#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADCY2	108	broad.mit.edu;ucsc.edu	37	5	7626320	7626320	+	Missense_Mutation	SNP	C	C	T	rs188113151		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:7626320C>T	ENST00000338316.4	+	4	700	c.611C>T	c.(610-612)gCg>gTg	p.A204V		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	204				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). {ECO:0000305}.	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)	p.A204V(1)		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						GGGAACCTGGCGGGAGCCTAC	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18433	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											155.0	151.0	153.0					5																	7626320		2203	4300	6503	SO:0001583	missense	108			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.611C>T	5.37:g.7626320C>T	ENSP00000342952:p.Ala204Val	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	CCDS3872.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	8.368	0.834560	0.16820	.	.	ENSG00000078295	ENST00000338316;ENST00000541993	T	0.75821	-0.97	5.09	4.2	0.49525	.	0.116409	0.64402	D	0.000020	T	0.58750	0.2144	L	0.36672	1.1	0.80722	D	1	B	0.10296	0.003	B	0.04013	0.001	T	0.51671	-0.8676	10	0.02654	T	1	.	11.8488	0.52399	0.0:0.9138:0.0:0.0862	.	204	Q08462	ADCY2_HUMAN	V	204;55	ENSP00000342952:A204V	ENSP00000342952:A204V	A	+	2	0	ADCY2	7679320	1.000000	0.71417	0.958000	0.39756	0.926000	0.56050	5.406000	0.66357	2.520000	0.84964	0.655000	0.94253	GCG		0.438	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2		NM_020546	
APCS	325	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	159557958	159557958	+	Silent	SNP	G	G	A	rs371650621		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:159557958G>A	ENST00000255040.2	+	2	229	c.132G>A	c.(130-132)ccG>ccA	p.P44P		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	44	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)	p.P44P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					TGATCACACCGCTGGAGAAGC	0.443																																																	1	Substitution - coding silent(1)	kidney(1)						G		2,4404	4.2+/-10.8	0,2,2201	103.0	101.0	102.0		132	-6.4	0.0	1		102	0,8600		0,0,4300	no	coding-synonymous	APCS	NM_001639.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		44/224	159557958	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.132G>A	1.37:g.159557958G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000255040.2	37	CCDS1186.1																																																																																				0.443	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059024.2		NM_001639	
ASPH	444	hgsc.bcm.edu	37	8	62588723	62588724	+	Intron	INS	-	-	TTC	rs573164897	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:62588723_62588724insTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000522835.1_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000517661.1_In_Frame_Ins_p.145_146insE|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000379449.6_In_Frame_Ins_p.174_175insE	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GCGGTTTCGCTTTCTTCTTCTT	0.376														27	0.00539137	0.0204	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0																0									,,,,,,,,,,,	35,3247		0,35,1606					,,,,,,,,,,,	5.9	1.0			114	4,7048		0,4,3522	no	intron,intron,intron,intron,intron,coding,intron,intron,intron,intron,intron,intron	ASPH	NM_032468.4,NM_032467.3,NM_032466.3,NM_020164.4,NM_004318.3,NM_001164756.1,NM_001164755.1,NM_001164754.1,NM_001164753.1,NM_001164752.1,NM_001164751.1,NM_001164750.1	,,,,,,,,,,,	0,39,5128	A1A1,A1R,RR		0.0567,1.0664,0.3774	,,,,,,,,,,,	,,,,,,,,,,,		39,10295				SO:0001627	intron_variant	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4802->GAA	8.37:g.62588730_62588732dupTTC		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Ins	INS	ENST00000379454.4	37	CCDS34898.1																																																																																				0.376	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3		NM_004318	
CD200	4345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	112054820	112054820	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:112054820C>T	ENST00000473539.1	+	2	100	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	CD200_ENST00000607516.1_3'UTR|CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.L15F(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				GGGCCCTCTCCTTACAGCTAC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											144.0	149.0	147.0					3																	112054820		2203	4300	6503	SO:0001583	missense	4345				CCDS2965.1, CCDS33818.1	3q13.2	2013-09-20	2006-03-28	2004-09-01	ENSG00000091972	ENSG00000091972		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7203	protein-coding gene	gene with protein product		155970	"""antigen identified by monoclonal antibody MRC OX-2"", ""CD200 antigen"""	MOX1, MOX2			Standard	XM_005247482		Approved	MRC, OX-2	uc003dyw.3	P41217	OTTHUMG00000159248	ENST00000473539.1:c.43C>T	3.37:g.112054820C>T	ENSP00000420298:p.Leu15Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQI1|B4DLW9|D3DN65|Q6J2Q6|Q6PIQ4|Q8TB85|Q9H3J3	Missense_Mutation	SNP	ENST00000473539.1	37	CCDS33818.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.855442	0.32791	.	.	ENSG00000091972	ENST00000473539	T	0.73363	-0.74	2.29	0.428	0.16499	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.09310	N	0.999999	B	0.12013	0.005	B	0.06405	0.002	T	0.52704	-0.8540	8	0.87932	D	0	2.3603	4.4854	0.11787	0.0:0.6564:0.0:0.3436	.	15	P41217-3	.	F	15	ENSP00000420298:L15F	ENSP00000420298:L15F	L	+	1	0	CD200	113537510	0.000000	0.05858	0.002000	0.10522	0.024000	0.10985	-1.947000	0.01534	0.082000	0.17018	-0.208000	0.12717	CTT		0.443	CD200-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354079.1			
CDKN2AIPNL	91368	hgsc.bcm.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu	37	5	133747410	133747411	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:133747410_133747411GC>AA	ENST00000458198.2	-	1	178_179	c.135_136GC>TT	c.(133-138)ctGCgc>ctTTgc	p.R46C	CDKN2AIPNL_ENST00000395009.3_Missense_Mutation_p.R46C	NM_080656.2	NP_542387.1	Q96HQ2	C2AIL_HUMAN	CDKN2A interacting protein N-terminal like	46								p.L45>?(1)|p.L45L(1)		central_nervous_system(1)|kidney(2)|prostate(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCAGGTGGCGCAGGATGAATT	0.658											OREG0016789	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Complex(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	91368			BC008293	CCDS4175.1	5q31.1	2008-02-05			ENSG00000237190	ENSG00000237190			30545	protein-coding gene	gene with protein product						12477932	Standard	NM_080656		Approved	MGC13017	uc011cxs.2	Q96HQ2	OTTHUMG00000129123	ENST00000458198.2:c.135_136delinsAA	5.37:g.133747410_133747411delinsAA	ENSP00000394183:p.Arg46Cys	Somatic	1605	WXS	Illumina HiSeq	Phase_I	Q8WVE3	Missense_Mutation|Silent	SNP	ENST00000458198.2	37	CCDS4175.1																																																																																				0.658	CDKN2AIPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251171.2		NM_080656	
