20.3777	14.026	0.64586	0.0:1.0:0.0:0.0	.	246;210;225;210;225	B4DLW0;P32121-2;P32121-3;G5E980;P32121	.;.;.;.;ARRB2_HUMAN	C	225;225;210;226	ENSP00000269260:S225C;ENSP00000341895:S210C	ENSP00000269260:S225C	S	+	2	0	ARRB2	4568357	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	5.720000	0.68470	2.247000	0.74100	0.561000	0.74099	TCC		0.537	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313		80	43	0	0	0	1	0	80	43				
SEL1L	6400	broad.mit.edu	37	14	81952666	81952666	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:81952666C>T	ENST00000336735.4	-	17	1881	c.1765G>A	c.(1765-1767)Gca>Aca	p.A589T		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	589	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A589T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTGCTTTGTGCCACTTCATAG	0.428																																						ENST00000336735.4																			1	Substitution - Missense(1)	p.A589T(1)	urinary_tract(1)	breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1765-1767)Gca>Aca		sel-1 suppressor of lin-12-like (C. elegans)							252.0	255.0	254.0					14																	81952666		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81952666C>T		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1765G>A	14.37:g.81952666C>T	ENSP00000337053:p.Ala589Thr						p.A589T	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	17	1881	-			589			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1765G>A	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	36	5.646842	0.96714	.	.	ENSG00000071537	ENST00000336735	T	0.62232	0.04	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.85643	0.5744	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88263	0.2924	10	0.87932	D	0	.	20.3207	0.98668	0.0:1.0:0.0:0.0	.	589	Q9UBV2	SE1L1_HUMAN	T	589	ENSP00000337053:A589T	ENSP00000337053:A589T	A	-	1	0	SEL1L	81022419	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.476000	0.81055	2.813000	0.96785	0.561000	0.74099	GCA		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		8	1295	0	0	0	1	0	8	1295				
MNS1	55329	broad.mit.edu	37	15	56735721	56735721	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:56735721T>C	ENST00000260453.3	-	7	1082	c.918A>G	c.(916-918)ttA>ttG	p.L306L	TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	306	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		GCATTTCTTCTAATTTCTGTG	0.289																																						ENST00000260453.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(916-918)ttA>ttG		meiosis-specific nuclear structural 1							89.0	84.0	86.0					15																	56735721		2192	4291	6483	SO:0001819	synonymous_variant	55329				meiosis			g.chr15:56735721T>C	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.918A>G	15.37:g.56735721T>C						TEX9_ENST00000537232.1_Intron|TEX9_ENST00000352903.2_Intron	p.L306L	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	7	1082	-			306			Glu-rich.		Q8IYT6|Q9NUP4	Silent	SNP	ENST00000260453.3	37	c.918A>G	CCDS10158.1																																																																																				0.289	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		19	261	0	0	0	1	0	19	261				
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.P503R(1)	kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1507-1509)cCt>cGt		zinc finger protein 844							81.0	74.0	76.0					19																	12187443		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187443C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1508C>G	19.37:g.12187443C>G	ENSP00000392024:p.Pro503Arg					ZNF844_ENST00000441304.2_3'UTR	p.P503R	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1683	+			503					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1508C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889734	0.33348	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06142	3.34	2.75	-4.15	0.03881	.	.	.	.	.	T	0.07593	0.0191	M	0.76328	2.33	0.25823	N	0.984265	B	0.18741	0.03	B	0.12837	0.008	T	0.38950	-0.9637	9	0.72032	D	0.01	.	4.1302	0.10146	0.2954:0.1754:0.0:0.5292	.	503	Q08AG5	ZN844_HUMAN	R	503	ENSP00000392024:P503R	ENSP00000392024:P503R	P	+	2	0	ZNF844	12048443	0.000000	0.05858	0.005000	0.12908	0.063000	0.16089	-4.308000	0.00255	-0.695000	0.05105	0.411000	0.27672	CCT		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			5	295	0	0	0	1	0	5	295				
NFATC2	4773	broad.mit.edu	37	20	50071192	50071192	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50071192T>C	ENST00000396009.3	-	6	1961	c.1742A>G	c.(1741-1743)gAa>gGa	p.E581G	NFATC2_ENST00000609507.1_Missense_Mutation_p.E362G|NFATC2_ENST00000610033.1_Missense_Mutation_p.E362G|NFATC2_ENST00000414705.1_Missense_Mutation_p.E561G|NFATC2_ENST00000609943.1_Missense_Mutation_p.E561G|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000371564.3_Missense_Mutation_p.E581G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	581					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GTCTTGTCTTTCAACCATGGG	0.507																																						ENST00000371564.3																		EWSR1/NFATC2(9)	0				breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1741-1743)gAa>gGa		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							157.0	154.0	155.0					20																	50071192		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071192T>C	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1742A>G	20.37:g.50071192T>C	ENSP00000379330:p.Glu581Gly					NFATC2_ENST00000396009.3_Missense_Mutation_p.E581G|NFATC2_ENST00000414705.1_Missense_Mutation_p.E561G	p.E581G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1961	-	Hepatocellular(150;0.248)		581					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.1742A>G	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.858558	0.91433	.	.	ENSG00000101096	ENST00000371564;ENST00000396009;ENST00000414705	T;T;T	0.18810	2.19;2.19;2.21	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.50429	0.1615	M	0.80847	2.515	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.85130	0.997;0.975;0.997;0.997	T	0.55535	-0.8126	10	0.87932	D	0	-16.2989	16.1506	0.81618	0.0:0.0:0.0:1.0	.	561;561;581;581	B5B2N9;B5B2P2;Q13469;B5B2N8	.;.;NFAC2_HUMAN;.	G	581;581;561	ENSP00000360619:E581G;ENSP00000379330:E581G;ENSP00000396471:E561G	ENSP00000360619:E581G	E	-	2	0	NFATC2	49504599	1.000000	0.71417	0.803000	0.32268	0.858000	0.48976	7.569000	0.82380	2.206000	0.71126	0.528000	0.53228	GAA		0.507	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		95	912	0	0	0	1	0	95	912				
CYP11B2	1585	broad.mit.edu	37	8	143999078	143999078	+	Missense_Mutation	SNP	C	C	T	rs371296931		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:143999078C>T	ENST00000323110.2	-	1	181	c.179G>A	c.(178-180)gGt>gAt	p.G60D		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	60					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	GTGCTCATAACCCTGCTCCCT	0.632									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(178-180)gGt>gAt		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)						89.0	77.0	81.0					8																	143999078		2203	4300	6503	SO:0001583	missense	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143999078C>T	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.179G>A	8.37:g.143999078C>T	ENSP00000325822:p.Gly60Asp						p.G60D	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			1	181	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		60					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.179G>A	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	10.87	1.471753	0.26423	.	.	ENSG00000179142	ENST00000323110	T	0.69175	-0.38	3.48	3.48	0.39840	.	0.173526	0.26757	U	0.022649	T	0.77942	0.4206	M	0.88842	2.985	0.23845	N	0.996683	P	0.40909	0.732	P	0.49853	0.624	T	0.71500	-0.4574	10	0.49607	T	0.09	.	12.8488	0.57846	0.0:1.0:0.0:0.0	.	60	P19099	C11B2_HUMAN	D	60	ENSP00000325822:G60D	ENSP00000325822:G60D	G	-	2	0	CYP11B2	143996080	0.021000	0.18746	0.039000	0.18376	0.225000	0.24961	3.056000	0.49923	1.950000	0.56595	0.655000	0.94253	GGT		0.632	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			30	285	0	0	0	1	0	30	285				
MYPN	84665	broad.mit.edu	37	10	69933955	69933955	+	Silent	SNP	G	G	A	rs560387426		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:69933955G>A	ENST00000358913.5	+	11	2594	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	MYPN_ENST00000354393.2_Silent_p.A427A|MYPN_ENST00000540630.1_Silent_p.A702A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	702					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CTCCCCCAGCGGTGACAACAT	0.507																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(2104-2106)gcG>gcA		myopalladin							127.0	120.0	122.0					10																	69933955		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69933955G>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2106G>A	10.37:g.69933955G>A						MYPN_ENST00000540630.1_Silent_p.A702A|MYPN_ENST00000354393.2_Silent_p.A427A	p.A702A	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			11	2594	+			702					Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.2106G>A	CCDS7275.1																																																																																				0.507	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		7	400	0	0	0	1	0	7	400				
ZFPM2	23414	broad.mit.edu	37	8	106811110	106811110	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:106811110T>C	ENST00000407775.2	+	7	1148	c.898T>C	c.(898-900)Ttc>Ctc	p.F300L	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F31L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	300					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCTGTGCCCCTTCCCACAGTG	0.498																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(898-900)Ttc>Ctc		zinc finger protein, FOG family member 2							123.0	126.0	125.0					8																	106811110		2027	4204	6231	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106811110T>C	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.898T>C	8.37:g.106811110T>C	ENSP00000384179:p.Phe300Leu					RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.F31L|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.F168L|ZFPM2_ENST00000517361.1_Missense_Mutation_p.F168L|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	p.F300L	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		7	1148	+			300					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.898T>C	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331469	0.81690	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.045624	0.85682	D	0.000000	T	0.60560	0.2278	L	0.41824	1.3	0.58432	D	0.999991	P	0.40144	0.704	B	0.38428	0.273	T	0.61893	-0.6969	10	0.42905	T	0.14	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	300	Q8WW38	FOG2_HUMAN	L	300;168;168;31	ENSP00000384179:F300L;ENSP00000430757:F168L;ENSP00000428720:F168L;ENSP00000367733:F31L	ENSP00000367733:F31L	F	+	1	0	ZFPM2	106880286	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.916000	0.69981	2.323000	0.78572	0.528000	0.53228	TTC		0.498	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			10	760	0	0	0	1	0	10	760				
NNT	23530	broad.mit.edu	37	5	43624207	43624207	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:43624207G>A	ENST00000264663.5	+	6	982	c.761G>A	c.(760-762)cGa>cAa	p.R254Q	NNT_ENST00000512996.2_Missense_Mutation_p.R123Q|NNT_ENST00000344920.4_Missense_Mutation_p.R254Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	254					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GCAATTGTTCGAGGATTTGAC	0.418																																						ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(760-762)cGa>cAa		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						308.0	282.0	291.0					5																	43624207		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43624207G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.761G>A	5.37:g.43624207G>A	ENSP00000264663:p.Arg254Gln					NNT_ENST00000512996.2_Missense_Mutation_p.R123Q|NNT_ENST00000344920.4_Missense_Mutation_p.R254Q	p.R254Q	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			6	982	+	Lung NSC(6;2.58e-06)		254					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.761G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558653	0.86231	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.82433	-1.61;-1.61;-1.61	5.78	4.91	0.64330	Alanine dehydrogenase/pyridine nucleotide transhydrogenase, conserved site-2 (1);Alanine dehydrogenase/PNT, C-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.92639	0.7661	M	0.92026	3.265	0.52099	D	0.999948	D	0.89917	1.0	D	0.97110	1.0	D	0.94117	0.7376	10	0.87932	D	0	-3.6347	14.6884	0.69065	0.0695:0.0:0.9305:0.0	.	254	Q13423	NNTM_HUMAN	Q	254;254;123	ENSP00000264663:R254Q;ENSP00000343873:R254Q;ENSP00000426343:R123Q	ENSP00000264663:R254Q	R	+	2	0	NNT	43659964	1.000000	0.71417	0.988000	0.46212	0.547000	0.35210	9.297000	0.96120	1.448000	0.47680	0.561000	0.74099	CGA		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		89	2205	0	0	0	1	0	89	2205				
LPA	4018	broad.mit.edu	37	6	161027656	161027656	+	Missense_Mutation	SNP	G	G	C	rs373258692		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:161027656G>C	ENST00000316300.5	-	17	2682	c.2638C>G	c.(2638-2640)Cct>Gct	p.P880A	LPA_ENST00000447678.1_Missense_Mutation_p.P880A			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTGCCACAGGATCTGGATTC	0.542																																						ENST00000447678.1																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(2638-2640)Cct>Gct		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)	G	ALA/PRO	1,4219		0,1,2109	125.0	130.0	128.0		2638	0.0	0.0	6	dbSNP_134	128	0,8550		0,0,4275	yes	missense	LPA	NM_005577.2	27	0,1,6384	CC,CG,GG		0.0,0.0237,0.0078	benign	880/2041	161027656	1,12769	2110	4275	6385	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161027656G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.2638C>G	6.37:g.161027656G>C	ENSP00000321334:p.Pro880Ala					LPA_ENST00000316300.5_Missense_Mutation_p.P880A	p.P880A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	18	2758	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	3388			Kringle 8.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.2638C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0.167	-1.075128	0.01903	2.37E-4	0.0	ENSG00000198670	ENST00000316300;ENST00000447678	T;T	0.61627	0.09;0.09	2.18	0.0444	0.14225	Kringle (4);Kringle-like fold (1);Kringle, conserved site (1);	.	.	.	.	T	0.21267	0.0512	N	0.01438	-0.865	0.09310	N	1	D	0.59357	0.985	D	0.73708	0.981	T	0.13469	-1.0508	9	0.19590	T	0.45	.	3.6504	0.08201	0.0:0.5608:0.2644:0.1748	.	3388	P08519	APOA_HUMAN	A	880	ENSP00000321334:P880A;ENSP00000395608:P880A	ENSP00000321334:P880A	P	-	1	0	LPA	160947646	0.035000	0.19736	0.029000	0.17559	0.483000	0.33249	0.096000	0.15147	-0.173000	0.10761	0.184000	0.17185	CCT		0.542	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		8	817	0	0	0	1	0	8	817				
SNX10	29887	broad.mit.edu	37	7	26400616	26400616	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:26400616C>T	ENST00000338523.4	+	3	233	c.46C>T	c.(46-48)Cga>Tga	p.R16*	SNX10_ENST00000396376.1_Nonsense_Mutation_p.R16*|SNX10_ENST00000446848.2_Nonsense_Mutation_p.R42*|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	16	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.		R -> L (in OPTB8). {ECO:0000269|PubMed:23280965}.		cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						TGTCTGGGTTCGAGATCCTAG	0.368																																						ENST00000338523.4																			0				endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						c.(46-48)Cga>Tga		sorting nexin 10							156.0	146.0	149.0					7																	26400616		2203	4300	6503	SO:0001587	stop_gained	29887				cell communication|endosome organization|protein transport	extrinsic to endosome membrane	1-phosphatidylinositol binding	g.chr7:26400616C>T	AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.46C>T	7.37:g.26400616C>T	ENSP00000343709:p.Arg16*					SNX10_ENST00000409367.1_5'UTR|SNX10_ENST00000396376.1_Nonsense_Mutation_p.R16*|SNX10_ENST00000446848.2_Nonsense_Mutation_p.R42*	p.R16*	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN			3	233	+			16			PX.		E9PFH5|Q8IYT5	Nonsense_Mutation	SNP	ENST00000338523.4	37	c.46C>T	CCDS5399.1	.	.	.	.	.	.	.	.	.	.	C	36	5.656872	0.96724	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000412416;ENST00000446848;ENST00000396376	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5459	0.91045	0.0:1.0:0.0:0.0	.	.	.	.	X	42;16;42;42;16	.	ENSP00000343709:R16X	R	+	1	2	SNX10	26367141	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.993000	0.76245	2.459000	0.83118	0.655000	0.94253	CGA		0.368	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214120.1			133	357	0	0	0	1	0	133	357				
TRIM37	4591	broad.mit.edu	37	17	57057995	57057995	+	IGR	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:57057995G>C	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.G624A	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					AGTGGTGCTGGAGAGTTTCCC	0.423									Mulibrey Nanism																													ENST00000308249.2																			0				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33						c.(1870-1872)gGa>gCa		protein phosphatase, Mg2+/Mn2+ dependent, 1E							133.0	134.0	134.0					17																	57057995		2203	4300	6503	SO:0001628	intergenic_variant	22843		Familial Cancer Database	Perheentupa syndrome	protein dephosphorylation	cytoplasm|nucleolus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr17:57057995G>C	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57057995G>C							p.G624A	NM_014906.4	NP_055721.3	Q8WY54	PPM1E_HUMAN	BRCA - Breast invasive adenocarcinoma(1;5.76e-11)		7	2000	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		633					Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	c.1871G>C	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297302	0.23650	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.17691	2.26	5.58	5.58	0.84498	.	0.826265	0.11229	N	0.585811	T	0.11707	0.0285	N	0.19112	0.55	0.27815	N	0.942	B;P	0.40731	0.206;0.728	B;B	0.36092	0.085;0.217	T	0.07888	-1.0749	10	0.46703	T	0.11	-2.8814	10.0884	0.42432	0.1491:0.0:0.8509:0.0	.	633;624	Q8WY54-3;Q8WY54-2	.;.	A	624;475	ENSP00000312411:G624A	ENSP00000312411:G624A	G	+	2	0	PPM1E	54412777	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.518000	0.35877	2.639000	0.89480	0.491000	0.48974	GGA		0.423	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1	NM_015294		5	573	0	0	0	1	0	5	573				
CFTR	1080	broad.mit.edu	37	7	117232055	117232055	+	Missense_Mutation	SNP	A	A	G	rs121908777		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:117232055A>G	ENST00000003084.6	+	14	1966	c.1834A>G	c.(1834-1836)Aaa>Gaa	p.K612E	CFTR_ENST00000454343.1_Missense_Mutation_p.K551E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	612	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	ACATTTAAAGAAAGCTGACAA	0.303									Cystic Fibrosis																													ENST00000003084.6																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69						c.(1834-1836)Aaa>Gaa		cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	Bumetanide(DB00887)|Glibenclamide(DB01016)						47.0	54.0	52.0					7																	117232055		2201	4300	6501	SO:0001583	missense	1080	Cystic Fibrosis	Familial Cancer Database	CF	respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding	g.chr7:117232055A>G	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.1834A>G	7.37:g.117232055A>G	ENSP00000003084:p.Lys612Glu					CFTR_ENST00000454343.1_Missense_Mutation_p.K551E	p.K612E	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	STAD - Stomach adenocarcinoma(10;0.000534)		14	1966	+	Lung NSC(10;0.00148)|all_lung(10;0.00171)		612			ABC transporter 1.		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	c.1834A>G	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.743848	0.49151	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90324	-2.65;-2.65;-2.65	5.48	5.48	0.80851	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.103398	0.64402	D	0.000002	T	0.80909	0.4714	N	0.11284	0.12	0.49213	D	0.999763	B	0.10296	0.003	B	0.08055	0.003	T	0.76005	-0.3117	10	0.12103	T	0.63	-26.229	15.8718	0.79127	1.0:0.0:0.0:0.0	.	612	P13569	CFTR_HUMAN	E	612;551;582	ENSP00000003084:K612E;ENSP00000403677:K551E;ENSP00000389119:K582E	ENSP00000003084:K612E	K	+	1	0	CFTR	117019291	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.274000	0.72587	2.198000	0.70561	0.460000	0.39030	AAA		0.303	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3	NM_000492		5	387	0	0	0	1	0	5	387				
KRTAP26-1	388818	broad.mit.edu	37	21	31692132	31692132	+	Silent	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr21:31692132G>T	ENST00000360542.3	-	1	475	c.222C>A	c.(220-222)ggC>ggA	p.G74G		NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN	keratin associated protein 26-1	74						intermediate filament (GO:0005882)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						TTTCAAGATTGCCGGTCTCAC	0.542																																						ENST00000360542.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(220-222)ggC>ggA		keratin associated protein 26-1							112.0	111.0	111.0					21																	31692132		2203	4300	6503	SO:0001819	synonymous_variant	388818					intermediate filament		g.chr21:31692132G>T	AB096936	CCDS13588.1	21q22.11	2007-11-23			ENSG00000197683	ENSG00000197683		"""Keratin associated proteins"""	33760	protein-coding gene	gene with protein product							Standard	NM_203405		Approved		uc002ynw.3	Q6PEX3	OTTHUMG00000057766	ENST00000360542.3:c.222C>A	21.37:g.31692132G>T							p.G74G	NM_203405.1	NP_981950.1	Q6PEX3	KR261_HUMAN			1	475	-			74					B0RZD3	Silent	SNP	ENST00000360542.3	37	c.222C>A	CCDS13588.1																																																																																				0.542	KRTAP26-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128218.1	NM_203405		11	485	1	0	5.50884e-06	1	5.79973e-06	11	485				
DPY19L2P1	554236	broad.mit.edu	37	7	35131480	35131480	+	RNA	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:35131480A>T	ENST00000436258.1	-	0	1889							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ATCTTCGTAAAGTGGATGATT	0.423																																						ENST00000436258.1																			0																																																			0							g.chr7:35131480A>T	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131480A>T														0	1889	-								B4E2E3	RNA	SNP	ENST00000436258.1	37																																																																																						0.423	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			5	344	0	0	0	1	0	5	344				
ZNF718	255403	broad.mit.edu	37	4	155937	155937	+	lincRNA	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:155937T>C	ENST00000510175.1	+	0	1372							Q3SXZ3	ZN718_HUMAN	zinc finger protein 718						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGGGAGCCTTTAAGTCTTCCT	0.363																																						ENST00000510175.1																			0													zinc finger protein 718							12.0	13.0	13.0					4																	155937		1860	4101	5961			255403				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:155937T>C	AK096662	CCDS75078.1, CCDS75079.1	4p16.3	2011-05-24			ENSG00000250312	ENSG00000250312		"""Zinc fingers, C2H2-type"""	26889	protein-coding gene	gene with protein product							Standard	XM_005278364		Approved	FLJ90036	uc003fzt.4	Q3SXZ3	OTTHUMG00000159873		4.37:g.155937T>C										Q3SXZ3	ZN718_HUMAN		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)	0	1372	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)						Q3SXZ4|Q3SXZ5	RNA	SNP	ENST00000510175.1	37																																																																																						0.363	ZNF718-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000357865.3	NM_001039127		9	58	0	0	0	1	0	9	58				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		7	794	0	0	0	1	0	7	794				
SCN2A	6326	broad.mit.edu	37	2	166201075	166201075	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:166201075T>C	ENST00000375437.2	+	16	2863	c.2573T>C	c.(2572-2574)tTc>tCc	p.F858S	SCN2A_ENST00000375427.2_Missense_Mutation_p.F858S|SCN2A_ENST00000357398.3_Missense_Mutation_p.F858S|SCN2A_ENST00000283256.6_Missense_Mutation_p.F858S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	858					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCGAGTTTTCAAGTTGGCA	0.328																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(2572-2574)tTc>tCc		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						43.0	45.0	44.0					2																	166201075		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166201075T>C	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.2573T>C	2.37:g.166201075T>C	ENSP00000364586:p.Phe858Ser					SCN2A_ENST00000283256.6_Missense_Mutation_p.F858S|SCN2A_ENST00000357398.3_Missense_Mutation_p.F858S|SCN2A_ENST00000375427.2_Missense_Mutation_p.F858S	p.F858S	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			16	2863	+			858					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.2573T>C	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403154	0.83230	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.23	5.23	0.72850	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99393	0.9786	H	0.95645	3.7	0.58432	D	0.999998	D;D	0.76494	0.998;0.999	D;D	0.91635	0.952;0.999	D	0.98537	1.0630	10	0.87932	D	0	.	15.4265	0.75055	0.0:0.0:0.0:1.0	.	858;858	Q99250-2;Q99250	.;SCN2A_HUMAN	S	858	ENSP00000364586:F858S;ENSP00000349973:F858S;ENSP00000283256:F858S;ENSP00000364576:F858S	ENSP00000283256:F858S	F	+	2	0	SCN2A	165909321	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.891000	0.87319	2.105000	0.64084	0.528000	0.53228	TTC		0.328	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		35	219	0	0	0	1	0	35	219				
LILRB4	11006	broad.mit.edu	37	19	55175822	55175822	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:55175822C>T	ENST00000391736.1	+	6	856	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	LILRB4_ENST00000430952.2_Missense_Mutation_p.P181S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P181S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P181S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P181S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	181	Ig-like C2-type 2.				immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GGCTGAATTCCCCATGAGTCC	0.597																																						ENST00000391736.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39						c.(541-543)Ccc>Tcc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4							100.0	91.0	94.0					19																	55175822		2203	4300	6503	SO:0001583	missense	0					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55175822C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.541C>T	19.37:g.55175822C>T	ENSP00000375616:p.Pro181Ser					LILRB4_ENST00000430952.2_Missense_Mutation_p.P181S|LILRB4_ENST00000391733.3_Missense_Mutation_p.P181S|LILRB4_ENST00000391734.3_Missense_Mutation_p.P181S|LILRB4_ENST00000270452.2_Missense_Mutation_p.P181S	p.P181S	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	6	856	+			181			Ig-like C2-type 2.		A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.541C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.452025	0.01080	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.02709	4.19;4.19;4.19;4.19;4.19;4.19	2.63	-4.82	0.03171	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01124	0.0037	N	0.01424	-0.875	0.09310	N	1	P;B;B;B;B	0.40398	0.716;0.189;0.112;0.379;0.051	P;B;B;B;B	0.44732	0.459;0.105;0.087;0.095;0.072	T	0.40079	-0.9582	9	0.15066	T	0.55	.	2.6753	0.05079	0.2919:0.223:0.0:0.4851	.	181;181;181;181;181	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;.;LIRB4_HUMAN	S	181	ENSP00000375616:P181S;ENSP00000270452:P181S;ENSP00000408995:P181S;ENSP00000375614:P181S;ENSP00000375613:P181S;ENSP00000401962:P181S	ENSP00000270452:P181S	P	+	1	0	LILRB4	59867634	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.126000	0.01316	-0.699000	0.05077	0.400000	0.26472	CCC		0.597	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			136	217	0	0	0	1	0	136	217				
