#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
NBPF10	100132406	broad.mit.edu	37	1	145324371	145324371	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:145324371T>C	ENST00000342960.5	+	28	3601	c.3566T>C	c.(3565-3567)gTa>gCa	p.V1189A	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	776						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTGCTGGAGGTAGTAGCGCCT	0.498																																						uc021oul.1																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(3565-3567)gTa>gCa		Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.																																				SO:0001583	missense	100132406							g.chr1:145324371T>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3566T>C	1.37:g.145324371T>C	ENSP00000345684:p.Val1189Ala					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Non-coding_Transcript	p.V1189A	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	27	3601	+	all_hematologic(923;0.032)		1189					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.3566T>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.402480	0.00195	.	.	ENSG00000163386	ENST00000342960	T	0.06218	3.33	.	.	.	.	.	.	.	.	T	0.01189	0.0039	L	0.31476	0.935	0.09310	N	1	.	.	.	.	.	.	T	0.45804	-0.9236	5	0.07482	T	0.82	.	.	.	.	.	.	.	.	A	1189	ENSP00000345684:V1189A	ENSP00000345684:V1189A	V	+	2	0	NBPF10	144035728	0.000000	0.05858	0.004000	0.12327	0.000000	0.00434	-1.639000	0.02011	0.493000	0.27837	0.000000	0.15137	GTA		0.498	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
USH2A	7399	broad.mit.edu	37	1	215820917	215820917	+	Missense_Mutation	SNP	T	T	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:215820917T>C	ENST00000307340.3	-	67	15124	c.14738A>G	c.(14737-14739)aAc>aGc	p.N4913S	USH2A_ENST00000366943.2_Missense_Mutation_p.N4913S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4913	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCCACCTCGTTGTGTGCCAC	0.532										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(14737-14739)aAc>aGc		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							99.0	81.0	87.0					1																	215820917		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215820917T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14738A>G	1.37:g.215820917T>C	ENSP00000305941:p.Asn4913Ser	HNSCC(13;0.011)					p.N4913S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	15125	-			4913			Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.14738A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.307185	0.81247	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59502	0.26;0.26	5.62	3.3	0.37823	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000256	T	0.62901	0.2466	M	0.87038	2.855	0.45621	D	0.998558	P	0.36753	0.568	B	0.41332	0.354	T	0.64854	-0.6309	10	0.56958	D	0.05	.	7.8388	0.29387	0.0:0.0719:0.1399:0.7882	.	4913	O75445	USH2A_HUMAN	S	4913	ENSP00000305941:N4913S;ENSP00000355910:N4913S	ENSP00000305941:N4913S	N	-	2	0	USH2A	213887540	1.000000	0.71417	0.965000	0.40720	0.988000	0.76386	4.727000	0.61993	0.937000	0.37394	0.528000	0.53228	AAC		0.532	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
TAF1A	9015	broad.mit.edu	37	1	222761835	222761835	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:222761835C>G	ENST00000352967.4	-	2	259	c.71G>C	c.(70-72)aGt>aCt	p.S24T	TAF1A_ENST00000391882.1_5'UTR|RP11-378J18.3_ENST00000427540.1_RNA|TAF1A_ENST00000350027.4_Missense_Mutation_p.S24T|RP11-378J18.3_ENST00000441835.1_RNA|TAF1A_ENST00000543857.1_Missense_Mutation_p.S24T|RP11-378J18.3_ENST00000413074.1_RNA|TAF1A_ENST00000366890.1_5'UTR|TAF1A_ENST00000465263.1_5'UTR	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	24					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCCTGCACCACTGAGCACAGA	0.373																																						uc009xdz.2																			0				kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18						c.(70-72)aGt>aCt		Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.							202.0	188.0	193.0					1																	222761835		2203	4300	6503	SO:0001583	missense	9015				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding	g.chr1:222761835C>G	L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.71G>C	1.37:g.222761835C>G	ENSP00000327072:p.Ser24Thr					TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.S24T|TAF1A_uc010pur.2_Missense_Mutation_p.S24T	p.S24T	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN		GBM - Glioblastoma multiforme(131;0.0186)	1	280	-			24					B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	c.71G>C	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	C	4.831	0.154520	0.09236	.	.	ENSG00000143498	ENST00000350027;ENST00000352967;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.9	4.99	0.66335	.	0.991069	0.08239	N	0.976349	T	0.36799	0.0980	L	0.42686	1.345	0.09310	N	1	B;B	0.14438	0.003;0.01	B;B	0.17098	0.006;0.017	T	0.33803	-0.9854	10	0.08381	T	0.77	-12.6341	13.1621	0.59550	0.0:0.1619:0.8381:0.0	.	24;24	B4DS21;Q15573	.;TAF1A_HUMAN	T	24	ENSP00000339976:S24T;ENSP00000327072:S24T;ENSP00000375755:S24T;ENSP00000437725:S24T	ENSP00000339976:S24T	S	-	2	0	TAF1A	220828458	0.518000	0.26234	0.156000	0.22583	0.078000	0.17371	2.830000	0.48136	1.503000	0.48686	-0.133000	0.14855	AGT		0.373	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2	NM_005681	