CNOT2	4848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	70723321	70723321	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:70723321G>T	ENST00000418359.3	+	6	808	c.357G>T	c.(355-357)atG>atT	p.M119I	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000229195.3_Missense_Mutation_p.M119I	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	119					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)	p.M119I(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TACCAACAATGTCACTTCACA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											139.0	126.0	130.0					12																	70723321		2203	4300	6503	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.357G>T	12.37:g.70723321G>T	ENSP00000412091:p.Met119Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	ENST00000418359.3	37	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.490501	0.26686	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000552915;ENST00000550641;ENST00000548159;ENST00000549750;ENST00000551043;ENST00000551873;ENST00000550194	T;T;T;T	0.42900	0.96;0.96;0.98;0.96	5.5	5.5	0.81552	.	0.117425	0.85682	D	0.000000	T	0.29355	0.0731	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07673	-1.0760	10	0.18276	T	0.48	-4.8912	19.4076	0.94655	0.0:0.0:1.0:0.0	.	119	Q9NZN8	CNOT2_HUMAN	I	119;119;119;119;99;110;119;119;34;119	ENSP00000229195:M119I;ENSP00000412091:M119I;ENSP00000449659:M110I;ENSP00000449260:M119I	ENSP00000229195:M119I	M	+	3	0	CNOT2	69009588	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.564000	0.82326	2.586000	0.87340	0.460000	0.39030	ATG		0.423	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			
COL4A3	1285	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228173652	228173652	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:228173652G>A	ENST00000396578.3	+	49	4662	c.4500G>A	c.(4498-4500)atG>atA	p.M1500I	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	1500	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.|Required for the anti-angiogenic activity of tumstatin.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)	p.M1500I(2)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		TTACCACAATGCCATTCTTAT	0.388																																																	2	Substitution - Missense(2)	kidney(2)											123.0	112.0	115.0					2																	228173652		1916	4129	6045	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.4500G>A	2.37:g.228173652G>A	ENSP00000379823:p.Met1500Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308334	0.81247	.	.	ENSG00000169031	ENST00000396578;ENST00000328380	D	0.94330	-3.4	5.97	5.97	0.96955	C-type lectin fold (1);	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.84219	2.685	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	D	0.97024	0.9745	10	0.87932	D	0	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	1500;1500	Q01955-2;Q01955	.;CO4A3_HUMAN	I	1500	ENSP00000379823:M1500I	ENSP00000327594:M1500I	M	+	3	0	COL4A3	227881896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	ATG		0.388	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091	
CORO7	79585	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4405287	4405287	+	Splice_Site	SNP	C	C	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr16:4405287C>A	ENST00000251166.4	-	27	2917	c.2772G>T	c.(2770-2772)tgG>tgT	p.W924C	CORO7_ENST00000539968.1_Splice_Site_p.W704C|CORO7-PAM16_ENST00000572467.1_Splice_Site_p.W924C|CORO7-PAM16_ENST00000572274.1_5'UTR|PAM16_ENST00000576217.1_Intron|CORO7_ENST00000574025.1_Splice_Site_p.W839C|CORO7_ENST00000537233.2_Splice_Site_p.W906C	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	924					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)	p.W924C(1)		breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						CACTACTCACCCACTCGTCCT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											79.0	62.0	68.0					16																	4405287		2197	4299	6496	SO:0001630	splice_region_variant	79585			AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2772+1G>T	16.37:g.4405287C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DFD6|B4DL18|I3L416|Q17RK4	Missense_Mutation	SNP	ENST00000251166.4	37	CCDS10513.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458677	0.84317	.	.	ENSG00000103426	ENST00000251166;ENST00000537233;ENST00000539968	T;T	0.81330	-1.48;-1.39	4.96	4.96	0.65561	.	1.094420	0.06985	N	0.820613	D	0.91102	0.7199	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.997;0.999	D	0.85220	0.1026	9	.	.	.	-11.7983	17.7949	0.88567	0.0:1.0:0.0:0.0	.	839;906;924;905	P57737-2;B4DFD6;P57737;B4DKU9	.;.;CORO7_HUMAN;.	C	924;839;704	ENSP00000251166:W924C;ENSP00000446221:W704C	.	W	-	3	0	CORO7	4345288	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.169000	0.77578	2.297000	0.77311	0.591000	0.81541	TGG		0.657	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251628.2		NM_024535	Missense_Mutation
CPSF1	29894	broad.mit.edu	37	8	145626349	145626349	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:145626349C>A	ENST00000349769.3	-	6	602	c.508G>T	c.(508-510)Gct>Tct	p.A170S	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	170					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.A170S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGCTCCTCAGCCAGGCTCTCC	0.721																																					NSCLC(133;1088 1848 27708 34777 35269)												1	Substitution - Missense(1)	kidney(1)											26.0	28.0	27.0					8																	145626349		2202	4300	6502	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.508G>T	8.37:g.145626349C>A	ENSP00000339353:p.Ala170Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q96AF0	Missense_Mutation	SNP	ENST00000349769.3	37	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821491	0.32237	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.45276	0.9	4.86	4.86	0.63082	.	0.123243	0.56097	D	0.000039	T	0.33585	0.0868	L	0.41573	1.285	0.43782	D	0.996315	B;B;B	0.29232	0.016;0.238;0.018	B;B;B	0.31101	0.016;0.124;0.044	T	0.08229	-1.0732	10	0.09084	T	0.74	-0.0878	15.5403	0.76039	0.0:1.0:0.0:0.0	.	170;92;170	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	S	170	ENSP00000339353:A170S	ENSP00000339353:A170S	A	-	1	0	CPSF1	145597157	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	0.938000	0.28965	2.540000	0.85666	0.655000	0.94253	GCT		0.721	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291	
CYP11A1	1583	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	74636237	74636237	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr15:74636237A>G	ENST00000268053.6	-	4	876	c.722T>C	c.(721-723)tTc>tCc	p.F241S	CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000358632.4_Missense_Mutation_p.F83S|CYP11A1_ENST00000419019.2_Missense_Mutation_p.F83S	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	241					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.F241S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	GCTGGTGTGGAACATCTGGTA	0.562																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												1	Substitution - Missense(1)	kidney(1)											162.0	149.0	154.0					15																	74636237		2197	4296	6493	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.722T>C	15.37:g.74636237A>G	ENSP00000268053:p.Phe241Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	ENST00000268053.6	37	CCDS32291.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.65|18.65	3.670406|3.670406	0.67814|0.67814	.|.	.|.	ENSG00000140459|ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000450547|ENST00000452422	T;T;T|.	0.69561|.	-0.41;-0.41;-0.41|.	4.33|4.33	3.19|3.19	0.36642|0.36642	.|.	0.050184|.	0.85682|.	N|.	0.000000|.	T|T	0.75155|0.75155	0.3811|0.3811	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	T|T	0.75260|0.75260	-0.3380|-0.3380	10|6	0.87932|0.56958	D|D	0|0.05	-20.1281|-20.1281	9.3453|9.3453	0.38104|0.38104	0.9125:0.0:0.0875:0.0|0.9125:0.0:0.0875:0.0	.|.	211;241|.	B4DTE5;P05108|.	.;CP11A_HUMAN|.	S|P	241;83;83;153|7	ENSP00000268053:F241S;ENSP00000351455:F83S;ENSP00000405488:F83S|.	ENSP00000268053:F241S|ENSP00000391041:S7P	F|S	-|-	2|1	0|0	CYP11A1|CYP11A1	72423290|72423290	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.722000|0.722000	0.41435|0.41435	8.511000|8.511000	0.90535|0.90535	0.552000|0.552000	0.29026|0.29026	-0.416000|-0.416000	0.06073|0.06073	TTC|TCC		0.562	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319737.1			
