#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MRPS15	64960	broad.mit.edu	37	1	36926866	36926866	+	Splice_Site	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:36926866T>C	ENST00000373116.5	-	4	460	c.299A>G	c.(298-300)aAg>aGg	p.K100R	MRPS15_ENST00000488606.1_5'Flank	NM_031280.3	NP_112570.2	P82914	RT15_HUMAN	mitochondrial ribosomal protein S15	100					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCTGCTCACCTTGTTGGCCAT	0.527																																						uc001cas.2		NA																	0				ovary(1)	1						c.(298-300)AAG>AGG		mitochondrial ribosomal protein S15 precursor							77.0	76.0	76.0					1																	36926866		2203	4300	6503	SO:0001630	splice_region_variant	64960				translation	mitochondrial small ribosomal subunit|nuclear membrane	structural constituent of ribosome	g.chr1:36926866T>C	AB049946	CCDS411.1	1p34.3	2012-09-13			ENSG00000116898	ENSG00000116898		"""Mitochondrial ribosomal proteins / small subunits"""	14504	protein-coding gene	gene with protein product		611979					Standard	NM_031280		Approved	FLJ11564	uc001cas.2	P82914	OTTHUMG00000008042	ENST00000373116.5:c.300+1A>G	1.37:g.36926866T>C							p.K100R	NM_031280	NP_112570	P82914	RT15_HUMAN			4	463	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	100					B2RD82|Q9H2K1	Missense_Mutation	SNP	ENST00000373116.5	37	c.299A>G	CCDS411.1	.	.	.	.	.	.	.	.	.	.	T	5.418	0.262251	0.10239	.	.	ENSG00000116898	ENST00000373116	.	.	.	5.78	-2.35	0.06684	.	0.635117	0.17538	N	0.170647	T	0.25754	0.0627	N	0.21448	0.665	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35351	-0.9792	9	0.02654	T	1	-0.1646	5.8703	0.18799	0.121:0.3613:0.0:0.5177	.	100	P82914	RT15_HUMAN	R	100	.	ENSP00000362208:K100R	K	-	2	0	MRPS15	36699453	0.995000	0.38212	0.378000	0.26068	0.878000	0.50629	1.489000	0.35562	-0.237000	0.09739	0.533000	0.62120	AAG		0.527	MRPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022052.2	NM_031280	Missense_Mutation	17	32	0	0	0	0	17	32				
EPHA10	284656	broad.mit.edu	37	1	38187398	38187398	+	Missense_Mutation	SNP	C	C	T	rs200657467		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:38187398C>T	ENST00000373048.4	-	11	2079	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	EPHA10_ENST00000427468.2_Missense_Mutation_p.E694K|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.E189K|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	694	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GTGAGGGCCTCGGCCAGGAAG	0.672																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(2080-2082)GAG>AAG		EPH receptor A10 isofom 3		C	LYS/GLU	0,4048		0,0,2024	16.0	20.0	18.0		2080	4.1	1.0	1		18	2,8342		0,2,4170	yes	missense	EPHA10	NM_001099439.1	56	0,2,6194	TT,TC,CC		0.024,0.0,0.0161	probably-damaging	694/1009	38187398	2,12390	2024	4172	6196	SO:0001583	missense	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38187398C>T	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.2080G>A	1.37:g.38187398C>T	ENSP00000362139:p.Glu694Lys					EPHA10_uc001cbt.2_5'Flank|EPHA10_uc009vvh.1_RNA|EPHA10_uc001cbu.2_RNA|EPHA10_uc001cbv.1_RNA	p.E694K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			11	2166	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	694			Cytoplasmic (Potential).|Protein kinase.		A4FU89|J3KPB5|Q6NW42	Missense_Mutation	SNP	ENST00000373048.4	37	c.2080G>A	CCDS41305.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016581	0.75161	0.0	2.4E-4	ENSG00000183317	ENST00000330210;ENST00000427468;ENST00000373048	D;D;D	0.81579	-1.51;-1.51;-1.51	4.07	4.07	0.47477	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32328	N	0.006249	D	0.89466	0.6723	M	0.92649	3.33	0.80722	D	1	D	0.67145	0.996	P	0.59171	0.853	D	0.91227	0.5011	10	0.66056	D	0.02	.	11.4991	0.50426	0.0:0.9071:0.0:0.0929	.	694	Q5JZY3	EPHAA_HUMAN	K	189;694;694	ENSP00000330379:E189K;ENSP00000397746:E694K;ENSP00000362139:E694K	ENSP00000330379:E189K	E	-	1	0	EPHA10	37959985	0.998000	0.40836	0.991000	0.47740	0.400000	0.30750	3.872000	0.56085	2.256000	0.74724	0.491000	0.48974	GAG		0.672	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		5	24	0	0	0	0	5	24				
RRAGC	64121	broad.mit.edu	37	1	39317431	39317431	+	Splice_Site	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:39317431T>C	ENST00000373001.3	-	5	933		c.e5-2			NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				ACCTGAATTCTTGGAAAAACA	0.323																																						uc001ccq.2		NA																	0				ovary(1)	1						c.e5-1		Ras-related GTP binding C							75.0	78.0	77.0					1																	39317431		2203	4300	6503	SO:0001630	splice_region_variant	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39317431T>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.757-2A>G	1.37:g.39317431T>C						RRAGC_uc010oim.1_Splice_Site_p.N219_splice|RRAGC_uc001ccr.2_Splice_Site_p.N175_splice	p.N253_splice	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN			5	779	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)							Splice_Site	SNP	ENST00000373001.3	37	c.757_splice	CCDS430.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243553	0.79912	.	.	ENSG00000116954	ENST00000373001	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5446	0.84426	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RRAGC	39090018	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.005000	0.88553	2.311000	0.77944	0.533000	0.62120	.		0.323	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	NM_022157	Intron	16	66	0	0	0	0	16	66				
NDC1	55706	broad.mit.edu	37	1	54269617	54269617	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:54269617G>C	ENST00000371429.3	-	10	1648	c.1050C>G	c.(1048-1050)ttC>ttG	p.F350L	NDC1_ENST00000537333.1_Missense_Mutation_p.F15L|NDC1_ENST00000234725.8_Missense_Mutation_p.F235L|NDC1_ENST00000540001.1_Missense_Mutation_p.F350L	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	350					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)										GGCTGAGGCTGAAAACTTCTT	0.393																																						uc001cvs.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1048-1050)TTC>TTG		transmembrane protein 48							182.0	185.0	184.0					1																	54269617		2203	4300	6503	SO:0001583	missense	55706				mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore	g.chr1:54269617G>C	AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1050C>G	1.37:g.54269617G>C	ENSP00000360483:p.Phe350Leu					TMEM48_uc010onu.1_Missense_Mutation_p.F310L|TMEM48_uc001cvt.2_Missense_Mutation_p.F227L|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.F15L	p.F350L	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN			10	1291	-			350			Cytoplasmic (Potential).		B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	c.1050C>G	CCDS583.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940973	0.73557	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000540001;ENST00000537333;ENST00000234725	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.64	0.661	0.17874	.	0.087690	0.85682	D	0.000000	T	0.73853	0.3640	M	0.72894	2.215	0.58432	D	0.999997	D;D	0.76494	0.999;0.999	D;D	0.74348	0.983;0.983	T	0.72616	-0.4239	10	0.59425	D	0.04	.	11.3964	0.49845	0.5071:0.0:0.4929:0.0	.	310;350	B4DHA3;Q9BTX1	.;NDC1_HUMAN	L	350;350;350;15;235	ENSP00000360483:F350L;ENSP00000440873:F350L;ENSP00000439947:F15L;ENSP00000234725:F235L	ENSP00000234725:F235L	F	-	3	2	TMEM48	54042205	0.987000	0.35691	0.997000	0.53966	0.990000	0.78478	0.163000	0.16520	-0.099000	0.12263	-0.369000	0.07265	TTC		0.393	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1	NM_018087		36	185	0	0	0	0	36	185				
ST6GALNAC5	81849	broad.mit.edu	37	1	77510198	77510198	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:77510198C>T	ENST00000477717.1	+	3	806	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	191					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CAACCTGCATCTCCTGAGCCA	0.587																																						uc001dhi.2		NA																	0				pancreas(1)|skin(1)	2						c.(571-573)CTC>TTC		sialyltransferase 7E							102.0	101.0	102.0					1																	77510198		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77510198C>T		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.571C>T	1.37:g.77510198C>T	ENSP00000417583:p.Leu191Phe					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.L191F	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	746	+			191			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.571C>T	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221445	0.79464	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.30182	1.54	5.46	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.51228	-0.8732	10	0.56958	D	0.05	-27.8669	13.6336	0.62210	0.0:0.9259:0.0:0.0741	.	191	Q9BVH7	SIA7E_HUMAN	F	191;101	ENSP00000417583:L191F	ENSP00000436263:L191F	L	+	1	0	ST6GALNAC5	77282786	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	2.616000	0.46376	2.543000	0.85770	0.655000	0.94253	CTC		0.587	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2	NM_030965		27	187	0	0	0	0	27	187				
CCDC18	343099	broad.mit.edu	37	1	93691976	93691976	+	Missense_Mutation	SNP	T	T	G	rs372389242		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:93691976T>G	ENST00000343253.7	+	17	2761	c.2259T>G	c.(2257-2259)ttT>ttG	p.F753L	CCDC18_ENST00000557479.1_Missense_Mutation_p.F872L|CCDC18_ENST00000401026.3_Missense_Mutation_p.F754L|CCDC18_ENST00000338949.4_Missense_Mutation_p.F509L|CCDC18_ENST00000421014.2_3'UTR|CCDC18_ENST00000334652.5_Missense_Mutation_p.F49L			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	753										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		AGGAAAAGTTTGAAAAACAGT	0.294																																						uc001dpq.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(2614-2616)TTT>TTG		sarcoma antigen NY-SAR-41							49.0	48.0	48.0					1																	93691976		1795	4053	5848	SO:0001583	missense	343099							g.chr1:93691976T>G			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.2259T>G	1.37:g.93691976T>G	ENSP00000343377:p.Phe753Leu					CCDC18_uc009wdl.1_Missense_Mutation_p.F389L	p.F872L	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	17	2784	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	753			Potential.		Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.2616T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.7|25.7	4.669861|4.669861	0.88348|0.88348	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000334652;ENST00000455267|ENST00000370276	T;T;T;T;T;T|.	0.26067|.	1.76;1.76;1.76;1.76;1.76;1.76|.	5.23|5.23	4.11|4.11	0.48088|0.48088	.|.	0.065652|.	0.64402|.	D|.	0.000004|.	T|T	0.51041|0.51041	0.1651|0.1651	M|M	0.61703|0.61703	1.905|1.905	0.45161|0.45161	D|D	0.998173|0.998173	D;D|.	0.71674|.	0.996;0.998|.	D;D|.	0.80764|.	0.99;0.994|.	T|T	0.51601|0.51601	-0.8685|-0.8685	10|5	0.16896|.	T|.	0.51|.	.|.	11.0127|11.0127	0.47671|0.47671	0.0:0.0735:0.0:0.9265|0.0:0.0735:0.0:0.9265	.|.	753;872|.	Q5T9S5;G3V388|.	CCD18_HUMAN;.|.	L|W	753;754;872;509;49;429|807	ENSP00000343377:F753L;ENSP00000383808:F754L;ENSP00000451099:F872L;ENSP00000344380:F509L;ENSP00000334084:F49L;ENSP00000391151:F429L|.	ENSP00000334084:F49L|.	F|L	+|+	3|2	2|0	CCDC18|CCDC18	93464564|93464564	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	3.098000|3.098000	0.50259|0.50259	0.925000|0.925000	0.37094|0.37094	0.528000|0.528000	0.53228|0.53228	TTT|TTG		0.294	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886		5	51	0	0	0	0	5	51				
FCRLA	84824	broad.mit.edu	37	1	161681071	161681071	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:161681071G>C	ENST00000236938.6	+	3	599	c.357G>C	c.(355-357)tgG>tgC	p.W119C	FCRLA_ENST00000540926.1_Missense_Mutation_p.W108C|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.W108C|FCRLA_ENST00000349527.4_Missense_Mutation_p.W102C|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.W125C|FCRLA_ENST00000367957.2_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	102	Ig-like C2-type 1.				cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GCCAGGCCTGGCAAGACTGGC	0.577																																						uc001gbe.2		NA																	0					0						c.(373-375)TGG>TGC		Fc receptor-like and mucin-like 1							44.0	47.0	46.0					1																	161681071		2203	4300	6503	SO:0001583	missense	84824				cell differentiation	cytoplasm|extracellular region		g.chr1:161681071G>C	AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.357G>C	1.37:g.161681071G>C	ENSP00000236938:p.Trp119Cys					FCRLA_uc001gbd.2_Missense_Mutation_p.W119C|FCRLA_uc001gbf.2_Intron|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Intron|FCRLA_uc009wuq.2_Intron	p.W125C	NM_032738	NP_116127	Q7L513	FCRLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00301)		4	617	+	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		102			Ig-like C2-type 1.		A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	c.375G>C	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.708756	0.68615	.	.	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000540926;ENST00000349527;ENST00000367953	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	4.99	4.99	0.66335	.	0.000000	0.43110	D	0.000609	T	0.33904	0.0879	M	0.87758	2.905	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.97110	1.0;0.98	T	0.18429	-1.0337	10	0.66056	D	0.02	.	13.6413	0.62253	0.0:0.0:1.0:0.0	.	125;119	A6NC03;Q7L513-9	.;.	C	119;125;108;102;108	ENSP00000236938:W119C;ENSP00000356936:W125C;ENSP00000446380:W108C;ENSP00000294798:W102C;ENSP00000356930:W108C	ENSP00000236938:W119C	W	+	3	0	FCRLA	159947695	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.487000	0.60293	2.568000	0.86640	0.655000	0.94253	TGG		0.577	FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738		6	49	0	0	0	0	6	49				
PTPRC	5788	broad.mit.edu	37	1	198713307	198713307	+	Missense_Mutation	SNP	C	C	T	rs577595945		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:198713307C>T	ENST00000367376.2	+	26	2987	c.2816C>T	c.(2815-2817)cCg>cTg	p.P939L	PTPRC_ENST00000442510.2_Missense_Mutation_p.P941L|PTPRC_ENST00000352140.3_Missense_Mutation_p.P891L|PTPRC_ENST00000594404.1_Missense_Mutation_p.P778L|PTPRC_ENST00000348564.6_Missense_Mutation_p.P780L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	939					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCCAGTGAGCCGTCTCCACTA	0.368																																						uc001gur.1		NA																	0				breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(2815-2817)CCG>CTG		protein tyrosine phosphatase, receptor type, C							68.0	64.0	65.0					1																	198713307		2203	4298	6501	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713307C>T	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2816C>T	1.37:g.198713307C>T	ENSP00000356346:p.Pro939Leu					PTPRC_uc001gus.1_Missense_Mutation_p.P891L|PTPRC_uc001gut.1_Missense_Mutation_p.P778L	p.P939L	NM_002838	NP_002829	P08575	PTPRC_HUMAN			26	2996	+			939			Cytoplasmic (Potential).		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2816C>T		.	.	.	.	.	.	.	.	.	.	C	26.8	4.772175	0.90108	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T;T	0.12672	2.73;2.66	5.78	5.78	0.91487	.	0.000000	0.49916	D	0.000140	T	0.40272	0.1110	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.989;0.992;0.992	T	0.06643	-1.0815	10	0.59425	D	0.04	.	20.0122	0.97464	0.0:1.0:0.0:0.0	.	780;891;939	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	L	941;891;939;778	ENSP00000356346:P941L;ENSP00000193532:P891L	ENSP00000306782:P778L	P	+	2	0	PTPRC	196979930	0.994000	0.37717	0.960000	0.40013	0.825000	0.46686	5.379000	0.66196	2.724000	0.93272	0.637000	0.83480	CCG		0.368	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	31	0	0	0	0	5	31				
FMN2	56776	broad.mit.edu	37	1	240601464	240601464	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:240601464T>A	ENST00000319653.9	+	16	5244	c.5014T>A	c.(5014-5016)Ttt>Att	p.F1672I	FMN2_ENST00000545751.1_Missense_Mutation_p.F268I	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1672	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCTCTGACTTTAAAGACTT	0.383																																						uc010pyd.1		NA																	0				ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(5014-5016)TTT>ATT		formin 2							121.0	120.0	120.0					1																	240601464		2203	4300	6503	SO:0001583	missense	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240601464T>A	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.5014T>A	1.37:g.240601464T>A	ENSP00000318884:p.Phe1672Ile					FMN2_uc010pye.1_Missense_Mutation_p.F1676I|FMN2_uc010pyg.1_Missense_Mutation_p.F268I	p.F1672I	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		16	5239	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1672			FH2.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	ENST00000319653.9	37	c.5014T>A	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.739179	0.89573	.	.	ENSG00000155816	ENST00000319653;ENST00000545751;ENST00000537355;ENST00000406993	T;T	0.58358	0.34;0.34	5.91	5.91	0.95273	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000006	T	0.77398	0.4124	M	0.88105	2.93	0.80722	D	1	P;D;D	0.76494	0.822;0.999;0.999	P;D;D	0.81914	0.451;0.915;0.995	T	0.82094	-0.0627	10	0.87932	D	0	.	16.3399	0.83079	0.0:0.0:0.0:1.0	.	268;301;1672	B4DP05;B4DN09;Q9NZ56	.;.;FMN2_HUMAN	I	1672;268;299;148	ENSP00000318884:F1672I;ENSP00000437918:F268I	ENSP00000318884:F1672I	F	+	1	0	FMN2	238668087	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	7.583000	0.82559	2.266000	0.75297	0.472000	0.43445	TTT		0.383	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		15	117	0	0	0	0	15	117				