TRIM55	84675	broad.mit.edu	37	8	67066340	67066340	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:67066340C>A	ENST00000315962.4	+	9	1668	c.1295C>A	c.(1294-1296)gCa>gAa	p.A432E	TRIM55_ENST00000276573.7_Missense_Mutation_p.A432E|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	432					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCAGTCCCTGCAGCAGCAGAA	0.493																																						ENST00000315962.4																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39						c.(1294-1296)gCa>gAa		tripartite motif containing 55							62.0	58.0	59.0					8																	67066340		2203	4300	6503	SO:0001583	missense	84675					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	g.chr8:67066340C>A	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1295C>A	8.37:g.67066340C>A	ENSP00000323913:p.Ala432Glu					TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.A432E|TRIM55_ENST00000350034.4_Intron	p.A432E	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)		9	1668	+		Lung NSC(129;0.138)|all_lung(136;0.221)	432					B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	37	c.1295C>A	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.001179	0.35320	.	.	ENSG00000147573	ENST00000315962;ENST00000276573	T;T	0.27402	1.68;1.67	5.94	3.06	0.35304	.	0.673119	0.14303	N	0.328184	T	0.23171	0.0560	N	0.19112	0.55	0.48762	D	0.999709	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.03423	-1.1038	10	0.66056	D	0.02	.	14.9043	0.70706	0.3263:0.6737:0.0:0.0	.	432;432	Q9BYV6;Q9BYV6-3	TRI55_HUMAN;.	E	432	ENSP00000323913:A432E;ENSP00000276573:A432E	ENSP00000276573:A432E	A	+	2	0	TRIM55	67228894	0.993000	0.37304	0.839000	0.33178	0.988000	0.76386	1.965000	0.40471	0.366000	0.24427	0.650000	0.86243	GCA		0.493	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085		6	236	1	0	8.12818e-05	1	8.4735e-05	6	236				
CFAP61	26074	broad.mit.edu	37	20	20278839	20278839	+	Silent	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20278839A>G	ENST00000245957.5	+	25	3307	c.3231A>G	c.(3229-3231)gtA>gtG	p.V1077V	C20orf26_ENST00000377309.2_3'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		1077										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TAGAACTAGTAACCGGCAGTG	0.403																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(3229-3231)gtA>gtG		chromosome 20 open reading frame 26							75.0	75.0	75.0					20																	20278839		2203	4300	6503	SO:0001819	synonymous_variant	26074							g.chr20:20278839A>G																												ENST00000245957.5:c.3231A>G	20.37:g.20278839A>G						C20orf26_ENST00000377309.2_3'UTR	p.V1077V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	25	3307	+			1077					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Silent	SNP	ENST00000245957.5	37	c.3231A>G	CCDS33447.1																																																																																				0.403	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			23	379	0	0	0	1	0	23	379				
SLAMF1	6504	broad.mit.edu	37	1	160604452	160604452	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:160604452G>T	ENST00000302035.6	-	3	1000	c.651C>A	c.(649-651)aaC>aaA	p.N217K	SLAMF1_ENST00000235739.5_Missense_Mutation_p.N217K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N217K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N217K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	217	Ig-like C2-type.				lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTGGGAATTGTTGCTGATAG	0.592																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(649-651)aaC>aaA		signaling lymphocytic activation molecule family member 1							157.0	143.0	148.0					1																	160604452		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160604452G>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.651C>A	1.37:g.160604452G>T	ENSP00000306190:p.Asn217Lys					SLAMF1_ENST00000235739.5_Missense_Mutation_p.N217K|SLAMF1_ENST00000538290.1_Missense_Mutation_p.N217K|SLAMF1_ENST00000355199.3_Missense_Mutation_p.N217K	p.N217K	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		3	1000	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		217			Ig-like C2-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.651C>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.391062	0.25118	.	.	ENSG00000117090	ENST00000302035;ENST00000235739;ENST00000538290;ENST00000355199	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	4.24	-0.0738	0.13733	Immunoglobulin-like (1);	0.678357	0.14997	N	0.286354	T	0.15869	0.0382	M	0.87097	2.86	0.09310	N	1	P	0.40144	0.704	B	0.30943	0.122	T	0.18840	-1.0324	10	0.25751	T	0.34	-31.562	0.8118	0.01095	0.2161:0.1732:0.4044:0.2062	.	217	Q13291	SLAF1_HUMAN	K	217	ENSP00000306190:N217K;ENSP00000235739:N217K;ENSP00000438406:N217K;ENSP00000347333:N217K	ENSP00000235739:N217K	N	-	3	2	SLAMF1	158871076	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	0.393000	0.20817	-0.002000	0.14469	-0.284000	0.09977	AAC		0.592	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			8	284	1	0	0.00448238	1	0.00459768	8	284				
TRIOBP	11078	broad.mit.edu	37	22	38120694	38120694	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:38120694C>G	ENST00000406386.3	+	7	2386	c.2131C>G	c.(2131-2133)Cct>Gct	p.P711A		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	711					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AGCCTCCTCTCCTAACAGAAC	0.582																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2131-2133)Cct>Gct		TRIO and F-actin binding protein							169.0	183.0	178.0					22																	38120694		1943	4148	6091	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120694C>G	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2131C>G	22.37:g.38120694C>G	ENSP00000384312:p.Pro711Ala					RP1-37E16.12_ENST00000455236.1_RNA	p.P711A	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2386	+	Melanoma(58;0.0574)		711					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2131C>G	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969543	0.53614	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.22134	1.97	4.79	2.66	0.31614	.	.	.	.	.	T	0.21550	0.0519	M	0.65975	2.015	0.24886	N	0.992199	B	0.26363	0.147	B	0.17979	0.02	T	0.17349	-1.0372	9	0.66056	D	0.02	.	7.4127	0.27025	0.0:0.7964:0.0:0.2036	.	711	Q9H2D6	TARA_HUMAN	A	711	ENSP00000384312:P711A	ENSP00000384312:P711A	P	+	1	0	TRIOBP	36450640	0.612000	0.27000	0.241000	0.24154	0.008000	0.06430	1.240000	0.32731	1.257000	0.44085	0.558000	0.71614	CCT		0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			7	515	0	0	0	1	0	7	515				
SH2D2A	9047	broad.mit.edu	37	1	156777073	156777073	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:156777073T>G	ENST00000368199.3	-	8	1220	c.1067A>C	c.(1066-1068)cAc>cCc	p.H356P	SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P|SH2D2A_ENST00000392306.2_Missense_Mutation_p.H366P	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	356	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGGGGCTGGTGGGGCAGGGG	0.597																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1096-1098)cAc>cCc		SH2 domain containing 2A							16.0	18.0	17.0					1																	156777073		2201	4299	6500	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777073T>G	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1067A>C	1.37:g.156777073T>G	ENSP00000357182:p.His356Pro					SH2D2A_ENST00000368199.3_Missense_Mutation_p.H356P|SH2D2A_ENST00000368198.3_Missense_Mutation_p.H338P	p.H366P	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1236	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		356			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.1097A>C	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687372	0.14973	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.57107	0.45;0.42;0.87	4.24	1.63	0.23807	.	2.261830	0.01799	N	0.032797	T	0.21761	0.0524	L	0.27053	0.805	0.09310	N	1	P;B;B	0.35982	0.531;0.396;0.396	B;B;B	0.37833	0.259;0.133;0.094	T	0.18650	-1.0330	10	0.49607	T	0.09	-4.3545	4.3832	0.11304	0.2016:0.0:0.2094:0.5889	.	366;338;356	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	P	356;338;366	ENSP00000357182:H356P;ENSP00000357181:H338P;ENSP00000376123:H366P	ENSP00000357181:H338P	H	-	2	0	SH2D2A	155043697	0.049000	0.20398	0.024000	0.17045	0.664000	0.39144	0.065000	0.14466	0.745000	0.32763	0.374000	0.22700	CAC		0.597	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		6	37	0	0	0	1	0	6	37				
UBE3C	9690	broad.mit.edu	37	7	156963025	156963025	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:156963025C>G	ENST00000348165.5	+	4	583	c.223C>G	c.(223-225)Cgc>Ggc	p.R75G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R32G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	75					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCATTTGATCGCTGTGCTAC	0.388																																						ENST00000348165.5																			0				central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63						c.(223-225)Cgc>Ggc		ubiquitin protein ligase E3C							151.0	149.0	150.0					7																	156963025		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156963025C>G	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.223C>G	7.37:g.156963025C>G	ENSP00000309198:p.Arg75Gly					UBE3C_ENST00000389103.4_Missense_Mutation_p.R32G	p.R75G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	4	583	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	75					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.223C>G	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867596	0.51588	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.44482	0.92	4.82	4.82	0.62117	.	0.819753	0.11357	N	0.572285	T	0.28830	0.0715	N	0.14661	0.345	0.35965	D	0.834878	B;B;B	0.28820	0.062;0.127;0.224	B;B;B	0.31869	0.017;0.085;0.137	T	0.25572	-1.0128	10	0.25751	T	0.34	.	11.4221	0.49987	0.0:0.9171:0.0:0.0829	.	75;75;32	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	G	75;32	ENSP00000309198:R75G	ENSP00000309198:R75G	R	+	1	0	UBE3C	156655786	1.000000	0.71417	0.897000	0.35233	0.940000	0.58332	3.205000	0.51090	2.219000	0.72066	0.650000	0.86243	CGC		0.388	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671		461	392	0	0	0	1	0	461	392				
OCRL	4952	broad.mit.edu	37	X	128721077	128721077	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:128721077C>T	ENST00000371113.4	+	20	2403	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	OCRL_ENST00000357121.5_Silent_p.F738F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	746	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						ATCACCTATTCAAATACGCCT	0.468																																						ENST00000371113.4																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						c.(2236-2238)ttC>ttT		oculocerebrorenal syndrome of Lowe							142.0	128.0	133.0					X																	128721077		2203	4300	6503	SO:0001819	synonymous_variant	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128721077C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2238C>T	X.37:g.128721077C>T						OCRL_ENST00000357121.5_Silent_p.F738F	p.F746F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN			20	2403	+			746			Rho-GAP.		A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	ENST00000371113.4	37	c.2238C>T	CCDS35393.1																																																																																				0.468	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		8	509	0	0	0	1	0	8	509				
SMG6	23293	broad.mit.edu	37	17	2195869	2195869	+	Silent	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:2195869A>G	ENST00000263073.6	-	6	2364	c.2314T>C	c.(2314-2316)Ttg>Ctg	p.L772L	SMG6_ENST00000544865.1_Silent_p.L741L	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	772					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGCAAAGCCAACTGGTTATAG	0.438																																					Melanoma(59;28 1088 11621 25887 46638 50814)	ENST00000544865.1																			0				NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2221-2223)Ttg>Ctg		SMG6 nonsense mediated mRNA decay factor							125.0	131.0	129.0					17																	2195869		2203	4300	6503	SO:0001819	synonymous_variant	23293				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding	g.chr17:2195869A>G	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2314T>C	17.37:g.2195869A>G						SMG6_ENST00000263073.5_Silent_p.L772L	p.L741L			Q86US8	EST1A_HUMAN			6	2731	-			772					B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	ENST00000263073.6	37	c.2221T>C	CCDS11016.1																																																																																				0.438	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3			8	785	0	0	0	1	0	8	785				
PRPF38B	55119	broad.mit.edu	37	1	109242415	109242415	+	Silent	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:109242415C>A	ENST00000370025.4	+	6	1683	c.1414C>A	c.(1414-1416)Cga>Aga	p.R472R	PRPF38B_ENST00000370021.1_Silent_p.R361R	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	472					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		TAAACGAAGTCGAAGTGGCAG	0.353																																						ENST00000370021.1																			0				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(1081-1083)Cga>Aga		pre-mRNA processing factor 38B							96.0	96.0	96.0					1																	109242415		2203	4300	6503	SO:0001819	synonymous_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109242415C>A	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.1414C>A	1.37:g.109242415C>A						PRPF38B_ENST00000370025.4_Silent_p.R472R	p.R361R			Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	7	1718	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	472			Arg-rich.		Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Silent	SNP	ENST00000370025.4	37	c.1081C>A	CCDS788.1																																																																																				0.353	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		42	432	1	0	3.54561e-26	1	4.02508e-26	42	432				
CCDC146	57639	broad.mit.edu	37	7	76885756	76885756	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:76885756C>G	ENST00000285871.4	+	6	741	c.614C>G	c.(613-615)tCt>tGt	p.S205C	CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	205										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GATTTGGCATCTAAACAAAAG	0.318																																						ENST00000285871.4																			0				breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34						c.(613-615)tCt>tGt		coiled-coil domain containing 146							64.0	63.0	63.0					7																	76885756		2203	4299	6502	SO:0001583	missense	57639							g.chr7:76885756C>G	BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.614C>G	7.37:g.76885756C>G	ENSP00000285871:p.Ser205Cys					AC073635.5_ENST00000476561.2_RNA|CCDC146_ENST00000431197.1_5'UTR	p.S205C	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN			6	741	+		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)	205					A8K8X6|Q9P223	Missense_Mutation	SNP	ENST00000285871.4	37	c.614C>G	CCDS34671.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.895049	0.52121	.	.	ENSG00000135205	ENST00000285871	D	0.85013	-1.93	5.95	-1.76	0.08006	.	0.906597	0.09568	N	0.784502	D	0.85327	0.5671	L	0.54323	1.7	0.09310	N	0.999999	D	0.76494	0.999	P	0.58970	0.849	T	0.73808	-0.3866	10	0.59425	D	0.04	1.3152	3.8391	0.08906	0.097:0.4296:0.0952:0.3782	.	205	Q8IYE0	CC146_HUMAN	C	205	ENSP00000285871:S205C	ENSP00000285871:S205C	S	+	2	0	AC007000.1	76723692	0.000000	0.05858	0.003000	0.11579	0.937000	0.57800	0.721000	0.25911	-0.068000	0.12953	-0.253000	0.11424	TCT		0.318	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1	NM_020879		6	268	0	0	0	1	0	6	268				
NKG7	4818	broad.mit.edu	37	19	51875040	51875040	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:51875040T>A	ENST00000221978.5	-	4	668	c.489A>T	c.(487-489)gaA>gaT	p.E163D	CLDND2_ENST00000291715.1_5'Flank|CLDND2_ENST00000601435.1_5'Flank|NKG7_ENST00000600427.1_Missense_Mutation_p.E83D|NKG7_ENST00000595217.1_3'UTR	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell granule protein 7	163						integral component of plasma membrane (GO:0005887)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCACAAGGTTTCATAGCCAG	0.582																																						ENST00000221978.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						c.(487-489)gaA>gaT		natural killer cell group 7 sequence							152.0	173.0	166.0					19																	51875040		2203	4300	6503	SO:0001583	missense	4818					integral to plasma membrane		g.chr19:51875040T>A		CCDS12830.1	19q13.41	2014-03-07	2014-03-07		ENSG00000105374	ENSG00000105374			7830	protein-coding gene	gene with protein product	"""granule membrane protein 17"""	606008	"""natural killer cell group 7 sequence"""			8458737	Standard	NM_005601		Approved	GIG1, GMP-17	uc002pwj.3	Q16617	OTTHUMG00000182898	ENST00000221978.5:c.489A>T	19.37:g.51875040T>A	ENSP00000221978:p.Glu163Asp					NKG7_ENST00000595217.1_3'UTR|NKG7_ENST00000600427.1_Missense_Mutation_p.E83D	p.E163D	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	4	668	-		all_neural(266;0.0199)	163						Missense_Mutation	SNP	ENST00000221978.5	37	c.489A>T	CCDS12830.1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858826	0.71834	.	.	ENSG00000105374	ENST00000221978	.	.	.	5.17	-4.48	0.03515	.	0.929502	0.08893	N	0.878340	T	0.15739	0.0379	N	0.17082	0.46	0.09310	N	1	B	0.14438	0.01	B	0.14578	0.011	T	0.24404	-1.0161	9	0.30078	T	0.28	-0.01	1.6474	0.02764	0.1181:0.2407:0.3352:0.306	.	163	Q16617	NKG7_HUMAN	D	163	.	ENSP00000221978:E163D	E	-	3	2	NKG7	56566852	0.000000	0.05858	0.006000	0.13384	0.653000	0.38743	-2.978000	0.00664	-0.251000	0.09542	0.397000	0.26171	GAA		0.582	NKG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464260.2	NM_005601		87	1095	0	0	0	1	0	87	1095				
WDR70	55100	broad.mit.edu	37	5	37725121	37725121	+	Silent	SNP	G	G	A	rs373785223		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:37725121G>A	ENST00000265107.4	+	16	1839	c.1683G>A	c.(1681-1683)tcG>tcA	p.S561S		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	561							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCTGAAGTCGCATAAACCTG	0.527																																						ENST00000265107.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(1681-1683)tcG>tcA		WD repeat domain 70		G		1,4405	2.1+/-5.4	0,1,2202	114.0	111.0	112.0		1683	-7.6	0.7	5		112	0,8600		0,0,4300	no	coding-synonymous	WDR70	NM_018034.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		561/655	37725121	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37725121G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1683G>A	5.37:g.37725121G>A							p.S561S	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		16	1839	+	all_lung(31;0.000285)		561					Q9H053	Silent	SNP	ENST00000265107.4	37	c.1683G>A	CCDS34147.1																																																																																				0.527	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		7	676	0	0	0	1	0	7	676				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	761	0	0	0	1	0	5	761				
OR1A2	26189	broad.mit.edu	37	17	3101038	3101038	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:3101038G>A	ENST00000381951.1	+	1	226	c.226G>A	c.(226-228)Gta>Ata	p.V76I		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	76					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V76I(1)		breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						CTTCTCATCCGTAACCATCCC	0.488																																						ENST00000381951.1																			1	Substitution - Missense(1)	p.V76I(1)	endometrium(1)	breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						c.(226-228)Gta>Ata		olfactory receptor, family 1, subfamily A, member 2							220.0	186.0	198.0					17																	3101038		2203	4300	6503	SO:0001583	missense	26189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3101038G>A	AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.226G>A	17.37:g.3101038G>A	ENSP00000371377:p.Val76Ile						p.V76I	NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN			1	226	+			76					Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	c.226G>A	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	G	8.290	0.817419	0.16607	.	.	ENSG00000172150	ENST00000381951	T	0.00475	7.16	4.09	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44902	D	0.000419	T	0.00412	0.0013	L	0.58810	1.83	0.09310	N	0.999998	D	0.54964	0.969	B	0.38264	0.269	T	0.54675	-0.8258	10	0.87932	D	0	.	8.4274	0.32737	0.196:0.0:0.804:0.0	.	76	Q9Y585	OR1A2_HUMAN	I	76	ENSP00000371377:V76I	ENSP00000371377:V76I	V	+	1	0	OR1A2	3047788	0.000000	0.05858	0.899000	0.35326	0.007000	0.05969	0.476000	0.22180	1.071000	0.40834	-0.199000	0.12753	GTA		0.488	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352		8	780	0	0	0	1	0	8	780				
LRP1B	53353	broad.mit.edu	37	2	141298554	141298554	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:141298554T>G	ENST00000389484.3	-	45	8472	c.7501A>C	c.(7501-7503)Aac>Cac	p.N2501H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2501	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACACATCTGTTGTCCTCTAGC	0.398										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(7501-7503)Aac>Cac		low density lipoprotein receptor-related protein 1B							163.0	150.0	154.0					2																	141298554		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141298554T>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.7501A>C	2.37:g.141298554T>G	ENSP00000374135:p.Asn2501His	TSP Lung(27;0.18)					p.N2501H	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	45	8472	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	2501					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.7501A>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505660	0.64410	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.90324	-2.65	5.93	5.93	0.95920	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	D	0.93520	0.7932	L	0.52759	1.655	0.53005	D	0.999969	D	0.89917	1.0	D	0.77004	0.989	D	0.92566	0.6062	10	0.34782	T	0.22	.	16.3798	0.83452	0.0:0.0:0.0:1.0	.	2501	Q9NZR2	LRP1B_HUMAN	H	2501;2439	ENSP00000374135:N2501H	ENSP00000374135:N2501H	N	-	1	0	LRP1B	141015024	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.029000	0.64121	2.271000	0.75665	0.533000	0.62120	AAC		0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		42	346	0	0	0	1	0	42	346				
SHISA3	152573	broad.mit.edu	37	4	42403193	42403193	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:42403193A>C	ENST00000319234.4	+	2	660	c.442A>C	c.(442-444)Atg>Ctg	p.M148L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	148					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GACCCTGCCCATGATCCTGAC	0.607																																						ENST00000319234.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						c.(442-444)Atg>Ctg		shisa family member 3							146.0	156.0	153.0					4																	42403193		2203	4300	6503	SO:0001583	missense	152573				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		g.chr4:42403193A>C	BC012029	CCDS33979.1	4p13	2013-07-31	2013-07-31		ENSG00000178343	ENSG00000178343		"""Shisa homologs"""	25159	protein-coding gene	gene with protein product			"""shisa homolog 3 (Xenopus laevis)"""				Standard	NM_001080505		Approved	hShisa3	uc003gwp.3	A0PJX4	OTTHUMG00000161043	ENST00000319234.4:c.442A>C	4.37:g.42403193A>C	ENSP00000326445:p.Met148Leu						p.M148L	NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN			2	660	+			148					A0PJX3|Q96EQ5	Missense_Mutation	SNP	ENST00000319234.4	37	c.442A>C	CCDS33979.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.816342	0.90790	.	.	ENSG00000178343	ENST00000319234	T	0.39787	1.06	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.65498	2.005	0.80722	D	1	P	0.44309	0.832	D	0.64042	0.921	T	0.54497	-0.8285	10	0.20519	T	0.43	-25.9018	14.8086	0.69977	1.0:0.0:0.0:0.0	.	148	A0PJX4	SHSA3_HUMAN	L	148	ENSP00000326445:M148L	ENSP00000326445:M148L	M	+	1	0	SHISA3	42097950	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.100000	0.94213	2.174000	0.68829	0.533000	0.62120	ATG		0.607	SHISA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363539.1	NM_001080505		8	1331	0	0	0	1	0	8	1331				
CNDP1	84735	broad.mit.edu	37	18	72228134	72228134	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:72228134C>A	ENST00000358821.3	+	4	575	c.347C>A	c.(346-348)gCc>gAc	p.A116D	CNDP1_ENST00000585136.1_Intron|RP11-231E4.3_ENST00000583702.1_RNA|CNDP1_ENST00000582365.1_Missense_Mutation_p.A73D	NM_032649.5	NP_116038	Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	116						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|tripeptidase activity (GO:0034701)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		ATCATCCTGGCCGAACTGGGG	0.547																																					Melanoma(32;1029 1042 25286 38395 44237)	ENST00000582365.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(217-219)gCc>gAc		carnosine dipeptidase 1 (metallopeptidase M20 family)							136.0	137.0	137.0					18																	72228134		2203	4300	6503	SO:0001583	missense	84735				proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	g.chr18:72228134C>A		CCDS12007.1	18q22.3	2014-07-14			ENSG00000150656	ENSG00000150656	3.4.13.20		20675	protein-coding gene	gene with protein product	"""carnosinase 1"", ""glutamate carboxypeptidase-like protein 2"""	609064				12473676	Standard	NM_032649		Approved	MGC10825, CN1, CPGL2, HsT2308	uc002llq.3	Q96KN2	OTTHUMG00000132852	ENST00000358821.3:c.347C>A	18.37:g.72228134C>A	ENSP00000351682:p.Ala116Asp					CNDP1_ENST00000358821.3_Missense_Mutation_p.A116D|CNDP1_ENST00000585136.1_Intron	p.A73D			Q96KN2	CNDP1_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.109)	3	284	+		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)	116					Q14D40|Q17S05|Q2TBG0|Q6UWK2|Q9BT98	Missense_Mutation	SNP	ENST00000358821.3	37	c.218C>A	CCDS12007.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154667	0.57259	.	.	ENSG00000150656	ENST00000358821	T	0.12569	2.67	5.11	5.11	0.69529	.	0.055184	0.64402	D	0.000001	T	0.43389	0.1245	M	0.88512	2.96	0.58432	D	0.999993	D	0.89917	1.0	D	0.70016	0.967	T	0.51826	-0.8656	10	0.87932	D	0	-20.9769	14.9137	0.70778	0.0:0.8562:0.1438:0.0	.	116	Q96KN2	CNDP1_HUMAN	D	116	ENSP00000351682:A116D	ENSP00000351682:A116D	A	+	2	0	CNDP1	70379114	0.713000	0.27926	0.941000	0.38009	0.394000	0.30568	1.378000	0.34328	2.384000	0.81235	0.655000	0.94253	GCC		0.547	CNDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256326.1	NM_032649		9	545	1	0	2.80697e-09	1	3.02508e-09	9	545				
ITCH	83737	broad.mit.edu	37	20	33045269	33045269	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:33045269A>G	ENST00000262650.6	+	14	1544	c.1408A>G	c.(1408-1410)Aga>Gga	p.R470G	ITCH-IT1_ENST00000418598.1_RNA|ITCH_ENST00000374864.4_Missense_Mutation_p.R429G|ITCH_ENST00000535650.1_Missense_Mutation_p.R319G|ITCH_ENST00000483727.1_3'UTR			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	470	Required for interaction with FYN.|WW 3. {ECO:0000255|PROSITE- ProRule:PRU00224}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GGAAGACCCCAGAAGTCAAGG	0.388																																						ENST00000374864.4																			0				NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1285-1287)Aga>Gga		itchy E3 ubiquitin protein ligase							72.0	64.0	67.0					20																	33045269		2203	4300	6503	SO:0001583	missense	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33045269A>G	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1408A>G	20.37:g.33045269A>G	ENSP00000262650:p.Arg470Gly					ITCH_ENST00000262650.6_Missense_Mutation_p.R470G|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Missense_Mutation_p.R319G	p.R429G	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN			13	1498	+			470			Required for interaction with FYN.		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	ENST00000262650.6	37	c.1285A>G	CCDS58768.1	.	.	.	.	.	.	.	.	.	.	A	19.11	3.763702	0.69878	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.41400	1.0;1.0;1.35	5.73	0.423	0.16463	WW/Rsp5/WWP (4);	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.92923	3.36	0.58432	D	0.999999	D;D;D	0.89917	0.967;1.0;0.999	D;D;D	0.72075	0.916;0.964;0.976	T	0.77435	-0.2589	10	0.87932	D	0	.	14.4212	0.67185	0.4708:0.5292:0.0:0.0	.	381;470;429	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	G	429;319;470	ENSP00000363998:R429G;ENSP00000445608:R319G;ENSP00000262650:R470G	ENSP00000262650:R470G	R	+	1	2	ITCH	32508930	0.988000	0.35896	0.998000	0.56505	0.992000	0.81027	2.913000	0.48790	0.082000	0.17018	0.482000	0.46254	AGA		0.388	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2			10	207	0	0	0	1	0	10	207				