DOCK3	1795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	51198060	51198060	+	Silent	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:51198060C>T	ENST00000266037.9	+	12	987	c.964C>T	c.(964-966)Cta>Tta	p.L322L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	322					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L322L(1)|p.L311L(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CTGTGCGGTCCTAAGCATCTT	0.468																																																	2	Substitution - coding silent(2)	kidney(2)											78.0	80.0	79.0					3																	51198060		2019	4184	6203	SO:0001819	synonymous_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.964C>T	3.37:g.51198060C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O15017	Silent	SNP	ENST00000266037.9	37	CCDS46835.1																																																																																				0.468	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5		NM_004947	
PCED1B	91523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	47629507	47629507	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:47629507G>A	ENST00000546455.1	+	4	1392	c.661G>A	c.(661-663)Gcg>Acg	p.A221T	PCED1B_ENST00000432328.1_Missense_Mutation_p.A221T|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	221							hydrolase activity (GO:0016787)	p.A221T(1)									CTTCCGCCACGCGAGGGAGAA	0.597																																																	1	Substitution - Missense(1)	kidney(1)											27.0	21.0	23.0					12																	47629507		2201	4297	6498	SO:0001583	missense	0			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.661G>A	12.37:g.47629507G>A	ENSP00000446688:p.Ala221Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96B20	Missense_Mutation	SNP	ENST00000546455.1	37	CCDS8752.1	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098704	0.37048	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000548348;ENST00000330951	T;T;T	0.18174	2.23;2.23;2.23	4.15	2.18	0.27775	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.534632	0.17084	N	0.187651	T	0.13200	0.0320	L	0.42245	1.32	0.09310	N	1	P	0.35208	0.49	B	0.33690	0.168	T	0.14587	-1.0467	10	0.51188	T	0.08	-18.2071	6.533	0.22338	0.1035:0.0:0.7039:0.1926	.	221	Q96HM7	F113B_HUMAN	T	221;221;101;101	ENSP00000446688:A221T;ENSP00000396040:A221T;ENSP00000448693:A101T	ENSP00000328560:A101T	A	+	1	0	FAM113B	45915774	0.006000	0.16342	0.009000	0.14445	0.016000	0.09150	1.319000	0.33655	0.596000	0.29794	0.655000	0.94253	GCG		0.597	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1		NM_138371	
FERMT2	10979	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53339598	53339598	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr14:53339598T>A	ENST00000395631.2	-	10	1408	c.1192A>T	c.(1192-1194)Acc>Tcc	p.T398S	FERMT2_ENST00000343279.4_Missense_Mutation_p.T398S|FERMT2_ENST00000553373.1_Missense_Mutation_p.T398S|FERMT2_ENST00000341590.3_Missense_Mutation_p.T398S|FERMT2_ENST00000399304.3_Missense_Mutation_p.T398S			Q96AC1	FERM2_HUMAN	fermitin family member 2	398	FERM.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.T398S(1)	ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					TCTTTGAAGGTGCACCAATAT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											198.0	171.0	180.0					14																	53339598		2203	4300	6503	SO:0001583	missense	10979			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1192A>T	14.37:g.53339598T>A	ENSP00000378993:p.Thr398Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B5TJY2|Q14840|Q86TY7	Missense_Mutation	SNP	ENST00000395631.2	37	CCDS9713.1	.	.	.	.	.	.	.	.	.	.	T	15.21	2.765877	0.49574	.	.	ENSG00000073712	ENST00000395631;ENST00000341590;ENST00000554152;ENST00000343279;ENST00000553373;ENST00000399304	T;T;T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96;-0.96;-0.96	5.95	5.95	0.96441	Band 4.1 domain (1);FERM central domain (2);Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	N	0.22421	0.69	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.16722	0.016;0.015;0.015	T	0.57631	-0.7778	10	0.15952	T	0.53	.	16.4323	0.83853	0.0:0.0:0.0:1.0	.	398;398;398	Q96AC1-2;Q96AC1;B5TJY2	.;FERM2_HUMAN;.	S	398;398;351;398;398;398	ENSP00000378993:T398S;ENSP00000340391:T398S;ENSP00000450741:T351S;ENSP00000342858:T398S;ENSP00000451084:T398S;ENSP00000382243:T398S	ENSP00000340391:T398S	T	-	1	0	FERMT2	52409348	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.207000	0.72159	2.281000	0.76405	0.528000	0.53228	ACC		0.408	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276907.2		NM_006832	
KLF8	11279	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	56310908	56310908	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chrX:56310908G>A	ENST00000468660.1	+	6	1349	c.1061G>A	c.(1060-1062)cGt>cAt	p.R354H	KLF8_ENST00000374928.3_3'UTR	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	354					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.R354H(2)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CTGCATCGCCGTCGCCATGAC	0.547																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											59.0	48.0	52.0					X																	56310908		2203	4300	6503	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.1061G>A	X.37:g.56310908G>A	ENSP00000417303:p.Arg354His	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	19.27	3.795820	0.70452	.	.	ENSG00000102349	ENST00000468660	T	0.71934	-0.61	3.93	3.93	0.45458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000007	D	0.82370	0.5022	M	0.74546	2.27	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.85008	0.0904	10	0.87932	D	0	.	13.3786	0.60754	0.0:0.0:1.0:0.0	.	354	O95600	KLF8_HUMAN	H	354	ENSP00000417303:R354H	ENSP00000417303:R354H	R	+	2	0	KLF8	56327633	0.998000	0.40836	0.997000	0.53966	0.745000	0.42441	4.259000	0.58828	1.938000	0.56188	0.597000	0.82753	CGT		0.547	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2		NM_007250	
KRT83	3889	hgsc.bcm.edu	37	12	52711741	52711743	+	In_Frame_Del	DEL	CTT	CTT	-	rs77331319|rs149269323	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr12:52711741_52711743delCTT	ENST00000293670.3	-	3	667_669	c.605_607delAAG	c.(604-609)gaagta>gta	p.E202del		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	202	Coil 1B.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CGAAGTGCTACTTCTTCTTCATA	0.537														87	0.0173722	0.062	0.0058	5008	,	,		19914	0.0		0.001	False		,,,				2504	0.0				GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												0										189,4075		7,175,1950						5.2	0.9		dbSNP_134	156	3,8249		0,3,4123	no	coding	KRT83	NM_002282.3		7,178,6073	A1A1,A1R,RR		0.0364,4.4325,1.534				192,12324				SO:0001651	inframe_deletion	3889			X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.605_607delAAG	12.37:g.52711747_52711749delCTT	ENSP00000293670:p.Glu202del	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4S9|B2RC21|Q6NT21|Q9NSB3	In_Frame_Del	DEL	ENST00000293670.3	37	CCDS8823.1																																																																																				0.537	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1		NM_002282	