OR2AK2	391191	broad.mit.edu	37	1	248129300	248129300	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr1:248129300C>G	ENST00000366480.3	+	1	766	c.667C>G	c.(667-669)Cta>Gta	p.L223V	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	223						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(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TATTATCTTGCTACTACCATT	0.448																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1		NA																	0				ovary(1)|breast(1)	2						c.(667-669)CTA>GTA		olfactory receptor, family 2, subfamily AK,							90.0	77.0	82.0					1																	248129300		2203	4300	6503	SO:0001583	missense	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129300C>G	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.667C>G	1.37:g.248129300C>G	ENSP00000355436:p.Leu223Val					OR2L13_uc001ids.2_Intron	p.L223V	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	667	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		223			Helical; Name=5; (Potential).		B2RND1|Q6IF05	Missense_Mutation	SNP	ENST00000366480.3	37	c.667C>G	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	10.37	1.332438	0.24167	.	.	ENSG00000187080	ENST00000366480	T	0.39056	1.1	2.48	-0.769	0.11009	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.36054	0.0953	L	0.35288	1.05	0.09310	N	1	D	0.55385	0.971	P	0.51079	0.658	T	0.22452	-1.0216	9	0.42905	T	0.14	.	5.9509	0.19246	0.0:0.6687:0.1759:0.1554	.	223	Q8NG84	O2AK2_HUMAN	V	223	ENSP00000355436:L223V	ENSP00000355436:L223V	L	+	1	2	OR2AK2	246195923	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.906000	0.00171	-0.160000	0.11002	0.462000	0.41574	CTA		0.448	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		9	18	0	0	0	0	9	18				
SPAG6	9576	broad.mit.edu	37	10	22690177	22690177	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:22690177C>G	ENST00000376624.3	+	9	1427	c.1285C>G	c.(1285-1287)Ctg>Gtg	p.L429V	SPAG6_ENST00000376601.1_Missense_Mutation_p.L190V|SPAG6_ENST00000376603.2_Missense_Mutation_p.L505V|SPAG6_ENST00000313311.6_Missense_Mutation_p.L429V|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000538630.1_Missense_Mutation_p.L404V|SPAG6_ENST00000490361.1_3'UTR	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	429					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TCCCAATATTCTGAAACATGT	0.348																																						uc001iri.2		NA																	0				breast(1)	1						c.(1285-1287)CTG>GTG		sperm associated antigen 6 isoform 1							91.0	85.0	87.0					10																	22690177		2203	4300	6503	SO:0001583	missense	9576				cell projection organization|spermatid development	axoneme|cilium|cytoplasm|flagellum|microtubule	binding	g.chr10:22690177C>G	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1285C>G	10.37:g.22690177C>G	ENSP00000365811:p.Leu429Val					SPAG6_uc001irj.2_Missense_Mutation_p.L429V|SPAG6_uc010qct.1_Missense_Mutation_p.L399V|SPAG6_uc009xkh.2_Missense_Mutation_p.L407V	p.L429V	NM_012443	NP_036575	O75602	SPAG6_HUMAN			9	1427	+			429					A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Missense_Mutation	SNP	ENST00000376624.3	37	c.1285C>G	CCDS7139.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950507	0.53186	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	T;T;T;T;T;T	0.65178	-0.14;-0.14;0.73;-0.14;0.73;-0.14	5.11	4.09	0.47781	Armadillo-like helical (1);Armadillo-type fold (1);	0.065499	0.64402	D	0.000009	T	0.66645	0.2810	M	0.81239	2.535	0.46437	D	0.999044	B;P;P;B	0.39480	0.403;0.582;0.675;0.403	B;P;B;B	0.45343	0.191;0.477;0.351;0.191	T	0.70490	-0.4857	10	0.59425	D	0.04	-14.286	7.7587	0.28940	0.1778:0.7065:0.0:0.1157	.	404;505;429;429	B4DXZ4;O75602-3;O75602-2;O75602	.;.;.;SPAG6_HUMAN	V	429;505;190;404;190;429	ENSP00000365811:L429V;ENSP00000365788:L505V;ENSP00000365786:L190V;ENSP00000441325:L404V;ENSP00000411111:L190V;ENSP00000323599:L429V	ENSP00000323599:L429V	L	+	1	2	SPAG6	22730183	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.954000	0.40362	2.385000	0.81259	0.650000	0.86243	CTG		0.348	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047187.1			8	26	0	0	0	0	8	26				
OPN4	94233	broad.mit.edu	37	10	88425489	88425489	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:88425489G>T	ENST00000241891.5	+	10	1585	c.1418G>T	c.(1417-1419)aGc>aTc	p.S473I	LDB3_ENST00000372066.3_5'Flank|OPN4_ENST00000372071.2_Missense_Mutation_p.S484I|LDB3_ENST00000352360.5_5'Flank|LDB3_ENST00000310944.6_5'Flank|LDB3_ENST00000372056.4_5'Flank|LDB3_ENST00000361373.4_5'Flank|LDB3_ENST00000429277.2_5'Flank|LDB3_ENST00000458213.2_5'Flank|LDB3_ENST00000542786.1_5'Flank|LDB3_ENST00000263066.6_5'Flank	NM_033282.3	NP_150598.1	Q9UHM6	OPN4_HUMAN	opsin 4	473					phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|rhodopsin mediated signaling pathway (GO:0016056)|rhythmic process (GO:0048511)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	11-cis retinal binding (GO:0005502)|G-protein coupled photoreceptor activity (GO:0008020)	p.S484I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CTGATCCCCAGCCAGGACCCC	0.577																																						uc001kdq.2		NA																	1	Substitution - Missense(1)		breast(1)	ovary(1)	1						c.(1417-1419)AGC>ATC		opsin 4 isoform 1							155.0	137.0	143.0					10																	88425489		2203	4300	6503	SO:0001583	missense	94233				phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity	g.chr10:88425489G>T	AF147788	CCDS7376.1, CCDS31237.1	10q22	2012-08-08	2008-04-16		ENSG00000122375	ENSG00000122375		"""GPCR / Class A : Opsin receptors"""	14449	protein-coding gene	gene with protein product	"""melanopsin"""	606665	"""opsin 4 (melanopsin)"""			10632589	Standard	NM_001030015		Approved	MOP, melanopsin	uc001kdp.3	Q9UHM6	OTTHUMG00000018654	ENST00000241891.5:c.1418G>T	10.37:g.88425489G>T	ENSP00000241891:p.Ser473Ile					LDB3_uc010qml.1_5'Flank|LDB3_uc010qmm.1_5'Flank|LDB3_uc001kdu.2_5'Flank|LDB3_uc001kdv.2_5'Flank|LDB3_uc009xsz.2_5'Flank|OPN4_uc001kdp.2_Missense_Mutation_p.S484I|OPN4_uc010qmk.1_Intron|LDB3_uc001kdr.2_5'Flank|LDB3_uc009xsy.2_5'Flank|LDB3_uc001kds.2_5'Flank|LDB3_uc001kdt.2_5'Flank	p.S473I	NM_033282	NP_150598	Q9UHM6	OPN4_HUMAN			10	1645	+			473			Cytoplasmic (Potential).		B7ZLB3|Q14D01|Q2PP22|Q8NGQ9	Missense_Mutation	SNP	ENST00000241891.5	37	c.1418G>T	CCDS7376.1	.	.	.	.	.	.	.	.	.	.	G	2.520	-0.311014	0.05458	.	.	ENSG00000122375	ENST00000372071;ENST00000241891	T;T	0.32753	1.44;1.44	3.77	1.92	0.25849	.	10.871800	0.00166	N	0.000000	T	0.31575	0.0801	L	0.51422	1.61	0.09310	N	1	B;B	0.32467	0.255;0.372	B;B	0.30855	0.057;0.121	T	0.28586	-1.0039	10	0.56958	D	0.05	.	7.6227	0.28195	0.2077:0.0:0.7923:0.0	.	473;484	Q9UHM6;Q9UHM6-2	OPN4_HUMAN;.	I	484;473	ENSP00000361141:S484I;ENSP00000241891:S473I	ENSP00000241891:S473I	S	+	2	0	OPN4	88415469	0.166000	0.22962	0.004000	0.12327	0.016000	0.09150	1.301000	0.33447	0.575000	0.29434	0.609000	0.83330	AGC		0.577	OPN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049158.2	NM_033282		23	54	1	0	1.11e-09	1.32e-09	23	54				
COX15	1355	broad.mit.edu	37	10	101474430	101474430	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:101474430G>C	ENST00000016171.5	-	9	1197	c.1147C>G	c.(1147-1149)Ctg>Gtg	p.L383V	COX15_ENST00000370483.5_Intron|CUTC_ENST00000493385.1_Intron|COX15_ENST00000497381.1_5'UTR			Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	383					cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		GTGGCGGCCAGAGGAGTTGGG	0.507																																						uc001kqb.3		NA																	0				ovary(1)	1						c.(1147-1149)CTG>GTG		COX15 homolog isoform 1							91.0	87.0	89.0					10																	101474430		2203	4300	6503	SO:0001583	missense	1355				heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr10:101474430G>C	AF044323	CCDS7481.1, CCDS7482.1	10q24	2014-09-17	2012-10-15		ENSG00000014919	ENSG00000014919		"""Mitochondrial respiratory chain complex assembly factors"""	2263	protein-coding gene	gene with protein product		603646	"""COX15 (yeast) homolog, cytochrome c oxidase assembly protein"", ""COX15 homolog, cytochrome c oxidase assembly protein (yeast)"""			9878253	Standard	NM_078470		Approved		uc001kqb.4	Q7KZN9	OTTHUMG00000018893	ENST00000016171.5:c.1147C>G	10.37:g.101474430G>C	ENSP00000016171:p.Leu383Val					COX15_uc001kqc.3_Intron|COX15_uc010qpj.1_Missense_Mutation_p.L204V	p.L383V	NM_078470	NP_510870	Q7KZN9	COX15_HUMAN		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)	9	1764	-		Colorectal(252;0.234)	383			Helical; (Potential).		A8K6I9|O60556|O75878|Q5TD00|Q5TD01|Q7Z3Q3|Q9NTN0	Missense_Mutation	SNP	ENST00000016171.5	37	c.1147C>G	CCDS7482.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669079	0.67814	.	.	ENSG00000014919	ENST00000016171	D	0.83837	-1.77	5.81	-3.85	0.04243	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.77712	2.385	0.45822	D	0.998698	D	0.55800	0.973	P	0.54924	0.764	D	0.83848	0.0261	10	0.72032	D	0.01	-10.8456	10.4559	0.44550	0.3844:0.1078:0.5078:0.0	.	383	Q7KZN9	COX15_HUMAN	V	383	ENSP00000016171:L383V	ENSP00000016171:L383V	L	-	1	2	COX15	101464420	0.006000	0.16342	0.809000	0.32408	0.930000	0.56654	-0.005000	0.12855	-0.742000	0.04790	-0.367000	0.07326	CTG		0.507	COX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049818.1	NP_510870		12	84	0	0	0	0	12	84				
SEC31B	25956	broad.mit.edu	37	10	102247522	102247522	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr10:102247522C>T	ENST00000370345.3	-	26	3488	c.3391G>A	c.(3391-3393)Gag>Aag	p.E1131K		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	1131					protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|vesicle coat (GO:0030120)				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CGGGCAACCTCATGGAGCCCA	0.587																																						uc001krc.1		NA																	0				ovary(1)	1						c.(3391-3393)GAG>AAG		SEC31 homolog B							40.0	39.0	39.0					10																	102247522		2203	4300	6503	SO:0001583	missense	25956				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane		g.chr10:102247522C>T	AF274863	CCDS7495.1	10q24.32	2013-01-10	2006-10-05	2006-09-07	ENSG00000075826	ENSG00000075826		"""WD repeat domain containing"""	23197	protein-coding gene	gene with protein product		610258	"""SEC31-like 2 (S. cerevisiae)"""	SEC31L2		16495487	Standard	NM_015490		Approved	SEC31B-1, DKFZP434M183	uc001krc.1	Q9NQW1	OTTHUMG00000019342	ENST00000370345.3:c.3391G>A	10.37:g.102247522C>T	ENSP00000359370:p.Glu1131Lys					SEC31B_uc010qpo.1_Missense_Mutation_p.E1130K|SEC31B_uc001krd.1_Missense_Mutation_p.E668K|SEC31B_uc001krf.1_Missense_Mutation_p.E564K|SEC31B_uc001kre.1_Missense_Mutation_p.E562K	p.E1131K	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)	26	3493	-		Colorectal(252;0.117)	1131					B7ZM75|Q6MZS3|Q86UF0|Q9Y4Q8	Missense_Mutation	SNP	ENST00000370345.3	37	c.3391G>A	CCDS7495.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093542	0.94149	.	.	ENSG00000075826	ENST00000370345	T	0.51325	0.71	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.67813	0.2933	M	0.77103	2.36	0.80722	D	1	D;D	0.67145	0.996;0.992	D;P	0.63877	0.919;0.831	T	0.71461	-0.4586	10	0.54805	T	0.06	-18.3894	17.0252	0.86443	0.0:1.0:0.0:0.0	.	1130;1131	Q9NQW1-5;Q9NQW1	.;SC31B_HUMAN	K	1131	ENSP00000359370:E1131K	ENSP00000359370:E1131K	E	-	1	0	SEC31B	102237512	0.988000	0.35896	0.962000	0.40283	0.952000	0.60782	2.809000	0.47971	2.492000	0.84095	0.561000	0.74099	GAG		0.587	SEC31B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051198.1	NM_015490		4	31	0	0	0	0	4	31				
OR8H1	219469	broad.mit.edu	37	11	56057964	56057964	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr11:56057964T>C	ENST00000313022.2	-	1	602	c.575A>G	c.(574-576)tAc>tGc	p.Y192C		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	192						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCAATGTCGTATGTGTCCAT	0.443																																						uc010rje.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(574-576)TAC>TGC		olfactory receptor, family 8, subfamily H,							137.0	122.0	127.0					11																	56057964		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56057964T>C	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.575A>G	11.37:g.56057964T>C	ENSP00000323595:p.Tyr192Cys						p.Y192C	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	575	-	Esophageal squamous(21;0.00448)		192			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.575A>G	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	13.73	2.325007	0.41197	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00216	8.53	3.81	-3.77	0.04346	GPCR, rhodopsin-like superfamily (1);	0.521889	0.17814	N	0.161108	T	0.00271	0.0008	M	0.73372	2.23	0.09310	N	1	P	0.49961	0.93	P	0.58391	0.838	T	0.52117	-0.8618	10	0.72032	D	0.01	.	0.5716	0.00696	0.2405:0.2247:0.1229:0.4119	.	192	Q8NGG4	OR8H1_HUMAN	C	192;188	ENSP00000323595:Y192C	ENSP00000323595:Y192C	Y	-	2	0	OR8H1	55814540	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.469000	0.02348	-0.460000	0.07003	-0.380000	0.06706	TAC		0.443	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		14	71	0	0	0	0	14	71				
KMT2D	8085	broad.mit.edu	37	12	49438545	49438545	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:49438545C>A	ENST00000301067.7	-	19	4944	c.4945G>T	c.(4945-4947)Gag>Tag	p.E1649*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1649					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGAGCAGCTCATCGGTGTCC	0.607																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(4945-4947)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							87.0	90.0	89.0					12																	49438545		2069	4201	6270	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49438545C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.4945G>T	12.37:g.49438545C>A	ENSP00000301067:p.Glu1649*	HNSCC(34;0.089)					p.E1649*	NM_003482	NP_003473	O14686	MLL2_HUMAN			19	4945	-			1649					O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.4945G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	45	11.711408	0.99594	.	.	ENSG00000167548	ENST00000301067	.	.	.	5.28	5.28	0.74379	.	0.214071	0.23787	N	0.044572	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8577	0.88771	0.0:1.0:0.0:0.0	.	.	.	.	X	1649	.	ENSP00000301067:E1649X	E	-	1	0	MLL2	47724812	0.998000	0.40836	0.957000	0.39632	0.956000	0.61745	5.057000	0.64294	2.746000	0.94184	0.655000	0.94253	GAG		0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			17	50	1	0	9.77e-05	0.000107738	17	50				
TRHDE	29953	broad.mit.edu	37	12	72666978	72666978	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:72666978C>T	ENST00000261180.4	+	1	516	c.420C>T	c.(418-420)cgC>cgT	p.R140R	TRHDE-AS1_ENST00000426250.3_RNA|TRHDE-AS1_ENST00000550334.1_RNA|TRHDE-AS1_ENST00000435350.1_RNA	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	140					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CGCAGCTGCGCCTGTCGGGCC	0.697																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(418-420)CGC>CGT		thyrotropin-releasing hormone degrading enzyme							31.0	32.0	31.0					12																	72666978		2192	4260	6452	SO:0001819	synonymous_variant	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72666978C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.420C>T	12.37:g.72666978C>T						LOC283392_uc010stv.1_5'UTR	p.R140R	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			1	450	+			140			Extracellular (Potential).		A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	c.420C>T	CCDS9004.1																																																																																				0.697	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		5	25	0	0	0	0	5	25				
CUX2	23316	broad.mit.edu	37	12	111758444	111758444	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:111758444G>A	ENST00000261726.6	+	17	2785	c.2631G>A	c.(2629-2631)aaG>aaA	p.K877K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	877					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCACCCTGAAGCCCACCGTGC	0.701																																						uc001tsa.1		NA																	0				ovary(3)|skin(2)|breast(1)	6						c.(2629-2631)AAG>AAA		cut-like 2							9.0	11.0	10.0					12																	111758444		2169	4269	6438	SO:0001819	synonymous_variant	23316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:111758444G>A	AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2631G>A	12.37:g.111758444G>A							p.K877K	NM_015267	NP_056082	O14529	CUX2_HUMAN			17	2784	+			877					A7E2Y4	Silent	SNP	ENST00000261726.6	37	c.2631G>A	CCDS41837.1																																																																																				0.701	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404765.1	NM_015267		4	12	0	0	0	0	4	12				