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S	CTD-2201G16.1_ENST00000557368.1_RNA|MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662													C|||	3	0.000599042	0.0023	0.0	5008	,	,		18907	0.0		0.0	False		,,,				2504	0.0					ENST00000355349.3																			3	Substitution - coding silent(3)	p.S1335S(3)	central_nervous_system(2)|lung(1)	NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(4003-4005)tcG>tcA		myosin, heavy chain 7, cardiac muscle, beta		C		9,4397	15.5+/-35.6	0,9,2194	35.0	34.0	34.0		4005	-9.9	0.2	14	dbSNP_134	34	0,8600		0,0,4300	no	coding-synonymous	MYH7	NM_000257.2		0,9,6494	TT,TC,CC		0.0,0.2043,0.0692		1335/1936	23887583	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887583C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4005G>A	14.37:g.23887583C>T							p.S1335S	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4167	-	all_cancers(95;2.54e-05)		1335					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	c.4005G>A	CCDS9601.1																																																																																				0.662	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		14	198	0	0	0	1	0	14	198				
FLG2	388698	broad.mit.edu	37	1	152330000	152330000	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:152330000C>T	ENST00000388718.5	-	3	334	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	88					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCTGAGGACCTTGTTGCAG	0.438																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(262-264)Gtc>Atc		filaggrin family member 2							101.0	89.0	93.0					1																	152330000		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152330000C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.262G>A	1.37:g.152330000C>T	ENSP00000373370:p.Val88Ile					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.V88I	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	334	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		88					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.262G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.817773	0.50633	.	.	ENSG00000143520	ENST00000388718	T	0.13538	2.58	5.62	3.57	0.40892	EF-hand-like domain (1);	.	.	.	.	T	0.01287	0.0042	N	0.00500	-1.43	0.23501	N	0.997542	P	0.43094	0.799	B	0.39258	0.295	T	0.18461	-1.0336	9	0.44086	T	0.13	-9.9816	7.9266	0.29878	0.1694:0.7401:0.0:0.0905	.	88	Q5D862	FILA2_HUMAN	I	88	ENSP00000373370:V88I	ENSP00000373370:V88I	V	-	1	0	FLG2	150596624	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-0.215000	0.09279	1.390000	0.46547	0.557000	0.71058	GTC		0.438	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		93	77	0	0	0	1	0	93	77				
HIVEP1	3096	broad.mit.edu	37	6	12124753	12124753	+	Silent	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:12124753T>C	ENST00000379388.2	+	4	5057	c.4725T>C	c.(4723-4725)tcT>tcC	p.S1575S	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1575					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGCTCTTCTAATCCTGTGC	0.383																																						ENST00000379388.2																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90						c.(4723-4725)tcT>tcC		human immunodeficiency virus type I enhancer binding protein 1							142.0	137.0	139.0					6																	12124753		1934	4125	6059	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124753T>C	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4725T>C	6.37:g.12124753T>C							p.S1575S	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN			4	5057	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1575					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4725T>C	CCDS43426.1																																																																																				0.383	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		31	483	0	0	0	1	0	31	483				
HSPA12B	116835	broad.mit.edu	37	20	3721480	3721480	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:3721480C>T	ENST00000254963.2	+	3	207	c.62C>T	c.(61-63)tCc>tTc	p.S21F	HSPA12B_ENST00000542646.1_Intron	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	21							ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						CCGGAGCGGTCCCCAGTGCCT	0.662																																						ENST00000254963.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						c.(61-63)tCc>tTc		heat shock 70kD protein 12B							44.0	42.0	43.0					20																	3721480		2203	4300	6503	SO:0001583	missense	116835						ATP binding	g.chr20:3721480C>T	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.62C>T	20.37:g.3721480C>T	ENSP00000254963:p.Ser21Phe					HSPA12B_ENST00000542646.1_Intron	p.S21F	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN			3	207	+			21					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.62C>T	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.073242	0.55646	.	.	ENSG00000132622	ENST00000254963	T	0.03663	3.85	4.3	4.3	0.51218	.	.	.	.	.	T	0.05318	0.0141	L	0.44542	1.39	0.22581	N	0.998963	B;B	0.33135	0.399;0.399	B;B	0.34242	0.178;0.178	T	0.26815	-1.0092	9	0.52906	T	0.07	.	12.4781	0.55825	0.0:1.0:0.0:0.0	.	21;21	B7ZLP2;Q96MM6	.;HS12B_HUMAN	F	21	ENSP00000254963:S21F	ENSP00000254963:S21F	S	+	2	0	HSPA12B	3669480	0.987000	0.35691	0.952000	0.39060	0.885000	0.51271	3.800000	0.55537	2.402000	0.81655	0.655000	0.94253	TCC		0.662	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		13	115	0	0	0	1	0	13	115				
SIGIRR	59307	broad.mit.edu	37	11	408737	408737	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:408737G>A	ENST00000431843.2	-	3	470	c.164C>T	c.(163-165)cCa>cTa	p.P55L	SIGIRR_ENST00000332725.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000382520.2_Missense_Mutation_p.P55L|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P55L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000529486.1_Intron	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	55	Ig-like C2-type.				acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATTCCCAATGGAAGCCCGTC	0.607																																						ENST00000431843.2																			0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(163-165)cCa>cTa		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain							103.0	109.0	107.0					11																	408737		2203	4297	6500	SO:0001583	missense	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:408737G>A		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.164C>T	11.37:g.408737G>A	ENSP00000403104:p.Pro55Leu					SIGIRR_ENST00000382520.2_Missense_Mutation_p.P55L|SIGIRR_ENST00000332725.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000397632.3_Missense_Mutation_p.P55L|SIGIRR_ENST00000531205.1_Missense_Mutation_p.P55L|SIGIRR_ENST00000529486.1_Intron	p.P55L	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	470	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	55			Ig-like C2-type.		Q3KQY2|Q6UXI3|Q9H733	Missense_Mutation	SNP	ENST00000431843.2	37	c.164C>T	CCDS31325.1	.	.	.	.	.	.	.	.	.	.	g	2.581	-0.297431	0.05532	.	.	ENSG00000185187	ENST00000431843;ENST00000397632;ENST00000332725;ENST00000531205;ENST00000382520;ENST00000530494	T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	2.65	0.661	0.17874	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.138550	0.06670	N	0.766117	T	0.49372	0.1553	L	0.31752	0.955	0.22156	N	0.999324	B;B	0.10296	0.003;0.002	B;B	0.08055	0.003;0.002	T	0.25984	-1.0116	10	0.23891	T	0.37	.	3.6481	0.08192	0.281:0.278:0.441:0.0	.	55;55	C9JFX4;Q6IA17	.;SIGIR_HUMAN	L	55	ENSP00000403104:P55L;ENSP00000380756:P55L;ENSP00000333656:P55L;ENSP00000433022:P55L;ENSP00000371960:P55L;ENSP00000434030:P55L	ENSP00000333656:P55L	P	-	2	0	SIGIRR	398737	0.000000	0.05858	0.063000	0.19743	0.027000	0.11550	0.243000	0.18106	0.173000	0.19788	0.305000	0.20034	CCA		0.607	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	NM_021805		220	703	0	0	0	1	0	220	703				
APOB	338	broad.mit.edu	37	2	21234788	21234788	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:21234788C>T	ENST00000233242.1	-	26	5079	c.4952G>A	c.(4951-4953)gGa>gAa	p.G1651E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1651					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTAGATATTCCATCTTGGCC	0.448																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(4951-4953)gGa>gAa		apolipoprotein B	Atorvastatin(DB01076)						100.0	94.0	96.0					2																	21234788		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234788C>T	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4952G>A	2.37:g.21234788C>T	ENSP00000233242:p.Gly1651Glu						p.G1651E	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	5079	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1651					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.4952G>A	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	13.21	2.168988	0.38315	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01495	4.83	5.97	5.09	0.68999	.	0.208944	0.33092	N	0.005298	T	0.08846	0.0219	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.02282	-1.1183	10	0.72032	D	0.01	.	17.3372	0.87285	0.0:0.8749:0.1251:0.0	.	1651	P04114	APOB_HUMAN	E	1651	ENSP00000233242:G1651E	ENSP00000233242:G1651E	G	-	2	0	APOB	21088293	1.000000	0.71417	0.148000	0.22405	0.017000	0.09413	7.770000	0.85390	1.524000	0.49035	-0.172000	0.13284	GGA		0.448	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			9	217	0	0	0	1	0	9	217				
NEIL3	55247	broad.mit.edu	37	4	178257339	178257339	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:178257339G>T	ENST00000264596.3	+	4	609	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	164					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		AGTTTCTTGAGAGCAGAAAGT	0.358								Base excision repair (BER), DNA glycosylases																														ENST00000264596.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						c.(490-492)aGa>aTa	Base excision repair (BER), DNA glycosylases	nei endonuclease VIII-like 3 (E. coli)							116.0	121.0	119.0					4																	178257339		2203	4300	6503	SO:0001583	missense	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178257339G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.491G>T	4.37:g.178257339G>T	ENSP00000264596:p.Arg164Ile						p.R164I	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	4	609	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	164					Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	ENST00000264596.3	37	c.491G>T	CCDS3828.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092638	0.56075	.	.	ENSG00000109674	ENST00000264596	T	0.13778	2.56	4.93	4.93	0.64822	Ribosomal protein S13-like, H2TH (1);	0.049744	0.85682	D	0.000000	T	0.42291	0.1196	M	0.85630	2.765	0.80722	D	1	D	0.71674	0.998	D	0.69654	0.965	T	0.42189	-0.9466	10	0.59425	D	0.04	-15.3264	17.6857	0.88255	0.0:0.0:1.0:0.0	.	164	Q8TAT5	NEIL3_HUMAN	I	164	ENSP00000264596:R164I	ENSP00000264596:R164I	R	+	2	0	NEIL3	178494333	1.000000	0.71417	0.991000	0.47740	0.253000	0.25986	7.160000	0.77495	2.713000	0.92767	0.655000	0.94253	AGA		0.358	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		7	277	1	0	0.27861	1	0.27861	7	277				
PRSS3P2	154754	broad.mit.edu	37	7	142482242	142482242	+	RNA	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:142482242G>A	ENST00000603901.1	+	0	622					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GGTCTGCAATGGACAGCTTCA	0.493																																						ENST00000603901.1																			0																																																			0							g.chr7:142482242G>A			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142482242G>A								NR_001296.3						0	622	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.493	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		5	80	0	0	0	1	0	5	80				
SALL4	57167	broad.mit.edu	37	20	50406795	50406795	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:50406795G>T	ENST00000217086.4	-	2	2338	c.2227C>A	c.(2227-2229)Ctg>Atg	p.L743M	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	743					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGCGCTGCAGGTTAAAAGGG	0.587																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2227-2229)Ctg>Atg		spalt-like transcription factor 4							52.0	46.0	48.0					20																	50406795		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50406795G>T	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2227C>A	20.37:g.50406795G>T	ENSP00000217086:p.Leu743Met					SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	p.L743M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	2338	-			743					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.2227C>A	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358272	0.24598	.	.	ENSG00000101115	ENST00000217086	T	0.10960	2.82	5.67	4.73	0.59995	.	0.000000	0.34603	N	0.003835	T	0.28896	0.0717	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.01679	-1.1297	10	0.41790	T	0.15	-24.4419	8.8224	0.35034	0.2743:0.0:0.7257:0.0	.	743	Q9UJQ4	SALL4_HUMAN	M	743	ENSP00000217086:L743M	ENSP00000217086:L743M	L	-	1	2	SALL4	49840202	1.000000	0.71417	0.994000	0.49952	0.256000	0.26092	1.782000	0.38654	1.387000	0.46486	0.655000	0.94253	CTG		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			6	249	1	0	0.0215528	1	0.0220363	6	249				
ACVR1C	130399	broad.mit.edu	37	2	158397669	158397669	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:158397669G>T	ENST00000243349.8	-	7	1518	c.1158C>A	c.(1156-1158)ttC>ttA	p.F386L	ACVR1C_ENST00000335450.7_Missense_Mutation_p.F306L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.F336L|ACVR1C_ENST00000348328.5_Missense_Mutation_p.F229L	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CAGCTCGTTTGAAGGACTCAA	0.378																																						ENST00000243349.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						c.(1156-1158)ttC>ttA		activin A receptor, type IC							143.0	145.0	144.0					2																	158397669		2203	4300	6503	SO:0001583	missense	130399				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	g.chr2:158397669G>T	BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1158C>A	2.37:g.158397669G>T	ENSP00000243349:p.Phe386Leu					ACVR1C_ENST00000348328.5_Missense_Mutation_p.F229L|ACVR1C_ENST00000409680.3_Missense_Mutation_p.F336L|ACVR1C_ENST00000335450.7_Missense_Mutation_p.F306L	p.F386L	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN			7	1518	-			386			Protein kinase.			Missense_Mutation	SNP	ENST00000243349.8	37	c.1158C>A	CCDS2205.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.947748	0.73787	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18	5.3	3.47	0.39725	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000044	D	0.95014	0.8386	L	0.58101	1.795	0.58432	D	0.999991	D;D;D	0.69078	0.973;0.968;0.997	P;P;D	0.74674	0.873;0.589;0.984	D	0.94916	0.8069	10	0.87932	D	0	.	11.2611	0.49083	0.2097:0.0:0.7903:0.0	.	229;306;386	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	L	386;336;229;306	ENSP00000243349:F386L;ENSP00000387168:F336L;ENSP00000335139:F229L;ENSP00000335178:F306L	ENSP00000243349:F386L	F	-	3	2	ACVR1C	158105915	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.737000	0.47393	1.368000	0.46115	-0.218000	0.12543	TTC		0.378	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		19	435	1	0	1.40151e-16	1	1.54166e-16	19	435				
DMBX1	127343	broad.mit.edu	37	1	46977796	46977796	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:46977796C>A	ENST00000360032.3	+	4	778	c.764C>A	c.(763-765)cCg>cAg	p.P255Q	DMBX1_ENST00000371956.4_Missense_Mutation_p.P260Q	NM_172225.1	NP_757379.1			diencephalon/mesencephalon homeobox 1											endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TCCTCGTCCCCGCTGAGCCTC	0.642																																						ENST00000371956.4																			0				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(778-780)cCg>cAg		diencephalon/mesencephalon homeobox 1							79.0	82.0	81.0					1																	46977796		2203	4300	6503	SO:0001583	missense	127343				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:46977796C>A	AB037699	CCDS536.1	1p34.1	2011-06-20	2004-03-29	2004-03-30	ENSG00000197587	ENSG00000197587		"""Homeoboxes / PRD class"""	19026	protein-coding gene	gene with protein product		607410	"""orthodenticle homolog 3 (Drosophila)"""	OTX3			Standard	NM_147192		Approved	PAXB	uc001cpx.3	Q8NFW5	OTTHUMG00000007982	ENST00000360032.3:c.764C>A	1.37:g.46977796C>A	ENSP00000353132:p.Pro255Gln					DMBX1_ENST00000360032.3_Missense_Mutation_p.P255Q	p.P260Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN			4	794	+	Acute lymphoblastic leukemia(166;0.155)		260						Missense_Mutation	SNP	ENST00000360032.3	37	c.779C>A	CCDS536.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335890	0.81801	.	.	ENSG00000197587	ENST00000371956;ENST00000360032	D;D	0.99032	-4.1;-5.35	5.02	4.11	0.48088	.	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99501	1.0953	10	0.66056	D	0.02	.	12.8074	0.57622	0.0:0.9202:0.0:0.0798	.	260;255	Q8NFW5;Q8NFW5-2	DMBX1_HUMAN;.	Q	260;255	ENSP00000361024:P260Q;ENSP00000353132:P255Q	ENSP00000353132:P255Q	P	+	2	0	DMBX1	46750383	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.706000	0.84615	1.253000	0.44018	0.655000	0.94253	CCG		0.642	DMBX1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021895.1			8	653	1	0	5.18039e-06	1	5.49018e-06	8	653				
CLEC12B	387837	broad.mit.edu	37	12	10167245	10167245	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:10167245A>G	ENST00000338896.5	+	3	442	c.314A>G	c.(313-315)gAg>gGg	p.E105G	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000396502.1_Missense_Mutation_p.E105G|CLEC1B_ENST00000428126.2_5'Flank	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	105						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TTGTCCATGGAGGAGGAATTT	0.433																																						ENST00000396502.1																			0				central_nervous_system(2)|large_intestine(2)|lung(5)	9						c.(313-315)gAg>gGg		C-type lectin domain family 12, member B							101.0	94.0	96.0					12																	10167245		2203	4300	6503	SO:0001583	missense	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167245A>G	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.314A>G	12.37:g.10167245A>G	ENSP00000344563:p.Glu105Gly					CLEC12B_ENST00000338896.5_Missense_Mutation_p.E105G	p.E105G	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN			3	442	+			105					Q6UWF2|Q6ZRG0	Missense_Mutation	SNP	ENST00000338896.5	37	c.314A>G	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	A	8.230	0.804408	0.16467	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	T;T	0.56941	0.43;0.43	4.13	2.97	0.34412	C-type lectin fold (1);Ly49-like N-terminal (1);	0.733388	0.11989	N	0.510077	T	0.51126	0.1656	M	0.76328	2.33	0.09310	N	1	B;B	0.19073	0.01;0.033	B;B	0.17433	0.007;0.018	T	0.50906	-0.8772	10	0.72032	D	0.01	.	6.8471	0.23994	0.8876:0.0:0.1124:0.0	.	105;105	Q2HXU8;Q2HXU8-2	CL12B_HUMAN;.	G	105	ENSP00000379759:E105G;ENSP00000344563:E105G	ENSP00000344563:E105G	E	+	2	0	CLEC12B	10058512	0.765000	0.28485	0.007000	0.13788	0.360000	0.29518	1.306000	0.33505	0.707000	0.31934	0.379000	0.24179	GAG		0.433	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		31	176	0	0	0	1	0	31	176				
TOR4A	54863	broad.mit.edu	37	9	140173477	140173477	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:140173477C>T	ENST00000357503.2	+	2	532	c.336C>T	c.(334-336)cgC>cgT	p.R112R		NM_017723.2	NP_060193.2	Q9NXH8	TOR4A_HUMAN	torsin family 4, member A	112					chaperone mediated protein folding requiring cofactor (GO:0051085)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)										ATCGGCCGCGCGTGGAGCACA	0.667																																						ENST00000357503.2																			0											c.(334-336)cgC>cgT		torsin family 4, member A							14.0	12.0	13.0					9																	140173477		2196	4294	6490	SO:0001819	synonymous_variant	54863				chaperone mediated protein folding requiring cofactor	integral to membrane	ATP binding|nucleoside-triphosphatase activity	g.chr9:140173477C>T	AK023361	CCDS7041.1	9q34.3	2012-04-03	2012-04-03	2012-04-03	ENSG00000198113	ENSG00000198113			25981	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 167"""	C9orf167			Standard	NM_017723		Approved	FLJ20245	uc004cmn.3	Q9NXH8	OTTHUMG00000131779	ENST00000357503.2:c.336C>T	9.37:g.140173477C>T							p.R112R	NM_017723.2	NP_060193.2	Q9NXH8	CI167_HUMAN			2	532	+			112					A2BFA4	Silent	SNP	ENST00000357503.2	37	c.336C>T	CCDS7041.1																																																																																				0.667	TOR4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254711.1	NM_017723		4	52	0	0	0	1	0	4	52				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|SNORD51_ENST00000384320.2_RNA|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000440274.1_5'Flank	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		7	311	0	0	0	1	0	7	311				
SDE2	163859	broad.mit.edu	37	1	226175604	226175604	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:226175604C>T	ENST00000272091.7	-	6	1145	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	376																	TACTGCGTTTCCTGGCTGGCT	0.443																																						ENST00000272091.7																			0											c.(1126-1128)gGa>gAa		SDE2 telomere maintenance homolog (S. pombe)							135.0	131.0	132.0					1																	226175604		1946	4151	6097	SO:0001583	missense	163859							g.chr1:226175604C>T	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.1127G>A	1.37:g.226175604C>T	ENSP00000272091:p.Gly376Glu					SDE2_ENST00000366817.1_Missense_Mutation_p.G281E	p.G376E	NM_152608.3	NP_689821.3					6	1145	-								A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.1127G>A	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	C	7.553	0.663036	0.14710	.	.	ENSG00000143751	ENST00000272091;ENST00000366818;ENST00000366817	T;T	0.46819	0.91;0.86	6.05	4.16	0.48862	.	0.465506	0.23310	N	0.049578	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	B;P	0.37122	0.023;0.583	B;B	0.29942	0.016;0.109	T	0.10019	-1.0648	10	0.12766	T	0.61	-14.6206	6.3303	0.21266	0.0:0.5114:0.3529:0.1357	.	364;376	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	E	376;364;281	ENSP00000272091:G376E;ENSP00000355782:G281E	ENSP00000272091:G376E	G	-	2	0	C1orf55	224242227	0.000000	0.05858	0.296000	0.24974	0.016000	0.09150	-0.272000	0.08560	1.539000	0.49286	0.650000	0.86243	GGA		0.443	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	NM_152608		27	265	0	0	0	1	0	27	265				
CUL1	8454	broad.mit.edu	37	7	148457556	148457556	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:148457556C>G	ENST00000325222.4	+	7	1036	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	CUL1_ENST00000409469.1_Missense_Mutation_p.Q253E|CUL1_ENST00000602748.1_Missense_Mutation_p.Q253E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	253					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGAATTCTTGCAGCAGAACCC	0.343																																						ENST00000325222.4																			0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40						c.(757-759)Cag>Gag		cullin 1							112.0	127.0	122.0					7																	148457556		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148457556C>G	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.757C>G	7.37:g.148457556C>G	ENSP00000326804:p.Gln253Glu					CUL1_ENST00000602748.1_Missense_Mutation_p.Q253E|CUL1_ENST00000409469.1_Missense_Mutation_p.Q253E	p.Q253E	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		7	1036	+	Melanoma(164;0.15)		253					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.757C>G	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508051	0.44558	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.29655	1.56;1.56	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	N	0.20610	0.595	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.04991	-1.0913	10	0.18276	T	0.48	-0.61	17.2933	0.87163	0.0:1.0:0.0:0.0	.	253	Q13616	CUL1_HUMAN	E	253;253;211;180	ENSP00000387160:Q253E;ENSP00000326804:Q253E	ENSP00000326804:Q253E	Q	+	1	0	CUL1	148088489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.452000	0.66638	2.377000	0.81083	0.585000	0.79938	CAG		0.343	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		7	1273	0	0	0	1	0	7	1273				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			8	183	0	0	0	1	0	8	183				
RANBP3	8498	broad.mit.edu	37	19	5923907	5923907	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:5923907C>T	ENST00000340578.6	-	12	1072	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	RANBP3_ENST00000439268.2_Missense_Mutation_p.E334K|RANBP3_ENST00000591092.1_Missense_Mutation_p.E266K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E271K|RANBP3_ENST00000541471.1_Missense_Mutation_p.E211K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	339					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GAACTGACCTCGTTTAATTTT	0.562																																						ENST00000340578.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						c.(1015-1017)Gag>Aag		RAN binding protein 3							58.0	63.0	62.0					19																	5923907		2104	4239	6343	SO:0001583	missense	8498				intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding	g.chr19:5923907C>T	Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.1015G>A	19.37:g.5923907C>T	ENSP00000341483:p.Glu339Lys					RANBP3_ENST00000541471.1_Missense_Mutation_p.E211K|RANBP3_ENST00000034275.8_Missense_Mutation_p.E271K|RANBP3_ENST00000439268.2_Missense_Mutation_p.E334K|RANBP3_ENST00000591092.1_Missense_Mutation_p.E266K	p.E339K	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN			12	1072	-			339					B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	ENST00000340578.6	37	c.1015G>A	CCDS42478.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.223330	0.79464	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.34667	1.36;1.35;2.11;1.38	5.73	4.7	0.59300	.	0.308175	0.34338	N	0.004045	T	0.49575	0.1565	L	0.61036	1.89	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;0.997;0.998;1.0;0.999	P;P;P;P;P;D;P	0.66351	0.88;0.879;0.738;0.738;0.866;0.943;0.879	T	0.49133	-0.8971	10	0.08179	T	0.78	-28.738	12.5931	0.56453	0.0:0.9196:0.0:0.0804	.	211;334;211;266;271;334;339	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	K	339;334;271;270;211	ENSP00000341483:E339K;ENSP00000404837:E334K;ENSP00000034275:E271K;ENSP00000445071:E211K	ENSP00000034275:E271K	E	-	1	0	RANBP3	5874907	1.000000	0.71417	0.042000	0.18584	0.905000	0.53344	6.864000	0.75494	1.437000	0.47472	0.563000	0.77884	GAG		0.562	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452304.1	NM_007322		36	230	0	0	0	1	0	36	230				
ABHD3	171586	broad.mit.edu	37	18	19283559	19283559	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr18:19283559C>T	ENST00000289119.2	-	2	451	c.312G>A	c.(310-312)ccG>ccA	p.P104P	ABHD3_ENST00000580981.1_Silent_p.P104P|ABHD3_ENST00000579875.1_5'UTR|ABHD3_ENST00000578270.1_5'UTR	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN	abhydrolase domain containing 3	104						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						TGTACTGCACCGGGGGCTTCG	0.483																																						ENST00000289119.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						c.(310-312)ccG>ccA		abhydrolase domain containing 3							86.0	77.0	80.0					18																	19283559		2203	4300	6503	SO:0001819	synonymous_variant	171586					integral to membrane	carboxylesterase activity	g.chr18:19283559C>T	AK024880	CCDS32802.1	18q11.1	2011-02-16			ENSG00000158201	ENSG00000158201		"""Abhydrolase domain containing"""	18718	protein-coding gene	gene with protein product		612197					Standard	NM_138340		Approved	LABH3	uc002ktl.2	Q8WU67		ENST00000289119.2:c.312G>A	18.37:g.19283559C>T						ABHD3_ENST00000580981.1_Silent_p.P104P|ABHD3_ENST00000578270.1_5'UTR|ABHD3_ENST00000579875.1_5'UTR	p.P104P	NM_138340.4	NP_612213.2	Q8WU67	ABHD3_HUMAN			2	451	-			104					B0YIV0|B7Z5C2|O43411	Silent	SNP	ENST00000289119.2	37	c.312G>A	CCDS32802.1																																																																																				0.483	ABHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444757.1			229	186	0	0	0	1	0	229	186				