KRTAP4-2	85291	broad.mit.edu;hgsc.bcm.edu	37	17	39334330	39334330	+	Silent	SNP	G	G	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr17:39334330G>T	ENST00000377726.2	-	1	130	c.87C>A	c.(85-87)acC>acA	p.T29T		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	29	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament (GO:0045095)		p.T146T(1)|p.T29T(1)		kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			TCCTGCAGCAGGTGGTCTGGC	0.647																																																	2	Substitution - coding silent(2)	kidney(2)											59.0	60.0	59.0					17																	39334330		2201	4296	6497	SO:0001819	synonymous_variant	85291			AJ406934	CCDS11384.1	17q21.2	2013-06-25			ENSG00000244537	ENSG00000244537		"""Keratin associated proteins"""	18900	protein-coding gene	gene with protein product						11279113	Standard	NM_033062		Approved	KAP4.2	uc002hwd.3	Q9BYR5	OTTHUMG00000133437	ENST00000377726.2:c.87C>A	17.37:g.39334330G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0JP64	Silent	SNP	ENST00000377726.2	37	CCDS11384.1																																																																																				0.647	KRTAP4-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257305.1			
MAP3K4	4216	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	161530934	161530934	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr6:161530934C>T	ENST00000392142.4	+	23	4532	c.4384C>T	c.(4384-4386)Cgt>Tgt	p.R1462C	MAP3K4_ENST00000366919.2_Missense_Mutation_p.R1412C|MAP3K4_ENST00000366920.2_Missense_Mutation_p.R1458C|MAP3K4_ENST00000348824.7_Missense_Mutation_p.R1408C	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1462	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.R1462C(1)|p.R1461C(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATAGTCCACCGTGACATTAA	0.552																																																	2	Substitution - Missense(2)	kidney(2)											149.0	123.0	132.0					6																	161530934		2203	4300	6503	SO:0001583	missense	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4384C>T	6.37:g.161530934C>T	ENSP00000375986:p.Arg1462Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Missense_Mutation	SNP	ENST00000392142.4	37	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588525	0.86851	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.02	4.11	0.48088	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.52565	0.1742	L	0.48877	1.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	T	0.57100	-0.7869	10	0.87932	D	0	-18.6037	13.101	0.59219	0.1597:0.8403:0.0:0.0	.	1458;398;1412;1462	F5H538;Q9P1M2;Q9Y6R4-2;Q9Y6R4	.;.;.;M3K4_HUMAN	C	1412;1462;1412;1458;1408	ENSP00000355886:R1412C;ENSP00000375986:R1462C;ENSP00000355887:R1458C;ENSP00000297332:R1408C	ENSP00000297332:R1408C	R	+	1	0	MAP3K4	161450924	1.000000	0.71417	0.915000	0.36163	0.987000	0.75469	3.802000	0.55553	2.324000	0.78689	0.655000	0.94253	CGT		0.552	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			
MASP1	5648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186947662	186947662	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr3:186947662G>A	ENST00000337774.5	-	11	1716	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	443					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)	p.R443W(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ATCAGCTTCCGGGAGAACTTG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											67.0	63.0	64.0					3																	186947662		2203	4300	6503	SO:0001583	missense	5648			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1327C>T	3.37:g.186947662G>A	ENSP00000336792:p.Arg443Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088790	0.76756	.	.	ENSG00000127241	ENST00000337774	D	0.93019	-3.15	5.7	2.44	0.29823	Peptidase cysteine/serine, trypsin-like (1);	.	.	.	.	D	0.93409	0.7898	L	0.55990	1.75	0.80722	D	1	D	0.64830	0.994	P	0.54270	0.747	D	0.92643	0.6126	9	0.59425	D	0.04	.	12.368	0.55240	0.0:0.0:0.3933:0.6067	.	443	P48740	MASP1_HUMAN	W	443	ENSP00000336792:R443W	ENSP00000336792:R443W	R	-	1	2	MASP1	188430356	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.413000	0.34725	0.840000	0.34995	-0.152000	0.13540	CGG		0.607	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1		NM_001879	
MRPS18B	28973	broad.mit.edu;hgsc.bcm.edu	37	6	30593435	30593435	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr6:30593435T>C	ENST00000259873.4	+	7	795	c.638T>C	c.(637-639)cTg>cCg	p.L213P	ATAT1_ENST00000330083.5_5'Flank|MRPS18B_ENST00000506373.2_3'UTR|ATAT1_ENST00000376483.4_5'Flank|ATAT1_ENST00000318999.7_5'Flank|ATAT1_ENST00000319027.5_5'Flank|ATAT1_ENST00000376478.2_5'Flank|ATAT1_ENST00000376485.4_5'Flank|ATAT1_ENST00000329992.8_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	213					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)	p.L213P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						GAGAGAGAACTGTCTCGCCTT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											107.0	118.0	114.0					6																	30593435		1510	2709	4219	SO:0001583	missense	28973			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.638T>C	6.37:g.30593435T>C	ENSP00000259873:p.Leu213Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	ENST00000259873.4	37	CCDS4682.1	.	.	.	.	.	.	.	.	.	.	T	15.61	2.884250	0.51908	.	.	ENSG00000204568	ENST00000259873;ENST00000376508	T	0.57907	0.37	5.43	5.43	0.79202	.	0.088969	0.47093	D	0.000248	T	0.63426	0.2510	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.68488	-0.5395	10	0.87932	D	0	.	13.0889	0.59156	0.0:0.0:0.0:1.0	.	170;213	Q5STN0;Q9Y676	.;RT18B_HUMAN	P	213;170	ENSP00000259873:L213P	ENSP00000259873:L213P	L	+	2	0	MRPS18B	30701414	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	5.146000	0.64845	2.279000	0.76181	0.533000	0.62120	CTG		0.607	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076584.2			
MTOR	2475	broad.mit.edu;hgsc.bcm.edu	37	1	11188177	11188177	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:11188177T>A	ENST00000361445.4	-	43	5993	c.5917A>T	c.(5917-5919)Atc>Ttc	p.I1973F	MTOR_ENST00000376838.1_Missense_Mutation_p.I178F	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1973	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.I1973F(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	AGTGGGTAGATGAGGGCCTGA	0.463																																																	1	Substitution - Missense(1)	kidney(1)											107.0	113.0	111.0					1																	11188177		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.5917A>T	1.37:g.11188177T>A	ENSP00000354558:p.Ile1973Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	T	29.0	4.965107	0.92855	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.80123	-0.27;-1.34	5.8	5.8	0.92144	PIK-related kinase (1);	0.000000	0.85682	D	0.000000	D	0.88621	0.6486	M	0.81497	2.545	0.80722	D	1	D	0.63046	0.992	P	0.58970	0.849	D	0.90198	0.4255	10	0.87932	D	0	-10.8404	16.1549	0.81657	0.0:0.0:0.0:1.0	.	1973	P42345	MTOR_HUMAN	F	1973;178	ENSP00000354558:I1973F;ENSP00000366034:I178F	ENSP00000354558:I1973F	I	-	1	0	MTOR	11110764	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.466000	0.80914	2.209000	0.71365	0.533000	0.62120	ATC		0.463	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1		NM_004958	