TRAFD1	10906	broad.mit.edu	37	12	112578685	112578685	+	Silent	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:112578685C>G	ENST00000257604.5	+	5	917	c.300C>G	c.(298-300)ctC>ctG	p.L100L	TRAFD1_ENST00000412615.2_Silent_p.L100L	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	100					negative regulation of innate immune response (GO:0045824)|response to cytokine (GO:0034097)		metal ion binding (GO:0046872)			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						TTTCCATTCTCAAACTGAAGG	0.463																																						uc001ttp.2		NA																	0					0						c.(298-300)CTC>CTG		TRAF-type zinc finger domain containing 1							90.0	83.0	85.0					12																	112578685		2203	4300	6503	SO:0001819	synonymous_variant	10906				negative regulation of innate immune response	intracellular	protein binding|zinc ion binding	g.chr12:112578685C>G	AB007447	CCDS9160.1	12q24.13	2013-01-25			ENSG00000135148	ENSG00000135148			24808	protein-coding gene	gene with protein product		613197				12477932	Standard	NM_006700		Approved	FLN29	uc001ttp.3	O14545	OTTHUMG00000169640	ENST00000257604.5:c.300C>G	12.37:g.112578685C>G						TRAFD1_uc001tto.2_Silent_p.L100L|TRAFD1_uc009zwb.2_Silent_p.L100L|TRAFD1_uc010syj.1_RNA	p.L100L	NM_006700	NP_006691	O14545	TRAD1_HUMAN			5	386	+			100			TRAF-type.		A8K5L6|B4DI89	Silent	SNP	ENST00000257604.5	37	c.300C>G	CCDS9160.1																																																																																				0.463	TRAFD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405214.1	NM_006700		22	73	0	0	0	0	22	73				
P2RX7	5027	broad.mit.edu	37	12	121605311	121605311	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:121605311G>A	ENST00000546057.1	+	8	908	c.765G>A	c.(763-765)gaG>gaA	p.E255E	P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000443520.3_3'UTR|P2RX7_ENST00000535250.1_Silent_p.E165E|P2RX7_ENST00000328963.5_Silent_p.E85E|P2RX7_ENST00000377162.2_Intron	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	255					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGGCATTGAGATCTACTGGG	0.537																																						uc001tzm.2		NA																	0				large_intestine(2)|lung(1)|breast(1)|skin(1)	5						c.(763-765)GAG>GAA		purinergic receptor P2X7							224.0	168.0	187.0					12																	121605311		2203	4300	6503	SO:0001819	synonymous_variant	5027					integral to membrane	ATP binding|ion channel activity|receptor activity	g.chr12:121605311G>A	Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.765G>A	12.37:g.121605311G>A						P2RX7_uc001tzn.2_Silent_p.E165E|P2RX7_uc001tzo.2_Intron|P2RX7_uc001tzp.2_Intron|P2RX7_uc001tzq.2_Silent_p.E85E	p.E255E	NM_002562	NP_002553	Q99572	P2RX7_HUMAN			8	861	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		255					A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	ENST00000546057.1	37	c.765G>A	CCDS9213.1																																																																																				0.537	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402532.1	NM_002562		16	80	0	0	0	0	16	80				
DNAH10	196385	broad.mit.edu	37	12	124268604	124268604	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124268604C>T	ENST00000409039.3	+	8	952	c.927C>T	c.(925-927)atC>atT	p.I309I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	309	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGATGTGATCAAGGAATCCG	0.463																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(925-927)ATC>ATT		dynein, axonemal, heavy chain 10							151.0	130.0	137.0					12																	124268604		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124268604C>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.927C>T	12.37:g.124268604C>T							p.I309I	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	8	952	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		309			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.927C>T	CCDS9255.2																																																																																				0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			28	41	0	0	0	0	28	41				
DNAH10	196385	broad.mit.edu	37	12	124285882	124285882	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:124285882G>A	ENST00000409039.3	+	15	2188	c.2163G>A	c.(2161-2163)acG>acA	p.T721T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	721	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATAGGAACGTTAAACGATG	0.463																																						uc001uft.3		NA																	0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(2161-2163)ACG>ACA		dynein, axonemal, heavy chain 10							285.0	245.0	258.0					12																	124285882		2203	4300	6503	SO:0001819	synonymous_variant	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124285882G>A	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2163G>A	12.37:g.124285882G>A						DNAH10_uc010tav.1_Silent_p.T263T|DNAH10_uc010taw.1_Silent_p.T206T	p.T721T	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	15	2188	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		721			Stem (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	c.2163G>A	CCDS9255.2																																																																																				0.463	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			69	164	0	0	0	0	69	164				
PIWIL1	9271	broad.mit.edu	37	12	130827639	130827639	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr12:130827639G>A	ENST00000245255.3	+	3	455	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	61					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAACAGCCAAGTCACAAGGTG	0.438																																						uc001uik.2		NA																	0				ovary(2)	2						c.(181-183)AAG>AAA		piwi-like 1							63.0	52.0	56.0					12																	130827639		2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130827639G>A	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.183G>A	12.37:g.130827639G>A						PIWIL1_uc001uij.1_Silent_p.K61K	p.K61K	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	3	273	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		61					A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.183G>A	CCDS9268.1																																																																																				0.438	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			9	14	0	0	0	0	9	14				
ARL11	115761	broad.mit.edu	37	13	50204602	50204602	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:50204602A>G	ENST00000282026.1	+	2	354	c.19A>G	c.(19-21)Aga>Gga	p.R7G	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	7					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGTGAATTCCAGAGGTCACAA	0.572																																						uc001vdf.1		NA																	0					0						c.(19-21)AGA>GGA		ADP-ribosylation factor-like 11							68.0	72.0	71.0					13																	50204602		2203	4300	6503	SO:0001583	missense	115761				small GTPase mediated signal transduction	intracellular	GTP binding|protein binding	g.chr13:50204602A>G	AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.19A>G	13.37:g.50204602A>G	ENSP00000282026:p.Arg7Gly						p.R7G	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)	2	165	+		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	7						Missense_Mutation	SNP	ENST00000282026.1	37	c.19A>G	CCDS9419.1	.	.	.	.	.	.	.	.	.	.	A	18.98	3.737071	0.69304	.	.	ENSG00000152213	ENST00000282026	T	0.61158	0.13	5.09	4.0	0.46444	.	0.984427	0.08280	N	0.970009	T	0.46698	0.1406	L	0.29908	0.895	0.31263	N	0.692645	P	0.39352	0.669	B	0.35182	0.197	T	0.49513	-0.8932	10	0.72032	D	0.01	.	10.5977	0.45347	0.7818:0.2182:0.0:0.0	.	7	Q969Q4	ARL11_HUMAN	G	7	ENSP00000282026:R7G	ENSP00000282026:R7G	R	+	1	2	ARL11	49102603	1.000000	0.71417	0.889000	0.34880	0.901000	0.52897	3.819000	0.55686	0.898000	0.36418	0.533000	0.62120	AGA		0.572	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044929.2	NM_138450		13	106	0	0	0	0	13	106				
LIG4	3981	broad.mit.edu	37	13	108861732	108861732	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:108861732T>A	ENST00000356922.4	-	2	2157	c.1885A>T	c.(1885-1887)Aaa>Taa	p.K629*	LIG4_ENST00000442234.1_Nonsense_Mutation_p.K629*|LIG4_ENST00000405925.1_Nonsense_Mutation_p.K629*	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	629					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|chromosome organization (GO:0051276)|DNA biosynthetic process (GO:0071897)|DNA ligation (GO:0006266)|DNA ligation involved in DNA recombination (GO:0051102)|DNA ligation involved in DNA repair (GO:0051103)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|in utero embryonic development (GO:0001701)|isotype switching (GO:0045190)|lagging strand elongation (GO:0006273)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neurogenesis (GO:0050769)|pro-B cell differentiation (GO:0002328)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|single strand break repair (GO:0000012)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA ligase IV complex (GO:0032807)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|focal adhesion (GO:0005925)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					GGGGCAGCTTTCCGCTTTTTT	0.383								Non-homologous end-joining																														uc001vqn.2		NA																	0					0						c.(1885-1887)AAA>TAA	NHEJ	DNA ligase IV							72.0	73.0	73.0					13																	108861732		2203	4300	6503	SO:0001587	stop_gained	3981				cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	g.chr13:108861732T>A	X83441	CCDS9508.1	13q33-q34	2014-09-17			ENSG00000174405	ENSG00000174405	6.5.1.1		6601	protein-coding gene	gene with protein product	"""polydeoxyribonucleotide synthase [ATP] 4"", ""polynucleotide ligase"", ""sealase"", ""DNA repair enzyme"", ""DNA joinase"""	601837				7760816	Standard	NM_001098268		Approved		uc001vqo.3	P49917	OTTHUMG00000017328	ENST00000356922.4:c.1885A>T	13.37:g.108861732T>A	ENSP00000349393:p.Lys629*					LIG4_uc001vqo.2_Nonsense_Mutation_p.K629*|LIG4_uc010agg.1_Nonsense_Mutation_p.K562*|LIG4_uc010agf.2_Nonsense_Mutation_p.K629*|LIG4_uc001vqp.2_Nonsense_Mutation_p.K629*	p.K629*	NM_002312	NP_002303	P49917	DNLI4_HUMAN			2	2158	-	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)		629					Q8IY66|Q8TEU5	Nonsense_Mutation	SNP	ENST00000356922.4	37	c.1885A>T	CCDS9508.1	.	.	.	.	.	.	.	.	.	.	T	35	5.434223	0.96150	.	.	ENSG00000174405	ENST00000405925;ENST00000442234;ENST00000356922	.	.	.	5.74	5.74	0.90152	.	0.330547	0.35585	N	0.003118	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2152	0.73261	0.0:0.0:0.0:1.0	.	.	.	.	X	629	.	ENSP00000349393:K629X	K	-	1	0	LIG4	107659733	1.000000	0.71417	0.365000	0.25901	0.006000	0.05464	7.633000	0.83260	2.178000	0.69098	0.450000	0.29827	AAA		0.383	LIG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045738.4	NM_002312		22	51	0	0	0	0	22	51				
COL4A1	1282	broad.mit.edu	37	13	110829000	110829000	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr13:110829000C>G	ENST00000375820.4	-	35	3062	c.2941G>C	c.(2941-2943)Ggg>Cgg	p.G981R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	981	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCTGCCCGTCCTTTCCA	0.577																																						uc001vqw.3		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(2941-2943)GGG>CGG		alpha 1 type IV collagen preproprotein							55.0	54.0	55.0					13																	110829000		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110829000C>G	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2941G>C	13.37:g.110829000C>G	ENSP00000364979:p.Gly981Arg					COL4A1_uc010agl.2_Intron	p.G981R	NM_001845	NP_001836	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		35	3063	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	981			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2941G>C	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056093	0.76074	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99353	-5.77	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97530	1.0079	10	0.66056	D	0.02	.	20.6244	0.99512	0.0:1.0:0.0:0.0	.	981	P02462	CO4A1_HUMAN	R	624;981;630	ENSP00000364979:G981R	ENSP00000364973:G624R	G	-	1	0	COL4A1	109627001	1.000000	0.71417	0.900000	0.35374	0.196000	0.23810	7.156000	0.77453	2.879000	0.98667	0.650000	0.86243	GGG		0.577	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			15	43	0	0	0	0	15	43				
KIAA0247	9766	broad.mit.edu	37	14	70175519	70175519	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:70175519G>C	ENST00000342745.4	+	5	897	c.584G>C	c.(583-585)aGa>aCa	p.R195T		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	195						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GCTGACCCCAGAGTACAGATT	0.592																																						uc001xlk.2		NA																	0				ovary(3)	3						c.(583-585)AGA>ACA		hypothetical protein LOC9766 precursor							83.0	80.0	81.0					14																	70175519		2203	4300	6503	SO:0001583	missense	9766					integral to membrane		g.chr14:70175519G>C	D87434	CCDS9796.1	14q24.1	2012-11-29			ENSG00000100647	ENSG00000100647			19956	protein-coding gene	gene with protein product						9039502	Standard	NM_014734		Approved		uc001xlk.3	Q92537	OTTHUMG00000171234	ENST00000342745.4:c.584G>C	14.37:g.70175519G>C	ENSP00000344424:p.Arg195Thr					KIAA0247_uc010aqz.2_Missense_Mutation_p.R170T	p.R195T	NM_014734	NP_055549	Q92537	K0247_HUMAN		all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)	5	900	+			195			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342745.4	37	c.584G>C	CCDS9796.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522446	0.64747	.	.	ENSG00000100647	ENST00000342745	T	0.67698	-0.28	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.72424	-0.4298	10	0.11485	T	0.65	-13.0933	19.1621	0.93537	0.0:0.0:1.0:0.0	.	195	Q92537	K0247_HUMAN	T	195	ENSP00000344424:R195T	ENSP00000344424:R195T	R	+	2	0	KIAA0247	69245272	1.000000	0.71417	1.000000	0.80357	0.423000	0.31445	9.476000	0.97823	2.513000	0.84729	0.563000	0.77884	AGA		0.592	KIAA0247-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412453.1	NM_014734		18	89	0	0	0	0	18	89				
C14orf79	122616	broad.mit.edu	37	14	105457937	105457937	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr14:105457937G>A	ENST00000547315.1	+	3	1318	c.679G>A	c.(679-681)Gga>Aga	p.G227R	C14orf79_ENST00000550614.1_5'UTR|C14orf79_ENST00000549240.1_5'UTR|C14orf79_ENST00000549584.1_3'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	227								p.G227*(1)		breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCTTGTTCTCGGAATAGATGC	0.562																																						uc001ypy.1		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(679-681)GGA>AGA		hypothetical protein LOC122616							131.0	120.0	124.0					14																	105457937		1931	4144	6075	SO:0001583	missense	122616							g.chr14:105457937G>A		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	ENST00000547315.1:c.679G>A	14.37:g.105457937G>A	ENSP00000450114:p.Gly227Arg					C14orf79_uc001ypz.1_RNA|C14orf79_uc010tym.1_RNA	p.G227R	NM_174891	NP_777551	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		3	832	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	227					B2RPK9|Q9BTP4	Missense_Mutation	SNP	ENST00000547315.1	37	c.679G>A	CCDS42000.1	.	.	.	.	.	.	.	.	.	.	g	9.035	0.988181	0.18966	.	.	ENSG00000140104	ENST00000547315	.	.	.	3.79	0.899	0.19271	.	0.389501	0.18160	N	0.149805	T	0.55986	0.1955	M	0.69823	2.125	0.24667	N	0.993439	D	0.89917	1.0	D	0.74674	0.984	T	0.46359	-0.9197	9	0.87932	D	0	-8.2232	6.0152	0.19598	0.356:0.0:0.644:0.0	.	227	Q96F83	CN079_HUMAN	R	227	.	ENSP00000450114:G227R	G	+	1	0	C14orf79	104528982	0.799000	0.28903	0.001000	0.08648	0.000000	0.00434	1.529000	0.35996	-0.118000	0.11851	-0.915000	0.02750	GGA		0.562	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	NM_174891		42	70	0	0	0	0	42	70				
APBA2	321	broad.mit.edu	37	15	29390768	29390768	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:29390768G>T	ENST00000558402.1	+	10	1926	c.1327G>T	c.(1327-1329)Gca>Tca	p.A443S	APBA2_ENST00000411764.1_Missense_Mutation_p.A431S|APBA2_ENST00000558259.1_Missense_Mutation_p.A443S|APBA2_ENST00000561069.1_Missense_Mutation_p.A443S|APBA2_ENST00000558330.1_Missense_Mutation_p.A431S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	443	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGTTTTAAATGCAGACACGCA	0.468																																						uc001zck.2		NA																	0					0						c.(1327-1329)GCA>TCA		amyloid beta A4 precursor protein-binding,							99.0	92.0	95.0					15																	29390768		2203	4300	6503	SO:0001583	missense	321				nervous system development|protein transport		protein binding	g.chr15:29390768G>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1327G>T	15.37:g.29390768G>T	ENSP00000453293:p.Ala443Ser					APBA2_uc010azj.2_Missense_Mutation_p.A431S|APBA2_uc010uat.1_Missense_Mutation_p.A431S|APBA2_uc001zcl.2_Missense_Mutation_p.A431S|APBA2_uc001zcm.1_Missense_Mutation_p.A135S	p.A443S	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	8	1534	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	443			PID.		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	ENST00000558402.1	37	c.1327G>T	CCDS10022.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728823	0.89390	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.20463	2.07	4.93	4.93	0.64822	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.43010	0.1228	L	0.54323	1.7	0.80722	D	1	P;D;D;P	0.76494	0.875;0.999;0.993;0.616	P;D;D;P	0.79108	0.683;0.992;0.929;0.656	T	0.26292	-1.0107	10	0.54805	T	0.06	.	17.5045	0.87741	0.0:0.0:1.0:0.0	.	431;135;431;443	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	S	431;443;135	ENSP00000409312:A431S	ENSP00000219865:A443S	A	+	1	0	APBA2	27178060	1.000000	0.71417	0.933000	0.37362	0.822000	0.46500	9.565000	0.98154	2.406000	0.81754	0.655000	0.94253	GCA		0.468	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		7	50	1	0	0.00198382	0.00209747	7	50				