OR2L13	284521	broad.mit.edu	37	1	248154337	248154337	+	Intron	SNP	T	T	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:248154337T>A	ENST00000366478.2	+	1	194					NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCTTTGCTTATACCTATCTAC	0.512																																						uc001idv.1																			0				lung(11)	11						c.(523-525)taT>taA		Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.																																				SO:0001627	intron_variant	26247							g.chr1:248154337T>A	BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000366478.2:c.-144+53651T>A	1.37:g.248154337T>A						OR2L13_uc001ids.3_Intron	p.Y175*							0	769	+								Q5VUR5	Nonsense_Mutation	SNP	ENST00000366478.2	37	c.525T>A	CCDS1637.1																																																																																				0.512	OR2L13-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_175911	
LGALS12	85329	broad.mit.edu	37	11	63273794	63273794	+	5'UTR	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:63273794C>T	ENST00000394618.3	+	0	221				LGALS12_ENST00000415491.2_5'Flank|LGALS12_ENST00000425950.2_5'Flank|LGALS12_ENST00000340246.5_5'Flank|LGALS12_ENST00000255684.5_5'UTR	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12						intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCATTAAAACGCTGCAGGTC	0.637																																						uc001nxc.2																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16								Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.																																				SO:0001623	5_prime_UTR_variant	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63273794C>T	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.-71C>T	11.37:g.63273794C>T						LGALS12_uc001nxa.2_5'UTR|LGALS12_uc001nxb.2_5'UTR|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank		NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN			0		+								B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Translation_Start_Site	SNP	ENST00000394618.3	37		CCDS8045.1																																																																																				0.637	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101	
ARCN1	372	broad.mit.edu	37	11	118461139	118461139	+	Missense_Mutation	SNP	T	T	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:118461139T>A	ENST00000264028.4	+	6	997	c.902T>A	c.(901-903)aTc>aAc	p.I301N	ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.I342N|ARCN1_ENST00000392859.3_Missense_Mutation_p.I213N	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	301	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CATGGCATGATCATGCTTAGG	0.393																																						uc009zag.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13						c.(1024-1026)aTc>aAc		Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.							160.0	138.0	145.0					11																	118461139		2200	4295	6495	SO:0001583	missense	372				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol		g.chr11:118461139T>A	X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.902T>A	11.37:g.118461139T>A	ENSP00000264028:p.Ile301Asn					ARCN1_uc001ptq.3_Missense_Mutation_p.I301N|ARCN1_uc010ryg.2_Missense_Mutation_p.I213N	p.I342N	NM_001142281	NP_001135753	P48444	COPD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	6	1227	+	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)	301			MHD.		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	ENST00000264028.4	37	c.1025T>A	CCDS8400.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.730163	0.89390	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.33438	1.41;1.41;1.41	5.86	5.86	0.93980	Clathrin adaptor, mu subunit, C-terminal (3);	0.093339	0.64402	D	0.000001	T	0.51075	0.1653	L	0.56769	1.78	0.80722	D	1	D;D;P	0.59767	0.986;0.971;0.937	D;P;P	0.64321	0.924;0.876;0.672	T	0.51741	-0.8667	10	0.87932	D	0	-6.2803	16.2215	0.82262	0.0:0.0:0.0:1.0	.	213;342;301	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	N	213;342;301	ENSP00000376599:I213N;ENSP00000352385:I342N;ENSP00000264028:I301N	ENSP00000264028:I301N	I	+	2	0	ARCN1	117966349	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.315000	0.78998	2.367000	0.80283	0.528000	0.53228	ATC		0.393	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389278.1		
KIF21A	55605	broad.mit.edu	37	12	39716483	39716483	+	Missense_Mutation	SNP	T	T	C	rs147620197		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr12:39716483T>C	ENST00000361418.5	-	27	3673	c.3658A>G	c.(3658-3660)Aag>Gag	p.K1220E	KIF21A_ENST00000547745.1_5'Flank|KIF21A_ENST00000361961.3_Missense_Mutation_p.K1207E|KIF21A_ENST00000544797.2_Missense_Mutation_p.K1200E|KIF21A_ENST00000541463.2_Missense_Mutation_p.K1184E|KIF21A_ENST00000395670.3_Missense_Mutation_p.K1220E			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1220					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCCTATCTTAGAAGGTAAG	0.398																																						uc001rly.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.(3658-3660)Aag>Gag		Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.		