NINL	22981	hgsc.bcm.edu	37	20	25436414	25436421	+	Splice_Site	DEL	ATGTTCTT	ATGTTCTT	-	rs202186357		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	ATGTTCTT	ATGTTCTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr20:25436414_25436421delATGTTCTT	ENST00000278886.6	-	23	3918_3925	c.3845_3852delAAGAACAT	c.(3844-3852)gaagaacat>g	p.EEH1282fs	NINL_ENST00000422516.1_Splice_Site_p.EEH933fs|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1282					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGTTTCTCATGTTCTTCCTGCCATAA	0.543																																																	0																																										SO:0001630	splice_region_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3844-1AAGAACAT>-	20.37:g.25436414_25436421delATGTTCTT		Somatic		WXS	Illumina HiSeq	Phase_I	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Frame_Shift_Del	DEL	ENST00000278886.6	37	CCDS33452.1																																																																																				0.543	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3		NM_025176	Frame_Shift_Del
NLRP3	114548	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247586613	247586613	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:247586613A>G	ENST00000336119.3	+	2	1111	c.365A>G	c.(364-366)gAg>gGg	p.E122G	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366497.2_Missense_Mutation_p.E122G|NLRP3_ENST00000391827.2_Missense_Mutation_p.E122G|NLRP3_ENST00000391828.3_Missense_Mutation_p.E122G|NLRP3_ENST00000366496.2_Missense_Mutation_p.E122G|NLRP3_ENST00000348069.2_Missense_Mutation_p.E122G	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	122					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)	p.E122G(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGTTTACTGGAGTACCTTTCG	0.438																																																	1	Substitution - Missense(1)	kidney(1)											197.0	195.0	196.0					1																	247586613		2203	4300	6503	SO:0001583	missense	114548			AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.365A>G	1.37:g.247586613A>G	ENSP00000337383:p.Glu122Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	A	0.295	-0.977490	0.02197	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.74842	-0.8;-0.81;-0.8;-0.88;-0.81;-0.84	4.1	1.03	0.20045	.	0.874893	0.09712	N	0.765543	T	0.46795	0.1411	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.30534	-0.9975	10	0.31617	T	0.26	.	4.2426	0.10656	0.2125:0.19:0.5975:0.0	.	122;122;122;122;122	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	G	122	ENSP00000375704:E122G;ENSP00000355453:E122G;ENSP00000337383:E122G;ENSP00000294752:E122G;ENSP00000355452:E122G;ENSP00000375703:E122G	ENSP00000337383:E122G	E	+	2	0	NLRP3	245653236	0.002000	0.14202	0.001000	0.08648	0.006000	0.05464	0.235000	0.17948	0.280000	0.22209	-0.177000	0.13119	GAG		0.438	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895	
NOS3	4846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150698930	150698930	+	Silent	SNP	G	G	A	rs61734203	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:150698930G>A	ENST00000484524.1	+	12	1524	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	NOS3_ENST00000297494.3_Silent_p.S508S|NOS3_ENST00000461406.1_Silent_p.S302S|NOS3_ENST00000467517.1_Silent_p.S508S	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S508S(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCTCCGCCTCGCTCATGGGCA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)						G	,,,	1,4405	2.1+/-5.4	0,1,2202	55.0	54.0	54.0		1524,1524,1524,1524	-9.6	0.6	7	dbSNP_129	54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NOS3	NM_000603.4,NM_001160109.1,NM_001160110.1,NM_001160111.1	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	508/1204,508/597,508/615,508/630	150698930	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1524G>A	7.37:g.150698930G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q495E5	Silent	SNP	ENST00000484524.1	37	CCDS55182.1																																																																																				0.657	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1		NM_000603	
PCDH20	64881	broad.mit.edu;ucsc.edu	37	13	61986058	61986058	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr13:61986058G>A	ENST00000409186.1	-	5	4279	c.2174C>T	c.(2173-2175)aCa>aTa	p.T725I	PCDH20_ENST00000409204.4_Missense_Mutation_p.T725I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	725	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.T725I(1)|p.T698I(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GATTTTTGCTGTAGAGGAGAG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											112.0	117.0	115.0					13																	61986058		2203	4300	6503	SO:0001583	missense	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2174C>T	13.37:g.61986058G>A	ENSP00000386653:p.Thr725Ile	Somatic		WXS	Illumina GAIIx	Phase_I	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	G	9.940	1.217167	0.22373	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.02890	4.12;4.12	5.94	5.09	0.68999	.	0.087176	0.49916	D	0.000135	T	0.05731	0.0150	M	0.68728	2.09	0.44728	D	0.997721	B	0.06786	0.001	B	0.10450	0.005	T	0.10590	-1.0623	10	0.62326	D	0.03	.	14.5548	0.68094	0.0696:0.0:0.9304:0.0	.	725	A8K1K9	.	I	725;725;471	ENSP00000387250:T725I;ENSP00000386653:T725I	ENSP00000351500:T471I	T	-	2	0	PCDH20	60884059	1.000000	0.71417	0.905000	0.35620	0.974000	0.67602	5.071000	0.64382	2.812000	0.96745	0.557000	0.71058	ACA		0.443	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2		NM_022843	
PCDHB16	57717	broad.mit.edu;hgsc.bcm.edu	37	5	140563511	140563511	+	Silent	SNP	C	C	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:140563511C>T	ENST00000361016.2	+	1	2532	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	459	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F459F(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACACCCTGTTCGTCCGCGAGA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	100.0	101.0					5																	140563511		2203	4300	6503	SO:0001819	synonymous_variant	57717			AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1377C>T	5.37:g.140563511C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Silent	SNP	ENST00000361016.2	37	CCDS4251.1																																																																																				0.582	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		NM_020957	
PCF11	51585	broad.mit.edu;ucsc.edu	37	11	82878246	82878246	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr11:82878246T>C	ENST00000298281.4	+	6	2349	c.1897T>C	c.(1897-1899)Tca>Cca	p.S633P		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	633					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.S732P(1)|p.S633P(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGGAATTTTATCACCTCGAGC	0.408																																																	2	Substitution - Missense(2)	kidney(2)											118.0	115.0	116.0					11																	82878246		1945	4146	6091	SO:0001583	missense	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1897T>C	11.37:g.82878246T>C	ENSP00000298281:p.Ser633Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A6H8W7|O43671|Q6P0X8	Missense_Mutation	SNP	ENST00000298281.4	37	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	T	17.90	3.501503	0.64298	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	T;T;T	0.52057	1.67;0.72;0.68	5.98	5.98	0.97165	.	0.000000	0.47852	D	0.000204	T	0.53948	0.1828	L	0.29908	0.895	0.41346	D	0.987336	D;D	0.71674	0.998;0.995	P;P	0.60682	0.878;0.852	T	0.51100	-0.8748	9	.	.	.	.	16.4696	0.84102	0.0:0.0:0.0:1.0	.	633;633	E9PQ01;O94913	.;PCF11_HUMAN	P	633	ENSP00000298281:S633P;ENSP00000434540:S633P;ENSP00000431567:S633P	.	S	+	1	0	PCF11	82555894	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	4.487000	0.60293	2.289000	0.77006	0.482000	0.46254	TCA		0.408	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2		NM_015885	