ARHGAP11A	9824	broad.mit.edu	37	15	32921801	32921801	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:32921801C>T	ENST00000361627.3	+	8	1665	c.943C>T	c.(943-945)Cta>Tta	p.L315L	ARHGAP11A_ENST00000563864.1_Silent_p.L315L|ARHGAP11A_ENST00000567348.1_Silent_p.L315L|ARHGAP11A_ENST00000543522.1_Silent_p.L126L|ARHGAP11A_ENST00000565905.1_Silent_p.L126L	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	315					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTCAGCCCAGCTATCTGAATC	0.343																																					Colon(45;757 1134 30003 36652)	uc001zgy.1		NA																	0				skin(3)|breast(2)|urinary_tract(1)	6						c.(943-945)CTA>TTA		Rho GTPase activating protein 11A isoform 1							114.0	115.0	115.0					15																	32921801		2201	4300	6501	SO:0001819	synonymous_variant	9824				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr15:32921801C>T	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.943C>T	15.37:g.32921801C>T						ARHGAP11A_uc010ubw.1_Silent_p.L126L|ARHGAP11A_uc001zgw.2_Silent_p.L315L|ARHGAP11A_uc001zgx.2_Silent_p.L315L|ARHGAP11A_uc010ubx.1_Silent_p.L126L	p.L315L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	8	1665	+		all_lung(180;1.3e-11)	315					B4DZN9|Q6PI96|Q9Y3S6	Silent	SNP	ENST00000361627.3	37	c.943C>T	CCDS10028.1																																																																																				0.343	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783		9	84	0	0	0	0	9	84				
PLA2G4F	255189	broad.mit.edu	37	15	42439928	42439928	+	Silent	SNP	A	A	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:42439928A>C	ENST00000382396.4	-	12	1178	c.1092T>G	c.(1090-1092)ggT>ggG	p.G364G	PLA2G4F_ENST00000397272.3_Silent_p.G366G			Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	364	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid secretion (GO:0050482)|cellular response to antibiotic (GO:0071236)|cellular response to organic cyclic compound (GO:0071407)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|ruffle membrane (GO:0032587)|vesicle (GO:0031982)	calcium-dependent phospholipase A2 activity (GO:0047498)|lysophospholipase activity (GO:0004622)|metal ion binding (GO:0046872)	p.G364G(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCGGGTTCCACCCCCGGAAC	0.547																																						uc001zoz.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(4)	4						c.(1090-1092)GGT>GGG		phospholipase A2, group IVF							51.0	55.0	54.0					15																	42439928		2203	4299	6502	SO:0001819	synonymous_variant	255189				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity	g.chr15:42439928A>C		CCDS32204.1	15q15.1	2008-09-19				ENSG00000168907	3.1.1.4		27396	protein-coding gene	gene with protein product						14702039, 15866882	Standard	NM_213600		Approved	PLA2G4F/Z	uc001zoz.3	Q68DD2		ENST00000382396.4:c.1092T>G	15.37:g.42439928A>C						PLA2G4F_uc010bcq.2_5'Flank|PLA2G4F_uc001zoy.2_5'UTR|PLA2G4F_uc010bcr.2_Silent_p.G115G|PLA2G4F_uc001zpa.2_Silent_p.G115G|PLA2G4F_uc010bcs.2_Silent_p.G151G	p.G364G	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	12	1155	-		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)	364			PLA2c.		Q6ZMC8	Silent	SNP	ENST00000382396.4	37	c.1092T>G	CCDS32204.1																																																																																				0.547	PLA2G4F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000420463.1	NM_213600		11	56	0	0	0	0	11	56				
UBL7	84993	broad.mit.edu	37	15	74738533	74738533	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:74738533G>A	ENST00000567435.1	-	11	1504	c.1041C>T	c.(1039-1041)gaC>gaT	p.D347D	UBL7_ENST00000361351.4_Silent_p.D347D|UBL7_ENST00000565335.1_Silent_p.D347D|UBL7_ENST00000564488.1_Silent_p.D347D|UBL7_ENST00000395081.2_Silent_p.D347D			Q96S82	UBL7_HUMAN	ubiquitin-like 7	347	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GGATGCCCATGTCACGTAGCT	0.602																																						uc002axw.1		NA																	0				ovary(1)	1						c.(1039-1041)GAC>GAT		ubiquitin-like 7							57.0	59.0	58.0					15																	74738533		2197	4296	6493	SO:0001819	synonymous_variant	84993						protein binding	g.chr15:74738533G>A	BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001	ENST00000567435.1:c.1041C>T	15.37:g.74738533G>A						UBL7_uc002axx.1_Silent_p.D387D|UBL7_uc010bjr.1_Silent_p.D238D|UBL7_uc002axy.1_Silent_p.D347D|UBL7_uc002axz.1_Silent_p.D347D	p.D347D	NM_032907	NP_116296	Q96S82	UBL7_HUMAN			11	1203	-			347			UBA.		D3DW57|Q96I03	Silent	SNP	ENST00000567435.1	37	c.1041C>T	CCDS10263.1																																																																																				0.602	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419627.1	NM_032907, NM_201265		17	89	0	0	0	0	17	89				
ZSCAN2	54993	broad.mit.edu	37	15	85164982	85164982	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:85164982T>C	ENST00000448803.2	+	3	1848	c.1556T>C	c.(1555-1557)gTg>gCg	p.V519A	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.V518A|ZSCAN2_ENST00000358472.3_Missense_Mutation_p.V369A|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.V519A	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	519					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CAGCTCGTAGTGCACCAGCGG	0.592																																						uc002bkr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1555-1557)GTG>GCG		zinc finger protein 29 isoform 1							105.0	106.0	106.0					15																	85164982		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85164982T>C	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1556T>C	15.37:g.85164982T>C	ENSP00000410198:p.Val519Ala					ZSCAN2_uc010bmz.1_Missense_Mutation_p.V517A|ZSCAN2_uc010bna.2_Missense_Mutation_p.V369A|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron|ZSCAN2_uc010uoz.1_Intron	p.V519A	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	1782	+			519			C2H2-type 11.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.1556T>C	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	T	4.811	0.150876	0.09185	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000379353	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	4.98	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.264886	0.26673	N	0.023081	T	0.06371	0.0164	N	0.04090	-0.28	0.58432	D	0.999999	B;B	0.13145	0.007;0.0	B;B	0.18263	0.021;0.002	T	0.28744	-1.0034	9	.	.	.	-20.2304	5.9422	0.19199	0.0:0.2928:0.0:0.7072	.	519;519	A8K5A9;Q7Z7L9	.;ZSCA2_HUMAN	A	519;519;369;518;500	ENSP00000410198:V519A;ENSP00000445451:V519A;ENSP00000351257:V369A;ENSP00000325123:V518A	.	V	+	2	0	ZSCAN2	82965986	0.000000	0.05858	1.000000	0.80357	0.937000	0.57800	-2.107000	0.01337	0.738000	0.32606	0.533000	0.62120	GTG		0.592	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		30	147	0	0	0	0	30	147				
KLHL25	64410	broad.mit.edu	37	15	86312285	86312285	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr15:86312285C>T	ENST00000337975.5	-	2	1031	c.757G>A	c.(757-759)Gag>Aag	p.E253K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E253K|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	253					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGGAGGGCCTCGCTGGAGACG	0.657																																						uc002bly.2		NA																	0				ovary(2)	2						c.(757-759)GAG>AAG		BTB/POZ KELCH domain protein							33.0	29.0	30.0					15																	86312285		2202	4299	6501	SO:0001583	missense	64410					cytoplasm		g.chr15:86312285C>T		CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.757G>A	15.37:g.86312285C>T	ENSP00000336800:p.Glu253Lys						p.E253K	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN			2	960	-			253					B2RDH2|B3KRT7	Missense_Mutation	SNP	ENST00000337975.5	37	c.757G>A	CCDS10339.1	.	.	.	.	.	.	.	.	.	.	C	17.80	3.478084	0.63849	.	.	ENSG00000183655	ENST00000337975;ENST00000538153;ENST00000536947	T;T	0.72505	-0.66;-0.66	5.23	4.3	0.51218	.	0.191024	0.43260	D	0.000597	T	0.73079	0.3541	M	0.62723	1.935	0.53688	D	0.999979	D	0.61080	0.989	P	0.47981	0.563	T	0.77250	-0.2657	10	0.72032	D	0.01	.	14.9022	0.70687	0.0:0.8559:0.1441:0.0	.	253	Q9H0H3	ENC2_HUMAN	K	253;222;253	ENSP00000336800:E253K;ENSP00000444739:E253K	ENSP00000336800:E253K	E	-	1	0	KLHL25	84113289	1.000000	0.71417	0.734000	0.30879	0.730000	0.41778	6.064000	0.71169	1.198000	0.43158	0.456000	0.33151	GAG		0.657	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		8	23	0	0	0	0	8	23				
TMEM8A	58986	broad.mit.edu	37	16	426289	426289	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:426289C>T	ENST00000431232.2	-	6	1231	c.1071G>A	c.(1069-1071)acG>acA	p.T357T	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Silent_p.T164T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	357					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						TGTCCTCCCGCGTGACTGGGT	0.672																																						uc002cgu.3		NA																	0				central_nervous_system(2)|pancreas(1)	3						c.(1069-1071)ACG>ACA		transmembrane protein 8 (five membrane-spanning							96.0	75.0	82.0					16																	426289		2201	4300	6501	SO:0001819	synonymous_variant	58986				cell adhesion	integral to plasma membrane		g.chr16:426289C>T	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1071G>A	16.37:g.426289C>T						TMEM8A_uc002cgv.3_Silent_p.T164T	p.T357T	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN			6	1200	-			357			Extracellular (Potential).		D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Silent	SNP	ENST00000431232.2	37	c.1071G>A	CCDS10407.1																																																																																				0.672	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		31	74	0	0	0	0	31	74				
GRIN2A	2903	broad.mit.edu	37	16	9857175	9857175	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:9857175G>A	ENST00000396573.2	-	14	4535	c.4226C>T	c.(4225-4227)gCa>gTa	p.A1409V	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.A1409V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.A1409V|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1409					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	ACAGTACGATGCCGTTGACCT	0.502																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(4225-4227)GCA>GTA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						110.0	94.0	99.0					16																	9857175		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857175G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.4226C>T	16.37:g.9857175G>A	ENSP00000379818:p.Ala1409Val					GRIN2A_uc010uym.1_Missense_Mutation_p.A1409V|GRIN2A_uc010uyn.1_3'UTR|GRIN2A_uc002czr.3_3'UTR	p.A1409V	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	4774	-			1409			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.4226C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245857	0.59103	.	.	ENSG00000183454	ENST00000396573;ENST00000330684;ENST00000396575	T;T;T	0.13657	2.57;2.57;2.57	5.79	4.81	0.61882	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.270266	0.42682	D	0.000663	T	0.13628	0.0330	L	0.47716	1.5	0.80722	D	1	P	0.39352	0.669	B	0.34931	0.192	T	0.03933	-1.0991	9	.	.	.	.	15.6956	0.77494	0.0:0.1372:0.8628:0.0	.	1409	Q12879	NMDE1_HUMAN	V	1409	ENSP00000379818:A1409V;ENSP00000332549:A1409V;ENSP00000379820:A1409V	.	A	-	2	0	GRIN2A	9764676	1.000000	0.71417	0.942000	0.38095	0.998000	0.95712	7.520000	0.81821	1.396000	0.46663	0.655000	0.94253	GCA		0.502	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			19	41	0	0	0	0	19	41				
CNGB1	1258	broad.mit.edu	37	16	57994804	57994804	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:57994804C>T	ENST00000251102.8	-	8	534	c.474G>A	c.(472-474)ctG>ctA	p.L158L	CNGB1_ENST00000564448.1_Silent_p.L158L|CNGB1_ENST00000311183.4_Silent_p.L158L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	158					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCCACAGAAGCAGCCGCAGCC	0.622																																					Colon(156;1293 1853 16336 28962 38659)	uc002emt.2		NA																	0				breast(3)|pancreas(1)	4						c.(472-474)CTG>CTA		cyclic nucleotide gated channel beta 1 isoform							24.0	32.0	29.0					16																	57994804		2019	4185	6204	SO:0001819	synonymous_variant	1258				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	g.chr16:57994804C>T	AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.474G>A	16.37:g.57994804C>T						CNGB1_uc010cdh.2_Silent_p.L158L|CNGB1_uc002emu.2_Silent_p.L158L	p.L158L	NM_001297	NP_001288	Q14028	CNGB1_HUMAN			8	539	-			158					H3BN09|O43636|Q13059|Q14029|Q9UMG2	Silent	SNP	ENST00000251102.8	37	c.474G>A	CCDS42169.1																																																																																				0.622	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337167.2	NM_001297		3	22	0	0	0	0	3	22				
DPEP3	64180	broad.mit.edu	37	16	68011733	68011733	+	Splice_Site	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:68011733C>G	ENST00000268793.4	-	6	1205		c.e6-1		DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3						male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTACTACTTTCTGCAGAAACA	0.498																																						uc002evc.3		NA																	0				breast(3)	3						c.e6-1		dipeptidase 3 isoform a							64.0	61.0	62.0					16																	68011733		2198	4300	6498	SO:0001630	splice_region_variant	64180				meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	g.chr16:68011733C>G	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.832-1G>C	16.37:g.68011733C>G						DPEP3_uc010cex.2_Splice_Site_p.K278_splice	p.K278_splice	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)	6	926	-		Ovarian(137;0.192)						B3KQ48|Q6PEZ5|Q6UXE4	Splice_Site	SNP	ENST00000268793.4	37	c.832_splice	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	C	14.27	2.485985	0.44147	.	.	ENSG00000141096	ENST00000268793	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9447	0.79784	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DPEP3	66569234	1.000000	0.71417	1.000000	0.80357	0.367000	0.29736	7.287000	0.78681	2.287000	0.76781	0.555000	0.69702	.		0.498	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	Intron	3	24	0	0	0	0	3	24				
HYDIN	54768	broad.mit.edu	37	16	70926425	70926425	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr16:70926425C>A	ENST00000393567.2	-	56	9406	c.9256G>T	c.(9256-9258)Gtg>Ttg	p.V3086L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3086					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACAGAGTCCACGGAAAAGCTG	0.453																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(9253-9255)GTG>TTG		hydrocephalus inducing isoform a							65.0	59.0	61.0					16																	70926425		1832	4097	5929	SO:0001583	missense	54768							g.chr16:70926425C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9256G>T	16.37:g.70926425C>A	ENSP00000377197:p.Val3086Leu						p.V3085L	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			56	9381	-		Ovarian(137;0.0654)	3086					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9253G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.221	-1.028380	0.02045	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00753	5.74	5.07	3.01	0.34805	.	0.416196	0.14505	U	0.315465	T	0.00608	0.0020	N	0.25201	0.72	0.80722	D	1	B	0.21606	0.058	B	0.19391	0.025	T	0.39583	-0.9607	10	0.02654	T	1	.	8.2846	0.31922	0.2539:0.5648:0.1813:0.0	.	3085	F8WD23	.	L	3086;3085	ENSP00000377197:V3086L	ENSP00000313052:V3085L	V	-	1	0	HYDIN	69483926	0.961000	0.32948	0.923000	0.36655	0.507000	0.33981	1.894000	0.39768	1.115000	0.41800	0.436000	0.28706	GTG		0.453	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			9	53	1	0	7.48e-07	8.53e-07	9	53				