T	GLU/LYS,GLU/LYS,GLU/LYS,GLU/LYS	0,4406		0,0,2203	110.0	101.0	104.0		3598,3658,3550,3619	3.9	1.0	12	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	KIF21A	NM_001173463.1,NM_001173464.1,NM_001173465.1,NM_017641.3	56,56,56,56	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1200/1638,1220/1675,1184/1622,1207/1662	39716483	1,13005	2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39716483T>C	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.3658A>G	12.37:g.39716483T>C	ENSP00000354878:p.Lys1220Glu					KIF21A_uc001rlv.3_Missense_Mutation_p.K225E|KIF21A_uc001rlw.3_Missense_Mutation_p.K537E|KIF21A_uc001rlx.3_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.3_Missense_Mutation_p.K1184E|KIF21A_uc010skl.2_Missense_Mutation_p.K1200E	p.K1220E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN			26	4078	-		Lung NSC(34;0.179)|all_lung(34;0.213)	1220					A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.3658A>G	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306566	0.60305	0.0	1.16E-4	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000545778;ENST00000551264;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T;T	0.71222	-0.53;-0.51;0.37;-0.55;-0.42;-0.5	5.09	3.92	0.45320	.	0.107759	0.40818	N	0.001014	T	0.77445	0.4131	L	0.47716	1.5	0.35269	D	0.78029	D;B;P;D;B;B	0.61697	0.972;0.018;0.749;0.99;0.033;0.023	P;B;B;D;B;B	0.72982	0.673;0.034;0.146;0.979;0.061;0.017	T	0.80688	-0.1271	10	0.39692	T	0.17	.	12.1554	0.54074	0.0:0.0:0.1428:0.8572	.	1200;1184;1220;1207;1220;267	F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3;F5H0V8	.;.;KI21A_HUMAN;.;.;.	E	1207;1220;1220;267;261;1200;1220;1184	ENSP00000354851:K1207E;ENSP00000379029:K1220E;ENSP00000448792:K261E;ENSP00000445606:K1200E;ENSP00000354878:K1220E;ENSP00000438075:K1184E	ENSP00000344501:K1220E	K	-	1	0	KIF21A	38002750	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.768000	0.68858	0.746000	0.32786	0.533000	0.62120	AAG		0.398	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	
F10	2159	broad.mit.edu	37	13	113803697	113803697	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr13:113803697C>T	ENST00000375559.3	+	8	1371	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	F10_ENST00000375551.3_3'UTR|F10_ENST00000409306.1_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	445	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of cell migration (GO:0030335)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|intrinsic component of external side of plasma membrane (GO:0031233)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Antihemophilic Factor(DB00025)|Apixaban(DB06605)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Menadione(DB00170)|Rivaroxaban(DB06228)	GGGCTGTGCCCGTAAGGGGAA	0.627																																						uc001vsx.3																			0				endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	GRCh37	CM010240	F10	M		c.(1333-1335)Cgt>Tgt		Homo sapiens coagulation factor X (F10), mRNA.	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)						86.0	81.0	82.0					13																	113803697		2203	4300	6503	SO:0001583	missense	2159				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity	g.chr13:113803697C>T		CCDS9530.1	13q34	2012-10-02			ENSG00000126218	ENSG00000126218	3.4.21.6		3528	protein-coding gene	gene with protein product		613872					Standard	XM_005268298		Approved		uc001vsx.3	P00742	OTTHUMG00000017374	ENST00000375559.3:c.1333C>T	13.37:g.113803697C>T	ENSP00000364709:p.Arg445Cys					F10_uc001vsy.3_3'UTR	p.R445C	NM_000504	NP_000495	P00742	FA10_HUMAN	all cancers(43;0.0805)|Epithelial(84;0.231)		7	1390	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	445			Peptidase S1.		Q14340	Missense_Mutation	SNP	ENST00000375559.3	37	c.1333C>T	CCDS9530.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.661216	0.29515	.	.	ENSG00000126218	ENST00000375559	D	0.89343	-2.5	5.24	-1.69	0.08186	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.573000	0.16404	N	0.215907	D	0.93324	0.7872	M	0.72353	2.195	0.19300	N	0.999976	D	0.89917	1.0	D	0.76575	0.988	D	0.89260	0.3597	10	0.87932	D	0	.	18.9	0.92439	0.2351:0.7649:0.0:0.0	.	445	P00742	FA10_HUMAN	C	445	ENSP00000364709:R445C	ENSP00000364709:R445C	R	+	1	0	F10	112851698	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.323000	0.19593	0.062000	0.16340	-0.397000	0.06425	CGT		0.627	F10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045841.3		
CFL2	1073	broad.mit.edu	37	14	35182132	35182132	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr14:35182132G>A	ENST00000341223.3	-	4	591	c.440C>T	c.(439-441)tCg>tTg	p.S147L	CFL2_ENST00000298159.6_Missense_Mutation_p.S147L|CFL2_ENST00000556161.1_Missense_Mutation_p.S130L|CFL2_ENST00000555765.1_Missense_Mutation_p.S130L	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	147	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of actin filament depolymerization (GO:0030836)|regulation of dendritic spine morphogenesis (GO:0061001)|sarcomere organization (GO:0045214)	actin cytoskeleton (GO:0015629)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|nucleus (GO:0005634)				breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCCAAGTGTCGAACGGTCCTT	0.338																																						uc001wsh.3																			0		p.R146C(1)		breast(3)|endometrium(2)|lung(3)	8						c.