PCSK2	5126	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	17462428	17462428	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr20:17462428G>A	ENST00000262545.2	+	12	1945	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	PCSK2_ENST00000536609.1_Missense_Mutation_p.D509N|PCSK2_ENST00000377899.1_Missense_Mutation_p.D525N|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	544					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D544N(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGGGATGACGACTCCAAGGT	0.577																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											86.0	70.0	75.0					20																	17462428		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1630G>A	20.37:g.17462428G>A	ENSP00000262545:p.Asp544Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.046013	0.93685	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.63913	-0.07;-0.07;-0.07	5.63	5.63	0.86233	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.69248	2.105	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.635	D;D;B	0.97110	1.0;1.0;0.362	T	0.77461	-0.2579	10	0.49607	T	0.09	-49.3395	18.6061	0.91266	0.0:0.0:1.0:0.0	.	509;525;544	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	N	525;544;509	ENSP00000367131:D525N;ENSP00000262545:D544N;ENSP00000437458:D509N	ENSP00000262545:D544N	D	+	1	0	PCSK2	17410428	1.000000	0.71417	0.988000	0.46212	0.973000	0.67179	9.773000	0.98989	2.803000	0.96430	0.585000	0.79938	GAC		0.577	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2		NM_002594	
RYR1	6261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38949888	38949888	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr19:38949888G>A	ENST00000359596.3	+	19	2270	c.2270G>A	c.(2269-2271)cGc>cAc	p.R757H	RYR1_ENST00000355481.4_Missense_Mutation_p.R757H|RYR1_ENST00000360985.3_Missense_Mutation_p.R757H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	757	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)	p.R757H(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	ATCTCCTTCCGCATCAACGGC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											119.0	96.0	104.0					19																	38949888		2203	4300	6503	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2270G>A	19.37:g.38949888G>A	ENSP00000352608:p.Arg757His	Somatic		WXS	Illumina HiSeq	Phase_I	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	g	18.79	3.699825	0.68501	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	T;T;T	0.69306	-0.39;-0.39;-0.39	4.36	4.36	0.52297	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	U	0.000002	T	0.79764	0.4502	M	0.64567	1.98	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	T	0.82460	-0.0446	10	0.72032	D	0.01	.	16.6928	0.85326	0.0:0.0:1.0:0.0	.	757;757	P21817-2;P21817	.;RYR1_HUMAN	H	757	ENSP00000352608:R757H;ENSP00000347667:R757H;ENSP00000354254:R757H	ENSP00000347667:R757H	R	+	2	0	RYR1	43641728	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	9.657000	0.98554	2.251000	0.74343	0.457000	0.33378	CGC		0.612	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237947421	237947421	+	Missense_Mutation	SNP	G	G	A	rs267598439		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:237947421G>A	ENST00000366574.2	+	90	12726	c.12409G>A	c.(12409-12411)Gaa>Aaa	p.E4137K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4121K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E4143K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4137					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E4135K(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGCCGCATCGAAATCATGGG	0.512																																																	1	Substitution - Missense(1)	kidney(1)											69.0	70.0	70.0					1																	237947421		1911	4136	6047	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12409G>A	1.37:g.237947421G>A	ENSP00000355533:p.Glu4137Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	33	5.272038	0.95429	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97941	-4.62;-4.62;-4.62	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000005	D	0.98629	0.9541	M	0.75615	2.305	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.991;0.995	D	0.99814	1.1043	10	0.87932	D	0	.	19.4843	0.95024	0.0:0.0:1.0:0.0	.	1111;4137	B4DGV4;Q92736	.;RYR2_HUMAN	K	4137;4143;4121;1111	ENSP00000355533:E4137K;ENSP00000353174:E4143K;ENSP00000443798:E4121K	ENSP00000353174:E4143K	E	+	1	0	RYR2	236014044	1.000000	0.71417	0.990000	0.47175	0.965000	0.64279	9.813000	0.99286	2.610000	0.88304	0.655000	0.94253	GAA		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SMURF1	57154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	98639741	98639741	+	Splice_Site	SNP	G	G	C	rs138664041		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:98639741G>C	ENST00000361125.1	-	13	1768	c.1449C>G	c.(1447-1449)ccC>ccG	p.P483P	SMURF1_ENST00000361368.2_Splice_Site_p.P457P|AC004893.11_ENST00000468960.2_RNA	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	483	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of ossification (GO:0030279)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein export from nucleus (GO:0006611)|protein localization to cell surface (GO:0034394)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	activin binding (GO:0048185)|I-SMAD binding (GO:0070411)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)	p.P483P(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TCATACTTACGGGGTTGATTG	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											92.0	88.0	89.0					7																	98639741		2203	4300	6503	SO:0001630	splice_region_variant	57154			AB046845	CCDS34689.1, CCDS34690.1	7q21.1-q31.1	2004-07-29			ENSG00000198742	ENSG00000198742			16807	protein-coding gene	gene with protein product		605568				10458166	Standard	NM_020429		Approved	KIAA1625	uc003upu.2	Q9HCE7	OTTHUMG00000150272	ENST00000361125.1:c.1449+1C>G	7.37:g.98639741G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D279|B7ZMB6|B9EGV3|O75853|Q547Q3|Q9UJT8	Silent	SNP	ENST00000361125.1	37	CCDS34690.1																																																																																				0.383	SMURF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000335001.2		NM_020429	Silent