ITGAE	3682	broad.mit.edu	37	17	3661071	3661071	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:3661071C>G	ENST00000263087.4	-	9	1047	c.949G>C	c.(949-951)Gag>Cag	p.E317Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	317	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGGGGGTCCTCGAATATGCCA	0.562																																					NSCLC(182;635 2928 8995 38788)	uc002fwo.3		NA																	0				large_intestine(2)|breast(1)|pancreas(1)	4						c.(949-951)GAG>CAG		integrin, alpha E precursor							225.0	210.0	215.0					17																	3661071		2203	4300	6503	SO:0001583	missense	3682				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr17:3661071C>G	L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.949G>C	17.37:g.3661071C>G	ENSP00000263087:p.Glu317Gln						p.E317Q	NM_002208	NP_002199	P38570	ITAE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)	9	1048	-			317			VWFA.|Extracellular (Potential).		Q17RS6|Q9NZU9	Missense_Mutation	SNP	ENST00000263087.4	37	c.949G>C	CCDS32531.1	.	.	.	.	.	.	.	.	.	.	C	5.814	0.334423	0.11013	.	.	ENSG00000083457	ENST00000263087	D	0.84070	-1.8	5.56	-6.94	0.01633	von Willebrand factor, type A (3);	.	.	.	.	T	0.52092	0.1713	N	0.02247	-0.625	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.45056	-0.9287	9	0.20519	T	0.43	.	4.074	0.09895	0.0857:0.2007:0.4404:0.2732	.	317	P38570	ITAE_HUMAN	Q	317	ENSP00000263087:E317Q	ENSP00000263087:E317Q	E	-	1	0	ITGAE	3607820	0.000000	0.05858	0.000000	0.03702	0.462000	0.32619	-3.044000	0.00631	-1.112000	0.02984	-0.413000	0.06143	GAG		0.562	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438169.1	NM_002208		33	239	0	0	0	0	33	239				
TP53	7157	broad.mit.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	p.?(25)|p.0?(7)|p.E258fs*71(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e7+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							121.0	85.0	97.0					17																	7577498		2203	4300	6503	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577498C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.R261_splice|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice	p.S261_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	976	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.782_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	10	30	0	0	0	0	10	30				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	44	0	0	0	0	19	44				
ABCA6	23460	broad.mit.edu	37	17	67092867	67092867	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:67092867C>T	ENST00000284425.2	-	24	3370	c.3196G>A	c.(3196-3198)Gtc>Atc	p.V1066I	MIR4524B_ENST00000581569.1_RNA|ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1066					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAGAAGCTGACGTCCACTAGT	0.353																																						uc002jhw.1		NA																	0				upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(3196-3198)GTC>ATC		ATP-binding cassette, sub-family A, member 6							37.0	41.0	39.0					17																	67092867		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67092867C>T	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.3196G>A	17.37:g.67092867C>T	ENSP00000284425:p.Val1066Ile						p.V1066I	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			24	3371	-	Breast(10;5.65e-12)		1066			Helical; (Potential).		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.3196G>A	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	0.530	-0.858490	0.02610	.	.	ENSG00000154262	ENST00000284425	T	0.81078	-1.45	4.52	-6.28	0.02020	.	0.534254	0.16794	N	0.199278	T	0.52980	0.1768	N	0.13235	0.315	0.09310	N	1	B	0.16166	0.016	B	0.17979	0.02	T	0.54146	-0.8337	10	0.02654	T	1	.	8.4592	0.32917	0.0:0.5596:0.1355:0.3049	.	1066	Q8N139	ABCA6_HUMAN	I	1066	ENSP00000284425:V1066I	ENSP00000284425:V1066I	V	-	1	0	ABCA6	64604462	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.807000	0.04520	-1.517000	0.01780	-0.237000	0.12165	GTC		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		6	19	0	0	0	0	6	19				
OTOP2	92736	broad.mit.edu	37	17	72927021	72927021	+	Missense_Mutation	SNP	G	G	T	rs202152813		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:72927021G>T	ENST00000580223.1	+	5	1321	c.1291G>T	c.(1291-1293)Ggg>Tgg	p.G431W	OTOP2_ENST00000331427.4_Missense_Mutation_p.G431W			Q7RTS6	OTOP2_HUMAN	otopetrin 2	431						integral component of membrane (GO:0016021)		p.G431R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGACCGCCCGGGGCTGAGCC	0.622																																						uc010wrp.1		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(3)|large_intestine(1)	4						c.(1291-1293)GGG>TGG		otopetrin 2							97.0	80.0	86.0					17																	72927021		2203	4300	6503	SO:0001583	missense	92736					integral to membrane		g.chr17:72927021G>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.1291G>T	17.37:g.72927021G>T	ENSP00000463837:p.Gly431Trp						p.G431W	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			7	1380	+	all_lung(278;0.172)|Lung NSC(278;0.207)		431						Missense_Mutation	SNP	ENST00000580223.1	37	c.1291G>T	CCDS11708.1	.	.	.	.	.	.	.	.	.	.	G	5.365	0.252632	0.10185	.	.	ENSG00000183034	ENST00000331427	T	0.25414	1.8	5.2	0.949	0.19566	.	0.929982	0.09288	N	0.822784	T	0.24890	0.0604	N	0.08118	0	0.09310	N	1	D	0.60575	0.988	P	0.60473	0.875	T	0.35025	-0.9805	10	0.40728	T	0.16	-14.2922	9.6199	0.39714	0.4441:0.0:0.5559:0.0	.	431	Q7RTS6	OTOP2_HUMAN	W	431	ENSP00000332528:G431W	ENSP00000332528:G431W	G	+	1	0	OTOP2	70438616	0.011000	0.17503	0.003000	0.11579	0.030000	0.12068	1.517000	0.35867	0.309000	0.22966	-0.368000	0.07277	GGG		0.622	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160		7	97	1	0	1.07e-07	1.24e-07	7	97				
QRICH2	84074	broad.mit.edu	37	17	74287585	74287585	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr17:74287585G>A	ENST00000262765.5	-	4	2904	c.2725C>T	c.(2725-2727)Caa>Taa	p.Q909*		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	909										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ACATGCTGTTGATCTGGGTGT	0.512																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2725-2727)CAA>TAA		glutamine rich 2							124.0	104.0	111.0					17																	74287585		2203	4300	6503	SO:0001587	stop_gained	84074						protein binding	g.chr17:74287585G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2725C>T	17.37:g.74287585G>A	ENSP00000262765:p.Gln909*					QRICH2_uc010wsz.1_Nonsense_Mutation_p.Q835*|QRICH2_uc010dgw.1_Intron	p.Q909*	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	2905	-			909					A2RRE1|Q96LM3	Nonsense_Mutation	SNP	ENST00000262765.5	37	c.2725C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	41	8.676973	0.98910	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	.	.	.	4.34	3.29	0.37713	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.3242	9.9809	0.41813	0.0:0.0:0.7987:0.2013	.	.	.	.	X	909	.	ENSP00000262765:Q909X	Q	-	1	0	QRICH2	71799180	0.092000	0.21681	0.008000	0.14137	0.374000	0.29953	0.099000	0.15210	2.118000	0.64928	0.462000	0.41574	CAA		0.512	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		14	122	0	0	0	0	14	122				
CEP76	79959	broad.mit.edu	37	18	12697408	12697408	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr18:12697408C>T	ENST00000262127.2	-	5	746		c.e5-1		PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000586887.1_5'Flank|CEP76_ENST00000423709.2_Splice_Site	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTCCATCACCTAGCAATATA	0.299																																						uc002kri.2		NA																	0					0						c.e5-1		centrosomal protein 76kDa							99.0	85.0	90.0					18																	12697408		2203	4300	6503	SO:0001630	splice_region_variant	79959				G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding	g.chr18:12697408C>T	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.521-1G>A	18.37:g.12697408C>T						PSMG2_uc002krg.2_Intron|CEP76_uc002krh.3_Splice_Site|CEP76_uc010wzz.1_Splice_Site_p.S99_splice|CEP76_uc010xaa.1_Splice_Site	p.G174_splice	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN			5	677	-								B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Splice_Site	SNP	ENST00000262127.2	37	c.521_splice	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546462	0.65198	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8025	0.96515	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CEP76	12687408	1.000000	0.71417	0.999000	0.59377	0.749000	0.42624	7.595000	0.82710	2.762000	0.94881	0.467000	0.42956	.		0.299	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	Intron	18	52	0	0	0	0	18	52				
PRKACA	5566	broad.mit.edu	37	19	14211687	14211687	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:14211687C>T	ENST00000308677.4	-	5	566	c.370G>A	c.(370-372)Gtg>Atg	p.V124M	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Missense_Mutation_p.V116M|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	124	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						CCGCCGGGCACGTACTCCATG	0.602																																						uc002myc.2		NA																	0				lung(1)	1						c.(370-372)GTG>ATG		cAMP-dependent protein kinase catalytic subunit							117.0	96.0	103.0					19																	14211687		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14211687C>T		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.370G>A	19.37:g.14211687C>T	ENSP00000309591:p.Val124Met					PRKACA_uc002myb.2_Missense_Mutation_p.V116M|PRKACA_uc010xnm.1_Missense_Mutation_p.V66M|PRKACA_uc002myd.2_Missense_Mutation_p.V66M	p.V124M	NM_002730	NP_002721	P17612	KAPCA_HUMAN			5	570	-			124			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.370G>A	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223446	0.58668	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.07908	3.15	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.41938	D	0.000783	T	0.12561	0.0305	N	0.04148	-0.265	0.53005	D	0.999962	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.77004	0.982;0.989;0.985;0.969	T	0.44787	-0.9305	10	0.72032	D	0.01	.	15.9722	0.80027	0.0:1.0:0.0:0.0	.	66;107;124;116	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	M	124;116;124;66	ENSP00000309591:V124M	ENSP00000309591:V124M	V	-	1	0	PRKACA	14072687	1.000000	0.71417	0.918000	0.36340	0.007000	0.05969	4.830000	0.62745	2.383000	0.81215	0.558000	0.71614	GTG		0.602	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		11	52	0	0	0	0	11	52				
IL12RB1	3594	broad.mit.edu	37	19	18194250	18194250	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:18194250G>A	ENST00000600835.2	-	3	414	c.116C>T	c.(115-117)gCa>gTa	p.A39V	IL12RB1_ENST00000322153.7_Missense_Mutation_p.A39V|IL12RB1_ENST00000593993.2_Missense_Mutation_p.A39V			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1	39					cellular response to interferon-gamma (GO:0071346)|cytokine-mediated signaling pathway (GO:0019221)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-23-mediated signaling pathway (GO:0038155)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|interleukin-12 receptor complex (GO:0042022)|interleukin-23 receptor complex (GO:0072536)	cytokine receptor activity (GO:0004896)			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACCTGAGTCTGCATCCGGATA	0.567																																						uc002nhw.1		NA																	0				pancreas(1)	1						c.(115-117)GCA>GTA		interleukin 12 receptor, beta 1 isoform 1							170.0	136.0	147.0					19																	18194250		2203	4300	6503	SO:0001583	missense	3594				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity	g.chr19:18194250G>A	U03187	CCDS32957.1, CCDS54232.1	19p13.1	2014-09-17						"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	5971	protein-coding gene	gene with protein product		601604		IL12RB		9284929	Standard	XM_005259893		Approved	CD212	uc002nhw.1	P42701		ENST00000600835.2:c.116C>T	19.37:g.18194250G>A	ENSP00000470788:p.Ala39Val					IL12RB1_uc010xqb.1_Missense_Mutation_p.A39V|IL12RB1_uc002nhx.1_Missense_Mutation_p.A79V|IL12RB1_uc002nhy.2_Missense_Mutation_p.A39V	p.A39V	NM_005535	NP_005526	P42701	I12R1_HUMAN			2	180	-			39			Extracellular (Potential).		A8K308|B2RPF1|B7ZKK3|Q8N6Q7	Missense_Mutation	SNP	ENST00000600835.2	37	c.116C>T	CCDS54232.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077438	0.36662	.	.	ENSG00000096996	ENST00000430026;ENST00000322153	T;T	0.76578	-1.03;-1.03	2.65	-5.29	0.02747	.	1.175770	0.06599	U	0.753463	T	0.63236	0.2494	L	0.44542	1.39	0.09310	N	1	B;B;B	0.26809	0.16;0.007;0.099	B;B;B	0.24701	0.055;0.006;0.025	T	0.52147	-0.8614	10	0.48119	T	0.1	1.0909	2.5646	0.04780	0.1422:0.4868:0.2113:0.1597	.	39;39;39	P42701-2;P42701-3;P42701	.;.;I12R1_HUMAN	V	39	ENSP00000403103:A39V;ENSP00000314425:A39V	ENSP00000314425:A39V	A	-	2	0	IL12RB1	18055250	0.001000	0.12720	0.028000	0.17463	0.563000	0.35712	-0.310000	0.08135	-0.700000	0.05070	0.306000	0.20318	GCA		0.567	IL12RB1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466525.3			4	107	0	0	0	0	4	107				
ZNF737	100129842	broad.mit.edu	37	19	20728189	20728189	+	Missense_Mutation	SNP	T	T	G	rs57947174	byFrequency	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:20728189T>G	ENST00000427401.4	-	4	914	c.820A>C	c.(820-822)Aca>Cca	p.T274P		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATCTTATGTGTAGTAAGGTTA	0.398																																						uc002npa.2		NA																	0				ovary(1)	1						c.(820-822)ACA>CCA		zinc finger protein 737							40.0	39.0	39.0					19																	20728189		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728189T>G	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.820A>C	19.37:g.20728189T>G	ENSP00000395733:p.Thr274Pro						p.T274P	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1000	-			274					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.820A>C	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	6.176	0.400739	0.11696	.	.	ENSG00000237440	ENST00000427401	T	0.07688	3.17	0.801	-1.6	0.08426	.	.	.	.	.	T	0.11965	0.0291	L	0.55103	1.725	0.09310	N	1	P	0.52170	0.951	P	0.52217	0.693	T	0.10451	-1.0629	9	0.34782	T	0.22	.	5.1781	0.15146	0.0:0.4882:0.0:0.5118	.	274	C9JHM3	.	P	274	ENSP00000395733:T274P	ENSP00000395733:T274P	T	-	1	0	ZNF737	20520029	0.000000	0.05858	0.036000	0.18154	0.036000	0.12997	-2.977000	0.00664	-1.463000	0.01904	-1.493000	0.00968	ACA		0.398	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2	NM_145289		4	19	0	0	0	0	4	19				
RYR1	6261	broad.mit.edu	37	19	39010003	39010003	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:39010003G>T	ENST00000359596.3	+	67	10168	c.10168G>T	c.(10168-10170)Ggc>Tgc	p.G3390C	RYR1_ENST00000355481.4_Missense_Mutation_p.G3390C|RYR1_ENST00000360985.3_Missense_Mutation_p.G3390C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3390					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCCAGGAGGGCGAGCTGCT	0.662																																						uc002oit.2		NA																	0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(10168-10170)GGC>TGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						52.0	40.0	44.0					19																	39010003		2202	4300	6502	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39010003G>T	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10168G>T	19.37:g.39010003G>T	ENSP00000352608:p.Gly3390Cys					RYR1_uc002oiu.2_Missense_Mutation_p.G3390C|RYR1_uc002oiv.1_Missense_Mutation_p.G310C|RYR1_uc010xuf.1_Missense_Mutation_p.G310C	p.G3390C	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		67	10298	+	all_cancers(60;7.91e-06)		3390					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.10168G>T	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480351	0.26598	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.96885	-4.16;-4.15;-4.16	3.55	3.55	0.40652	.	0.286504	0.27294	U	0.020023	D	0.94324	0.8176	L	0.38175	1.15	0.35696	D	0.815245	D;D;D	0.61697	0.971;0.99;0.983	P;P;B	0.50378	0.639;0.639;0.436	D	0.95626	0.8685	10	0.66056	D	0.02	.	10.3976	0.44209	0.0:0.0:0.804:0.196	.	3390;3390;3390	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	C	3390;3390;3390;310	ENSP00000352608:G3390C;ENSP00000347667:G3390C;ENSP00000354254:G3390C	ENSP00000347667:G3390C	G	+	1	0	RYR1	43701843	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	6.150000	0.71801	1.836000	0.53414	0.430000	0.28490	GGC		0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			6	20	1	0	0.00116845	0.00124839	6	20				
HNRNPUL1	11100	broad.mit.edu	37	19	41782195	41782195	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:41782195G>A	ENST00000392006.3	+	5	951	c.778G>A	c.(778-780)Gag>Aag	p.E260K	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000594207.1_3'UTR|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E171K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E160K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E260K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E217K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	260	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGTATGCTTCGAGATGAAGGT	0.532																																						uc002oqb.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(778-780)GAG>AAG		heterogeneous nuclear ribonucleoprotein U-like 1							82.0	82.0	82.0					19																	41782195		2203	4300	6503	SO:0001583	missense	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41782195G>A	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.778G>A	19.37:g.41782195G>A	ENSP00000375863:p.Glu260Lys					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Missense_Mutation_p.E160K|HNRNPUL1_uc002oqa.3_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehm.2_Missense_Mutation_p.E260K|HNRNPUL1_uc002oqc.3_Missense_Mutation_p.E217K|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehn.2_Missense_Mutation_p.E160K|HNRNPUL1_uc010eho.2_Missense_Mutation_p.E160K|HNRNPUL1_uc010xvy.1_Missense_Mutation_p.E160K|HNRNPUL1_uc010ehp.2_Missense_Mutation_p.E116K|HNRNPUL1_uc010ehl.1_Missense_Mutation_p.E160K	p.E260K	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			5	1067	+			260			B30.2/SPRY.|Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	ENST00000392006.3	37	c.778G>A	CCDS12576.1	.	.	.	.	.	.	.	.	.	.	G	35	5.573089	0.96553	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.95978	0.8690	H	0.98333	4.205	0.54753	D	0.999989	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.99;0.99;1.0;0.994;0.997;0.972	D	0.97018	0.9741	10	0.87932	D	0	-24.2165	19.4154	0.94694	0.0:0.0:1.0:0.0	.	171;160;260;217;260;160	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	K	160;260;217;171	ENSP00000340857:E160K;ENSP00000375863:E260K;ENSP00000367460:E217K;ENSP00000263367:E171K	ENSP00000263367:E171K	E	+	1	0	HNRNPUL1	46474035	1.000000	0.71417	0.994000	0.49952	0.814000	0.46013	9.489000	0.97949	2.884000	0.98904	0.655000	0.94253	GAG		0.532	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1	NM_144732, NM_007040		12	88	0	0	0	0	12	88				