(439-441)tCg>tTg		Homo sapiens cofilin 2 (muscle) (CFL2), transcript variant 2, mRNA.							114.0	112.0	113.0					14																	35182132		2203	4300	6503	SO:0001583	missense	1073					cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr14:35182132G>A	AF087867	CCDS9649.1, CCDS9650.1, CCDS58311.1	14q13.2	2014-09-17			ENSG00000165410	ENSG00000165410			1875	protein-coding gene	gene with protein product	"""nemaline myopathy type 7"""	601443				8800436	Standard	NM_138638		Approved	NEM7	uc001wsh.3	Q9Y281	OTTHUMG00000029536	ENST00000341223.3:c.440C>T	14.37:g.35182132G>A	ENSP00000340635:p.Ser147Leu					CFL2_uc001wsg.3_Missense_Mutation_p.S147L|CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsi.3_Non-coding_Transcript|CFL2_uc001wsj.3_Non-coding_Transcript	p.S147L	NM_138638	NP_001230574	Q9Y281	COF2_HUMAN	LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)	3	723	-	Breast(36;0.0361)|Hepatocellular(127;0.158)		147			ADF-H.		G3V5P4	Missense_Mutation	SNP	ENST00000341223.3	37	c.440C>T	CCDS9650.1	.	.	.	.	.	.	.	.	.	.	G	7.536	0.659741	0.14645	.	.	ENSG00000165410	ENST00000341223;ENST00000298159;ENST00000555765;ENST00000556161	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	6.02	5.12	0.69794	Actin-binding, cofilin/tropomyosin type (3);	0.269957	0.37669	N	0.001986	T	0.39809	0.1092	L	0.52905	1.665	0.39481	D	0.967898	B	0.26602	0.154	B	0.34180	0.177	T	0.25813	-1.0121	10	0.30854	T	0.27	-0.1245	15.8916	0.79303	0.0:0.3786:0.6214:0.0	.	147	Q9Y281	COF2_HUMAN	L	147;147;130;130	ENSP00000340635:S147L;ENSP00000298159:S147L;ENSP00000452451:S130L;ENSP00000452188:S130L	ENSP00000298159:S147L	S	-	2	0	CFL2	34251883	0.970000	0.33590	0.837000	0.33122	0.988000	0.76386	1.715000	0.37971	1.544000	0.49359	-0.175000	0.13238	TCG		0.338	CFL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276639.1	NM_138638	
NF1	4763	broad.mit.edu	37	17	29663349	29663349	+	Splice_Site	SNP	A	A	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr17:29663349A>G	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000444181.2_5'Flank|NF1_ENST00000417592.2_5'Flank|NF1_ENST00000581113.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTCAACTAGATTACAGAT	0.323			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599	GRCh37	CS000881	NF1	S		c.e41-2		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							78.0	71.0	73.0					17																	29663349		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29663349A>G		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.6007-1A>G	17.37:g.29663349A>G		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	p.I2003_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	41	6390	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2003					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37	c.6007_splice	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	A	17.00	3.277778	0.59758	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5002	0.75691	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26687475	1.000000	0.71417	0.943000	0.38184	0.856000	0.48823	8.838000	0.92115	2.302000	0.77476	0.533000	0.62120	.		0.323	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
MYOM1	8736	broad.mit.edu	37	18	3188890	3188890	+	Silent	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr18:3188890C>T	ENST00000356443.4	-	4	960	c.627G>A	c.(625-627)acG>acA	p.T209T	MYOM1_ENST00000261606.7_Silent_p.T209T|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.T209T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	209	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T209T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCCTGGATGCCGTGGACTGCT	0.522																																						uc002klp.3																			1	Substitution - coding silent(1)	p.T209T(2)	endometrium(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(625-627)acG>acA		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							260.0	245.0	250.0					18																	3188890		2050	4191	6241	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188890C>T	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.627G>A	18.37:g.3188890C>T						MYOM1_uc002klq.3_Silent_p.T209T	p.T209T	NM_003803	NP_003794	P52179	MYOM1_HUMAN			3	961	-			209			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.627G>A	CCDS45824.1																																																																																				0.522	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