ITPR1	3708	broad.mit.edu	37	3	4735395	4735395	+	Silent	SNP	C	C	T	rs375223250		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:4735395C>T	ENST00000443694.2	+	30	4206	c.4206C>T	c.(4204-4206)cgC>cgT	p.R1402R	ITPR1_ENST00000423119.2_Silent_p.R1408R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R1417R|ITPR1_ENST00000302640.8_Silent_p.R1402R|ITPR1_ENST00000357086.4_Silent_p.R1408R|ITPR1_ENST00000456211.2_Silent_p.R1393R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1417					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACATCGTTCGCGTGGTGACCC	0.592																																						ENST00000354582.6																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(4249-4251)cgC>cgT		inositol 1,4,5-trisphosphate receptor, type 1		C	,,	1,4389		0,1,2194	49.0	56.0	53.0		4224,4206,4179	-8.7	0.8	3		53	0,8592		0,0,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	,,	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	,,	1408/2711,1402/2744,1393/2696	4735395	1,12981	2195	4296	6491	SO:0001819	synonymous_variant	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4735395C>T	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.4206C>T	3.37:g.4735395C>T						ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.R1393R|ITPR1_ENST00000443694.2_Silent_p.R1402R|ITPR1_ENST00000423119.2_Silent_p.R1408R|ITPR1_ENST00000357086.4_Silent_p.R1408R|ITPR1_ENST00000302640.8_Silent_p.R1402R	p.R1417R			Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	33	4601	+			1417					E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	ENST00000443694.2	37	c.4251C>T	CCDS54551.1																																																																																				0.592	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		10	81	0	0	0	1	0	10	81				
TIGD5	84948	broad.mit.edu	37	8	144681772	144681772	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:144681772G>A	ENST00000504548.2	+	1	1699	c.1699G>A	c.(1699-1701)Gcc>Acc	p.A567T	EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A518T|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000395119.3_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	567						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCTGCCCTCTGCCATGGGGGG	0.726																																						ENST00000504548.2																			0				NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7						c.(1699-1701)Gcc>Acc		tigger transposable element derived 5							7.0	8.0	8.0					8																	144681772		2099	4205	6304	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681772G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1699G>A	8.37:g.144681772G>A	ENSP00000421489:p.Ala567Thr					TIGD5_ENST00000321385.3_Missense_Mutation_p.A518T	p.A567T	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1699	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		567					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1699G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	0.324	-0.960373	0.02267	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.30981	1.51;1.52	3.82	0.594	0.17485	.	3.015890	0.01945	U	0.042235	T	0.17662	0.0424	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.12863	-1.0531	10	0.16420	T	0.52	.	4.5839	0.12273	0.3537:0.1617:0.4847:0.0	.	518	Q53EQ6	TIGD5_HUMAN	T	567;518	ENSP00000421489:A567T;ENSP00000315906:A518T	ENSP00000315906:A518T	A	+	1	0	TIGD5	144752915	0.001000	0.12720	0.001000	0.08648	0.311000	0.27955	0.772000	0.26647	-0.017000	0.14103	0.650000	0.86243	GCC		0.726	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		16	30	0	0	0	1	0	16	30				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			10	223	0	0	0	1	0	10	223				
ACTL7B	10880	broad.mit.edu	37	9	111618120	111618120	+	Missense_Mutation	SNP	G	G	A	rs377288822		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:111618120G>A	ENST00000374667.3	-	1	1119	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	31						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCTGTGTCCCGGAGGCTGGCG	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(91-93)Cgg>Tgg		actin-like 7B		G	TRP/ARG	0,4406		0,0,2203	67.0	69.0	68.0		91	2.0	0.0	9		68	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACTL7B	NM_006686.3	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	31/416	111618120	1,13005	2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111618120G>A	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.91C>T	9.37:g.111618120G>A	ENSP00000363799:p.Arg31Trp						p.R31W	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1119	-			31					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.91C>T	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	G	6.192	0.403558	0.11754	0.0	1.16E-4	ENSG00000148156	ENST00000374667	D	0.95171	-3.63	4.13	2.0	0.26442	.	4.079830	0.01076	U	0.004909	D	0.89248	0.6661	N	0.08118	0	0.09310	N	1	D	0.61697	0.99	P	0.44597	0.454	D	0.83697	0.0180	10	0.87932	D	0	.	8.2052	0.31452	0.0:0.0:0.532:0.468	.	31	Q9Y614	ACL7B_HUMAN	W	31	ENSP00000363799:R31W	ENSP00000363799:R31W	R	-	1	2	ACTL7B	110657941	0.000000	0.05858	0.024000	0.17045	0.097000	0.18754	0.268000	0.18571	0.915000	0.36847	0.655000	0.94253	CGG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		6	343	0	0	0	1	0	6	343				
LRRC37A2	474170	broad.mit.edu	37	17	44594556	44594556	+	Intron	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:44594556G>A	ENST00000576629.1	+	3	3104				ARL17A_ENST00000329240.4_Silent_p.C101C|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000337845.7_Missense_Mutation_p.A190V|LRRC37A2_ENST00000333412.3_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2							integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CGGTGACCCCGCATAATTTCT	0.413																																						ENST00000337845.7																			0				lung(1)	1						c.(568-570)gCg>gTg		ADP-ribosylation factor-like 17A																																				SO:0001627	intron_variant	51326				protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding	g.chr17:44594556G>A	AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.2610-172G>A	17.37:g.44594556G>A						LRRC37A2_ENST00000333412.3_Intron|LRRC37A2_ENST00000576629.1_Intron|ARL17A_ENST00000445552.2_Silent_p.C101C|ARL17A_ENST00000329240.4_Silent_p.C101C	p.A190V			Q8IVW1	ARL17_HUMAN			5	707	-			0					B7ZMC3	Missense_Mutation	SNP	ENST00000576629.1	37	c.569C>T	CCDS42353.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.396455|1.396455	0.25205|0.25205	.|.	.|.	ENSG00000185829|ENSG00000185829	ENST00000337845|ENST00000358484	T|.	0.62639|.	0.01|.	2.51|2.51	0.0229|0.0229	0.14135|0.14135	.|.	.|.	.|.	.|.	.|.	T|T	0.37865|0.37865	0.1019|0.1019	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.38607|0.38607	-0.9653|-0.9653	6|5	0.87932|0.87932	D|D	0|0	.|.	4.7532|4.7532	0.13071|0.13071	0.6779:0.0:0.3221:0.0|0.6779:0.0:0.3221:0.0	.|.	.|.	.|.	.|.	V|W	190|125	ENSP00000338611:A190V|.	ENSP00000338611:A190V|ENSP00000351272:R125W	A|R	-|-	2|1	0|2	ARL17A|ARL17A	41949872|41949872	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.040000|0.040000	0.13550|0.13550	-0.566000|-0.566000	0.05922|0.05922	-0.011000|-0.011000	0.14247|0.14247	0.175000|0.175000	0.17021|0.17021	GCG|CGG		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440299.2	NM_001006607		7	774	0	0	0	1	0	7	774				
SLC35G5	83650	broad.mit.edu	37	8	11189622	11189622	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:11189622T>A	ENST00000382435.4	+	1	1226	c.1007T>A	c.(1006-1008)gTg>gAg	p.V336E		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	336						integral component of membrane (GO:0016021)											ACAGGGAAGGTGGAGGAGTGA	0.483																																						ENST00000382435.4																			0											c.(1006-1008)gTg>gAg		solute carrier family 35, member G5							50.0	53.0	52.0					8																	11189622		2203	4300	6503	SO:0001583	missense	83650					integral to membrane		g.chr8:11189622T>A	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.1007T>A	8.37:g.11189622T>A	ENSP00000371872:p.Val336Glu						p.V336E	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1226	+			336					A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.1007T>A	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	6.405	0.442757	0.12164	.	.	ENSG00000177710	ENST00000382435	T	0.35048	1.33	.	.	.	.	1.312980	0.05800	N	0.611920	T	0.22627	0.0546	L	0.36672	1.1	0.23653	N	0.997196	B	0.02656	0.0	B	0.04013	0.001	T	0.23261	-1.0193	8	0.05436	T	0.98	0.2747	.	.	.	.	336	Q96KT7	S35G5_HUMAN	E	336	ENSP00000371872:V336E	ENSP00000371872:V336E	V	+	2	0	SLC35G5	11227032	0.421000	0.25465	0.263000	0.24496	0.264000	0.26372	0.069000	0.14552	0.056000	0.16144	0.055000	0.15244	GTG		0.483	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		76	194	0	0	0	1	0	76	194				
OR4N5	390437	broad.mit.edu	37	14	20612452	20612452	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:20612452G>A	ENST00000333629.1	+	1	558	c.558G>A	c.(556-558)aaG>aaA	p.K186K	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		AGGTCATCAAGCTGGCCTGCA	0.522																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(556-558)aaG>aaA		olfactory receptor, family 4, subfamily N, member 5							111.0	94.0	99.0					14																	20612452		2203	4300	6503	SO:0001819	synonymous_variant	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612452G>A		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.558G>A	14.37:g.20612452G>A							p.K186K	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	558	+	all_cancers(95;0.00108)		186					Q6IF11	Silent	SNP	ENST00000333629.1	37	c.558G>A	CCDS32031.1																																																																																				0.522	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			252	168	0	0	0	1	0	252	168				
PPP1R13B	23368	broad.mit.edu	37	14	104245101	104245101	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:104245101T>C	ENST00000202556.9	-	4	617	c.335A>G	c.(334-336)gAa>gGa	p.E112G		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	112				E -> D (in Ref. 1; CAC83011). {ECO:0000305}.	intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGTACGTTTTTCTCCAGGTAC	0.388																																						ENST00000202556.9																			0				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33						c.(334-336)gAa>gGa		protein phosphatase 1, regulatory subunit 13B							171.0	159.0	163.0					14																	104245101		1842	4099	5941	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104245101T>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.335A>G	14.37:g.104245101T>C	ENSP00000202556:p.Glu112Gly						p.E112G	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN			4	617	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	112	E -> D (in Ref. 1; CAC83011).				B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.335A>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	T	17.58	3.424553	0.62733	.	.	ENSG00000088808	ENST00000202556;ENST00000555734;ENST00000553739	D;T	0.86230	-2.09;1.59	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000003	T	0.80433	0.4622	N	0.24115	0.695	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.76702	-0.2862	10	0.87932	D	0	.	14.4774	0.67557	0.0:0.0:0.0:1.0	.	112	Q96KQ4	ASPP1_HUMAN	G	112;109;141	ENSP00000202556:E112G;ENSP00000452376:E109G	ENSP00000202556:E112G	E	-	2	0	PPP1R13B	103314854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.975000	0.70475	2.291000	0.77112	0.533000	0.62120	GAA		0.388	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		37	298	0	0	0	1	0	37	298				
PPIF	10105	broad.mit.edu	37	10	81111297	81111297	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr10:81111297C>T	ENST00000225174.3	+	4	441	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	PPIF_ENST00000394579.3_Missense_Mutation_p.R124C	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	peptidylprolyl isomerase F	124	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic mitochondrial changes (GO:0008637)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ATPase activity (GO:0032780)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of oxidative phosphorylation uncoupler activity (GO:2000276)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein folding (GO:0006457)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of necrotic cell death (GO:0010939)|regulation of proton-transporting ATPase activity, rotational mechanism (GO:0010849)|response to ischemia (GO:0002931)	membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Cyclosporine(DB00091)|L-Proline(DB00172)	CTACGGAAGCCGCTTTCCTGA	0.607																																						ENST00000225174.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(370-372)Cgc>Tgc		peptidylprolyl isomerase F	Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)						87.0	67.0	74.0					10																	81111297		2203	4300	6503	SO:0001583	missense	10105				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity	g.chr10:81111297C>T	M80254	CCDS7358.1	10q22-q23	2008-10-24	2008-10-24		ENSG00000108179	ENSG00000108179	5.2.1.8		9259	protein-coding gene	gene with protein product	"""cyclophilin D"""	604486	"""peptidylprolyl isomerase F (cyclophilin F)"""			1744118	Standard	NM_005729		Approved	hCyP3, Cyp-D	uc001kai.3	P30405	OTTHUMG00000018562	ENST00000225174.3:c.370C>T	10.37:g.81111297C>T	ENSP00000225174:p.Arg124Cys					PPIF_ENST00000394579.3_Missense_Mutation_p.R124C	p.R124C	NM_005729.3	NP_005720.1	P30405	PPIF_HUMAN	Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		4	441	+	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		124			PPIase cyclophilin-type.		Q2YDB7|Q5W131	Missense_Mutation	SNP	ENST00000225174.3	37	c.370C>T	CCDS7358.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.779750	0.90195	.	.	ENSG00000108179	ENST00000394579;ENST00000225174	T;T	0.44083	0.93;0.93	5.74	5.74	0.90152	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.116753	0.64402	D	0.000010	T	0.67316	0.2880	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.73380	0.98;0.916	T	0.70059	-0.4976	10	0.87932	D	0	-34.3876	18.6855	0.91562	0.0:1.0:0.0:0.0	.	124;124	Q2YDB7;P30405	.;PPIF_HUMAN	C	124	ENSP00000378080:R124C;ENSP00000225174:R124C	ENSP00000225174:R124C	R	+	1	0	PPIF	80781303	0.563000	0.26594	1.000000	0.80357	0.975000	0.68041	2.997000	0.49457	2.700000	0.92200	0.655000	0.94253	CGC		0.607	PPIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048949.1	NM_005729		54	92	0	0	0	1	0	54	92				
LRMP	4033	broad.mit.edu	37	12	25232196	25232196	+	Missense_Mutation	SNP	G	G	A	rs143325687		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:25232196G>A	ENST00000354454.3	+	6	872	c.43G>A	c.(43-45)Gtg>Atg	p.V15M	LRMP_ENST00000547044.1_Missense_Mutation_p.V15M|LRMP_ENST00000548766.1_Missense_Mutation_p.V15M	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	71					immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					TGTTGAACGCGTGTGTCCTGA	0.373													G|||	1	0.000199681	0.0	0.0	5008	,	,		19720	0.0		0.001	False		,,,				2504	0.0					ENST00000354454.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19						c.(43-45)Gtg>Atg		lymphoid-restricted membrane protein		G	MET/VAL,MET/VAL,MET/VAL	1,4405	2.1+/-5.4	0,1,2202	296.0	267.0	277.0		43,43,43	-0.6	0.0	12	dbSNP_134	277	0,8600		0,0,4300	no	missense,missense,missense	LRMP	NM_001204126.1,NM_001204127.1,NM_006152.3	21,21,21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	15/500,15/500,15/500	25232196	1,13005	2203	4300	6503	SO:0001583	missense	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25232196G>A		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000354454.3:c.43G>A	12.37:g.25232196G>A	ENSP00000346442:p.Val15Met					LRMP_ENST00000548766.1_Missense_Mutation_p.V15M|LRMP_ENST00000547044.1_Missense_Mutation_p.V15M	p.V15M	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN			6	872	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		71					A0AVM2|B4E077|Q8N301	Missense_Mutation	SNP	ENST00000354454.3	37	c.43G>A	CCDS8701.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.433	0.849166	0.17034	2.27E-4	0.0	ENSG00000118308	ENST00000550945;ENST00000557489;ENST00000354454;ENST00000548766;ENST00000554942;ENST00000547044	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	4.82	-0.595	0.11660	.	1.506210	0.04099	N	0.312629	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.12156	0.007	T	0.34104	-0.9842	10	0.42905	T	0.14	1.1135	7.0543	0.25091	0.1448:0.0:0.4851:0.3702	.	71	Q12912	LRMP_HUMAN	M	15	ENSP00000448534:V15M;ENSP00000452116:V15M;ENSP00000346442:V15M;ENSP00000446496:V15M;ENSP00000450634:V15M;ENSP00000450246:V15M	ENSP00000346442:V15M	V	+	1	0	LRMP	25123463	0.000000	0.05858	0.000000	0.03702	0.501000	0.33797	-0.007000	0.12810	-0.166000	0.10890	-1.105000	0.02106	GTG		0.373	LRMP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407870.1	NM_006152		48	398	0	0	0	1	0	48	398				
OR10R2	343406	broad.mit.edu	37	1	158449944	158449944	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:158449944T>C	ENST00000368152.1	+	1	277	c.277T>C	c.(277-279)Tac>Cac	p.Y93H	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGAGACCTTCTACACCTTTGT	0.438																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(277-279)Tac>Cac		olfactory receptor, family 10, subfamily R, member 2							307.0	262.0	278.0					1																	158449944		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449944T>C	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.277T>C	1.37:g.158449944T>C	ENSP00000357134:p.Tyr93His					RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.Y93H	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	277	+	all_hematologic(112;0.0378)		93					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.277T>C	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	t	16.21	3.059013	0.55325	.	.	ENSG00000198965	ENST00000368152	T	0.00397	7.57	4.28	4.28	0.50868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00552	0.0018	M	0.86420	2.815	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.36625	-0.9740	9	0.87932	D	0	.	12.5259	0.56085	0.0:0.0:0.0:1.0	.	93	Q8NGX6	O10R2_HUMAN	H	93	ENSP00000357134:Y93H	ENSP00000357134:Y93H	Y	+	1	0	OR10R2	156716568	0.013000	0.17824	0.984000	0.44739	0.994000	0.84299	1.537000	0.36083	1.762000	0.52044	0.533000	0.62120	TAC		0.438	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472		69	608	0	0	0	1	0	69	608				
MUC16	94025	broad.mit.edu	37	19	9085442	9085442	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:9085442C>A	ENST00000397910.4	-	1	6576	c.6373G>T	c.(6373-6375)Gca>Tca	p.A2125S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2125	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACCGAGGATGCATCAGTGTTC	0.488																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(6373-6375)Gca>Tca		mucin 16, cell surface associated							114.0	111.0	112.0					19																	9085442		1933	4133	6066	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9085442C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.6373G>T	19.37:g.9085442C>A	ENSP00000381008:p.Ala2125Ser						p.A2125S	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	6576	-			2125			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.6373G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.609	-0.291225	0.05568	.	.	ENSG00000181143	ENST00000397910	T	0.02631	4.22	0.235	0.235	0.15431	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.55605	0.972	P	0.59948	0.866	T	0.45833	-0.9234	7	0.87932	D	0	.	.	.	.	.	2125	B5ME49	.	S	2125	ENSP00000381008:A2125S	ENSP00000381008:A2125S	A	-	1	0	MUC16	8946442	0.005000	0.15991	0.074000	0.20217	0.075000	0.17131	-0.052000	0.11865	0.308000	0.22923	0.313000	0.20887	GCA		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		193	377	1	0	4.54062e-68	1	5.24804e-68	193	377				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	7	42	0	0	0	1	0	7	42				
TM9SF2	9375	broad.mit.edu	37	13	100169875	100169875	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr13:100169875T>C	ENST00000376387.4	+	2	369	c.179T>C	c.(178-180)aTa>aCa	p.I60T	TM9SF2_ENST00000463709.1_3'UTR	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN	transmembrane 9 superfamily member 2	60					transport (GO:0006810)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					CAGGCCGAAATAGAACTATTT	0.313																																						ENST00000376387.4																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17						c.(178-180)aTa>aCa		transmembrane 9 superfamily member 2							91.0	87.0	88.0					13																	100169875		2203	4296	6499	SO:0001583	missense	9375				transport	endosome membrane|integral to plasma membrane		g.chr13:100169875T>C	U81006	CCDS9493.1	13q32.2	2011-03-28			ENSG00000125304	ENSG00000125304			11865	protein-coding gene	gene with protein product		604678				9729438	Standard	NM_004800		Approved	P76	uc001voj.2	Q99805	OTTHUMG00000017272	ENST00000376387.4:c.179T>C	13.37:g.100169875T>C	ENSP00000365567:p.Ile60Thr					TM9SF2_ENST00000463709.1_3'UTR	p.I60T	NM_004800.1	NP_004791.1	Q99805	TM9S2_HUMAN			2	369	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)		60					A8K399|Q2TAY5	Missense_Mutation	SNP	ENST00000376387.4	37	c.179T>C	CCDS9493.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.241564	0.79912	.	.	ENSG00000125304	ENST00000376387	T	0.49432	0.78	6.06	6.06	0.98353	.	0.039037	0.85682	D	0.000000	T	0.69070	0.3070	M	0.84773	2.715	0.80722	D	1	D;P	0.56287	0.975;0.914	P;P	0.58210	0.835;0.641	T	0.74771	-0.3552	10	0.87932	D	0	-24.6443	16.2708	0.82618	0.0:0.0:0.0:1.0	.	60;60	E9PHW5;Q99805	.;TM9S2_HUMAN	T	60	ENSP00000365567:I60T	ENSP00000365567:I60T	I	+	2	0	TM9SF2	98967876	1.000000	0.71417	0.996000	0.52242	0.941000	0.58515	6.305000	0.72805	2.324000	0.78689	0.533000	0.62120	ATA		0.313	TM9SF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045602.3			5	284	0	0	0	1	0	5	284				
HERC1	8925	broad.mit.edu	37	15	63915945	63915945	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:63915945G>A	ENST00000443617.2	-	73	13677	c.13590C>T	c.(13588-13590)gaC>gaT	p.D4530D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4530	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGTGATGGTGTCATCAAACA	0.512																																						ENST00000443617.2																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(13588-13590)gaC>gaT		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1							122.0	123.0	123.0					15																	63915945		2067	4227	6294	SO:0001819	synonymous_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63915945G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.13590C>T	15.37:g.63915945G>A							p.D4530D	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN			73	13677	-			4530			HECT.		Q8IW65	Silent	SNP	ENST00000443617.2	37	c.13590C>T	CCDS45277.1																																																																																				0.512	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		9	747	0	0	0	1	0	9	747				
ACTL7B	10880	broad.mit.edu	37	9	111617958	111617958	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:111617958C>T	ENST00000374667.3	-	1	1281	c.253G>A	c.(253-255)Gag>Aag	p.E85K		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	85						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCGGCCGCCTCGGGGCAGCGT	0.652																																						ENST00000374667.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(253-255)Gag>Aag		actin-like 7B							73.0	75.0	74.0					9																	111617958		2203	4300	6503	SO:0001583	missense	10880					actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton	g.chr9:111617958C>T	BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.253G>A	9.37:g.111617958C>T	ENSP00000363799:p.Glu85Lys						p.E85K	NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN			1	1281	-			85					B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	c.253G>A	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206026	0.22205	.	.	ENSG00000148156	ENST00000374667	D	0.97066	-4.23	4.27	3.35	0.38373	.	1.816400	0.03688	U	0.246632	D	0.93439	0.7907	N	0.19112	0.55	0.18873	N	0.999982	P	0.35328	0.495	B	0.29598	0.104	D	0.87186	0.2231	10	0.87932	D	0	.	10.6347	0.45558	0.0:0.6202:0.3798:0.0	.	85	Q9Y614	ACL7B_HUMAN	K	85	ENSP00000363799:E85K	ENSP00000363799:E85K	E	-	1	0	ACTL7B	110657779	0.011000	0.17503	0.014000	0.15608	0.406000	0.30931	0.404000	0.20999	0.977000	0.38444	0.655000	0.94253	GAG		0.652	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686		52	333	0	0	0	1	0	52	333				
ACE2	59272	broad.mit.edu	37	X	15603621	15603621	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:15603621C>T	ENST00000252519.3	-	7	979	c.877G>A	c.(877-879)Gtt>Att	p.V293I	ACE2_ENST00000427411.1_Missense_Mutation_p.V293I			Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	293					angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|angiotensin-mediated drinking behavior (GO:0003051)|cellular protein metabolic process (GO:0044267)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|receptor biosynthetic process (GO:0032800)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell proliferation (GO:0042127)|regulation of cytokine production (GO:0001817)|regulation of inflammatory response (GO:0050727)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|response to virus (GO:0009615)|viral entry into host cell (GO:0046718)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	carboxypeptidase activity (GO:0004180)|endopeptidase activity (GO:0004175)|glycoprotein binding (GO:0001948)|peptide hormone binding (GO:0017046)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Lisinopril(DB00722)|Moexipril(DB00691)	GCATCAGTAACATCTATGTTT	0.323																																						ENST00000427411.1																			0				endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32						c.(877-879)Gtt>Att		angiotensin I converting enzyme 2	Moexipril(DB00691)						141.0	135.0	137.0					X																	15603621		2203	4299	6502	SO:0001583	missense	59272				angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding	g.chrX:15603621C>T	AF291820	CCDS14169.1	Xp22	2013-06-12	2013-06-12		ENSG00000130234	ENSG00000130234	3.4.17.23		13557	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	300335	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 2"""			10969042	Standard	NM_021804		Approved		uc004cxb.2	Q9BYF1	OTTHUMG00000021177	ENST00000252519.3:c.877G>A	X.37:g.15603621C>T	ENSP00000252519:p.Val293Ile					ACE2_ENST00000252519.3_Missense_Mutation_p.V293I	p.V293I	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN			8	1093	-	Hepatocellular(33;0.183)		293					C7ECU1|Q6UWP0|Q86WT0|Q9NRA7|Q9UFZ6	Missense_Mutation	SNP	ENST00000252519.3	37	c.877G>A	CCDS14169.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222459	0.79464	.	.	ENSG00000130234	ENST00000252519;ENST00000427411	T;T	0.36520	1.25;1.25	5.64	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.56819	0.2011	M	0.76170	2.325	0.40289	D	0.978489	P	0.50369	0.934	P	0.61533	0.89	T	0.59910	-0.7365	10	0.48119	T	0.1	-17.8728	13.6792	0.62474	0.0:0.9236:0.0:0.0764	.	293	Q9BYF1	ACE2_HUMAN	I	293	ENSP00000252519:V293I;ENSP00000389326:V293I	ENSP00000252519:V293I	V	-	1	0	ACE2	15513542	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	5.876000	0.69667	1.138000	0.42230	0.594000	0.82650	GTT		0.323	ACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055867.1			29	604	0	0	0	1	0	29	604				