PPFIA3	8541	broad.mit.edu	37	19	49631304	49631304	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr19:49631304G>A	ENST00000334186.4	+	2	523	c.174G>A	c.(172-174)ctG>ctA	p.L58L	PPFIA3_ENST00000602351.1_Silent_p.L58L	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	58					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CAGCGCAGCTGCGGCTGCGCG	0.726																																						uc002pmr.2		NA																	0				lung(1)	1						c.(172-174)CTG>CTA		PTPRF interacting protein alpha 3							9.0	10.0	10.0					19																	49631304		1723	3720	5443	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49631304G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.174G>A	19.37:g.49631304G>A						PPFIA3_uc010yai.1_RNA|PPFIA3_uc010emt.2_5'Flank|PPFIA3_uc010yaj.1_5'Flank|PPFIA3_uc002pms.2_5'Flank	p.L58L	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	2	506	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	58			Potential.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.174G>A	CCDS12758.1																																																																																				0.726	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		10	13	0	0	0	0	10	13				
NCOA1	8648	broad.mit.edu	37	2	24929930	24929930	+	Silent	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:24929930C>A	ENST00000406961.1	+	13	2243	c.1591C>A	c.(1591-1593)Cga>Aga	p.R531R	NCOA1_ENST00000538539.1_Silent_p.R531R|NCOA1_ENST00000395856.3_Silent_p.R531R|NCOA1_ENST00000407230.1_Silent_p.R380R|NCOA1_ENST00000288599.5_Silent_p.R531R|NCOA1_ENST00000405141.1_Silent_p.R531R|NCOA1_ENST00000348332.3_Silent_p.R531R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	531	Interaction with STAT3.|Ser-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATAATAACCGATCTTATTC	0.443			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2		NA		Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(1591-1593)CGA>AGA		nuclear receptor coactivator 1 isoform 1							86.0	90.0	89.0					2																	24929930		2203	4299	6502	SO:0001819	synonymous_variant	8648							g.chr2:24929930C>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.1591C>A	2.37:g.24929930C>A						NCOA1_uc010eye.2_Silent_p.R531R|NCOA1_uc002rfi.2_Silent_p.R380R|NCOA1_uc002rfj.2_Silent_p.R531R|NCOA1_uc002rfl.2_Silent_p.R531R	p.R531R	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			11	1849	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		531			Interaction with STAT3.|Ser-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.1591C>A	CCDS1712.1																																																																																				0.443	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		16	83	1	0	2.23e-06	2.5e-06	16	83				
SPTBN1	6711	broad.mit.edu	37	2	54849492	54849492	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:54849492C>T	ENST00000356805.4	+	9	1213	c.932C>T	c.(931-933)gCc>gTc	p.A311V	SPTBN1_ENST00000333896.5_Missense_Mutation_p.A298V	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	311					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAATCACTTGCCTCTGACCTT	0.398																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(931-933)GCC>GTC		spectrin, beta, non-erythrocytic 1 isoform 1							151.0	148.0	149.0					2																	54849492		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54849492C>T		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.932C>T	2.37:g.54849492C>T	ENSP00000349259:p.Ala311Val					SPTBN1_uc002rxv.1_Missense_Mutation_p.A311V|SPTBN1_uc002rxx.2_Missense_Mutation_p.A298V	p.A311V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		9	1181	+			311			Spectrin 1.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.932C>T	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	36	5.617927	0.96649	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.58210	0.35;0.35;0.35	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67126	0.2860	L	0.60067	1.865	0.80722	D	1	P;P	0.52061	0.756;0.95	P;P	0.57283	0.517;0.817	T	0.67465	-0.5664	10	0.56958	D	0.05	.	19.5275	0.95212	0.0:1.0:0.0:0.0	.	298;311	Q01082-3;Q01082	.;SPTB2_HUMAN	V	311;311;298	ENSP00000349259:A311V;ENSP00000374630:A311V;ENSP00000334156:A298V	ENSP00000334156:A298V	A	+	2	0	SPTBN1	54702996	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.770000	0.85390	2.618000	0.88619	0.650000	0.86243	GCC		0.398	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			10	91	0	0	0	0	10	91				
RANBP2	5903	broad.mit.edu	37	2	109383270	109383270	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr2:109383270C>T	ENST00000283195.6	+	20	6401	c.6275C>T	c.(6274-6276)aCg>aTg	p.T2092M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2092	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATAACGACTACGATGAACCTG	0.413																																						uc002tem.3		NA																RANBP2/ALK(16)	0				soft_tissue(16)|lung(1)|pancreas(1)	18						c.(6274-6276)ACG>ATG		RAN binding protein 2							231.0	242.0	238.0					2																	109383270		2203	4299	6502	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109383270C>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.6275C>T	2.37:g.109383270C>T	ENSP00000283195:p.Thr2092Met						p.T2092M	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	6401	+			2092			RanBD1 2.		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.6275C>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605463	0.46423	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.44482	0.92	5.65	5.65	0.86999	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.56366	0.1980	L	0.41632	1.29	0.34925	D	0.748823	D	0.89917	1.0	D	0.72075	0.976	T	0.66081	-0.6012	9	0.72032	D	0.01	-17.6174	16.0185	0.80460	0.1349:0.8651:0.0:0.0	.	2092	P49792	RBP2_HUMAN	M	1116;2092	ENSP00000283195:T2092M	ENSP00000283195:T2092M	T	+	2	0	RANBP2	108749702	1.000000	0.71417	0.850000	0.33497	0.628000	0.37860	6.081000	0.71309	2.653000	0.90120	0.557000	0.71058	ACG		0.413	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		62	360	0	0	0	0	62	360				
OVOL2	58495	broad.mit.edu	37	20	18022341	18022341	+	Silent	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr20:18022341C>A	ENST00000278780.6	-	3	590	c.348G>T	c.(346-348)tcG>tcT	p.S116S	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	116					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTGAACCACCGAGTCGCTGC	0.612																																						uc002wqi.1		NA																	0				central_nervous_system(1)	1						c.(346-348)TCG>TCT		zinc finger protein 339							85.0	60.0	69.0					20																	18022341		2203	4300	6503	SO:0001819	synonymous_variant	58495				negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:18022341C>A	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.348G>T	20.37:g.18022341C>A							p.S116S	NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN			3	591	-			116					Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Silent	SNP	ENST00000278780.6	37	c.348G>T	CCDS13132.1																																																																																				0.612	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220		10	28	1	0	0.000673444	0.000727176	10	28				
LSS	4047	broad.mit.edu	37	21	47635094	47635094	+	Splice_Site	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47635094C>T	ENST00000397728.3	-	9	1089	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	LSS_ENST00000356396.4_Splice_Site_p.P337P|LSS_ENST00000457828.2_Splice_Site_p.P257P|LSS_ENST00000522411.1_Splice_Site_p.P326P|LSS_ENST00000464357.1_5'Flank	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	337					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					GGGCACTGACCGGGCCGATGC	0.642																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	0					0						c.(1009-1011)CCG>CCA		lanosterol synthase isoform 1							58.0	59.0	59.0					21																	47635094		2203	4300	6503	SO:0001630	splice_region_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47635094C>T	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1011+1G>A	21.37:g.47635094C>T						LSS_uc011afv.1_Silent_p.P326P|LSS_uc002zil.2_Silent_p.P337P|LSS_uc002zik.2_Silent_p.P257P	p.P337P	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			9	1090	-	Breast(49;0.214)		337					B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Silent	SNP	ENST00000397728.3	37	c.1011G>A	CCDS13733.1																																																																																				0.642	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2		Silent	7	67	0	0	0	0	7	67				
PCNT	5116	broad.mit.edu	37	21	47863774	47863774	+	Missense_Mutation	SNP	C	C	G	rs138097697		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr21:47863774C>G	ENST00000359568.5	+	45	9859	c.9752C>G	c.(9751-9753)cCa>cGa	p.P3251R	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3251					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)					GAGTCCCCCCCAACCCGGGAT	0.592																																						uc002zji.3		NA																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(9751-9753)CCA>CGA		pericentrin							46.0	55.0	52.0					21																	47863774		2203	4300	6503	SO:0001583	missense	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47863774C>G	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.9752C>G	21.37:g.47863774C>G	ENSP00000352572:p.Pro3251Arg					PCNT_uc002zjj.2_Missense_Mutation_p.P3054R	p.P3251R	NM_006031	NP_006022	O95613	PCNT_HUMAN			45	9859	+	Breast(49;0.112)		3251					O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	c.9752C>G	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178793	0.38511	.	.	ENSG00000160299	ENST00000359568	T	0.01629	4.72	5.0	3.18	0.36537	.	.	.	.	.	T	0.07728	0.0194	M	0.65975	2.015	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.982	T	0.13602	-1.0503	9	0.87932	D	0	.	8.4178	0.32681	0.0:0.8138:0.0:0.1862	.	3054;3251	O95613-2;O95613	.;PCNT_HUMAN	R	3251	ENSP00000352572:P3251R	ENSP00000352572:P3251R	P	+	2	0	PCNT	46688202	0.665000	0.27466	0.036000	0.18154	0.004000	0.04260	3.316000	0.51960	0.778000	0.33520	-0.136000	0.14681	CCA		0.592	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		40	73	0	0	0	0	40	73				
RFPL3	10738	broad.mit.edu	37	22	32756682	32756682	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr22:32756682G>A	ENST00000249007.4	+	2	1022	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000461833.1_5'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.V244I|RFPL3_ENST00000382088.3_Missense_Mutation_p.V244I	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						ATTCAGGAGCGTCTCTGCTGA	0.483																																						uc003amj.2		NA																	0				ovary(1)	1						c.(817-819)GTC>ATC		ret finger protein-like 3 isoform 1							112.0	97.0	102.0					22																	32756682		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756682G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.817G>A	22.37:g.32756682G>A	ENSP00000249007:p.Val273Ile					RFPL3_uc010gwn.2_Missense_Mutation_p.V244I|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.V273I	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	1022	+			273			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.817G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.173081	0.00312	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.71341	-0.56;-0.56;-0.56	1.36	-2.73	0.05950	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.33147	0.0853	N	0.01640	-0.785	0.09310	N	1	B	0.23442	0.085	B	0.31495	0.131	T	0.31420	-0.9944	9	0.02654	T	1	.	2.8769	0.05634	0.4379:0.0:0.3566:0.2055	.	273	O75679	RFPL3_HUMAN	I	244;273;244	ENSP00000380609:V244I;ENSP00000249007:V273I;ENSP00000371520:V244I	ENSP00000249007:V273I	V	+	1	0	RFPL3	31086682	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.284000	0.08422	-1.133000	0.02903	-0.974000	0.02594	GTC		0.483	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		14	47	0	0	0	0	14	47				
ZNF80	7634	broad.mit.edu	37	3	113955725	113955725	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:113955725C>T	ENST00000482457.2	-	1	700	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	66					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				CTGCTGATGTCGAACAAGGAG	0.488																																					GBM(23;986 1114 21716)	uc010hqo.2		NA																	0					0						c.(196-198)CGA>CAA		zinc finger protein 80							104.0	89.0	94.0					3																	113955725		2203	4300	6503	SO:0001583	missense	7634					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:113955725C>T	X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.197G>A	3.37:g.113955725C>T	ENSP00000417192:p.Arg66Gln					ZNF80_uc003ebf.2_RNA	p.R66Q	NM_007136	NP_009067	P51504	ZNF80_HUMAN			1	701	-		Lung NSC(201;0.0233)|all_neural(597;0.0837)	66			C2H2-type 1.		Q6NSW4|Q6NT14	Missense_Mutation	SNP	ENST00000482457.2	37	c.197G>A	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	0.148	-1.094404	0.01858	.	.	ENSG00000174255	ENST00000482457	T	0.26223	1.75	3.01	-3.29	0.05017	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10551	0.0258	L	0.39147	1.195	0.09310	N	1	B	0.32051	0.354	B	0.21151	0.033	T	0.36915	-0.9728	9	0.02654	T	1	.	0.9755	0.01425	0.146:0.2024:0.2891:0.3624	.	66	P51504	ZNF80_HUMAN	Q	66	ENSP00000417192:R66Q	ENSP00000309812:R66Q	R	-	2	0	ZNF80	115438415	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.289000	0.00259	-0.857000	0.04115	-0.150000	0.13652	CGA		0.488	ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136		4	30	0	0	0	0	4	30				
PLXND1	23129	broad.mit.edu	37	3	129278515	129278515	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:129278515C>T	ENST00000324093.4	-	32	5423	c.5245G>A	c.(5245-5247)Gag>Aag	p.E1749K	PLXND1_ENST00000393239.1_Missense_Mutation_p.E1749K|PLXND1_ENST00000504689.1_5'Flank	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1749					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCCTCTTCTCAGCCTGCTCC	0.582																																					Ovarian(97;366 1484 3738 22084 39045)	uc003emx.2		NA																	0				large_intestine(1)	1						c.(5245-5247)GAG>AAG		plexin D1 precursor							118.0	123.0	122.0					3																	129278515		2203	4300	6503	SO:0001583	missense	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129278515C>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5245G>A	3.37:g.129278515C>T	ENSP00000317128:p.Glu1749Lys					PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.E417K	p.E1749K	NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN			32	5345	-			1749			Cytoplasmic (Potential).		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	c.5245G>A	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841605	0.71488	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.12255	2.7;2.7	4.95	4.95	0.65309	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.181621	0.47455	D	0.000239	T	0.25606	0.0623	L	0.38175	1.15	0.54753	D	0.999985	P;D	0.56968	0.503;0.978	B;P	0.57911	0.085;0.829	T	0.01532	-1.1331	10	0.87932	D	0	.	18.2048	0.89851	0.0:1.0:0.0:0.0	.	344;1749	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	K	1749	ENSP00000317128:E1749K;ENSP00000376931:E1749K	ENSP00000317128:E1749K	E	-	1	0	PLXND1	130761205	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	6.036000	0.70948	2.292000	0.77174	0.563000	0.77884	GAG		0.582	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		41	133	0	0	0	0	41	133				