MUC16	94025	broad.mit.edu	37	19	9075072	9075072	+	Missense_Mutation	SNP	G	G	A	rs577056863		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:9075072G>A	ENST00000397910.4	-	3	12577	c.12374C>T	c.(12373-12375)aCg>aTg	p.T4125M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4127	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTCTGAGTCGTAGCCAGTGG	0.502													A|||	1	0.000199681	0.0	0.0	5008	,	,		22208	0.0		0.0	False		,,,				2504	0.001					uc002mkp.3																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(12373-12375)aCg>aTg		Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.							114.0	110.0	111.0					19																	9075072		2081	4195	6276	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075072G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12374C>T	19.37:g.9075072G>A	ENSP00000381008:p.Thr4125Met						p.T4125M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			2	12578	-			4127			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12374C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.811	-0.039806	0.07497	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	1.77	-2.13	0.07144	.	.	.	.	.	T	0.06554	0.0168	N	0.02011	-0.69	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.27536	-1.0071	8	0.87932	D	0	.	2.4354	0.04481	0.2885:0.0:0.3028:0.4086	.	4125	B5ME49	.	M	4125	ENSP00000381008:T4125M	ENSP00000381008:T4125M	T	-	2	0	MUC16	8936072	0.000000	0.05858	0.000000	0.03702	0.231000	0.25187	-1.601000	0.02081	-1.384000	0.02103	-0.817000	0.03123	ACG		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
YJEFN3	374887	broad.mit.edu	37	19	19645858	19645858	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:19645858G>A	ENST00000514277.4	+	4	372	c.334G>A	c.(334-336)Gct>Act	p.A112T	YJEFN3_ENST00000608404.1_Missense_Mutation_p.A111T|YJEFN3_ENST00000436027.5_Missense_Mutation_p.A62T|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.A111T	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	112	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						CCCGTTGCCCGCTCTCTCCCG	0.647																																						uc002nmt.2																			0				NS(1)|breast(1)|lung(3)	5						c.(334-336)Gct>Act		Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							93.0	108.0	103.0					19																	19645858		2099	4230	6329	SO:0001583	missense	51079							g.chr19:19645858G>A		CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.334G>A	19.37:g.19645858G>A	ENSP00000426964:p.Ala112Thr					YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.A111T|YJEFN3_uc010ecf.2_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.2_Non-coding_Transcript	p.A112T	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN			3	406	+			112			YjeF N-terminal.		A6XGK9|Q4G1C0	Missense_Mutation	SNP	ENST00000514277.4	37	c.334G>A	CCDS42530.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450699	0.26074	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.64438	0.98;0.98;-0.1	4.53	0.612	0.17591	YjeF-related protein, N-terminal (5);	0.325077	0.33272	N	0.005090	T	0.30198	0.0757	N	0.04705	-0.18	0.09310	N	1	B;B;B	0.18610	0.021;0.023;0.029	B;B;B	0.12837	0.008;0.005;0.006	T	0.07927	-1.0747	10	0.20046	T	0.44	-0.0428	3.1346	0.06435	0.2215:0.0:0.4002:0.3783	.	111;62;112	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	T	111;112;62;112;62;111	ENSP00000398520:A62T;ENSP00000426964:A112T;ENSP00000452549:A111T	ENSP00000389732:A111T	A	+	1	0	YJEFN3;CTC-260F20.3	19506858	0.420000	0.25457	0.007000	0.13788	0.560000	0.35617	1.466000	0.35310	0.377000	0.24735	0.650000	0.86243	GCT		0.647	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368157.5	NM_198537	
RPSAP58	388524	broad.mit.edu	37	19	24010412	24010412	+	Missense_Mutation	SNP	C	C	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:24010412C>A	ENST00000496398.1	+	4	872	c.449C>A	c.(448-450)aCa>aAa	p.T150K	RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA|RPSAP58_ENST00000354585.4_Missense_Mutation_p.T150K					ribosomal protein SA pseudogene 58											endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CTGTGTAACACAGATTCTCCT	0.542																																						uc002nrn.3																			0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(448-450)aCa>aAa		Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.																																				SO:0001583	missense	388524				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr19:24010412C>A			19p12	2010-06-16			ENSG00000205246	ENSG00000205246			36809	pseudogene	pseudogene						19123937	Standard	NR_003662		Approved		uc002nrn.3		OTTHUMG00000158122	ENST00000496398.1:c.449C>A	19.37:g.24010412C>A	ENSP00000417240:p.Thr150Lys						p.T150K	NM_002295	NP_002286	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	3	872	+			150						Missense_Mutation	SNP	ENST00000496398.1	37	c.449C>A		.	.	.	.	.	.	.	.	.	.	.	17.80	3.478874	0.63849	.	.	ENSG00000205246	ENST00000496398;ENST00000354585	T;T	0.61392	0.11;0.11	2.52	2.52	0.30459	.	0.000000	0.85682	U	0.000000	T	0.57562	0.2062	.	.	.	0.53688	D	0.999973	P	0.45428	0.858	P	0.46825	0.528	T	0.64118	-0.6482	9	0.87932	D	0	.	10.8987	0.47038	0.0:1.0:0.0:0.0	.	150	A6NE09	.	K	150	ENSP00000417240:T150K;ENSP00000346598:T150K	ENSP00000346598:T150K	T	+	2	0	RPSAP58	23802252	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	1.477000	0.48234	0.627000	0.83407	ACA		0.542	RPSAP58-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000350238.1	NR_003662	