HSP90AB2P	391634	broad.mit.edu	37	4	13339134	13339134	+	RNA	SNP	G	G	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:13339134G>C	ENST00000602906.1	+	0	862							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TCATCTTTTTGAGAACAAGAA	0.428																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														0							g.chr4:13339134G>C	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13339134G>C														0	862	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.428	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			26	310	0	0	0	1	0	26	310				
APBA2	321	broad.mit.edu	37	15	29346935	29346935	+	Missense_Mutation	SNP	C	C	T	rs199985120		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:29346935C>T	ENST00000558402.1	+	5	1447	c.848C>T	c.(847-849)tCg>tTg	p.S283L	APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	283					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.S283L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGCCCAAGTCGCTGAACCTC	0.672																																						ENST00000558402.1																			1	Substitution - Missense(1)	p.S283L(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59						c.(847-849)tCg>tTg		amyloid beta (A4) precursor protein-binding, family A, member 2							22.0	25.0	24.0					15																	29346935		2203	4299	6502	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29346935C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.848C>T	15.37:g.29346935C>T	ENSP00000453293:p.Ser283Leu					APBA2_ENST00000561069.1_Missense_Mutation_p.S283L|APBA2_ENST00000411764.1_Missense_Mutation_p.S283L|APBA2_ENST00000558259.1_Missense_Mutation_p.S283L|APBA2_ENST00000558330.1_Missense_Mutation_p.S283L	p.S283L			Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	5	1447	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	283					E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.848C>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.746657	0.89663	.	.	ENSG00000034053	ENST00000411764;ENST00000219865	T	0.60424	0.19	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000001	T	0.74898	0.3777	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.943;0.995;0.943	T	0.75880	-0.3161	10	0.45353	T	0.12	.	17.2277	0.86975	0.0:1.0:0.0:0.0	.	283;283;283	Q5XKC0;E9PGI4;Q99767	.;.;APBA2_HUMAN	L	283	ENSP00000409312:S283L	ENSP00000219865:S283L	S	+	2	0	APBA2	27134227	1.000000	0.71417	0.973000	0.42090	0.897000	0.52465	5.469000	0.66749	2.280000	0.76307	0.650000	0.86243	TCG		0.672	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		13	72	0	0	0	1	0	13	72				
RGPD1	400966	broad.mit.edu	37	2	87140987	87140987	+	Intron	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:87140987G>A	ENST00000409776.2	+	1	64				RGPD1_ENST00000398193.3_Silent_p.K5K			P0DJD0	RGPD1_HUMAN	RANBP2-like and GRIP domain containing 1						protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(1)|lung(1)	3						GGCGCAGCAAGGCCTACGGGG	0.672																																						ENST00000398193.3																			0				breast(1)|endometrium(1)|lung(1)	3						c.(13-15)aaG>aaA		RANBP2-like and GRIP domain containing 1							19.0	28.0	25.0					2																	87140987		2182	4283	6465	SO:0001627	intron_variant	400966				intracellular transport		binding	g.chr2:87140987G>A		CCDS46358.1, CCDS46358.2	2p11.2	2013-09-24			ENSG00000187627	ENSG00000187627		"""Tetratricopeptide (TTC) repeat domain containing"""	32414	protein-coding gene	gene with protein product		612704				15710750, 15815621	Standard	NM_001024457		Approved	RGP1	uc021vkh.1	P0DJD0	OTTHUMG00000153248	ENST00000409776.2:c.48+5848G>A	2.37:g.87140987G>A						RGPD1_ENST00000409776.2_Intron	p.K5K			Q68DN6	RGPD1_HUMAN			1	53	+			0					P0C839|Q68DN6|Q6V1X0	Silent	SNP	ENST00000409776.2	37	c.15G>A																																																																																					0.672	RGPD1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001024457		4	104	0	0	0	1	0	4	104				
STAP1	26228	broad.mit.edu	37	4	68436828	68436828	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:68436828G>T	ENST00000265404.2	+	2	229	c.147G>T	c.(145-147)ttG>ttT	p.L49F	STAP1_ENST00000396225.1_Missense_Mutation_p.L49F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	49	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						GGACAGAGTTGAGAGGAACTA	0.308																																						ENST00000265404.2																			0				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						c.(145-147)ttG>ttT		signal transducing adaptor family member 1							149.0	170.0	163.0					4																	68436828		2203	4299	6502	SO:0001583	missense	26228				cellular membrane fusion|intracellular protein transport	cytoplasm		g.chr4:68436828G>T	AB023483	CCDS3515.1	4q13.2	2013-02-14	2007-08-09		ENSG00000035720	ENSG00000035720		"""SH2 domain containing"""	24133	protein-coding gene	gene with protein product	"""BCR downstream signaling 1"""	604298				10518561, 10679268	Standard	NM_012108		Approved	STAP-1, BRDG1	uc003hde.4	Q9ULZ2	OTTHUMG00000129304	ENST00000265404.2:c.147G>T	4.37:g.68436828G>T	ENSP00000265404:p.Leu49Phe					STAP1_ENST00000396225.1_Missense_Mutation_p.L49F	p.L49F	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN			2	229	+			49			PH.		B2R980	Missense_Mutation	SNP	ENST00000265404.2	37	c.147G>T	CCDS3515.1	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173803	0.57692	.	.	ENSG00000035720	ENST00000265404;ENST00000396225	D;D	0.91792	-2.91;-2.91	4.36	3.51	0.40186	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.64402	D	0.000001	D	0.93919	0.8054	M	0.78637	2.42	0.43579	D	0.995917	D	0.55800	0.973	P	0.58577	0.841	D	0.93272	0.6652	10	0.72032	D	0.01	-1.3554	7.912	0.29796	0.1137:0.0:0.8863:0.0	.	49	Q9ULZ2	STAP1_HUMAN	F	49	ENSP00000265404:L49F;ENSP00000379527:L49F	ENSP00000265404:L49F	L	+	3	2	STAP1	68119423	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	1.064000	0.30579	1.182000	0.42928	0.430000	0.28490	TTG		0.308	STAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251434.1	NM_012108		65	805	1	0	3.37205e-40	1	3.86937e-40	65	805				
DNM1P47	100216544	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G	rs547715901	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166									DNM1 pseudogene 47																		CTTCTCAGAGCTGCTGTCCAA	0.592													.|||	3	0.000599042	0.0015	0.0014	5008	,	,		36190	0.0		0.0	False		,,,				2504	0.0					ENST00000561463.1																			0																																																			0							g.chr15:102303120C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303120C>G														0	11166	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	207	0	0	0	1	0	6	207				
TMPRSS6	164656	broad.mit.edu	37	22	37465248	37465248	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:37465248C>T	ENST00000346753.3	-	16	2121	c.2005G>A	c.(2005-2007)Gtg>Atg	p.V669M	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V660M	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	669	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCAGCGCCACGTCGTAGTCA	0.692																																						ENST00000381792.2																			0				breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						c.(1978-1980)Gtg>Atg		transmembrane protease, serine 6							38.0	37.0	38.0					22																	37465248		2198	4296	6494	SO:0001583	missense	164656				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	g.chr22:37465248C>T	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.2005G>A	22.37:g.37465248C>T	ENSP00000334962:p.Val669Met					TMPRSS6_ENST00000406725.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.V660M|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.V669M	p.V660M			Q8IU80	TMPS6_HUMAN			16	2118	-			669			Peptidase S1.		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	ENST00000346753.3	37	c.1978G>A	CCDS13941.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364687	0.82463	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	D;D;D;D	0.93859	-3.3;-3.3;-3.3;-3.3	4.83	4.83	0.62350	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.272317	0.30667	N	0.009123	D	0.95990	0.8694	L	0.61218	1.895	0.48762	D	0.999704	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.971	D	0.96633	0.9468	10	0.87932	D	0	.	17.9247	0.88979	0.0:1.0:0.0:0.0	.	660;669	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	M	660;669;660;660	ENSP00000371211:V660M;ENSP00000334962:V669M;ENSP00000385453:V660M;ENSP00000384964:V660M	ENSP00000334962:V669M	V	-	1	0	TMPRSS6	35795194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.672000	0.46850	2.215000	0.71742	0.561000	0.74099	GTG		0.692	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318822.1	NM_153609		18	60	0	0	0	1	0	18	60				
TUBA3E	112714	broad.mit.edu	37	2	130951720	130951720	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:130951720C>G	ENST00000312988.7	-	4	795	c.695G>C	c.(694-696)gGg>gCg	p.G232A		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	232					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					CACGATCTGCCCAATCAGGCG	0.557																																						ENST00000312988.7																			0				endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28						c.(694-696)gGg>gCg		tubulin, alpha 3e							174.0	125.0	142.0					2																	130951720		2203	4299	6502	SO:0001583	missense	112714				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr2:130951720C>G	BC057811	CCDS2158.1	2q21.1	2007-03-16			ENSG00000152086	ENSG00000152086		"""Tubulins"""	20765	protein-coding gene	gene with protein product							Standard	NM_207312		Approved		uc002tqv.3	Q6PEY2	OTTHUMG00000131626	ENST00000312988.7:c.695G>C	2.37:g.130951720C>G	ENSP00000318197:p.Gly232Ala						p.G232A	NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN			4	795	-	Colorectal(110;0.1)		232						Missense_Mutation	SNP	ENST00000312988.7	37	c.695G>C	CCDS2158.1	.	.	.	.	.	.	.	.	.	.	c	1.947	-0.442080	0.04604	.	.	ENSG00000152086	ENST00000312988	T	0.62639	0.01	2.92	2.03	0.26663	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.51477	U	0.000098	T	0.22936	0.0554	N	0.00298	-1.69	0.40595	D	0.981527	B	0.06786	0.001	B	0.11329	0.006	T	0.05338	-1.0891	10	0.40728	T	0.16	.	7.853	0.29466	0.0:0.8675:0.0:0.1325	.	232	Q6PEY2	TBA3E_HUMAN	A	232	ENSP00000318197:G232A	ENSP00000318197:G232A	G	-	2	0	TUBA3E	130668190	0.251000	0.23961	0.947000	0.38551	0.110000	0.19582	4.932000	0.63476	0.582000	0.29556	-0.403000	0.06358	GGG		0.557	TUBA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254519.1	NM_207312		17	730	0	0	0	1	0	17	730				
NRCAM	4897	broad.mit.edu	37	7	107866732	107866732	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:107866732T>C	ENST00000425651.2	-	6	640	c.641A>G	c.(640-642)gAa>gGa	p.E214G	NRCAM_ENST00000379022.4_Missense_Mutation_p.E214G|NRCAM_ENST00000413765.2_Missense_Mutation_p.E214G|NRCAM_ENST00000351718.4_Missense_Mutation_p.E208G|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214G|NRCAM_ENST00000379028.3_Missense_Mutation_p.E214G	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	214	Ig-like 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GATATAGTCTTCGCGGGTGTC	0.418																																						ENST00000379028.3																			0				breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						c.(640-642)gAa>gGa		neuronal cell adhesion molecule							129.0	136.0	134.0					7																	107866732		2203	4300	6503	SO:0001583	missense	4897				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding	g.chr7:107866732T>C		CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.641A>G	7.37:g.107866732T>C	ENSP00000401244:p.Glu214Gly					NRCAM_ENST00000351718.4_Missense_Mutation_p.E208G|NRCAM_ENST00000413765.2_Missense_Mutation_p.E214G|NRCAM_ENST00000379022.4_Missense_Mutation_p.E214G|NRCAM_ENST00000379024.4_Missense_Mutation_p.E214G|NRCAM_ENST00000425651.2_Missense_Mutation_p.E214G	p.E214G			Q92823	NRCAM_HUMAN			9	1111	-			214			Ig-like 2.		A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Missense_Mutation	SNP	ENST00000425651.2	37	c.641A>G	CCDS47686.1	.	.	.	.	.	.	.	.	.	.	T	15.73	2.920555	0.52653	.	.	ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000351718;ENST00000379024;ENST00000425651;ENST00000379022;ENST00000445979;ENST00000417701	T;T;T;T;T;T;T	0.03065	4.06;4.06;4.06;4.06;4.06;4.06;4.06	5.55	5.55	0.83447	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.313124	0.38272	N	0.001747	T	0.02970	0.0088	N	0.13098	0.295	0.39134	D	0.961914	B;B;B;B;B	0.32031	0.333;0.337;0.268;0.352;0.058	B;B;B;B;B	0.35727	0.149;0.209;0.158;0.098;0.051	T	0.34453	-0.9828	10	0.02654	T	1	.	15.992	0.80214	0.0:0.0:0.0:1.0	.	214;214;214;208;214	Q92823-5;Q92823-3;E9PDA4;Q92823-4;Q92823	.;.;.;.;NRCAM_HUMAN	G	214;214;214;214;208;214;214;214;208;208	ENSP00000368314:E214G;ENSP00000407858:E214G;ENSP00000325269:E208G;ENSP00000368310:E214G;ENSP00000401244:E214G;ENSP00000368308:E214G;ENSP00000390421:E208G	ENSP00000325269:E208G	E	-	2	0	NRCAM	107653968	0.985000	0.35326	0.987000	0.45799	0.987000	0.75469	2.648000	0.46647	2.228000	0.72767	0.528000	0.53228	GAA		0.418	NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132		65	456	0	0	0	1	0	65	456				
ARHGEF5	7984	broad.mit.edu	37	7	144075960	144075960	+	Splice_Site	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:144075960G>A	ENST00000056217.5	+	14	4810		c.e14+1		ARHGEF5_ENST00000471847.2_Splice_Site	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5						actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					AGCAGTGACGGTAAGCGGGAG	0.587																																						ENST00000056217.5																			0				breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.e14+1		Rho guanine nucleotide exchange factor (GEF) 5							152.0	124.0	133.0					7																	144075960		2203	4300	6503	SO:0001630	splice_region_variant	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144075960G>A	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.4636+1G>A	7.37:g.144075960G>A						ARHGEF5_ENST00000471847.2_Splice_Site		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN			14	4810	+	Melanoma(164;0.14)							A6NNJ2|Q6ZML7	Splice_Site	SNP	ENST00000056217.5	37		CCDS34771.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792429	0.50102	.	.	ENSG00000050327	ENST00000056217;ENST00000474817;ENST00000344879;ENST00000471847	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7991	0.88581	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARHGEF5	143706893	1.000000	0.71417	1.000000	0.80357	0.228000	0.25075	8.334000	0.90028	2.808000	0.96608	0.655000	0.94253	.		0.587	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435	Intron	7	622	0	0	0	1	0	7	622				
IGSF21	84966	broad.mit.edu	37	1	18703434	18703434	+	Silent	SNP	C	C	T	rs372579085		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:18703434C>T	ENST00000251296.1	+	8	1625	c.1242C>T	c.(1240-1242)acC>acT	p.T414T		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	414	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATCGCTGCACCGCCCAGAACC	0.657																																						ENST00000251296.1																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1240-1242)acC>acT		immunoglobin superfamily, member 21		C		0,4406		0,0,2203	48.0	44.0	46.0		1242	-10.3	0.0	1		46	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGSF21	NM_032880.4		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		414/468	18703434	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84966					extracellular region		g.chr1:18703434C>T	AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1242C>T	1.37:g.18703434C>T							p.T414T	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)	8	1625	+		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	414			Ig-like 2.		Q8NBR8	Silent	SNP	ENST00000251296.1	37	c.1242C>T	CCDS184.1																																																																																				0.657	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880		13	206	0	0	0	1	0	13	206				
DYNC1I2	1781	broad.mit.edu	37	2	172584337	172584337	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:172584337G>A	ENST00000397119.3	+	12	1170	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V327M|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.V335M|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V329M|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V329M|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V327M|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V335M	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	335					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GCAGTCAGCTGTGATGTCTGC	0.338																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1003-1005)Gtg>Atg		dynein, cytoplasmic 1, intermediate chain 2							73.0	66.0	68.0					2																	172584337		1857	4100	5957	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172584337G>A	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1003G>A	2.37:g.172584337G>A	ENSP00000380308:p.Val335Met					DYNC1I2_ENST00000409317.1_Missense_Mutation_p.V329M|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.V327M|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.V335M|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.V327M|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.V309M|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.V335M|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.V329M|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.V309M	p.V335M			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		12	1171	+			335					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.1003G>A	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021793	0.75275	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06;-1.06	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.92784	3.345	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.972;0.999;0.998;0.997;0.997;0.999	D	0.92600	0.6090	10	0.87932	D	0	-10.8188	20.2626	0.98452	0.0:0.0:1.0:0.0	.	58;327;329;309;309;335	B4DX93;B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;.;DC1I2_HUMAN	M	309;335;329;335;327;309;309;329;335;335;327	ENSP00000339430:V309M;ENSP00000433791:V335M;ENSP00000263811:V329M;ENSP00000380308:V335M;ENSP00000386522:V327M;ENSP00000423339:V309M;ENSP00000386397:V309M;ENSP00000386591:V329M;ENSP00000386415:V335M;ENSP00000386886:V335M;ENSP00000350692:V327M	ENSP00000263811:V329M	V	+	1	0	DYNC1I2	172292583	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.802000	0.96397	0.650000	0.86243	GTG		0.338	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		67	71	0	0	0	1	0	67	71				
CYP4F11	57834	broad.mit.edu	37	19	16040288	16040288	+	Missense_Mutation	SNP	G	G	A	rs138578304	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:16040288G>A	ENST00000402119.4	-	2	748	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	CYP4F11_ENST00000591841.1_5'Flank|CYP4F11_ENST00000248041.8_Missense_Mutation_p.R108W|CYP4F11_ENST00000326742.8_Missense_Mutation_p.R108W	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGATAGGCCGGATAATGTCA	0.557													.|||	4	0.000798722	0.0015	0.0	5008	,	,		17393	0.001		0.0	False		,,,				2504	0.001					ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(322-324)Cgg>Tgg		cytochrome P450, family 4, subfamily F, polypeptide 11		G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	148.0	147.0		322,322	0.5	0.0	19	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	101,101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	108/525,108/525	16040288	2,13004	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16040288G>A	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.322C>T	19.37:g.16040288G>A	ENSP00000384588:p.Arg108Trp					CYP4F11_ENST00000402119.3_Missense_Mutation_p.R108W|CYP4F11_ENST00000248041.7_Missense_Mutation_p.R108W	p.R108W			Q9HBI6	CP4FB_HUMAN			2	323	-			108						Missense_Mutation	SNP	ENST00000402119.4	37	c.322C>T	CCDS12337.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	g	9.581	1.123683	0.20959	2.27E-4	1.16E-4	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	D;D;D	0.95885	-3.84;-3.84;-3.84	2.97	0.515	0.17013	.	0.186462	0.33438	U	0.004906	D	0.91905	0.7437	M	0.66939	2.045	0.09310	N	1	B;B	0.32160	0.358;0.273	B;B	0.32090	0.14;0.12	D	0.86023	0.1508	10	0.87932	D	0	.	3.8072	0.08782	0.1324:0.0:0.4767:0.3909	.	108;108	F8W978;Q9HBI6	.;CP4FB_HUMAN	W	108	ENSP00000384588:R108W;ENSP00000248041:R108W;ENSP00000319859:R108W	ENSP00000248041:R108W	R	-	1	2	CYP4F11	15901288	0.011000	0.17503	0.003000	0.11579	0.018000	0.09664	0.164000	0.16542	0.440000	0.26502	0.313000	0.20887	CGG		0.557	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		6	684	0	0	0	1	0	6	684				
ANKRD27	84079	broad.mit.edu	37	19	33089124	33089124	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:33089124G>A	ENST00000306065.4	-	29	3238	c.3080C>T	c.(3079-3081)gCg>gTg	p.A1027V		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	1027					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.A1027V(1)		breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					GGACACGACCGCATCCTCTAC	0.617																																						ENST00000306065.4																			1	Substitution - Missense(1)	p.A1027V(1)	kidney(1)	breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42						c.(3079-3081)gCg>gTg		ankyrin repeat domain 27 (VPS9 domain)							95.0	90.0	92.0					19																	33089124		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33089124G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.3080C>T	19.37:g.33089124G>A	ENSP00000304292:p.Ala1027Val						p.A1027V	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN			29	3238	-	Esophageal squamous(110;0.137)		1027					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.3080C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	9.745	1.165830	0.21538	.	.	ENSG00000105186	ENST00000306065	T	0.60548	0.18	5.21	3.06	0.35304	.	0.594790	0.13748	N	0.365474	T	0.45034	0.1322	L	0.38175	1.15	0.09310	N	0.999997	B	0.11235	0.004	B	0.04013	0.001	T	0.39781	-0.9597	10	0.59425	D	0.04	-0.9939	7.6286	0.28226	0.1915:0.0:0.8085:0.0	.	1027	Q96NW4	ANR27_HUMAN	V	1027	ENSP00000304292:A1027V	ENSP00000304292:A1027V	A	-	2	0	ANKRD27	37780964	0.001000	0.12720	0.002000	0.10522	0.012000	0.07955	0.957000	0.29215	1.327000	0.45338	0.655000	0.94253	GCG		0.617	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139		6	757	0	0	0	1	0	6	757				
CTAG2	30848	broad.mit.edu	37	X	153880703	153880703	+	Missense_Mutation	SNP	C	C	T	rs199533324		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:153880703C>T	ENST00000247306.4	-	2	535	c.472G>A	c.(472-474)Gcc>Acc	p.A158T	CTAG2_ENST00000369585.3_Intron	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	158						centrosome (GO:0005813)				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCGGGGAGGCGGATCCCAGC	0.627																																						ENST00000247306.4																			0				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10						c.(472-474)Gcc>Acc		cancer/testis antigen 2							88.0	85.0	86.0					X																	153880703		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880703C>T	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.472G>A	X.37:g.153880703C>T	ENSP00000247306:p.Ala158Thr					CTAG2_ENST00000369585.3_Intron	p.A158T	NM_020994.3	NP_066274.1	O75638	CTAG2_HUMAN			2	535	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		158					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.472G>A	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	C	4.689	0.128137	0.08981	.	.	ENSG00000126890	ENST00000247306	T	0.28666	1.6	1.96	-1.18	0.09617	.	.	.	.	.	T	0.09555	0.0235	N	0.08118	0	0.09310	N	1	P	0.47034	0.889	B	0.24155	0.051	T	0.20240	-1.0281	9	0.87932	D	0	-0.3083	5.2476	0.15506	0.0:0.4782:0.0:0.5218	.	158	O75638	CTAG2_HUMAN	T	158	ENSP00000247306:A158T	ENSP00000247306:A158T	A	-	1	0	CTAG2	153533897	0.021000	0.18746	0.000000	0.03702	0.000000	0.00434	-0.015000	0.12634	-0.500000	0.06614	-0.425000	0.05940	GCC		0.627	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		50	574	0	0	0	1	0	50	574				
CCDC64B	146439	broad.mit.edu	37	16	3079353	3079353	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:3079353C>T	ENST00000572449.1	-	7	1097	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC64B_ENST00000573514.1_Silent_p.K138K|CCDC64B_ENST00000389347.4_Silent_p.K345K			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	345										breast(1)|endometrium(2)|large_intestine(1)	4						ATGTTCGCTTCTTGGGGGGCT	0.607																																						ENST00000573514.1																			0				breast(1)|endometrium(2)|large_intestine(1)	4						c.(412-414)aaG>aaA		coiled-coil domain containing 64B							47.0	44.0	45.0					16																	3079353		1980	4167	6147	SO:0001819	synonymous_variant	146439							g.chr16:3079353C>T	BC128602	CCDS45393.1	16p13.3	2008-07-04				ENSG00000162069			33584	protein-coding gene	gene with protein product							Standard	NM_001103175		Approved		uc002ctf.4	A1A5D9		ENST00000572449.1:c.1035G>A	16.37:g.3079353C>T						CCDC64B_ENST00000389347.4_Silent_p.K345K|CCDC64B_ENST00000572449.1_Silent_p.K345K	p.K138K			A1A5D9	BICR2_HUMAN			5	2604	-			345					Q658L9	Silent	SNP	ENST00000572449.1	37	c.414G>A	CCDS45393.1																																																																																				0.607	CCDC64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436991.1			4	67	0	0	0	1	0	4	67				
RRP8	23378	broad.mit.edu	37	11	6622651	6622651	+	Silent	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:6622651G>A	ENST00000254605.6	-	3	762	c.645C>T	c.(643-645)gcC>gcT	p.A215A	RRP8_ENST00000534343.1_Intron|ILK_ENST00000537806.1_5'Flank|ILK_ENST00000420936.2_5'Flank|ILK_ENST00000396751.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank|ILK_ENST00000299421.4_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	215					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						TCTCTGTGGGGGCCTCAGCTG	0.602																																						ENST00000254605.6																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						c.(643-645)gcC>gcT		ribosomal RNA processing 8, methyltransferase, homolog (yeast)							39.0	42.0	41.0					11																	6622651		2201	4296	6497	SO:0001819	synonymous_variant	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6622651G>A	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.645C>T	11.37:g.6622651G>A						RRP8_ENST00000534343.1_Intron	p.A215A	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN			3	762	-			215					Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	c.645C>T	CCDS31411.1																																																																																				0.602	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324		19	194	0	0	0	1	0	19	194				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		6	330	0	0	0	1	0	6	330				
FIG4	9896	broad.mit.edu	37	6	110146342	110146342	+	Silent	SNP	A	A	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:110146342A>C	ENST00000230124.3	+	23	2722	c.2598A>C	c.(2596-2598)ccA>ccC	p.P866P	FIG4_ENST00000441478.2_Silent_p.P560P|RP1-249I4.2_ENST00000458693.1_lincRNA	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 phosphoinositide 5-phosphatase	866					cell death (GO:0008219)|locomotory behavior (GO:0007626)|myelin assembly (GO:0032288)|negative regulation of myelination (GO:0031642)|neuron development (GO:0048666)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of neuron projection development (GO:0010976)|small molecule metabolic process (GO:0044281)|vacuole organization (GO:0007033)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)	phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		TTCAGCCCCCAAGAGTAGACA	0.448																																						ENST00000230124.3																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32						c.(2596-2598)ccA>ccC		FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)							126.0	120.0	122.0					6																	110146342		2203	4300	6503	SO:0001819	synonymous_variant	9896				cell death	endosome membrane	protein binding	g.chr6:110146342A>C	D87464	CCDS5078.1	6q21	2014-09-17	2014-08-04	2007-07-30	ENSG00000112367	ENSG00000112367			16873	protein-coding gene	gene with protein product		609390	"""KIAA0274"", ""FIG4 homolog (S. cerevisiae)"", ""FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)"""	KIAA0274		9039502, 11274189, 17572665	Standard	NM_014845		Approved	SAC3, hSac3, dJ249I4.1, ALS11, CMT4J	uc003ptt.2	Q92562	OTTHUMG00000015352	ENST00000230124.3:c.2598A>C	6.37:g.110146342A>C						FIG4_ENST00000441478.2_Silent_p.P560P	p.P866P	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)	23	2722	+		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)	866					Q53H49|Q5TCS6	Silent	SNP	ENST00000230124.3	37	c.2598A>C	CCDS5078.1																																																																																				0.448	FIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041768.1	NM_014845		64	563	0	0	0	1	0	64	563				