LAMP3	27074	broad.mit.edu	37	3	182841888	182841888	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:182841888G>C	ENST00000265598.3	-	6	1487	c.1232C>G	c.(1231-1233)tCt>tGt	p.S411C	LAMP3_ENST00000466939.1_Missense_Mutation_p.S387C	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	411					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			CTGGTATCCAGATGATTGACA	0.453																																						uc003flh.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1231-1233)TCT>TGT		lysosomal-associated membrane protein 3							127.0	122.0	123.0					3																	182841888		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182841888G>C	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.1232C>G	3.37:g.182841888G>C	ENSP00000265598:p.Ser411Cys						p.S411C	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		6	1456	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		411			Cytoplasmic (Potential).		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.1232C>G	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756065	0.69648	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.37058	1.22;1.22	5.92	5.04	0.67666	.	0.115721	0.39544	N	0.001326	T	0.51618	0.1685	M	0.70595	2.14	0.09310	N	1	D	0.61697	0.99	P	0.57371	0.819	T	0.49725	-0.8909	10	0.72032	D	0.01	-5.5794	11.5193	0.50541	0.0846:0.0:0.9154:0.0	.	411	Q9UQV4	LAMP3_HUMAN	C	411;387	ENSP00000265598:S411C;ENSP00000418912:S387C	ENSP00000265598:S411C	S	-	2	0	LAMP3	184324582	0.005000	0.15991	0.349000	0.25694	0.973000	0.67179	0.592000	0.23984	2.813000	0.96785	0.561000	0.74099	TCT		0.453	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			34	62	0	0	0	0	34	62				
CPN2	1370	broad.mit.edu	37	3	194063384	194063384	+	Silent	SNP	G	G	A	rs568207489		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr3:194063384G>A	ENST00000323830.3	-	2	137	c.48C>T	c.(46-48)gcC>gcT	p.A16A	CPN2_ENST00000429275.1_Silent_p.A16A	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	16					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GGGCAGGCCTGGCCAGGAGCA	0.592																																						uc003fts.2		NA																	0				ovary(5)	5						c.(46-48)GCC>GCT		carboxypeptidase N, polypeptide 2							41.0	47.0	45.0					3																	194063384		2203	4300	6503	SO:0001819	synonymous_variant	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194063384G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.48C>T	3.37:g.194063384G>A							p.A16A	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	138	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		16					B2RPE7|Q86SU4|Q8N5V4	Silent	SNP	ENST00000323830.3	37	c.48C>T	CCDS33920.1																																																																																				0.592	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513		6	68	0	0	0	0	6	68				
SLC26A1	10861	broad.mit.edu	37	4	982693	982693	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:982693G>A	ENST00000361661.2	-	4	2411	c.2034C>T	c.(2032-2034)ctC>ctT	p.L678L	IDUA_ENST00000247933.4_Intron|IDUA_ENST00000509744.1_Intron|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000513138.1_5'Flank|SLC26A1_ENST00000398516.2_Silent_p.L678L|IDUA_ENST00000453894.1_Intron	NM_213613.2	NP_998778.1	Q9H2B4	S26A1_HUMAN	solute carrier family 26 (anion exchanger), member 1	678	STAS. {ECO:0000255|PROSITE- ProRule:PRU00198}.				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|chloride transport (GO:0006821)|glycosaminoglycan metabolic process (GO:0030203)|ion transport (GO:0006811)|oxalate transport (GO:0019532)|small molecule metabolic process (GO:0044281)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	anion:anion antiporter activity (GO:0015301)|chloride transmembrane transporter activity (GO:0015108)|oxalate transmembrane transporter activity (GO:0019531)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGTGCACACTGAGGAACAGCT	0.672																																						uc003gcb.2		NA																	0				skin(1)	1						c.(2032-2034)CTC>CTT		solute carrier family 26, member 1 isoform a							26.0	23.0	24.0					4																	982693		2188	4289	6477	SO:0001819	synonymous_variant	10861					integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity	g.chr4:982693G>A	AF297659	CCDS33933.1, CCDS33934.1	4p16.3	2013-07-18	2013-07-18		ENSG00000145217	ENSG00000145217		"""Solute carriers"""	10993	protein-coding gene	gene with protein product		610130	"""solute carrier family 26 (sulfate transporter), member 1"""				Standard	NM_213613		Approved	SAT-1, EDM4	uc003gcc.3	Q9H2B4	OTTHUMG00000160003	ENST00000361661.2:c.2034C>T	4.37:g.982693G>A						SLC26A1_uc003gbx.2_Intron|IDUA_uc003gby.2_Intron|IDUA_uc003gbz.2_Intron|IDUA_uc003gca.2_Intron|SLC26A1_uc003gcc.2_Silent_p.L678L	p.L678L	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		4	2412	-			678			STAS.		A8K9N2|Q7Z5R3|Q96BK0	Silent	SNP	ENST00000361661.2	37	c.2034C>T	CCDS33934.1																																																																																				0.672	SLC26A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358783.1	NM_022042, NM_134425		4	15	0	0	0	0	4	15				
RGS12	6002	broad.mit.edu	37	4	3432594	3432594	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:3432594G>A	ENST00000344733.5	+	17	4930	c.4026G>A	c.(4024-4026)ctG>ctA	p.L1342L	RGS12_ENST00000538395.1_3'UTR|RGS12_ENST00000336727.3_Silent_p.L1342L|RGS12_ENST00000382788.3_Silent_p.L1342L|RGS12_ENST00000338806.4_Silent_p.L694L	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1342					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCTGACCCTGATGGGGGAGG	0.672																																						uc003ggw.2		NA																	0				skin(1)	1						c.(4024-4026)CTG>CTA		regulator of G-protein signalling 12 isoform 1							28.0	33.0	31.0					4																	3432594		2201	4297	6498	SO:0001819	synonymous_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3432594G>A	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.4026G>A	4.37:g.3432594G>A						RGS12_uc003ggv.2_Silent_p.L1342L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Silent_p.L694L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Silent_p.L684L|RGS12_uc010icv.2_Silent_p.L541L	p.L1342L	NM_198229	NP_937872	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	17	4930	+			1342					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Silent	SNP	ENST00000344733.5	37	c.4026G>A	CCDS3366.1																																																																																				0.672	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	56	0	0	0	0	7	56				
LIN54	132660	broad.mit.edu	37	4	83891502	83891502	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:83891502G>A	ENST00000340417.3	-	4	1306	c.929C>T	c.(928-930)tCa>tTa	p.S310L	LIN54_ENST00000395283.2_Intron|LIN54_ENST00000446851.2_Missense_Mutation_p.S89L|LIN54_ENST00000510557.1_Missense_Mutation_p.S89L|LIN54_ENST00000442461.2_Missense_Mutation_p.S89L|LIN54_ENST00000505397.1_Missense_Mutation_p.S310L|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	310					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTTCAAAGGTGAGATGGCTAT	0.333																																						uc003hnx.3		NA																	0					0						c.(928-930)TCA>TTA		lin-54 homolog isoform a							191.0	191.0	191.0					4																	83891502		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83891502G>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.929C>T	4.37:g.83891502G>A	ENSP00000341947:p.Ser310Leu					LIN54_uc003hnz.3_Missense_Mutation_p.S89L|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Intron|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.S89L	p.S310L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			4	1307	-		Hepatocellular(203;0.114)	310					Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.929C>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.895896	0.72639	.	.	ENSG00000189308	ENST00000340417;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000505397	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	T	0.68229	0.2978	L	0.29908	0.895	0.80722	D	1	P;D	0.71674	0.608;0.998	B;D	0.73708	0.188;0.981	T	0.69522	-0.5123	9	0.62326	D	0.03	-20.7151	20.0896	0.97814	0.0:0.0:1.0:0.0	.	182;310	Q7Z3G2;Q6MZP7	.;LIN54_HUMAN	L	310;89;89;89;310	.	ENSP00000341947:S310L	S	-	2	0	LIN54	84110526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.741000	0.93983	0.650000	0.86243	TCA		0.333	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		16	97	0	0	0	0	16	97				
NFKB1	4790	broad.mit.edu	37	4	103527776	103527776	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:103527776G>A	ENST00000505458.1	+	17	2150	c.1873G>A	c.(1873-1875)Gaa>Aaa	p.E625K	NFKB1_ENST00000226574.4_Missense_Mutation_p.E626K|NFKB1_ENST00000394820.4_Missense_Mutation_p.E625K|NFKB1_ENST00000600343.1_Missense_Mutation_p.E445K			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	625	Interaction with CFLAR.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGCTGCCAAAGAAGGACATGA	0.502																																						uc011ceq.1		NA																	0				ovary(2)|breast(2)|skin(1)	5						c.(1873-1875)GAA>AAA		nuclear factor kappa-B, subunit 1 isoform 1	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)						138.0	125.0	130.0					4																	103527776		2203	4300	6503	SO:0001583	missense	4790				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr4:103527776G>A	M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1873G>A	4.37:g.103527776G>A	ENSP00000424790:p.Glu625Lys					NFKB1_uc011cep.1_Missense_Mutation_p.E626K|NFKB1_uc011cer.1_Missense_Mutation_p.E445K	p.E625K	NM_003998	NP_003989	P19838	NFKB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	17	2340	+		Hepatocellular(203;0.217)	625			Interaction with CFLAR.|ANK 3.		A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	c.1873G>A	CCDS54783.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368906	0.61624	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458	T;T;T	0.63580	-0.05;-0.05;-0.05	4.64	4.64	0.57946	Ankyrin repeat-containing domain (4);	0.069272	0.64402	D	0.000018	T	0.73598	0.3607	M	0.62723	1.935	0.44117	D	0.996898	D;D;D	0.69078	0.997;0.997;0.981	D;D;P	0.63957	0.92;0.913;0.595	T	0.74253	-0.3725	10	0.44086	T	0.13	.	14.3967	0.67015	0.0:0.1484:0.8516:0.0	.	445;625;626	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	K	626;625;625	ENSP00000226574:E626K;ENSP00000378297:E625K;ENSP00000424790:E625K	ENSP00000226574:E626K	E	+	1	0	NFKB1	103746814	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	4.606000	0.61126	2.281000	0.76405	0.650000	0.86243	GAA		0.502	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			11	72	0	0	0	0	11	72				
FAM149A	25854	broad.mit.edu	37	4	187088346	187088346	+	Silent	SNP	G	G	T	rs150961217	byFrequency	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr4:187088346G>T	ENST00000356371.5	+	13	2178	c.2178G>T	c.(2176-2178)acG>acT	p.T726T	FAM149A_ENST00000389354.5_Silent_p.T435T|FAM149A_ENST00000514153.1_Silent_p.T435T|FAM149A_ENST00000227065.4_Silent_p.T435T|FAM149A_ENST00000503432.1_Silent_p.T435T|FAM149A_ENST00000502970.1_Silent_p.T435T			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	726										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		AGTCGGATACGCCTCGAAAAA	0.368																																						uc003iyt.3		NA																	0				breast(1)	1						c.(1303-1305)ACG>ACT		hypothetical protein LOC25854							121.0	121.0	121.0					4																	187088346		2203	4300	6503	SO:0001819	synonymous_variant	25854							g.chr4:187088346G>T	AK057166	CCDS34117.1	4q35.1	2012-04-19			ENSG00000109794	ENSG00000109794			24527	protein-coding gene	gene with protein product							Standard	NM_015398		Approved	DKFZP564J102, MST119, MSTP119	uc010isl.3	A5PLN7	OTTHUMG00000160565	ENST00000356371.5:c.2178G>T	4.37:g.187088346G>T						FAM149A_uc011cla.1_Silent_p.T435T|FAM149A_uc003iyu.3_Silent_p.T435T|FAM149A_uc010isl.2_Silent_p.T435T|FAM149A_uc011clb.1_Silent_p.T434T	p.T435T	NM_015398	NP_056213	A5PLN7	F149A_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)	13	1884	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	726					B5MDB8|Q2TAN6|Q7Z2S5|Q9Y4T9	Silent	SNP	ENST00000356371.5	37	c.1305G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.133|3.133	-0.177905|-0.177905	0.06380|0.06380	.|.	.|.	ENSG00000109794|ENSG00000109794	ENST00000512271|ENST00000510843	.|.	.|.	.|.	5.62|5.62	-11.2|-11.2	0.00127|0.00127	.|.	.|.	.|.	.|.	.|.	T|T	0.18551|0.18551	0.0445|0.0445	.|.	.|.	.|.	0.30848|0.30848	N|N	0.73487|0.73487	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.06285|0.06285	-1.0835|-1.0835	4|4	.|.	.|.	.|.	-8.4095|-8.4095	1.8811|1.8811	0.03228|0.03228	0.2635:0.1513:0.3671:0.2181|0.2635:0.1513:0.3671:0.2181	.|.	.|.	.|.	.|.	S|L	112|113	.|.	.|.	A|R	+|+	1|2	0|0	FAM149A|FAM149A	187325340|187325340	0.000000|0.000000	0.05858|0.05858	0.029000|0.029000	0.17559|0.17559	0.017000|0.017000	0.09413|0.09413	-2.199000|-2.199000	0.01238|0.01238	-1.920000|-1.920000	0.01069|0.01069	-1.292000|-1.292000	0.01352|0.01352	GCC|CGC		0.368	FAM149A-201	KNOWN	basic	protein_coding	protein_coding		NM_001006655		21	110	1	0	7.42e-09	8.76e-09	21	110				
SETD9	133383	broad.mit.edu	37	5	56212663	56212663	+	Silent	SNP	T	T	G	rs374889494		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:56212663T>G	ENST00000285947.2	+	6	1220	c.834T>G	c.(832-834)ctT>ctG	p.L278L	SETD9_ENST00000475908.1_3'UTR|SETD9_ENST00000541720.1_Intron	NM_153706.3	NP_714917.2	Q8NE22	SETD9_HUMAN	SET domain containing 9	278	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						methyltransferase activity (GO:0008168)										GTGTTGTTCTTGTCGCACTTA	0.333																																						uc003jqx.2		NA																	0				ovary(1)	1						c.(832-834)CTT>CTG		hypothetical protein LOC133383							158.0	149.0	152.0					5																	56212663		2203	4300	6503	SO:0001819	synonymous_variant	133383							g.chr5:56212663T>G	BC036528	CCDS3972.1	5q11.2	2012-02-23	2012-02-23	2012-02-23	ENSG00000155542	ENSG00000155542			28508	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 35"""	C5orf35		20930037	Standard	NM_153706		Approved	MGC33648	uc003jqx.3	Q8NE22	OTTHUMG00000059485	ENST00000285947.2:c.834T>G	5.37:g.56212663T>G						C5orf35_uc003jqy.2_RNA	p.L278L	NM_153706	NP_714917	Q8NE22	CE035_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;2.58e-39)	6	1207	+		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.173)	278					F5H713	Silent	SNP	ENST00000285947.2	37	c.834T>G	CCDS3972.1																																																																																				0.333	SETD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132304.2	NM_153706		13	25	0	0	0	0	13	25				
DEPDC1B	55789	broad.mit.edu	37	5	59982801	59982801	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:59982801C>G	ENST00000265036.5	-	2	369	c.302G>C	c.(301-303)cGt>cCt	p.R101P	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R74P|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R101P	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	101	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				GTATAAGTGACGATTGTCTTC	0.428																																						uc003jsh.2		NA																	0				ovary(1)	1						c.(301-303)CGT>CCT		DEP domain containing 1B isoform 1							259.0	256.0	257.0					5																	59982801		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982801C>G	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.302G>C	5.37:g.59982801C>G	ENSP00000265036:p.Arg101Pro					DEPDC1B_uc011cqm.1_Missense_Mutation_p.R101P|DEPDC1B_uc011cqn.1_Missense_Mutation_p.R74P	p.R101P	NM_018369	NP_060839	Q8WUY9	DEP1B_HUMAN			2	375	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	101			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.302G>C	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	15.84	2.953053	0.53293	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.13538	2.58;2.58;2.58	5.54	5.54	0.83059	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.157358	0.56097	D	0.000035	T	0.17195	0.0413	N	0.25647	0.755	0.34027	D	0.653356	B;B	0.28760	0.132;0.221	B;B	0.40782	0.34;0.21	T	0.17776	-1.0358	9	.	.	.	-5.3742	19.8465	0.96710	0.0:1.0:0.0:0.0	.	101;101	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	P	101;101;74	ENSP00000265036:R101P;ENSP00000389101:R101P;ENSP00000438320:R74P	.	R	-	2	0	DEPDC1B	60018558	0.572000	0.26668	0.990000	0.47175	0.974000	0.67602	3.886000	0.56190	2.769000	0.95229	0.561000	0.74099	CGT		0.428	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		27	224	0	0	0	0	27	224				
RAD17	5884	broad.mit.edu	37	5	68680680	68680680	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:68680680C>T	ENST00000509734.1	+	7	1276	c.598C>T	c.(598-600)Cta>Tta	p.L200L	RAD17_ENST00000380774.3_Silent_p.L200L|RAD17_ENST00000361732.2_Silent_p.L189L|RAD17_ENST00000521422.1_Silent_p.L24L|RAD17_ENST00000354868.5_Silent_p.L189L|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Silent_p.L189L|RAD17_ENST00000282891.6_Silent_p.L103L|RAD17_ENST00000358030.2_Silent_p.L24L|RAD17_ENST00000305138.4_Silent_p.L189L|RAD17_ENST00000345306.6_Silent_p.L189L			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	200					cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CAAAGAGTTTCTACTAAGAGC	0.323								Other conserved DNA damage response genes																														uc003jwo.2		NA																	0					0						c.(598-600)CTA>TTA	Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes	RAD17 homolog isoform 2							70.0	70.0	70.0					5																	68680680		2203	4299	6502	SO:0001819	synonymous_variant	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68680680C>T	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.598C>T	5.37:g.68680680C>T						RAD17_uc003jwg.2_Silent_p.L189L|RAD17_uc003jwh.2_Silent_p.L189L|RAD17_uc003jwi.2_Silent_p.L189L|RAD17_uc003jwj.2_Silent_p.L189L|RAD17_uc003jwk.2_Silent_p.L189L|RAD17_uc003jwl.2_Silent_p.L189L|RAD17_uc003jwm.2_Silent_p.L24L|RAD17_uc003jwn.2_Silent_p.L103L	p.L200L	NM_133339	NP_579917	O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	5	660	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	200					A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Silent	SNP	ENST00000509734.1	37	c.598C>T	CCDS4003.1																																																																																				0.323	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		10	43	0	0	0	0	10	43				