NLRP4	147945	broad.mit.edu	37	19	56379119	56379119	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:56379119C>T	ENST00000301295.6	+	6	2653	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000587891.1_Missense_Mutation_p.A669V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	744					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGTCCTTGCTGGCCTTCTA	0.483																																						uc002qmd.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42						c.(2230-2232)gCt>gTt		Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.							207.0	166.0	180.0					19																	56379119		2203	4300	6503	SO:0001583	missense	147945						ATP binding	g.chr19:56379119C>T	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2231C>T	19.37:g.56379119C>T	ENSP00000301295:p.Ala744Val					NLRP4_uc002qmf.3_Missense_Mutation_p.A669V|NLRP4_uc010etf.3_Intron	p.A744V	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	5	2653	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	744					Q86W87|Q96AY6	Missense_Mutation	SNP	ENST00000301295.6	37	c.2231C>T	CCDS12936.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.316513	0.23908	.	.	ENSG00000160505	ENST00000301295	T	0.15487	2.42	3.13	0.918	0.19386	.	.	.	.	.	T	0.17238	0.0414	M	0.70275	2.135	0.09310	N	1	P;P	0.41008	0.735;0.495	B;B	0.38880	0.284;0.147	T	0.17107	-1.0380	9	0.54805	T	0.06	.	3.6835	0.08319	0.2426:0.6242:0.0:0.1332	.	669;744	Q96MN2-3;Q96MN2	.;NALP4_HUMAN	V	744	ENSP00000301295:A744V	ENSP00000301295:A744V	A	+	2	0	NLRP4	61070931	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.172000	0.16704	0.325000	0.23359	0.411000	0.27672	GCT		0.483	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
TTN	7273	broad.mit.edu	37	2	179640164	179640164	+	Missense_Mutation	SNP	C	C	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr2:179640164C>G	ENST00000591111.1	-	28	6651	c.6427G>C	c.(6427-6429)Gct>Cct	p.A2143P	TTN_ENST00000589042.1_Missense_Mutation_p.A2143P|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2097P|TTN_ENST00000359218.5_Missense_Mutation_p.A2097P|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A2143P|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.A2143P|TTN_ENST00000342175.6_Missense_Mutation_p.A2097P			Q8WZ42	TITIN_HUMAN	titin	12475	Ig-like 10.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCCTCAGCAGTCACATCT	0.443																																						uc021vsy.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(6427-6429)Gct>Cct		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							99.0	95.0	96.0					2																	179640164		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179640164C>G	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.6427G>C	2.37:g.179640164C>G	ENSP00000465570:p.Ala2143Pro					TTN_uc021vsz.1_Missense_Mutation_p.A2097P|TTN_uc021vta.1_Missense_Mutation_p.A2097P|TTN_uc021vtb.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|AK123298_uc002unc.1_5'Flank	p.A2143P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		27	6652	-			2143			Ig-like 10.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.6427G>C		.	.	.	.	.	.	.	.	.	.	C	10.02	1.235272	0.22626	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73	5.27	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51805	0.1696	N	0.08118	0	0.31963	N	0.60814	B;B;B;B;B	0.18166	0.002;0.002;0.002;0.002;0.026	B;B;B;B;B	0.22601	0.001;0.001;0.002;0.002;0.04	T	0.56062	-0.8041	9	0.87932	D	0	.	11.0861	0.48089	0.2583:0.6171:0.1245:0.0	.	2097;2097;2097;2143;2143	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	2143;2097;2097;2097;2097;2143	ENSP00000343764:A2143P;ENSP00000434586:A2097P;ENSP00000340554:A2097P;ENSP00000352154:A2097P;ENSP00000354117:A2143P	ENSP00000340554:A2097P	A	-	1	0	TTN	179348409	0.989000	0.36119	0.990000	0.47175	0.992000	0.81027	2.240000	0.43088	0.568000	0.29311	0.655000	0.94253	GCT		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
PCNT	5116	broad.mit.edu	37	21	47845820	47845820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr21:47845820G>A	ENST00000359568.5	+	33	7362	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2419					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAAGCGGCGAGCCACACCC	0.577																																						uc002zji.4																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(7255-7257)Gag>Aag		Homo sapiens pericentrin (PCNT), mRNA.							81.0	80.0	80.0					21																	47845820		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47845820G>A	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7255G>A	21.37:g.47845820G>A	ENSP00000352572:p.Glu2419Lys					PCNT_uc002zjj.3_Missense_Mutation_p.E2301K	p.E2419K	NM_006031	NP_006022	O95613	PCNT_HUMAN			32	7362	+	Breast(49;0.112)		2419					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.7255G>A	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	13.37	2.217485	0.39201	.	.	ENSG00000160299	ENST00000359568	T	0.01629	4.72	2.36	1.46	0.22682	.	.	.	.	.	T	0.03053	0.0090	L	0.55990	1.75	0.09310	N	1	P;D	0.69078	0.944;0.997	B;P	0.50440	0.249;0.641	T	0.47195	-0.9136	9	0.26408	T	0.33	.	5.2293	0.15412	0.1708:0.0:0.8292:0.0	.	2301;2419	O95613-2;O95613	.;PCNT_HUMAN	K	2419	ENSP00000352572:E2419K	ENSP00000352572:E2419K	E	+	1	0	PCNT	46670248	0.741000	0.28217	0.031000	0.17742	0.045000	0.14185	1.827000	0.39102	0.531000	0.28639	0.655000	0.94253	GAG		0.577	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