SRSF11	9295	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70712550	70712550	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr1:70712550A>G	ENST00000370950.3	+	10	1064	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000405432.1_Missense_Mutation_p.K328E|SRSF11_ENST00000370949.1_Missense_Mutation_p.K268E|SRSF11_ENST00000370951.1_Missense_Mutation_p.K328E			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	328	10 X 8 AA approximate repeats of R-R-S-R- S-R-S-R.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K328E(1)		large_intestine(3)|ovary(2)|skin(1)	6						AACACCACCAAAAAGTTACAG	0.358																																																	1	Substitution - Missense(1)	kidney(1)											149.0	140.0	143.0					1																	70712550		2203	4300	6503	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.982A>G	1.37:g.70712550A>G	ENSP00000359988:p.Lys328Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T758|Q8IWE6	Missense_Mutation	SNP	ENST00000370950.3	37	CCDS647.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.921013	0.73213	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	D;D;D;D;T	0.97256	-1.93;-1.93;-1.93;-4.31;-0.63	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.97888	0.9306	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.67145	0.996;0.993;0.993;0.993	D;D;D;D	0.76071	0.987;0.971;0.971;0.971	D	0.98360	1.0548	10	0.52906	T	0.07	.	15.9562	0.79889	1.0:0.0:0.0:0.0	.	268;328;328;328	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	E	328;328;328;328;268	ENSP00000359989:K328E;ENSP00000359988:K328E;ENSP00000384357:K328E;ENSP00000378568:K328E;ENSP00000359987:K268E	ENSP00000359987:K268E	K	+	1	0	SRSF11	70485138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.831000	0.92068	2.253000	0.74438	0.455000	0.32223	AAA		0.358	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1		NM_004768	
SYNPO	11346	hgsc.bcm.edu	37	5	150028961	150028962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr5:150028961_150028962insC	ENST00000394243.1	+	3	2230_2231	c.1856_1857insC	c.(1855-1860)ggcagcfs	p.S620fs	SYNPO_ENST00000519664.1_Frame_Shift_Ins_p.S376fs|SYNPO_ENST00000522122.1_Frame_Shift_Ins_p.S620fs|SYNPO_ENST00000307662.4_Frame_Shift_Ins_p.S376fs	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	620					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCCGCCGGGGCAGCCGCAAAT	0.599																																																	0																																										SO:0001589	frameshift_variant	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1857dupC	5.37:g.150028962_150028962dupC	ENSP00000377789:p.Ser620fs	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKZ8|D3DQG8|O15271|Q9UPX1	Frame_Shift_Ins	INS	ENST00000394243.1	37	CCDS54937.1																																																																																				0.599	SYNPO-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252371.1		NM_007286	
TBC1D12	23232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	96291127	96291127	+	Silent	SNP	A	A	G			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr10:96291127A>G	ENST00000225235.4	+	12	2279	c.2169A>G	c.(2167-2169)ctA>ctG	p.L723L	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	723							Rab GTPase activator activity (GO:0005097)	p.L723L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CACAGTTTCTAACTAAATTGC	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	98.0	100.0					10																	96291127		1845	4094	5939	SO:0001819	synonymous_variant	23232			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2169A>G	10.37:g.96291127A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Silent	SNP	ENST00000225235.4	37	CCDS41553.1																																																																																				0.383	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049482.2			
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179397153	179397153	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:179397153G>A	ENST00000591111.1	-	308	99490	c.99266C>T	c.(99265-99267)aCc>aTc	p.T33089I	TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25790I|TTN_ENST00000460472.2_Missense_Mutation_p.T25665I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25857I|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34730I|TTN_ENST00000342992.6_Missense_Mutation_p.T32162I|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA			Q8WZ42	TITIN_HUMAN	titin	33089					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T32160I(1)|p.T32162I(1)|p.T25857I(1)|p.T25665I(1)|p.T25790I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGATAGGTTGAATACCT	0.488																																																	5	Substitution - Missense(5)	kidney(5)											210.0	196.0	200.0					2																	179397153		1983	4149	6132	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.99266C>T	2.37:g.179397153G>A	ENSP00000465570:p.Thr33089Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	14.95	2.688190	0.48097	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;0.15;0.13;0.12	5.93	5.05	0.67936	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.46964	0.1420	N	0.08118	0	0.32390	N	0.553429	P;P;P;P	0.45902	0.651;0.651;0.868;0.791	B;B;B;B	0.42319	0.198;0.198;0.383;0.198	T	0.62129	-0.6919	9	0.87932	D	0	.	15.6955	0.77494	0.0:0.3729:0.6271:0.0	.	25665;25790;25857;33089	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	32162;25665;25857;25790;25662	ENSP00000343764:T32162I;ENSP00000434586:T25665I;ENSP00000340554:T25857I;ENSP00000352154:T25790I	ENSP00000340554:T25857I	T	-	2	0	TTN	179105399	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.671000	0.54576	1.487000	0.48415	0.655000	0.94253	ACC		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UNC5D	137970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	35631934	35631934	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr8:35631934G>A	ENST00000404895.2	+	16	2924	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	UNC5D_ENST00000420357.1_Missense_Mutation_p.D799N|UNC5D_ENST00000416672.1_Missense_Mutation_p.D871N|UNC5D_ENST00000453357.2_Missense_Mutation_p.D861N|UNC5D_ENST00000449677.1_Missense_Mutation_p.D442N|UNC5D_ENST00000287272.2_Missense_Mutation_p.D797N	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	866	Death.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.D861N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCTACATTTGATACCCCCAA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											125.0	113.0	117.0					8																	35631934		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2596G>A	8.37:g.35631934G>A	ENSP00000385143:p.Asp866Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WYP7	Missense_Mutation	SNP	ENST00000404895.2	37	CCDS6093.2	.	.	.	.	.	.	.	.	.	.	G	36	5.637462	0.96693	.	.	ENSG00000156687	ENST00000404895;ENST00000420357;ENST00000287272;ENST00000416672;ENST00000453357;ENST00000449677	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	5.95	5.95	0.96441	Death (2);DEATH-like (2);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.82323	2.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.935;0.961	T	0.60469	-0.7257	10	0.87932	D	0	-28.2237	20.4024	0.99000	0.0:0.0:1.0:0.0	.	442;861;866	E9PDS8;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	N	866;799;797;871;861;442	ENSP00000385143:D866N;ENSP00000392739:D799N;ENSP00000287272:D797N;ENSP00000412652:D871N;ENSP00000394303:D861N;ENSP00000397211:D442N	ENSP00000287272:D797N	D	+	1	0	UNC5D	35751476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.864000	0.99589	2.827000	0.97445	0.650000	0.86243	GAT		0.478	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12071445	12071445	+	Silent	SNP	G	G	A			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr10:12071445G>A	ENST00000356352.2	-	2	917	c.444C>T	c.(442-444)aaC>aaT	p.N148N	UPF2_ENST00000357604.5_Silent_p.N148N|UPF2_ENST00000397053.2_Silent_p.N148N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	148					gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.N148N(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GAGCATTTTGGTTTTTGCTAC	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											96.0	107.0	103.0					10																	12071445		2199	4292	6491	SO:0001819	synonymous_variant	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.444C>T	10.37:g.12071445G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Silent	SNP	ENST00000356352.2	37	CCDS7086.1																																																																																				0.368	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