THBS4	7060	broad.mit.edu	37	5	79351673	79351673	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:79351673G>A	ENST00000350881.2	+	3	548	c.358G>A	c.(358-360)Gca>Aca	p.A120T	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A29T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	120	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CCTGCAGCTGGCAGACGGAAG	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(358-360)Gca>Aca		thrombospondin 4							147.0	152.0	151.0					5																	79351673		2203	4300	6503	SO:0001583	missense	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79351673G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.358G>A	5.37:g.79351673G>A	ENSP00000339730:p.Ala120Thr					CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A29T	p.A120T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	3	548	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	120			TSP N-terminal.		B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	c.358G>A	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348613	0.61183	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	T;T	0.02301	4.35;4.35	5.84	4.96	0.65561	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.04452	0.0122	L	0.61387	1.9	0.51767	D	0.999932	B	0.20887	0.049	B	0.16289	0.015	T	0.29088	-1.0023	10	0.48119	T	0.1	-16.1125	16.0811	0.81005	0.0:0.0:0.8649:0.1351	.	120	P35443	TSP4_HUMAN	T	120;29	ENSP00000339730:A120T;ENSP00000422298:A29T	ENSP00000339730:A120T	A	+	1	0	THBS4	79387429	1.000000	0.71417	0.998000	0.56505	0.754000	0.42855	5.520000	0.67080	1.457000	0.47850	0.591000	0.81541	GCA		0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			5	546	0	0	0	1	0	5	546				
IL27RA	9466	broad.mit.edu	37	19	14150430	14150430	+	Missense_Mutation	SNP	C	C	A	rs145198960		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:14150430C>A	ENST00000263379.2	+	3	454	c.329C>A	c.(328-330)gCa>gAa	p.A110E		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	110					cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						GGCACTAAGGCAGGCCAGCCT	0.617																																					Colon(164;1849 1896 4443 37792 47834)	ENST00000263379.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(328-330)gCa>gAa		interleukin 27 receptor, alpha							63.0	60.0	61.0					19																	14150430		2203	4300	6503	SO:0001583	missense	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14150430C>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.329C>A	19.37:g.14150430C>A	ENSP00000263379:p.Ala110Glu						p.A110E	NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN			3	454	+			110					A0N0L1|O60624	Missense_Mutation	SNP	ENST00000263379.2	37	c.329C>A	CCDS12303.1	.	.	.	.	.	.	.	.	.	.	C	4.815	0.151455	0.09185	.	.	ENSG00000104998	ENST00000263379	T	0.60171	0.21	4.54	0.796	0.18648	.	0.347275	0.21083	N	0.080446	T	0.30823	0.0777	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.23619	-1.0183	10	0.02654	T	1	-18.6192	6.4643	0.21973	0.3857:0.4401:0.1742:0.0	.	110	Q6UWB1	I27RA_HUMAN	E	110	ENSP00000263379:A110E	ENSP00000263379:A110E	A	+	2	0	IL27RA	14011430	0.000000	0.05858	0.001000	0.08648	0.356000	0.29392	-0.182000	0.09726	0.574000	0.29417	0.555000	0.69702	GCA		0.617	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		41	313	1	0	5.20837e-25	1	5.89174e-25	41	313				
MYO1E	4643	broad.mit.edu	37	15	59519753	59519753	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:59519753C>T	ENST00000288235.4	-	7	946	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	183	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCATCTGGTTCCCCACCTGGA	0.438																																						ENST00000288235.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(547-549)Gaa>Aaa		myosin IE							117.0	113.0	115.0					15																	59519753		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59519753C>T	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.547G>A	15.37:g.59519753C>T	ENSP00000288235:p.Glu183Lys					MYO1E_ENST00000558814.1_5'UTR	p.E183K	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	7	946	-			183			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.547G>A	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	37	6.031298	0.97221	.	.	ENSG00000157483	ENST00000288235	D	0.86769	-2.17	6.02	6.02	0.97574	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.89480	0.6727	L	0.33485	1.01	0.80722	D	1	P	0.46142	0.873	P	0.56088	0.791	D	0.89514	0.3773	10	0.72032	D	0.01	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	183	Q12965	MYO1E_HUMAN	K	183	ENSP00000288235:E183K	ENSP00000288235:E183K	E	-	1	0	MYO1E	57307045	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.865000	0.98341	0.655000	0.94253	GAA		0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		40	446	0	0	0	1	0	40	446				
BSN	8927	broad.mit.edu	37	3	49698770	49698770	+	Silent	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:49698770C>T	ENST00000296452.4	+	6	9606	c.9492C>T	c.(9490-9492)atC>atT	p.I3164I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3164					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ATGAGGTGATCGCCAGCCCCG	0.607																																						ENST00000296452.4																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106						c.(9490-9492)atC>atT		bassoon presynaptic cytomatrix protein							81.0	63.0	69.0					3																	49698770		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698770C>T	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.9492C>T	3.37:g.49698770C>T							p.I3164I	NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9606	+			3164					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.9492C>T	CCDS2800.1																																																																																				0.607	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		8	241	0	0	0	1	0	8	241				
DENND1A	57706	broad.mit.edu	37	9	126164112	126164112	+	Intron	SNP	C	C	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:126164112C>T	ENST00000373624.2	-	20	1779				DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron|MIR601_ENST00000385256.1_RNA|DENND1A_ENST00000394215.2_Missense_Mutation_p.G523S|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373620.3_Missense_Mutation_p.G553S	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAGGTCCAGCCTCTCGTCGGG	0.498											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000373620.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1657-1659)Ggc>Agc		DENN/MADD domain containing 1A							237.0	204.0	215.0					9																	126164112		2203	4300	6503	SO:0001627	intron_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126164112C>T	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1577+1568G>A	9.37:g.126164112C>T			OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1547	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.G523S	p.G553S	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN			21	1877	-			0					A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	37	c.1657G>A	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	8.905	0.957287	0.18507	.	.	ENSG00000119522	ENST00000373620;ENST00000394215	T;T	0.08193	3.28;3.12	4.3	1.43	0.22495	.	.	.	.	.	T	0.06872	0.0175	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33650	-0.9860	8	0.87932	D	0	.	6.362	0.21433	0.0:0.6831:0.0:0.3169	.	523;553	Q8TEH3-5;Q8TEH3-2	.;.	S	553;523	ENSP00000362722:G553S;ENSP00000377763:G523S	ENSP00000362722:G553S	G	-	1	0	DENND1A	125203933	0.021000	0.18746	0.000000	0.03702	0.012000	0.07955	1.123000	0.31308	0.196000	0.20367	-0.379000	0.06801	GGC		0.498	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		40	353	0	0	0	1	0	40	353				
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	CCA	-	rs141981296	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:4772583_4772585delCCA	ENST00000378191.4	+	2	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_ENST00000378190.3_In_Frame_Del_p.T225del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	225	Thr-rich.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T225_A226insT(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635																																						ENST00000378191.4																			1	Insertion - In frame(1)	p.T225_A226insT(1)	large_intestine(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(652-657)gcc>g		adherens junctions associated protein 1																																				SO:0001651	inframe_deletion	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772583_4772585delCCA	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.653_655delCCA	1.37:g.4772592_4772594delCCA	ENSP00000367433:p.Thr225del					AJAP1_ENST00000378190.3_In_Frame_Del_p.AT218del	p.AT218del	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	1034_1036	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	218			Thr-rich.		Q9Y229	In_Frame_Del	DEL	ENST00000378191.4	37	c.653_655delCCA	CCDS54.1																																																																																				0.635	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		9	105						9	105	---	---	---	---
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:6536011_6536013delCTC	ENST00000400915.3	-	4	361_363	c.295_297delGAG	c.(295-297)gagdel	p.E99del	PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377748.1_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99	Poly-Glu.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377748.1																			0				liver(1)	1						c.(358-360)del		pleckstrin homology domain containing, family G (with RhoGef domain) member 5																																				SO:0001651	inframe_deletion	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6536011_6536013delCTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.295_297delGAG	1.37:g.6536020_6536022delCTC	ENSP00000383706:p.Glu99del		OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del	p.E120del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	4	855_857	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	99					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	In_Frame_Del	DEL	ENST00000400915.3	37	c.358_360delGAG	CCDS41241.1																																																																																				0.631	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		8	535						8	535	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	lincRNA	DEL	CCA	CCA	-	rs28552466|rs61625886|rs374710813	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:121137791_121137793delCCA	ENST00000417218.1	+	0	0				RP11-343N15.1_ENST00000437515.1_lincRNA																							ATTTCGCCCTCCACCGCCGCCGC	0.631																																						ENST00000437515.1																			0																																																			0							g.chr1:121137791_121137793delCCA																													1.37:g.121137791_121137793delCCA														0	329	-									RNA	DEL	ENST00000417218.1	37																																																																																						0.631	AL592494.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000036739.1			13	50						13	50	---	---	---	---
CENPF	1063	broad.mit.edu	37	1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcafs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(5911-5913)tcfs		centromere protein F, 350/400kDa				15,4251		3,9,2121	53.0	58.0	56.0			1.9	0.1	1		57	17,8235		5,7,4114	no	frameshift	CENPF	NM_016343.3		8,16,6235	A1A1,A1R,RR		0.206,0.3516,0.2556			214818826	32,12486	2203	4300	6503	SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214818826delA	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.5913delA	1.37:g.214818826delA	ENSP00000355922:p.Ser1971fs						p.S1971fs	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	13	6081	+			2067					Q13171|Q13246|Q5VVM7	Frame_Shift_Del	DEL	ENST00000366955.3	37	c.5913delA	CCDS31023.1																																																																																				0.408	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343		7	293						7	293	---	---	---	---
EHBP1	23301	broad.mit.edu	37	2	63206352	63206353	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr2:63206352_63206353delGA	ENST00000263991.5	+	16	3077_3078	c.2595_2596delGA	c.(2593-2598)ctgagafs	p.R866fs	EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405015.3_Frame_Shift_Del_p.R831fs|EHBP1_ENST00000354487.3_Frame_Shift_Del_p.R831fs|EHBP1_ENST00000405289.1_Frame_Shift_Del_p.R831fs|EHBP1_ENST00000431489.1_Frame_Shift_Del_p.R831fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	866						cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R868fs*22(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GTCGGCAGCTGAGAGAGAGAGC	0.426																																						ENST00000263991.5																			1	Deletion - Frameshift(1)	p.R868fs*22(1)	large_intestine(1)	biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(2593-2598)ctgafs		EH domain binding protein 1																																				SO:0001589	frameshift_variant	23301					cytoplasm|membrane		g.chr2:63206352_63206353delGA	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	ENST00000263991.5:c.2595_2596delGA	2.37:g.63206360_63206361delGA	ENSP00000263991:p.Arg866fs					EHBP1_ENST00000354487.3_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000431489.1_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000405289.1_Frame_Shift_Del_p.LR830fs|EHBP1_ENST00000405015.3_Frame_Shift_Del_p.LR830fs	p.LR865fs	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		16	3077_3078	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		865					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Frame_Shift_Del	DEL	ENST00000263991.5	37	c.2595_2596delGA	CCDS1872.1																																																																																				0.426	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	NM_015252		8	307						8	307	---	---	---	---
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)tttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463																																						ENST00000256497.4																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(1321-1323)ttfs		ER degradation enhancer, mannosidase alpha-like 1							155.0	149.0	151.0					3																	5248941		2203	4300	6503	SO:0001589	frameshift_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5248941delT	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.1321delT	3.37:g.5248941delT	ENSP00000256497:p.Phe442fs					EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	p.F442fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	7	1454	+			442					A8K9C8|B4DXP3	Frame_Shift_Del	DEL	ENST00000256497.4	37	c.1321delT	CCDS33686.1																																																																																				0.463	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		10	621						10	621	---	---	---	---
TMEM40	55287	broad.mit.edu	37	3	12790198	12790200	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:12790198_12790200delGAG	ENST00000314124.7	-	3	521_523	c.165_167delCTC	c.(163-168)tcctct>tct	p.55_56SS>S	TMEM40_ENST00000264728.8_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_In_Frame_Del_p.55_56SS>S|TMEM40_ENST00000431022.2_In_Frame_Del_p.71_72SS>S	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	55	Ser-rich.			S -> F (in Ref. 1; BAA91967). {ECO:0000305}.		integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						tgaggaggaagaggaggaggagg	0.419																																						ENST00000314124.7																			0				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						c.(163-168)tct>tc		transmembrane protein 40																																				SO:0001651	inframe_deletion	55287					integral to membrane		g.chr3:12790198_12790200delGAG	BC020658	CCDS2613.1, CCDS68347.1, CCDS68348.1	3p25.2	2005-01-10			ENSG00000088726	ENSG00000088726			25620	protein-coding gene	gene with protein product						12477932	Standard	NM_018306		Approved	FLJ11036	uc003bxg.1	Q8WWA1	OTTHUMG00000129801	ENST00000314124.7:c.165_167delCTC	3.37:g.12790207_12790209delGAG	ENSP00000322837:p.Ser70del					TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000264728.8_In_Frame_Del_p.SS69del|TMEM40_ENST00000435218.2_In_Frame_Del_p.SS69del|TMEM40_ENST00000431022.2_In_Frame_Del_p.SS85del	p.SS69del	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN			3	521_523	-			69			Ser-rich.		C9JID5|Q8NAL4|Q9NUZ4	In_Frame_Del	DEL	ENST00000314124.7	37	c.165_167delCTC	CCDS2613.1																																																																																				0.419	TMEM40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252029.2	NM_018306		8	735						8	735	---	---	---	---
ALG1L	200810	broad.mit.edu	37	3	125647339	125647339	+	IGR	DEL	C	C	-	rs200677662		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr3:125647339delC	ENST00000340333.3	-	0	805				FAM86JP_ENST00000485843.1_RNA	NM_001015050.2|NM_001195223.1	NP_001015050.2|NP_001182152.1	Q6GMV1	ALG1L_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like								transferase activity, transferring glycosyl groups (GO:0016757)			large_intestine(2)|lung(2)	4						TGTTTCCAGGCCAGGCCAGGA	0.557																																						ENST00000485843.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr3:125647339delC	BC073816	CCDS33840.1, CCDS74998.1	3q21.2	2013-02-22	2013-02-22		ENSG00000189366	ENSG00000189366		"""Glycosyltransferase group 1 domain containing"""	33721	protein-coding gene	gene with protein product	"""asparagine-linked glycosylation 1-like 1"""		"""asparagine-linked glycosylation 1-like"""				Standard	NM_001015050		Approved	ALG1L1	uc003eig.2	Q6GMV1	OTTHUMG00000159588		3.37:g.125647339delC								NR_024251.1						0	484	+								D3DNA5	RNA	DEL	ENST00000340333.3	37		CCDS33840.1																																																																																				0.557	ALG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356347.1	NM_001015050		9	375						9	375	---	---	---	---
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	CA	-	rs571486674|rs145808953		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:1019055_1019056delCA	ENST00000398484.2	+	8	2015_2016	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584																																						ENST00000398484.2																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1435-1437)cfs		fibroblast growth factor receptor-like 1																																				SO:0001589	frameshift_variant	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1019055_1019056delCA		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1435_1436delCA	4.37:g.1019065_1019066delCA	ENSP00000381498:p.His479fs					FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs	p.H479fs			Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		8	2015_2016	+			479			His-rich.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Del	DEL	ENST00000398484.2	37	c.1435_1436delCA	CCDS3344.1																																																																																				0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		9	79						9	79	---	---	---	---
FGFBP1	9982	broad.mit.edu	37	4	15938178	15938178	+	Frame_Shift_Del	DEL	T	T	-	rs144178676|rs562275732	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:15938178delT	ENST00000382333.1	-	3	372	c.78delA	c.(76-78)aaafs	p.K26fs	FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	26					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CATTCTTCACTTTTTTTTTCC	0.527													TTTTTTTTT|TTTTTTTTT|TTTTTTTT|deletion	6	0.00119808	0.0015	0.0	5008	,	,		22647	0.002		0.002	False		,,,				2504	0.0					ENST00000382333.1																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						c.(76-78)aafs		fibroblast growth factor binding protein 1				10,149,4099		0,0,10,41,67,2011	73.0	76.0	75.0			-0.2	0.0	4	dbSNP_134	77	35,268,7925		0,0,35,67,134,3878	no	codingComplex	FGFBP1	NM_005130.3		0,0,45,108,201,5889	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6825,3.7341,3.7001			15938178	45,417,12024	2202	4298	6500	SO:0001589	frameshift_variant	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15938178delT	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.78delA	4.37:g.15938178delT	ENSP00000371770:p.Lys26fs					FGFBP1_ENST00000259988.2_Frame_Shift_Del_p.K26fs	p.K26fs	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN			3	372	-			26					A8K5J2	Frame_Shift_Del	DEL	ENST00000382333.1	37	c.78delA	CCDS3418.1																																																																																				0.527	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130		15	681						15	681	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182265	57182267	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:57182265_57182267delAGA	ENST00000504228.1	+	6	2702_2704	c.2597_2599delAGA	c.(2596-2601)cagaag>cag	p.K870del	KIAA1211_ENST00000264229.6_In_Frame_Del_p.K870del|KIAA1211_ENST00000541073.1_In_Frame_Del_p.K863del			Q6ZU35	K1211_HUMAN	KIAA1211	870	Poly-Lys.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCAGAACAGAAGAAGAAGAA	0.567																																						ENST00000504228.1																			0				endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65						c.(2596-2601)cag>c		KIAA1211				13,4193		0,13,2090						4.9	0.2			52	31,8179		2,27,4076	no	coding	KIAA1211	NM_020722.1		2,40,6166	A1A1,A1R,RR		0.3776,0.3091,0.3544				44,12372				SO:0001651	inframe_deletion	57482							g.chr4:57182265_57182267delAGA	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2597_2599delAGA	4.37:g.57182274_57182276delAGA	ENSP00000423366:p.Lys870del					KIAA1211_ENST00000541073.1_In_Frame_Del_p.QK859del|KIAA1211_ENST00000264229.6_In_Frame_Del_p.QK866del	p.QK866del			Q6ZU35	K1211_HUMAN			6	2702_2704	+	Glioma(25;0.08)|all_neural(26;0.101)		866					Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Del	DEL	ENST00000504228.1	37	c.2597_2599delAGA	CCDS43230.1																																																																																				0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		8	394						8	394	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71554620	71554622	+	In_Frame_Del	DEL	GAG	GAG	-	rs369776055		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:71554620_71554622delGAG	ENST00000254803.2	+	1	425_427	c.226_228delGAG	c.(226-228)gagdel	p.E81del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	81	Glu-rich.				brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ggaggatggcgaggaggaggagg	0.567																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(226-228)del		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71554620_71554622delGAG	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.226_228delGAG	4.37:g.71554629_71554631delGAG	ENSP00000254803:p.Glu81del						p.E81del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	425_427	+			81			Glu-rich.		Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.226_228delGAG	CCDS3546.1																																																																																				0.567	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		7	159						7	159	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76539579	76539580	+	Frame_Shift_Ins	INS	-	-	T	rs533914363		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:76539579_76539580insT	ENST00000429927.2	-	3	925_926	c.222_223insA	c.(220-225)aaacgafs	p.R75fs	CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.R75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	75	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTACCATCGTTTTTTTTTCT	0.322																																						ENST00000429927.2																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22						c.(220-225)aagatgfs		cyclin-dependent kinase-like 2 (CDC2-related kinase)																																				SO:0001589	frameshift_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76539579_76539580insT	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.223dupA	4.37:g.76539588_76539588dupT	ENSP00000412365:p.Arg75fs					CDKL2_ENST00000307465.4_Frame_Shift_Ins_p.M75fs	p.M75fs	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		3	925_926	-			75			Protein kinase.		B2R695	Frame_Shift_Ins	INS	ENST00000429927.2	37	c.222_223insA	CCDS3570.1																																																																																				0.322	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		10	378						10	378	---	---	---	---
PKD2	5311	broad.mit.edu	37	4	88986559	88986559	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:88986559delA	ENST00000508588.1	+	6	801	c.406delA	c.(406-408)aaafs	p.K137fs	PKD2_ENST00000237596.2_Frame_Shift_Del_p.K719fs|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	389					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACTAAAACTGAAAAAAAATAC	0.383																																						ENST00000237596.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2152-2154)aafs		polycystic kidney disease 2 (autosomal dominant)							102.0	109.0	106.0					4																	88986559		2203	4300	6503	SO:0001589	frameshift_variant	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986559delA	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.406delA	4.37:g.88986559delA	ENSP00000427131:p.Lys137fs					PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Frame_Shift_Del_p.K137fs|PKD2_ENST00000508588.1_Frame_Shift_Del_p.K137fs	p.K719fs	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2218	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	719			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000508588.1	37	c.2152delA																																																																																					0.383	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	NM_000297		9	602						9	602	---	---	---	---
SCLT1	132320	broad.mit.edu	37	4	129924994	129924995	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr4:129924994_129924995insT	ENST00000281142.5	-	6	830_831	c.327_328insA	c.(325-330)aaattgfs	p.L110fs	SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.L110fs|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.L87fs|SCLT1_ENST00000439369.2_Intron	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	110					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						AAGGCCTCCAATTTTTTTTCAA	0.381																																						ENST00000281142.5																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						c.(325-330)aatggafs		sodium channel and clathrin linker 1																																				SO:0001589	frameshift_variant	132320					centrosome		g.chr4:129924994_129924995insT	AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.328dupA	4.37:g.129925002_129925002dupT	ENSP00000281142:p.Leu110fs					SCLT1_ENST00000434680.1_Frame_Shift_Ins_p.NG109fs|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000503215.1_Frame_Shift_Ins_p.NG86fs	p.NG109fs	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN			6	830_831	-			109					A4QN04|Q0VAH2|Q6P2M4	Frame_Shift_Ins	INS	ENST00000281142.5	37	c.327_328insA	CCDS3740.1																																																																																				0.381	SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643		7	397						7	397	---	---	---	---