BCL6	604	broad.mit.edu	37	3	187447774	187447774	+	Missense_Mutation	SNP	C	C	T	rs536118071		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr3:187447774C>T	ENST00000406870.2	-	5	785	c.419G>A	c.(418-420)cGt>cAt	p.R140H	RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R140H|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.R140H	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	140					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAACTCTTCACGAGGAGGCTT	0.522			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	uc003frp.3				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(418-420)cGt>cAt		Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.							46.0	49.0	48.0					3																	187447774		2203	4300	6503	SO:0001583	missense	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447774C>T		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.419G>A	3.37:g.187447774C>T	ENSP00000384371:p.Arg140His					LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.2_Missense_Mutation_p.R140H	p.R140H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	4	876	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		140					A7E241|B8PSA7|D3DNV5	Missense_Mutation	SNP	ENST00000406870.2	37	c.419G>A	CCDS3289.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266216	0.40095	.	.	ENSG00000113916	ENST00000406870;ENST00000232014;ENST00000450123	T;T;T	0.09817	2.96;2.96;2.94	5.46	4.59	0.56863	.	0.119692	0.64402	N	0.000002	T	0.28995	0.0720	L	0.58101	1.795	0.53688	D	0.99997	D;B	0.89917	1.0;0.008	D;B	0.80764	0.994;0.004	T	0.01675	-1.1298	10	0.59425	D	0.04	.	14.5419	0.68002	0.0:0.9285:0.0:0.0715	.	140;140	B8PSA7;P41182	.;BCL6_HUMAN	H	140	ENSP00000384371:R140H;ENSP00000232014:R140H;ENSP00000413122:R140H	ENSP00000232014:R140H	R	-	2	0	BCL6	188930468	1.000000	0.71417	0.961000	0.40146	0.428000	0.31595	5.733000	0.68571	1.441000	0.47550	-0.201000	0.12746	CGT		0.522	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931	
REST	5978	broad.mit.edu	37	4	57777086	57777086	+	Silent	SNP	A	A	G			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:57777086A>G	ENST00000309042.7	+	2	596	c.282A>G	c.(280-282)gaA>gaG	p.E94E		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	94	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAGGACTTGAAGAGTCTGCTG	0.458																																						uc003hch.3																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50						c.(280-282)gaA>gaG		Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.							79.0	76.0	77.0					4																	57777086		2203	4300	6503	SO:0001819	synonymous_variant	5978				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding	g.chr4:57777086A>G	U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.282A>G	4.37:g.57777086A>G						REST_uc003hci.3_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.3_5'UTR	p.E94E	NM_005612	NP_005603	Q13127	REST_HUMAN			1	629	+	Glioma(25;0.08)|all_neural(26;0.181)		94			Interaction with SIN3A.		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Silent	SNP	ENST00000309042.7	37	c.282A>G	CCDS3509.1																																																																																				0.458	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2	NM_005612	
SPARCL1	8404	broad.mit.edu	37	4	88415064	88415064	+	Silent	SNP	T	T	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:88415064T>C	ENST00000282470.6	-	4	1358	c.888A>G	c.(886-888)caA>caG	p.Q296Q	SPARCL1_ENST00000418378.1_Silent_p.Q296Q|SPARCL1_ENST00000503414.1_Silent_p.Q171Q	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	296					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTACCCTCTTGACTCTGCC	0.418																																						uc010ikm.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21						c.(886-888)caA>caG		Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.							311.0	300.0	303.0					4																	88415064		2203	4300	6503	SO:0001819	synonymous_variant	8404				signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding	g.chr4:88415064T>C	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.888A>G	4.37:g.88415064T>C						SPARCL1_uc011cdc.2_Silent_p.Q171Q|SPARCL1_uc003hqs.4_Silent_p.Q296Q|SPARCL1_uc011cdd.2_Silent_p.Q171Q	p.Q296Q	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00118)	4	1460	-			296					B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	37	c.888A>G	CCDS3622.1																																																																																				0.418	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2		
FAT4	79633	broad.mit.edu	37	4	126337603	126337603	+	Splice_Site	SNP	G	G	A			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:126337603G>A	ENST00000394329.3	+	6	6857	c.6844G>A	c.(6844-6846)Gtg>Atg	p.V2282M	FAT4_ENST00000335110.5_Splice_Site_p.V580M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2282	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTCTACAGGTGGTGGCAAG	0.368																																						uc003ifj.4																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.e6-1		Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.							255.0	244.0	248.0					4																	126337603		2203	4300	6503	SO:0001630	splice_region_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337603G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6844-1G>A	4.37:g.126337603G>A						FAT4_uc011cgp.2_Splice_Site_p.V580_splice	p.V2282_splice	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			6	6844	+			2282			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6844_splice	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	19.15	3.772677	0.69992	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.57907	0.37;0.37	5.23	5.23	0.72850	Cadherin (4);Cadherin-like (1);	0.000000	0.31233	U	0.008001	T	0.78046	0.4222	M	0.89030	3	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.999;0.999	T	0.81801	-0.0766	9	.	.	.	.	18.8224	0.92103	0.0:0.0:1.0:0.0	.	580;2282	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	M	2282;580	ENSP00000377862:V2282M;ENSP00000335169:V580M	.	V	+	1	0	FAT4	126557053	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	6.532000	0.73825	2.438000	0.82558	0.563000	0.77884	GTG		0.368	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	Missense_Mutation