ZFHX3	463	hgsc.bcm.edu	37	16	72821621	72821621	+	Silent	SNP	G	G	A	rs369119448|rs566462936	byFrequency	TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr16:72821621G>A	ENST00000268489.5	-	10	11226	c.10554C>T	c.(10552-10554)ggC>ggT	p.G3518G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2604G|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	3518	Poly-Gly.				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)				cgccgccaccgccgccgccgc	0.711													G|||	415	0.0828674	0.0567	0.1801	5008	,	,		5282	0.1766		0.004	False		,,,				2504	0.0337																0													7.0	11.0	10.0					16																	72821621		1466	3147	4613	SO:0001819	synonymous_variant	463			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.10554C>T	16.37:g.72821621G>A		Somatic		WXS	Illumina HiSeq	Phase_I	D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.711	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1		NM_006885	
ZNF385B	151126	broad.mit.edu;hgsc.bcm.edu	37	2	180308134	180308134	+	Missense_Mutation	SNP	G	G	C	rs371958237		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr2:180308134G>C	ENST00000410066.1	-	10	1862	c.1259C>G	c.(1258-1260)cCt>cGt	p.P420R	ZNF385B_ENST00000336917.5_Missense_Mutation_p.P318R|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Missense_Mutation_p.P344R|ZNF385B_ENST00000409692.1_Missense_Mutation_p.P318R	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	420	Interaction with p53/TP53.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)	p.P420R(1)		breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CGCTGCGAGAGGTGAGGACAG	0.597																																					Colon(155;204 2491 32774 51842)												1	Substitution - Missense(1)	kidney(1)						G	ARG/PRO,ARG/PRO,ARG/PRO	0,4402		0,0,2201	29.0	37.0	34.0		1031,953,1259	4.6	1.0	2		34	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZNF385B	NM_001113397.1,NM_001113398.1,NM_152520.4	103,103,103	0,1,6499	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	344/396,318/370,420/472	180308134	1,12999	2201	4299	6500	SO:0001583	missense	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.1259C>G	2.37:g.180308134G>C	ENSP00000386845:p.Pro420Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.093153	0.36952	0.0	1.16E-4	ENSG00000144331	ENST00000410066;ENST00000336917;ENST00000409343;ENST00000409692	T;T;T;T	0.38240	1.15;1.24;1.18;1.24	5.49	4.61	0.57282	.	0.051751	0.85682	D	0.000000	T	0.57154	0.2034	M	0.64997	1.995	0.80722	D	1	P;D	0.89917	0.917;1.0	P;D	0.91635	0.603;0.999	T	0.61337	-0.7083	10	0.87932	D	0	-17.7094	14.3095	0.66407	0.0714:0.0:0.9286:0.0	.	420;344	Q569K4;Q569K4-2	Z385B_HUMAN;.	R	420;318;344;318	ENSP00000386845:P420R;ENSP00000338225:P318R;ENSP00000386379:P344R;ENSP00000386507:P318R	ENSP00000338225:P318R	P	-	2	0	ZNF385B	180016379	1.000000	0.71417	0.980000	0.43619	0.100000	0.18952	6.225000	0.72271	1.312000	0.45043	-0.258000	0.10820	CCT		0.597	ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1		NM_152520	
ZNF628	89887	broad.mit.edu	37	19	55994427	55994427	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr19:55994427A>C	ENST00000598519.1	+	3	2420	c.1867A>C	c.(1867-1869)Acc>Ccc	p.T623P	NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.T619P|NAT14_ENST00000205194.4_5'Flank|NAT14_ENST00000587400.1_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	623					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)	p.T619P(2)		endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		GCGCCCCTTCACCTGCCCCAT	0.711																																																	2	Substitution - Missense(2)	kidney(2)											26.0	28.0	27.0					19																	55994427		2203	4297	6500	SO:0001583	missense	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1867A>C	19.37:g.55994427A>C	ENSP00000469591:p.Thr623Pro	Somatic		WXS	Illumina GAIIx	Phase_I	Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	9.458	1.092370	0.20471	.	.	ENSG00000197483	ENST00000391718	T	0.18338	2.22	3.91	-4.53	0.03462	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.980252	0.08264	U	0.972617	T	0.08358	0.0208	N	0.16233	0.39	0.21445	N	0.999686	B	0.26483	0.15	B	0.24006	0.05	T	0.35076	-0.9803	10	0.62326	D	0.03	-3.9176	4.0986	0.10004	0.4975:0.0:0.2207:0.2819	.	619	Q5EBL2	ZN628_HUMAN	P	619	ENSP00000375598:T619P	ENSP00000375598:T619P	T	+	1	0	ZNF628	60686239	0.000000	0.05858	0.124000	0.21820	0.343000	0.28985	-0.189000	0.09629	-0.886000	0.03966	-1.237000	0.01550	ACC		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2		XM_058964	
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					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.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																																	2	Substitution - coding silent(2)	kidney(2)											25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				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.996G>C	19.37:g.58385762C>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NF35	Silent	SNP	ENST00000435989.2	37	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1		XM_001725708	
ZNHIT1	10467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100867049	100867049	+	Silent	SNP	A	A	T			TCGA-B0-5100-01A-01D-1421-08	TCGA-B0-5100-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b20bd619-59c9-4e2a-8e64-7bb44eaa75ce	adfc66d6-8278-4574-890d-cb2bb82be8e5	g.chr7:100867049A>T	ENST00000305105.2	+	4	897	c.369A>T	c.(367-369)ccA>ccT	p.P123P	ZNHIT1_ENST00000492315.1_3'UTR	NM_006349.2	NP_006340.1	O43257	ZNHI1_HUMAN	zinc finger, HIT-type containing 1	123					negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of histone deacetylation (GO:0031063)|regulation of T cell proliferation (GO:0042129)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)	p.P123P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)	11	Lung NSC(181;0.168)|all_lung(186;0.215)					GTGGCTTCCCATCCCCCTACA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	60.0	61.0					7																	100867049		2203	4300	6503	SO:0001819	synonymous_variant	10467			AF093571	CCDS5716.1	7q22.1	2010-09-15	2010-09-15	2003-08-08	ENSG00000106400	ENSG00000106400		"""Zinc fingers, HIT-type"""	21688	protein-coding gene	gene with protein product	"""putative cyclin G1 interacting protein"""		"""zinc finger protein, subfamily 4A (HIT domain containing), member 1"", ""zinc finger, HIT domain containing 1"""	ZNFN4A1			Standard	NM_006349		Approved	CG1I, H_DJ0747G18.14	uc003uye.3	O43257	OTTHUMG00000157113	ENST00000305105.2:c.369A>T	7.37:g.100867049A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IB12	Silent	SNP	ENST00000305105.2	37	CCDS5716.1																																																																																				0.652	ZNHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347488.1		NM_006349	