PPARGC1B	133522	broad.mit.edu	37	5	149216400	149216402	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr5:149216400_149216402delCAG	ENST00000309241.5	+	8	2414_2416	c.2382_2384delCAG	c.(2380-2385)gacagc>gac	p.S799del	PPARGC1B_ENST00000360453.4_In_Frame_Del_p.S760del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.S799del|PPARGC1B_ENST00000403750.1_In_Frame_Del_p.S735del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	799	Glu-rich.				actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)	p.S795N(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TCTTTGAAGACAGCAGCAGCAGC	0.601																																						ENST00000309241.5																			1	Substitution - Missense(1)	p.S795N(1)	breast(1)	NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(2380-2385)gac>ga		peroxisome proliferator-activated receptor gamma, coactivator 1 beta																																				SO:0001651	inframe_deletion	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149216400_149216402delCAG	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.2382_2384delCAG	5.37:g.149216409_149216411delCAG	ENSP00000312649:p.Ser799del					PPARGC1B_ENST00000403750.1_In_Frame_Del_p.DS730del|PPARGC1B_ENST00000394320.3_In_Frame_Del_p.DS794del|PPARGC1B_ENST00000360453.4_In_Frame_Del_p.DS755del	p.DS794del	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		8	2414_2416	+			794			Glu-rich.		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	In_Frame_Del	DEL	ENST00000309241.5	37	c.2382_2384delCAG	CCDS4298.1																																																																																				0.601	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		12	483						12	483	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		10	534						10	534	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			8	394						8	394	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		12	277						12	277	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269																																						ENST00000507897.1																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1423-1425)aafs		chromosome 6 open reading frame 165				30,4226		8,14,2106	58.0	61.0	60.0			0.1	1.0	6		61	63,8181		22,19,4081	no	frameshift	C6orf165	NM_001031743.2		30,33,6187	A1A1,A1R,RR		0.7642,0.7049,0.744			88144700	93,12407	2202	4295	6497	SO:0001589	frameshift_variant	154313							g.chr6:88144700delA	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1423delA	6.37:g.88144700delA	ENSP00000426769:p.Lys476fs					C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs	p.K476fs			Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	11	1506	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	476					A8K969|E1P507|Q8N9U4	Frame_Shift_Del	DEL	ENST00000507897.1	37	c.1423delA	CCDS34498.1																																																																																				0.269	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		9	524						9	524	---	---	---	---
OLIG3	167826	broad.mit.edu	37	6	137815210	137815212	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:137815210_137815212delTGG	ENST00000367734.2	-	1	319_321	c.96_98delCCA	c.(94-99)caccag>cag	p.H32del		NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN	oligodendrocyte transcription factor 3	32	Poly-His.				spinal cord motor neuron cell fate specification (GO:0021520)|spinal cord motor neuron migration (GO:0097476)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription corepressor activity (GO:0001106)	p.Q33K(1)		endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		ACGGCTCTCCtggtggtggtggt	0.596																																						ENST00000367734.2																			1	Substitution - Missense(1)	p.Q33K(1)	ovary(1)	endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11						c.(94-99)cag>ca		oligodendrocyte transcription factor 3																																				SO:0001651	inframe_deletion	167826				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr6:137815210_137815212delTGG	AK096362	CCDS5186.1	6q23.3	2013-05-21			ENSG00000177468	ENSG00000177468		"""Basic helix-loop-helix proteins"""	18003	protein-coding gene	gene with protein product		609323					Standard	NM_175747		Approved	Bhlhb7, bHLHe20	uc003qhp.1	Q7RTU3	OTTHUMG00000015657	ENST00000367734.2:c.96_98delCCA	6.37:g.137815219_137815221delTGG	ENSP00000356708:p.His32del						p.HQ32del	NM_175747.2	NP_786923.1	Q7RTU3	OLIG3_HUMAN		GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)	1	319_321	-	Breast(32;0.165)|Colorectal(23;0.24)		32			Poly-His.		Q8N8Q0	In_Frame_Del	DEL	ENST00000367734.2	37	c.96_98delCCA	CCDS5186.1																																																																																				0.596	OLIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042405.1	NM_175747		8	407						8	407	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146264834	146264836	+	In_Frame_Del	DEL	ATC	ATC	-	rs561556028		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr6:146264834_146264836delATC	ENST00000367505.2	-	9	1945_1947	c.1681_1683delGAT	c.(1681-1683)gatdel	p.D561del	SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367503.3_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	561					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		AATAGTAAGGATCATCATCATCA	0.36																																						ENST00000367503.3																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79						c.(1681-1683)del		SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase																																				SO:0001651	inframe_deletion	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146264834_146264836delATC	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.1681_1683delGAT	6.37:g.146264843_146264845delATC	ENSP00000356475:p.Asp561del					SHPRH_ENST00000438092.2_In_Frame_Del_p.D561del|SHPRH_ENST00000367505.2_In_Frame_Del_p.D561del|SHPRH_ENST00000275233.7_In_Frame_Del_p.D561del	p.D561del	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	9	2079_2081	-		Ovarian(120;0.0365)	561					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	In_Frame_Del	DEL	ENST00000367505.2	37	c.1681_1683delGAT	CCDS43513.2																																																																																				0.360	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		9	430						9	430	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)tccdel	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(1864-1866)del		caspase recruitment domain family, member 11																																				SO:0001651	inframe_deletion	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2963941_2963943delGGA	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1864_1866delTCC	7.37:g.2963950_2963952delGGA	ENSP00000380150:p.Ser622del						p.S622del	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	15	2267_2269	-		Ovarian(82;0.0115)	622					A4D1Z7|Q2NKN7|Q548H3	In_Frame_Del	DEL	ENST00000396946.4	37	c.1864_1866delTCC	CCDS5336.2																																																																																				0.616	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		8	559						8	559	---	---	---	---
OSBPL3	26031	broad.mit.edu	37	7	24904971	24904971	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:24904971delT	ENST00000313367.2	-	7	1114	c.663delA	c.(661-663)aaafs	p.K221fs	OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K221fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	221					lipid transport (GO:0006869)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	cholesterol binding (GO:0015485)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CTTTGGAGCATTTTTCCATGT	0.393																																						ENST00000313367.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						c.(661-663)aafs		oxysterol binding protein-like 3							262.0	242.0	249.0					7																	24904971		2203	4300	6503	SO:0001589	frameshift_variant	26031				lipid transport		lipid binding|protein binding	g.chr7:24904971delT	AB014604	CCDS5390.1, CCDS5391.1, CCDS5392.1, CCDS47564.1	7p15.3	2013-01-10			ENSG00000070882	ENSG00000070882		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16370	protein-coding gene	gene with protein product		606732		OSBP3		9734811	Standard	XM_005249698		Approved	ORP-3, ORP3, KIAA0704	uc003sxf.3	Q9H4L5	OTTHUMG00000023277	ENST00000313367.2:c.663delA	7.37:g.24904971delT	ENSP00000315410:p.Lys221fs					OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.K221fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.K221fs	p.K221fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN			7	1114	-			221					A4D167|A4D168|A4D169|A4D170|A4D171|A4D172|B8ZZ79|B8ZZP0|O14591|O43357|O43358|Q8N702|Q8N703|Q8N704|Q8NFH0|Q8NFH1|Q8NI12|Q8NI13|Q9BZF4|Q9UED6	Frame_Shift_Del	DEL	ENST00000313367.2	37	c.663delA	CCDS5390.1																																																																																				0.393	OSBPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214085.2			9	2087						9	2087	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284914	38284917	+	RNA	DEL	CTGA	CTGA	-	rs149178316|rs563966650|rs147429736	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:38284914_38284917delCTGA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										gtgtgtgtgtctgagtgtgtctgt	0.392														166	0.033147	0.0083	0.0231	5008	,	,		17035	0.0784		0.0358	False		,,,				2504	0.0245					ENST00000436911.2																			0																																																			0							g.chr7:38284914_38284917delCTGA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284914_38284917delCTGA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.392	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		12	215						12	215	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			14	104						14	104	---	---	---	---
FOXP2	93986	broad.mit.edu	37	7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:114270016_114270018delCAG	ENST00000393494.2	+	5	832_834	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393500.3_In_Frame_Del_p.Q116del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507																																						ENST00000393500.3																			2	Substitution - coding silent(2)	p.Q210Q(2)	lung(2)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(328-330)del		forkhead box P2																																				SO:0001651	inframe_deletion	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding	g.chr7:114270016_114270018delCAG	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.553_555delCAG	7.37:g.114270025_114270027delCAG	ENSP00000377132:p.Gln191del					FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del	p.Q116del			O15409	FOXP2_HUMAN			11	1148_1150	+			191			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	In_Frame_Del	DEL	ENST00000393494.2	37	c.328_330delCAG	CCDS5760.1																																																																																				0.507	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	296						8	296	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448200	142448207	+	RNA	DEL	GGTGGAAA	GGTGGAAA	-	rs56831387|rs112413030|rs76614416	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:142448200_142448207delGGTGGAAA	ENST00000422143.2	+	0	101									T cell receptor beta variable 29-1																		GTTAACACTGGGTGGAAAGGTGGAAAGA	0.457														1983	0.395966	0.3812	0.5187	5008	,	,		21381	0.2222		0.5974	False		,,,				2504	0.3006					ENST00000422143.2																			0																	1374,2160		346,682,739						1.6	0.0		dbSNP_129	48	4141,3571		1278,1585,993	no	intergenic				1624,2267,1732	A1A1,A1R,RR		46.3045,38.8795,49.0397				5515,5731						0							g.chr7:142448200_142448207delGGTGGAAA	L36092		7q34	2012-02-07			ENSG00000232869	ENSG00000232869		"""T cell receptors / TRB locus"""	12210	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV291, TCRBV29S1, TCRBV4S1A1T			OTTHUMG00000158898		7.37:g.142448208_142448215delGGTGGAAA														0	101	+									RNA	DEL	ENST00000422143.2	37																																																																																						0.457	TRBV29-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352510.1	NG_001333		12	55						12	55	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		7	459						7	459	---	---	---	---
RGS22	26166	broad.mit.edu	37	8	100990177	100990178	+	Frame_Shift_Ins	INS	-	-	T	rs7841915	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:100990177_100990178insT	ENST00000360863.6	-	23	3680_3681	c.3486_3487insA	c.(3484-3489)aaattgfs	p.L1163fs	RGS22_ENST00000523437.1_Frame_Shift_Ins_p.L1151fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.L982fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1163					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AGGACTGCCAATTTTTTTTTCT	0.312																																						ENST00000360863.6																		RGS22/SYCP1(2)	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(3484-3489)aatggcfs		regulator of G-protein signaling 22																																				SO:0001589	frameshift_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:100990177_100990178insT	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3487dupA	8.37:g.100990186_100990186dupT	ENSP00000354109:p.Leu1163fs					RGS22_ENST00000523437.1_Frame_Shift_Ins_p.NG1150fs|RGS22_ENST00000523287.1_Frame_Shift_Ins_p.NG981fs	p.NG1162fs	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		23	3680_3681	-			1162					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Frame_Shift_Ins	INS	ENST00000360863.6	37	c.3486_3487insA	CCDS43758.1																																																																																				0.312	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668		10	346						10	346	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000524013.1_In_Frame_Del_p.Q51del|MYC_ENST00000259523.6_In_Frame_Del_p.Q37del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			7	373						7	373	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1160	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3463-3468)gag>ga		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560102_35560104delGCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3465_3467delGCT	9.37:g.35560111_35560113delGCT	ENSP00000393922:p.Leu1160del						p.EL1155del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4034_4036	+			1155			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3465_3467delGCT	CCDS35008.1																																																																																				0.616	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	788						8	788	---	---	---	---
HRCT1	646962	broad.mit.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																						ENST00000354323.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						c.(64-66)del		histidine rich carboxyl terminus 1				367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	646962					integral to membrane		g.chr9:35906348_35906350delCTG		CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del						p.L28del	NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN			1	160_162	+			28					B7ZBJ1	In_Frame_Del	DEL	ENST00000354323.2	37	c.64_66delCTG	CCDS35012.1																																																																																				0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334099.1	NM_001039792		7	87						7	87	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	567						8	567	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		7	262						7	262	---	---	---	---
PHRF1	57661	broad.mit.edu	37	11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.				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						CAAAGCGAGCGAGGAGGAGGAGG	0.616																																						ENST00000264555.5																			0				breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(532-534)del		PHD and ring finger domains 1																																				SO:0001651	inframe_deletion	57661						RNA polymerase binding|zinc ion binding	g.chr11:592586_592588delGAG	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.532_534delGAG	11.37:g.592595_592597delGAG	ENSP00000264555:p.Glu181del					PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del|PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del	p.E181del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			6	660_662	+			181			Poly-Glu.		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	In_Frame_Del	DEL	ENST00000264555.5	37	c.532_534delGAG																																																																																					0.616	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1	NM_020901		9	877						9	877	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	RNA	DEL	GT	GT	-	rs144833103		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:14276276_14276277delGT	ENST00000310358.7	+	0	1627							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein				1,106,4101		0,0,1,3,100,2000						5.7	1.0		dbSNP_134	77	4,167,8025		0,0,4,1,165,3928	no	splice-5	SPON1	NM_006108.3		0,0,5,4,265,5928	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0864,2.5428,2.2412				5,273,12126						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14276276_14276277delGT	AB018305	CCDS73262.1	11p15.2	2014-05-06	2004-03-05		ENSG00000152268	ENSG00000262655			11252	protein-coding gene	gene with protein product		604989	"""spondin 1, (f-spondin) extracellular matrix protein"""			9872452	Standard	NM_006108		Approved	KIAA0762, f-spondin	uc001mle.3	Q9HCB6	OTTHUMG00000181576		11.37:g.14276286_14276287delGT										Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	1627	+								A8K6W5|O94862|Q8NCD7|Q8WUR5	RNA	DEL	ENST00000310358.7	37																																																																																						0.594	SPON1-201	KNOWN	basic	processed_transcript	processed_transcript		NM_145584		23	638						23	638	---	---	---	---
LRRC32	2615	broad.mit.edu	37	11	76372197	76372198	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:76372197_76372198insC	ENST00000407242.2	-	3	681_682	c.439_440insG	c.(439-441)gagfs	p.E147fs	LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.E147fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.E147fs|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	147					negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cytokine secretion (GO:0050710)|positive regulation of gene expression (GO:0010628)	integral component of plasma membrane (GO:0005887)				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GCTGGGTGCCTCCCCCAGCAGC	0.678																																						ENST00000407242.2																			0				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						c.(439-441)ggcfs		leucine rich repeat containing 32																																				SO:0001589	frameshift_variant	2615					integral to plasma membrane		g.chr11:76372197_76372198insC	Z24680	CCDS8245.1	11q13.5-q14	2008-02-05	2005-02-25	2005-02-25	ENSG00000137507	ENSG00000137507			4161	protein-coding gene	gene with protein product		137207	"""glycoprotein A repetitions predominant"""	D11S833E, GARP		8180135, 1543912	Standard	NM_005512		Approved		uc001oxq.4	Q14392	OTTHUMG00000133687	ENST00000407242.2:c.440dupG	11.37:g.76372202_76372202dupC	ENSP00000384126:p.Glu147fs					AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Frame_Shift_Ins_p.G147fs|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Frame_Shift_Ins_p.G147fs	p.G147fs	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN			3	681_682	-			147					Q86V06	Frame_Shift_Ins	INS	ENST00000407242.2	37	c.439_440insG	CCDS8245.1																																																																																				0.678	LRRC32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257926.2	NM_005512		7	204						7	204	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-	rs539338573|rs34562444	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23														1083	0.216254	0.1286	0.2435	5008	,	,		17643	0.1319		0.3718	False		,,,				2504	0.2423					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89405323_89405326delTTTA	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89405327_89405330delTTTA										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.230	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	6						7	6	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102818723	102818723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:102818723delT	ENST00000260302.3	-	8	1136	c.1108delA	c.(1108-1110)atafs	p.I370fs	MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	370	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	AGTTCAGATATTTTTTTGGGA	0.388																																						ENST00000260302.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27						c.(1108-1110)tafs		matrix metallopeptidase 13 (collagenase 3)							88.0	79.0	82.0					11																	102818723		2202	4299	6501	SO:0001589	frameshift_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102818723delT	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1108delA	11.37:g.102818723delT	ENSP00000260302:p.Ile370fs					MMP13_ENST00000340273.4_Frame_Shift_Del_p.I370fs	p.I370fs	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	8	1136	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	370			Hemopexin-like 2.		A8K846|B2RCZ3|Q6NWN6	Frame_Shift_Del	DEL	ENST00000260302.3	37	c.1108delA	CCDS8324.1																																																																																				0.388	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427		7	810						7	810	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		10	295						10	295	---	---	---	---
SIDT2	51092	broad.mit.edu	37	11	117064645	117064647	+	In_Frame_Del	DEL	TCT	TCT	-	rs369807521		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:117064645_117064647delTCT	ENST00000324225.4	+	24	2819_2821	c.2288_2290delTCT	c.(2287-2292)ctcttc>ctc	p.F767del	SIDT2_ENST00000532062.1_In_Frame_Del_p.F59del|SIDT2_ENST00000431081.2_In_Frame_Del_p.F764del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	767	Poly-Phe.				cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	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;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GGCTTCGCGCTCTTCTTCTTCTT	0.601																																						ENST00000324225.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2287-2292)ctc>c		SID1 transmembrane family, member 2																																				SO:0001651	inframe_deletion	51092					integral to membrane|lysosomal membrane		g.chr11:117064645_117064647delTCT	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.2288_2290delTCT	11.37:g.117064654_117064656delTCT	ENSP00000314023:p.Phe767del					SIDT2_ENST00000431081.2_In_Frame_Del_p.LF760del|SIDT2_ENST00000532062.1_In_Frame_Del_p.LF55del	p.LF763del	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)	24	2819_2821	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	763					Q8NBY7|Q9Y357	In_Frame_Del	DEL	ENST00000324225.4	37	c.2288_2290delTCT	CCDS31682.1																																																																																				0.601	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392836.1	NM_015996		9	319						9	319	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	14	756						14	756	---	---	---	---
TAS2R50	259296	broad.mit.edu	37	12	11139432	11139432	+	Frame_Shift_Del	DEL	A	A	-	rs79147066	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:11139432delA	ENST00000506868.1	-	1	79	c.28delT	c.(28-30)tcafs	p.S10fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)	p.S10fs*3(2)|p.S10fs*25(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						ATTAGAATTGAAAAAAAAATG	0.318													AAAAAAAAA|AAAAAAAAA|AAAAAAAA|deletion	5	0.000998403	0.0008	0.0	5008	,	,		18196	0.003		0.001	False		,,,				2504	0.0					ENST00000506868.1																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.S10fs*3(2)|p.S10fs*25(1)	large_intestine(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						c.(28-30)cafs		taste receptor, type 2, member 50				22,55,4089		0,0,22,2,51,2008	28.0	34.0	32.0			0.1	0.0	12	dbSNP_131	32	47,89,8042		0,0,47,1,87,3954	no	codingComplex	TAS2R50	NM_176890.2		0,0,69,3,138,5962	A1A1,A1A2,A1R,A2A2,A2R,RR		1.663,1.8483,1.7255			11139432	69,144,12131	2175	4275	6450	SO:0001589	frameshift_variant	259296				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11139432delA	AF494235	CCDS8638.1	12p13.2	2012-08-22			ENSG00000212126	ENSG00000212126		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18882	protein-coding gene	gene with protein product		609627				12379855, 12584440, 16175505	Standard	NM_176890		Approved	T2R51	uc001qzl.2	P59544	OTTHUMG00000162719	ENST00000506868.1:c.28delT	12.37:g.11139432delA	ENSP00000424040:p.Ser10fs					TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S10fs	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN			1	79	-			10					P59545|Q2M255|Q645Y0	Frame_Shift_Del	DEL	ENST00000506868.1	37	c.28delT	CCDS8638.1																																																																																				0.318	TAS2R50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370192.2	NM_176890		7	268						7	268	---	---	---	---
C12orf40	283461	broad.mit.edu	37	12	40076540	40076540	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:40076540delA	ENST00000324616.5	+	8	968	c.814delA	c.(814-816)aaafs	p.K272fs	C12orf40_ENST00000398716.1_Frame_Shift_Del_p.K195fs|C12orf40_ENST00000405531.3_Frame_Shift_Del_p.K272fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	272										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TATTTGGGGGAAAAATGGAAA	0.353																																						ENST00000324616.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						c.(814-816)aafs		chromosome 12 open reading frame 40							136.0	135.0	135.0					12																	40076540		1839	4080	5919	SO:0001589	frameshift_variant	283461							g.chr12:40076540delA	AK097445	CCDS41770.1	12q12	2008-08-04			ENSG00000180116	ENSG00000180116			26846	protein-coding gene	gene with protein product						12477932	Standard	XM_005268806		Approved	FLJ40126	uc001rmc.3	Q86WS4	OTTHUMG00000133567	ENST00000324616.5:c.814delA	12.37:g.40076540delA	ENSP00000317671:p.Lys272fs					C12orf40_ENST00000405531.3_Frame_Shift_Del_p.K272fs|C12orf40_ENST00000398716.1_Frame_Shift_Del_p.K195fs	p.K272fs	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN			8	968	+			272					B7WNU1|Q8IXY6|Q8N818|V9HW02	Frame_Shift_Del	DEL	ENST00000324616.5	37	c.814delA	CCDS41770.1																																																																																				0.353	C12orf40-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257664.2	NM_173599		7	793						7	793	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	798						7	798	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000541383.1_RNA|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		11	688						11	688	---	---	---	---