NHLRC1	378884	broad.mit.edu	37	6	18122155	18122155	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr6:18122155C>T	ENST00000340650.3	-	1	696	c.683G>A	c.(682-684)gGg>gAg	p.G228E		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	228					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TACCACAATCCCATTCTGAGG	0.532																																						uc003ncl.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11						c.(682-684)gGg>gAg		Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.							47.0	50.0	49.0					6																	18122155		2203	4300	6503	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122155C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.683G>A	6.37:g.18122155C>T	ENSP00000345464:p.Gly228Glu						p.G228E	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		0	697	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	228					Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.683G>A	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	0.220	-1.029125	0.02045	.	.	ENSG00000187566	ENST00000340650	D	0.89939	-2.59	4.99	0.48	0.16804	Six-bladed beta-propeller, TolB-like (1);	0.565214	0.18415	N	0.141944	T	0.43277	0.1240	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52335	-0.8589	10	0.02654	T	1	-7.261	3.8027	0.08764	0.0:0.2754:0.2013:0.5232	.	228	Q6VVB1	NHLC1_HUMAN	E	228	ENSP00000345464:G228E	ENSP00000345464:G228E	G	-	2	0	NHLRC1	18230134	0.000000	0.05858	0.319000	0.25293	0.795000	0.44927	0.497000	0.22514	0.461000	0.27071	0.655000	0.94253	GGG		0.532	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1		
OR9A4	130075	broad.mit.edu	37	7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr7:141619469C>T	ENST00000548136.1	+	1	853	c.794C>T	c.(793-795)aCg>aTg	p.T265M	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478																																						uc003vwu.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(793-795)aCg>aTg		Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.							72.0	76.0	74.0					7																	141619469		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619469C>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.794C>T	7.37:g.141619469C>T	ENSP00000448789:p.Thr265Met						p.T265M	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			0	794	+	Melanoma(164;0.0171)		265					B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.794C>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	C	3.959	-0.010659	0.07727	.	.	ENSG00000258083	ENST00000548136	T	0.00137	8.68	3.8	1.96	0.26148	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00300	0.0009	M	0.72479	2.2	0.09310	N	0.999997	D	0.55800	0.973	P	0.53954	0.738	T	0.46911	-0.9157	9	0.62326	D	0.03	-15.7247	10.6948	0.45892	0.0:0.8123:0.0:0.1877	.	265	Q8NGU2	OR9A4_HUMAN	M	265	ENSP00000448789:T265M	ENSP00000386148:T265M	T	+	2	0	OR9A4	141265938	0.000000	0.05858	0.222000	0.23844	0.062000	0.15995	-1.310000	0.02725	0.081000	0.16988	-0.797000	0.03246	ACG		0.478	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656	
ZNF782	158431	broad.mit.edu	37	9	99581330	99581330	+	Silent	SNP	G	G	C			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr9:99581330G>C	ENST00000481138.1	-	6	1636	c.975C>G	c.(973-975)ctC>ctG	p.L325L	ZNF782_ENST00000535338.1_Silent_p.L193L|ZNF782_ENST00000466833.1_5'Flank	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398																																						uc004awp.1																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33						c.(973-975)ctC>ctG		Homo sapiens zinc finger protein 782 (ZNF782), mRNA.							133.0	128.0	130.0					9																	99581330		2203	4300	6503	SO:0001819	synonymous_variant	158431				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:99581330G>C	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.975C>G	9.37:g.99581330G>C						ZNF782_uc011lup.1_Silent_p.L193L	p.L325L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN			5	1256	-		Acute lymphoblastic leukemia(62;0.0527)	325					B2RNR0	Silent	SNP	ENST00000481138.1	37	c.975C>G	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	G	2.297	-0.361108	0.05103	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.52	0.356	0.16074	.	.	.	.	.	T	0.19087	0.0458	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.21245	-1.0251	4	.	.	.	.	0.4244	0.00461	0.2678:0.1954:0.3374:0.1995	.	.	.	.	A	314	.	.	P	-	1	0	ZNF782	98621151	0.000000	0.05858	0.001000	0.08648	0.107000	0.19398	-2.066000	0.01385	0.072000	0.16694	0.644000	0.83932	CCC		0.398	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