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-	rs371331758		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gaggga>gga	p.E89del	IFI27L1_ENST00000557066.1_5'Flank|DDX24_ENST00000555054.1_In_Frame_Del_p.E46del|IFI27L1_ENST00000555523.1_5'Flank|IFI27L1_ENST00000556381.1_5'Flank|IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000393115.3_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443																																						ENST00000330836.5																			0				cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(265-270)gga>g		DEAD (Asp-Glu-Ala-Asp) box helicase 24																																				SO:0001651	inframe_deletion	57062				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94545821_94545823delCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266_268delAGG	14.37:g.94545830_94545832delCCT	ENSP00000328690:p.Glu89del					DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del|DDX24_ENST00000544005.1_Intron	p.EG89del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	2	397_399	-		all_cancers(154;0.12)	89			Poly-Glu.		E7EMJ4|Q4V9L5	In_Frame_Del	DEL	ENST00000330836.5	37	c.266_268delAGG	CCDS9918.1																																																																																				0.443	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1	NM_020414		8	692						8	692	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473268	22473268	+	RNA	DEL	G	G	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:22473268delG	ENST00000557788.2	-	0	46							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											ATCAGAGGCAGCCTCCCCTAT	0.582																																						ENST00000557788.2																			0																																																			0							g.chr15:22473268delG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473268delG														0	46	-									RNA	DEL	ENST00000557788.2	37																																																																																						0.582	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			15	353						15	353	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		9	620						9	620	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65943128	65943130	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr15:65943128_65943130delGAG	ENST00000261892.6	+	7	2928_2930	c.2641_2643delGAG	c.(2641-2643)gagdel	p.E890del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	890	Poly-Glu.				calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						gcaggaggaagaggaggaggagg	0.562																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2641-2643)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1																																				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65943128_65943130delGAG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.2641_2643delGAG	15.37:g.65943137_65943139delGAG	ENSP00000261892:p.Glu890del					SLC24A1_ENST00000449142.2_3'UTR|SLC24A1_ENST00000537259.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.E872del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.E890del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.E872del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.E776del	p.E890del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			7	2928_2930	+			890			Poly-Glu.		O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.2641_2643delGAG	CCDS45284.1																																																																																				0.562	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	160						9	160	---	---	---	---
ZNF598	90850	broad.mit.edu	37	16	2049882	2049883	+	In_Frame_Ins	INS	-	-	TCC	rs61746014|rs377495742|rs370831505|rs141374045	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:2049882_2049883insTCC	ENST00000563630.1	-	9	1744_1745	c.1502_1503insGGA	c.(1501-1503)gac>gaGGAc	p.500_501insE	ZNF598_ENST00000562103.1_In_Frame_Ins_p.500_501insE|AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_In_Frame_Ins_p.555_556insE			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CCGGGCCGCCGTCCTCCTCCTC	0.703														518	0.103435	0.0061	0.1801	5008	,	,		13556	0.0387		0.1501	False		,,,				2504	0.1994					ENST00000563630.1																			1	Insertion - In frame(1)	p.E555_D556insE(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						c.(1501-1503)ggg>gGGAgg		zinc finger protein 598																																				SO:0001652	inframe_insertion	90850					intracellular	zinc ion binding	g.chr16:2049882_2049883insTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502dupGGA	16.37:g.2049889_2049891dupTCC	ENSP00000455882:p.Glu500_Glu500dup					ZNF598_ENST00000562103.1_In_Frame_Ins_p.501_502insR|ZNF598_ENST00000431526.1_In_Frame_Ins_p.556_557insR	p.501_502insR			Q86UK7	ZN598_HUMAN			9	1744_1745	-			556					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Ins	INS	ENST00000563630.1	37	c.1502_1503insGGA																																																																																					0.703	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1	NM_178167		17	19						17	19	---	---	---	---
EIF3C	8663	broad.mit.edu	37	16	28734579	28734581	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:28734579_28734581delGAG	ENST00000331666.6	+	9	1057_1059	c.871_873delGAG	c.(871-873)gagdel	p.E294del	EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del					eukaryotic translation initiation factor 3, subunit C											lung(5)|skin(1)	6						GCGCCTGGATGAGGAGGAGGAGG	0.562																																						ENST00000331666.6																			0				lung(5)|skin(1)	6						c.(871-873)del		eukaryotic translation initiation factor 3, subunit C																																				SO:0001651	inframe_deletion	8663					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr16:28734579_28734581delGAG	U46025	CCDS10638.1, CCDS66993.1	16p11.2	2008-02-05	2007-07-27	2007-07-27		ENSG00000184110			3279	protein-coding gene	gene with protein product		603916	"""eukaryotic translation initiation factor 3, subunit 8, 110kDa"""	EIF3S8		8995409	Standard	NM_001199142		Approved	eIF3-p110, eIF3c	uc002dph.4	Q99613		ENST00000331666.6:c.871_873delGAG	16.37:g.28734588_28734590delGAG	ENSP00000332604:p.Glu294del					EIF3C_ENST00000395587.1_In_Frame_Del_p.E294del|EIF3C_ENST00000564243.1_In_Frame_Del_p.E284del|EIF3C_ENST00000566866.1_In_Frame_Del_p.E294del|EIF3C_ENST00000566501.1_In_Frame_Del_p.E294del	p.E294del			Q99613	EIF3C_HUMAN			9	1057_1059	+			294			Poly-Glu.			In_Frame_Del	DEL	ENST00000331666.6	37	c.871_873delGAG	CCDS10638.1																																																																																				0.562	EIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216908.3	NM_003752		11	2761						11	2761	---	---	---	---
ITGAL	3683	broad.mit.edu	37	16	30531249	30531251	+	In_Frame_Del	DEL	GCT	GCT	-	rs374222520		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:30531249_30531251delGCT	ENST00000356798.6	+	30	3480_3482	c.3300_3302delGCT	c.(3298-3303)gggctg>ggg	p.L1106del	ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del|ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1106					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GCATCGGGGGGCTGCTGCTGCTG	0.601																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(3298-3303)ggg>gg		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)																																			SO:0001651	inframe_deletion	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30531249_30531251delGCT		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.3300_3302delGCT	16.37:g.30531258_30531260delGCT	ENSP00000349252:p.Leu1106del					ITGAL_ENST00000358164.5_In_Frame_Del_p.GL1016del|ITGAL_ENST00000433423.2_In_Frame_Del_p.GL334del	p.GL1100del	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			30	3480_3482	+			1100					O43746|Q45H73|Q96HB1|Q9UBC8	In_Frame_Del	DEL	ENST00000356798.6	37	c.3300_3302delGCT	CCDS32433.1																																																																																				0.601	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			9	782						9	782	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		7	253						7	253	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72821594	72821596	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:72821594_72821596delGCC	ENST00000268489.5	-	10	11251_11253	c.10579_10581delGGC	c.(10579-10581)ggcdel	p.G3527del	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3527	Poly-Gly.		G -> GGG.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGTGGTACGAgccgccgccgccg	0.69																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10579-10581)del		zinc finger homeobox 3																																				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821594_72821596delGCC	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10579_10581delGGC	16.37:g.72821603_72821605delGCC	ENSP00000268489:p.Gly3527del					ZFHX3_ENST00000397992.5_In_Frame_Del_p.G2613del|AC004943.1_ENST00000584072.1_RNA	p.G3527del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11251_11253	-		Ovarian(137;0.13)	3527		G -> GGG.	Poly-Gly.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.10579_10581delGGC	CCDS10908.1																																																																																				0.690	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	358						14	358	---	---	---	---
RP11-150D5.2	0	broad.mit.edu	37	16	76268905	76268905	+	lincRNA	DEL	T	T	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:76268905delT	ENST00000568714.1	-	0	135																											ttttcttttctttttttttGC	0.418																																						ENST00000568714.1																			0																																																			0							g.chr16:76268905delT																													16.37:g.76268905delT														0	135	-									RNA	DEL	ENST00000568714.1	37																																																																																						0.418	RP11-150D5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434958.1			8	185						8	185	---	---	---	---
GSE1	23199	broad.mit.edu	37	16	85682290	85682290	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr16:85682290delC	ENST00000253458.7	+	3	535	c.359delC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									GTGCCCAGCACCCCCCCCGTG	0.687																																						ENST00000253458.7																			1	Deletion - Frameshift(1)	p.V123fs*2(1)	ovary(1)								c.(358-360)acfs		Gse1 coiled-coil protein							64.0	64.0	64.0					16																	85682290		2197	4300	6497	SO:0001589	frameshift_variant	23199							g.chr16:85682290delC	D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.359delC	16.37:g.85682290delC	ENSP00000253458:p.Thr120fs					GSE1_ENST00000405402.2_Frame_Shift_Del_p.T16fs|GSE1_ENST00000393243.1_Frame_Shift_Del_p.T47fs	p.T120fs	NM_014615.2	NP_055430.1					3	535	+								D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Del	DEL	ENST00000253458.7	37	c.359delC	CCDS10952.1																																																																																				0.687	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325527.1	NM_014615		7	409						7	409	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		13	659						13	659	---	---	---	---
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144|rs377654044	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:7751859_7751861delCAC	ENST00000448097.2	+	11	2584_2586	c.2253_2255delCAC	c.(2251-2256)gtcacc>gtc	p.T762del	KDM6B_ENST00000254846.5_In_Frame_Del_p.T762del			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	762	Pro-rich.|Thr-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.65																																						ENST00000254846.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						c.(2251-2256)gtc>gt		lysine (K)-specific demethylase 6B																																				SO:0001651	inframe_deletion	23135				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr17:7751859_7751861delCAC	AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.2253_2255delCAC	17.37:g.7751868_7751870delCAC	ENSP00000412513:p.Thr762del					KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN			11	2642_2644	+			751			Pro-rich.|Thr-rich.		C9IZ40|Q96G33	In_Frame_Del	DEL	ENST00000448097.2	37	c.2253_2255delCAC																																																																																					0.650	KDM6B-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000440248.1	XM_043272		7	147						7	147	---	---	---	---
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atgctg>atg	p.L213del	SLC26A11_ENST00000411502.3_In_Frame_Del_p.L213del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.L213del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.L213del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675																																						ENST00000361193.3																			0				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28						c.(625-630)atg>a		solute carrier family 26 (anion exchanger), member 11																																				SO:0001651	inframe_deletion	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78201649_78201651delTGC		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.626_628delTGC	17.37:g.78201658_78201660delTGC	ENSP00000355384:p.Leu213del					SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del|SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del	p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		7	906_908	+	all_neural(118;0.0538)		209						In_Frame_Del	DEL	ENST00000361193.3	37	c.626_628delTGC	CCDS11771.2																																																																																				0.675	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			7	496						7	496	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	253						7	253	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		12	976						12	976	---	---	---	---
HNRNPL	3191	broad.mit.edu	37	19	39340485	39340497	+	Frame_Shift_Del	DEL	CCGCCGCCCGCCG	CCGCCGCCCGCCG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:39340485_39340497delCCGCCGCCCGCCG	ENST00000221419.5	-	1	476_488	c.110_122delCGGCGGGCGGCGG	c.(109-123)gcggcgggcggcggafs	p.AAGGG37fs	HNRNPL_ENST00000600873.1_Intron	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	37					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			accgccgcctccgccgcccgccgccgccATCTT	0.765																																						ENST00000221419.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(109-123)gafs		heterogeneous nuclear ribonucleoprotein L																																				SO:0001589	frameshift_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39340485_39340497delCCGCCGCCCGCCG	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.110_122delCGGCGGGCGGCGG	19.37:g.39340485_39340497delCCGCCGCCCGCCG	ENSP00000221419:p.Ala37fs					HNRNPL_ENST00000600873.1_Intron	p.AAGGG37fs	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		1	476_488	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		37					A6ND69|A6NIT8|Q9H3P3	Frame_Shift_Del	DEL	ENST00000221419.5	37	c.110_122delCGGCGGGCGGCGG	CCDS33015.1																																																																																				0.765	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			7	36						7	36	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	TCC	-	rs139624657|rs377069149|rs142743305		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:40900180_40900182delTCC	ENST00000324001.7	-	7	4347_4349	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1359	Poly-Glu.		Missing. {ECO:0000269|PubMed:11133365}.		axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695																																						ENST00000324001.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47						c.(4075-4080)gaa>ga		periaxin																																				SO:0001651	inframe_deletion	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40900180_40900182delTCC	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4077_4079delGGA	19.37:g.40900189_40900191delTCC	ENSP00000326018:p.Glu1361del					PRX_ENST00000291825.7_3'UTR	p.EE1359del	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	4347_4349	-			1359		Missing.	Poly-Glu.		Q9BXL9|Q9HCF2	In_Frame_Del	DEL	ENST00000324001.7	37	c.4077_4079delGGA	CCDS33028.1																																																																																				0.695	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		9	121						9	121	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753026	42753027	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:42753026_42753027insC	ENST00000222329.4	-	4	1394_1395	c.1237_1238insG	c.(1237-1239)gcafs	p.A413fs	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_Frame_Shift_Ins_p.A338fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	413					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TAGCGCCCCTGCCCCCTCAGCC	0.698																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1237-1239)aggfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753026_42753027insC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1238dupG	19.37:g.42753031_42753031dupC	ENSP00000222329:p.Ala413fs					ERF_ENST00000440177.2_Frame_Shift_Ins_p.R338fs|AC006486.9_ENST00000594664.1_Intron	p.R413fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1394_1395	-		Prostate(69;0.00682)	413					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.1237_1238insG	CCDS12600.1																																																																																				0.698	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		13	527						13	527	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			11	488						11	488	---	---	---	---
CFAP61	26074	broad.mit.edu	37	20	20243740	20243746	+	Frame_Shift_Del	DEL	GATTTGG	GATTTGG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:20243740_20243746delGATTTGG	ENST00000245957.5	+	21	2545_2551	c.2469_2475delGATTTGG	c.(2467-2475)ctgatttggfs	p.LIW823fs	C20orf26_ENST00000389656.3_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377309.2_Frame_Shift_Del_p.LIW179fs|RP5-1096J16.1_ENST00000460400.1_RNA|C20orf26_ENST00000377293.1_Frame_Shift_Del_p.LIW179fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		823										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TTAAGGCACTGATTTGGATAAGGAATA	0.44																																						ENST00000245957.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77						c.(2467-2475)ctfs		chromosome 20 open reading frame 26																																				SO:0001589	frameshift_variant	26074							g.chr20:20243740_20243746delGATTTGG																												ENST00000245957.5:c.2469_2475delGATTTGG	20.37:g.20243740_20243746delGATTTGG	ENSP00000245957:p.Leu823fs					C20orf26_ENST00000389656.3_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377293.1_Frame_Shift_Del_p.LIW179fs|C20orf26_ENST00000377309.2_Frame_Shift_Del_p.LIW179fs|RP5-1096J16.1_ENST00000460400.1_RNA	p.LIW823fs	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		READ - Rectum adenocarcinoma(2;0.171)	21	2545_2551	+			823					A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Frame_Shift_Del	DEL	ENST00000245957.5	37	c.2469_2475delGATTTGG	CCDS33447.1																																																																																				0.440	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3			13	819						13	819	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46279864	46279866	+	In_Frame_Del	DEL	CAA	CAA	-	rs578139784|rs112826888|rs1132443	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:46279864_46279866delCAA	ENST00000371998.3	+	20	3981_3983	c.3790_3792delCAA	c.(3790-3792)caadel	p.Q1276del	NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000372004.3_In_Frame_Del_p.Q1272del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1276	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						gcagcagcagcaacagcaacagc	0.567														844	0.16853	0.3699	0.098	5008	,	,		14322	0.0952		0.0795	False		,,,				2504	0.1135					ENST00000372004.3																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3778-3780)del		nuclear receptor coactivator 3																																				SO:0001651	inframe_deletion	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279864_46279866delCAA	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3790_3792delCAA	20.37:g.46279864_46279866delCAA	ENSP00000361066:p.Gln1276del					NCOA3_ENST00000371997.3_In_Frame_Del_p.Q1267del|NCOA3_ENST00000371998.3_In_Frame_Del_p.Q1276del|NCOA3_ENST00000341724.6_In_Frame_Del_p.Q1202del	p.Q1272del	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3994_3996	+			1276			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Del	DEL	ENST00000371998.3	37	c.3778_3780delCAA	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		8	283						8	283	---	---	---	---
YTHDF1	54915	broad.mit.edu	37	20	61833650	61833652	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr20:61833650_61833652delCCT	ENST00000370339.3	-	4	1981_1983	c.1640_1642delAGG	c.(1639-1644)gaggtg>gtg	p.E547del	YTHDF1_ENST00000370333.4_In_Frame_Del_p.E497del|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	547							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTGCGCACCACCTCCTCCTCCTC	0.557																																						ENST00000370339.3																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						c.(1639-1644)gtg>g		YTH domain family, member 1																																				SO:0001651	inframe_deletion	54915							g.chr20:61833650_61833652delCCT	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.1640_1642delAGG	20.37:g.61833659_61833661delCCT	ENSP00000359364:p.Glu547del					YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_In_Frame_Del_p.EV497del	p.EV547del	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN			4	1981_1983	-			547					Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	In_Frame_Del	DEL	ENST00000370339.3	37	c.1640_1642delAGG	CCDS13511.1																																																																																				0.557	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798		8	812						8	812	---	---	---	---
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		9	3						9	3	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20918916	20918918	+	In_Frame_Del	DEL	CAG	CAG	-	rs374794651		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:20918916_20918918delCAG	ENST00000263205.7	+	6	700_702	c.631_633delCAG	c.(631-633)cagdel	p.Q218del	MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	218	Poly-Gln.			Missing (in Ref. 4; CAG30423). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagctccagcagcagcagc	0.567											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(631-633)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20918916_20918918delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.631_633delCAG	22.37:g.20918925_20918927delCAG	ENSP00000263205:p.Gln218del		OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	744	MED15_ENST00000406969.1_In_Frame_Del_p.Q192del|MED15_ENST00000542773.1_In_Frame_Del_p.Q23del|MED15_ENST00000541476.1_In_Frame_Del_p.Q192del|MED15_ENST00000425759.2_In_Frame_Del_p.Q107del|MED15_ENST00000382974.2_In_Frame_Del_p.Q147del|MED15_ENST00000292733.7_In_Frame_Del_p.Q218del	p.Q218del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		6	700_702	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	218	Missing (in Ref. 4; CAG30423).		Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.631_633delCAG	CCDS33602.1																																																																																				0.567	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		7	153						7	153	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38471034	38471036	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:38471034_38471036delGGA	ENST00000404072.3	+	13	1490_1492	c.1143_1145delGGA	c.(1141-1146)ggggag>ggg	p.E388del	PICK1_ENST00000356976.3_In_Frame_Del_p.E388del|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	388	Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TCACAGATGGggaggaggaggag	0.635																																						ENST00000404072.3																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1141-1146)ggg>gg		protein interacting with PRKCA 1																																				SO:0001651	inframe_deletion	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38471034_38471036delGGA	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.1143_1145delGGA	22.37:g.38471043_38471045delGGA	ENSP00000385205:p.Glu388del					PICK1_ENST00000356976.3_In_Frame_Del_p.GE381del	p.GE381del	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			13	1490_1492	+	Melanoma(58;0.045)		381					B3KS52|O95906	In_Frame_Del	DEL	ENST00000404072.3	37	c.1143_1145delGGA	CCDS13965.1																																																																																				0.635	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		9	204						9	204	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42262949	42262951	+	In_Frame_Del	DEL	GCA	GCA	-	rs143615881		TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chr22:42262949_42262951delGCA	ENST00000361204.4	+	2	369_371	c.203_205delGCA	c.(202-207)ggcagc>ggc	p.S74del		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	74	Gly/Pro/Ser-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ggcagcagtggcagcagcagcag	0.567																																						ENST00000361204.4																			0				NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(202-207)ggc>g		sterol regulatory element binding transcription factor 2																																				SO:0001651	inframe_deletion	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42262949_42262951delGCA	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.203_205delGCA	22.37:g.42262958_42262960delGCA	ENSP00000354476:p.Ser74del						p.GS68del	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN			2	369_371	+			68			Gly/Pro/Ser-rich.		Q05BD5|Q6GTH7|Q86V36|Q9UH04	In_Frame_Del	DEL	ENST00000361204.4	37	c.203_205delGCA	CCDS14023.1																																																																																				0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		11	533						11	533	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:54011405_54011407delCTC	ENST00000357988.5	-	18	2849_2851	c.2491_2493delGAG	c.(2491-2493)gagdel	p.E831del	PHF8_ENST00000338154.6_In_Frame_Del_p.E795del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591																																						ENST00000338154.6																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2383-2385)del		PHD finger protein 8																																				SO:0001651	inframe_deletion	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54011405_54011407delCTC	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2491_2493delGAG	X.37:g.54011414_54011416delCTC	ENSP00000350676:p.Glu831del					PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del	p.E795del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN			18	2887_2889	-			831			Ser-rich.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	In_Frame_Del	DEL	ENST00000357988.5	37	c.2383_2385delGAG	CCDS55420.1																																																																																				0.591	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		12	749						12	749	---	---	---	---
BHLHB9	80823	broad.mit.edu	37	X	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.				learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488																																						ENST00000372735.1																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(496-498)del		basic helix-loop-helix domain containing, class B, 9																																				SO:0001651	inframe_deletion	80823					cytoplasm|nucleus	binding	g.chrX:102004419_102004421delGAG	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.496_498delGAG	X.37:g.102004428_102004430delGAG	ENSP00000361820:p.Glu171del					BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del	p.E171del			Q6PI77	BHLH9_HUMAN			4	1081_1083	+			171			Poly-Glu.		Q9C0G2	In_Frame_Del	DEL	ENST00000372735.1	37	c.496_498delGAG	CCDS14502.1																																																																																				0.488	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639		14	698						14	698	---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AABP-01A-11D-A40W-08	TCGA-2J-AABP-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	662cdf99-f06e-4888-a37b-0ac40290812e	9004caef-8e7c-48c3-935f-b42764af6613	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)gatdel	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1006-1008)del		zinc finger and BTB domain containing 33																																				SO:0001651	inframe_deletion	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388276_119388278delGAT	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1006_1008delGAT	X.37:g.119388285_119388287delGAT	ENSP00000314153:p.Asp340del					ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1234_1236	+			340					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Del	DEL	ENST00000326624.2	37	c.1006_1008delGAT	CCDS14596.1																																																																																				0.433	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		9	468						9	468	---	---	---	---