PBX2	5089	broad.mit.edu	37	6	32154198	32154198	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32154198C>T	ENST00000375050.4	-	9	1524	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	AGER_ENST00000375070.3_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000438221.2_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000375067.3_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	418					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTGGTCCCTCCGTTGGGGATG	0.572																																						uc003oav.1		NA																	0				ovary(1)	1						c.(1252-1254)ACG>ACA		pre-B-cell leukemia homeobox 2							50.0	46.0	48.0					6																	32154198		1511	2707	4218	SO:0001819	synonymous_variant	5089						transcription factor binding	g.chr6:32154198C>T		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1254G>A	6.37:g.32154198C>T						AGER_uc003oar.2_5'Flank|AGER_uc011dpm.1_5'Flank|AGER_uc011dpn.1_5'Flank|AGER_uc003oal.1_5'Flank|AGER_uc010jtv.1_5'Flank|AGER_uc011dpo.1_5'Flank|AGER_uc003oam.1_5'Flank|AGER_uc003oan.1_5'Flank|AGER_uc003oap.1_5'Flank|AGER_uc003oat.1_5'Flank|AGER_uc003oao.1_5'Flank|AGER_uc003oaq.1_5'Flank|AGER_uc010jtw.1_5'Flank|AGER_uc003oas.1_5'Flank|AGER_uc003oau.1_5'Flank|AGER_uc011dpp.1_5'Flank|AGER_uc011dpq.1_5'Flank|AGER_uc011dpr.1_5'Flank|AGER_uc011dps.1_5'Flank	p.T418T	NM_002586	NP_002577	P40425	PBX2_HUMAN			9	1525	-			418					A2BFJ2	Silent	SNP	ENST00000375050.4	37	c.1254G>A	CCDS4748.1																																																																																				0.572	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			3	32	0	0	0	0	3	32				
BTNL2	56244	broad.mit.edu	37	6	32363864	32363864	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:32363864C>G	ENST00000374993.1	-	5	1029	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	BTNL2_ENST00000540315.1_Missense_Mutation_p.E134Q|BTNL2_ENST00000429232.2_Missense_Mutation_p.E251Q|BTNL2_ENST00000454136.3_Missense_Mutation_p.E344Q|HCG23_ENST00000426643.1_RNA|BTNL2_ENST00000374995.3_Missense_Mutation_p.E250Q|BTNL2_ENST00000544175.1_Missense_Mutation_p.E67Q|BTNL2_ENST00000414363.1_Missense_Mutation_p.E134Q	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	344	Ig-like V-type 3.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCATCTTTTTCAAAAAGGCAG	0.483																																						uc003obg.1		NA																	0				central_nervous_system(1)	1						c.(1030-1032)GAA>CAA		butyrophilin-like 2							91.0	92.0	92.0					6																	32363864		1510	2707	4217	SO:0001583	missense	56244					integral to membrane		g.chr6:32363864C>G	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.1030G>C	6.37:g.32363864C>G	ENSP00000364132:p.Glu344Gln					BTNL2_uc010jty.1_Missense_Mutation_p.E67Q|BTNL2_uc010jtz.1_RNA|BTNL2_uc010jua.1_Missense_Mutation_p.E134Q	p.E344Q	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN			5	1030	-			344			Extracellular (Potential).|Ig-like V-type 3.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.1030G>C		.	.	.	.	.	.	.	.	.	.	c	9.745	1.166030	0.21538	.	.	ENSG00000204290	ENST00000468270;ENST00000374995;ENST00000414363;ENST00000374993;ENST00000540315;ENST00000544175;ENST00000429232	T;T;T;T;T;T	0.02682	4.2;4.2;4.2;4.2;4.2;4.2	5.2	4.3	0.51218	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133150	0.34906	N	0.003595	T	0.02767	0.0083	N	0.21097	0.63	0.24846	N	0.992432	D;B	0.69078	0.997;0.349	D;B	0.63283	0.913;0.303	T	0.52351	-0.8587	10	0.33940	T	0.23	.	13.9214	0.63933	0.0:0.8476:0.1524:0.0	.	134;344	Q9UIR0-4;Q9UIR0	.;BTNL2_HUMAN	Q	344;250;134;344;134;67;251	ENSP00000364134:E250Q;ENSP00000390512:E134Q;ENSP00000364132:E344Q;ENSP00000444714:E134Q;ENSP00000443364:E67Q;ENSP00000411166:E251Q	ENSP00000364132:E344Q	E	-	1	0	BTNL2	32471842	0.330000	0.24705	1.000000	0.80357	0.460000	0.32559	0.679000	0.25291	2.739000	0.93911	0.627000	0.83407	GAA		0.483	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		7	79	0	0	0	0	7	79				
ZBTB22	9278	broad.mit.edu	37	6	33283477	33283477	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:33283477G>A	ENST00000431845.2	-	2	1368	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.S406F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	406					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GGGGGCATAGGAAGAGGGAGT	0.592																																						uc003oeb.2		NA																	0				ovary(1)	1						c.(1216-1218)TCC>TTC		zinc finger and BTB domain containing 22							131.0	143.0	139.0					6																	33283477		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283477G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1217C>T	6.37:g.33283477G>A	ENSP00000407545:p.Ser406Phe					TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Missense_Mutation_p.S406F	p.S406F	NM_005453	NP_005444	O15209	ZBT22_HUMAN			2	1369	-			406					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1217C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.280575	0.40294	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.06528	3.29;3.29	3.72	3.72	0.42706	.	.	.	.	.	T	0.02418	0.0074	L	0.29908	0.895	0.39711	D	0.971333	B	0.32693	0.38	B	0.31751	0.135	T	0.42682	-0.9437	9	0.62326	D	0.03	.	10.8753	0.46906	0.0:0.0:1.0:0.0	.	406	O15209	ZBT22_HUMAN	F	406	ENSP00000404403:S406F;ENSP00000407545:S406F	ENSP00000404403:S406F	S	-	2	0	ZBTB22	33391455	0.926000	0.31397	0.968000	0.41197	0.738000	0.42128	4.115000	0.57865	1.922000	0.55676	0.297000	0.19635	TCC		0.592	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			33	212	0	0	0	0	33	212				
SCUBE3	222663	broad.mit.edu	37	6	35213722	35213722	+	Splice_Site	SNP	A	A	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:35213722A>G	ENST00000274938.7	+	20	2601	c.2601A>G	c.(2599-2601)tcA>tcG	p.S867S	SCUBE3_ENST00000394681.1_Splice_Site_p.S883S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCTTCCCAGCATCCCCATCCT	0.572																																						uc003okf.1		NA																	0				skin(1)	1						c.(2599-2601)TCA>TCG		signal peptide, CUB domain, EGF-like 3							214.0	204.0	207.0					6																	35213722		2203	4300	6503	SO:0001630	splice_region_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35213722A>G	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2600-1A>G	6.37:g.35213722A>G						SCUBE3_uc003okg.1_Silent_p.S866S|SCUBE3_uc003okh.1_Silent_p.S754S	p.S867S	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			20	2607	+			867			CUB.			Silent	SNP	ENST00000274938.7	37	c.2601A>G	CCDS4800.1																																																																																				0.572	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	Silent	87	208	0	0	0	0	87	208				
KIF6	221458	broad.mit.edu	37	6	39387750	39387750	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:39387750C>G	ENST00000287152.7	-	15	1878	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T	KIF6_ENST00000373215.3_Missense_Mutation_p.S595T|KIF6_ENST00000541946.1_Missense_Mutation_p.S46T|KIF6_ENST00000229913.5_Missense_Mutation_p.S46T|KIF6_ENST00000394362.1_Missense_Mutation_p.S46T|KIF6_ENST00000538893.1_Missense_Mutation_p.S539T|KIF6_ENST00000373213.4_Missense_Mutation_p.S434T|KIF6_ENST00000373216.3_Missense_Mutation_p.S595T	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	595					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTCATTTATACTTTCTCCCAG	0.358																																						uc003oot.2		NA																	0				breast(2)|central_nervous_system(1)	3						c.(1783-1785)AGT>ACT		kinesin family member 6							119.0	121.0	120.0					6																	39387750		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39387750C>G	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1784G>C	6.37:g.39387750C>G	ENSP00000287152:p.Ser595Thr					KIF6_uc003oos.2_Missense_Mutation_p.S46T|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S386T|KIF6_uc011dua.1_Missense_Mutation_p.S595T|KIF6_uc010jxb.1_Missense_Mutation_p.S539T	p.S595T	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			15	1879	-			595			Potential.		Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1784G>C	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.976260|1.976260	0.34848|0.34848	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000394362;ENST00000373216;ENST00000373213;ENST00000229913;ENST00000373215;ENST00000538893;ENST00000541946;ENST00000540362|ENST00000458470	T;T;T;T;T;T;T;T|.	0.41758|.	0.99;0.99;0.99;0.99;0.99;1.0;0.99;0.99|.	5.36|5.36	3.43|3.43	0.39272|0.39272	.|.	.|.	.|.	.|.	.|.	T|T	0.19846|0.19846	0.0477|0.0477	L|L	0.40543|0.40543	1.245|1.245	0.27008|0.27008	N|N	0.964757|0.964757	B;B;B;B|.	0.32467|.	0.372;0.017;0.014;0.162|.	B;B;B;B|.	0.30316|.	0.114;0.019;0.014;0.055|.	T|T	0.12400|0.12400	-1.0549|-1.0549	9|5	0.23302|.	T|.	0.38|.	.|.	7.5609|7.5609	0.27851|0.27851	0.0:0.7872:0.0:0.2128|0.0:0.7872:0.0:0.2128	.|.	595;539;595;595|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	T|L	595;46;595;434;46;595;539;46;46|487	ENSP00000287152:S595T;ENSP00000377889:S46T;ENSP00000362312:S595T;ENSP00000362309:S434T;ENSP00000229913:S46T;ENSP00000362311:S595T;ENSP00000441435:S539T;ENSP00000439064:S46T|.	ENSP00000229913:S46T|.	S|V	-|-	2|1	0|0	KIF6|KIF6	39495728|39495728	0.786000|0.786000	0.28738|0.28738	0.980000|0.980000	0.43619|0.43619	0.996000|0.996000	0.88848|0.88848	0.104000|0.104000	0.15313|0.15313	1.356000|1.356000	0.45884|0.45884	0.655000|0.655000	0.94253|0.94253	AGT|GTA		0.358	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		11	89	0	0	0	0	11	89				
EFHC1	114327	broad.mit.edu	37	6	52303383	52303383	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:52303383C>T	ENST00000371068.5	+	3	670	c.567C>T	c.(565-567)ttC>ttT	p.F189F	EFHC1_ENST00000538167.1_Silent_p.F170F|EFHC1_ENST00000433625.2_Silent_p.F98F	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	189	DM10 1. {ECO:0000255|PROSITE- ProRule:PRU00665}.					axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					GTGACCAATTCACACAGGTAT	0.383																																						uc003pap.3		NA																	0				ovary(2)|skin(1)	3						c.(565-567)TTC>TTT		EF-hand domain (C-terminal) containing 1							59.0	61.0	61.0					6																	52303383		2203	4300	6503	SO:0001819	synonymous_variant	114327					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding	g.chr6:52303383C>T	AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.567C>T	6.37:g.52303383C>T						EFHC1_uc011dwv.1_Silent_p.F98F|EFHC1_uc011dww.1_Silent_p.F170F	p.F189F	NM_018100	NP_060570	Q5JVL4	EFHC1_HUMAN			3	782	+	Lung NSC(77;0.109)		189			DM10 1.		B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Silent	SNP	ENST00000371068.5	37	c.567C>T	CCDS4942.1																																																																																				0.383	EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100		8	86	0	0	0	0	8	86				
ZNF292	23036	broad.mit.edu	37	6	87968682	87968682	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:87968682G>T	ENST00000369577.3	+	8	5378	c.5335G>T	c.(5335-5337)Ggt>Tgt	p.G1779C	ZNF292_ENST00000339907.4_Missense_Mutation_p.G1774C	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1779						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGGATCTCAGGGTGCTGGTGA	0.323																																						uc003plm.3		NA																	0				ovary(4)	4						c.(5335-5337)GGT>TGT		zinc finger protein 292							36.0	35.0	36.0					6																	87968682		1818	4078	5896	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87968682G>T	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.5335G>T	6.37:g.87968682G>T	ENSP00000358590:p.Gly1779Cys						p.G1779C	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	5376	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	1779					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.5335G>T	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235140	0.39498	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.07444	3.19;3.2	5.59	4.69	0.59074	.	0.422043	0.26535	N	0.023831	T	0.02571	0.0078	N	0.14661	0.345	0.80722	D	1	P	0.45348	0.856	B	0.40101	0.319	T	0.50931	-0.8769	10	0.59425	D	0.04	.	12.761	0.57363	0.0836:0.0:0.9164:0.0	.	1779	O60281	ZN292_HUMAN	C	1779;1774	ENSP00000358590:G1779C;ENSP00000342847:G1774C	ENSP00000342847:G1774C	G	+	1	0	ZNF292	88025401	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.466000	0.35310	1.401000	0.46761	0.557000	0.71058	GGT		0.323	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		5	22	1	0	0.000602214	0.000653741	5	22				
LACE1	246269	broad.mit.edu	37	6	108843529	108843529	+	Silent	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:108843529C>T	ENST00000368977.4	+	13	1533	c.1347C>T	c.(1345-1347)acC>acT	p.T449T		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	449						mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CCATGTTTACCGGAGAAGAGG	0.378																																						uc003psj.2		NA																	0				central_nervous_system(1)	1						c.(1345-1347)ACC>ACT		lactation elevated 1							77.0	70.0	73.0					6																	108843529		2203	4300	6503	SO:0001819	synonymous_variant	246269						ATP binding	g.chr6:108843529C>T	AF520418	CCDS5067.1	6q22.1	2006-11-10			ENSG00000135537	ENSG00000135537			16411	protein-coding gene	gene with protein product	"""ATPase family gene 1 homolog (S. cerevisiae)"""					12079282	Standard	XM_005266885		Approved	AFG1	uc003psj.3	Q8WV93	OTTHUMG00000015324	ENST00000368977.4:c.1347C>T	6.37:g.108843529C>T							p.T449T	NM_145315	NP_660358	Q8WV93	LACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)	13	1533	+		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)	449					Q8N6A3	Silent	SNP	ENST00000368977.4	37	c.1347C>T	CCDS5067.1	.	.	.	.	.	.	.	.	.	.	C	7.460	0.644446	0.14451	.	.	ENSG00000135537	ENST00000421954	.	.	.	5.86	-11.7	0.00046	.	.	.	.	.	T	0.39009	0.1062	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68469	-0.5400	4	.	.	.	-11.4065	13.3251	0.60454	0.0:0.1482:0.314:0.5377	.	.	.	.	L	317	.	.	P	+	2	0	LACE1	108950222	0.000000	0.05858	0.080000	0.20451	0.950000	0.60333	-4.691000	0.00198	-3.403000	0.00170	-0.940000	0.02684	CCG		0.378	LACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041719.4	NM_145315		11	73	0	0	0	0	11	73				
CCDC28A	25901	broad.mit.edu	37	6	139101113	139101113	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:139101113C>A	ENST00000332797.6	+	3	738	c.583C>A	c.(583-585)Caa>Aaa	p.Q195K		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	195										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGGAAAACTTCAAGCATTTGG	0.393																																						uc003qie.2		NA																	0					0						c.(583-585)CAA>AAA		coiled-coil domain containing 28A							85.0	83.0	84.0					6																	139101113		2203	4300	6503	SO:0001583	missense	25901							g.chr6:139101113C>A	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.583C>A	6.37:g.139101113C>A	ENSP00000332716:p.Gln195Lys						p.Q195K	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	3	738	+			195					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	c.583C>A	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	C	19.64	3.865826	0.71949	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.26223	1.75	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.34571	0.0902	L	0.52905	1.665	0.58432	D	0.999998	D	0.67145	0.996	P	0.61070	0.883	T	0.01844	-1.1262	10	0.54805	T	0.06	-23.8686	15.8442	0.78874	0.0:0.8651:0.1349:0.0	.	195	Q8IWP9	CC28A_HUMAN	K	195;82	ENSP00000332716:Q195K	ENSP00000026464:Q82K	Q	+	1	0	CCDC28A	139142806	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	5.630000	0.67805	2.827000	0.97445	0.655000	0.94253	CAA		0.393	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		11	62	1	0	2.27e-07	2.6e-07	11	62				
KATNA1	11104	broad.mit.edu	37	6	149919454	149919454	+	Missense_Mutation	SNP	A	A	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:149919454A>C	ENST00000335647.5	-	7	965	c.921T>G	c.(919-921)atT>atG	p.I307M	KATNA1_ENST00000335643.8_Missense_Mutation_p.I231M|KATNA1_ENST00000367411.2_Missense_Mutation_p.I307M|KATNA1_ENST00000494504.1_5'UTR					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CTATCTCATCAATAAATATGG	0.393																																						uc003qmr.1		NA																	0				skin(1)	1						c.(919-921)ATT>ATG		katanin p60 subunit A 1							87.0	89.0	88.0					6																	149919454		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149919454A>C	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.921T>G	6.37:g.149919454A>C	ENSP00000335106:p.Ile307Met					KATNA1_uc003qms.2_Missense_Mutation_p.I307M|KATNA1_uc003qmt.2_Missense_Mutation_p.I231M|KATNA1_uc011eed.1_Missense_Mutation_p.I231M	p.I307M	NM_007044	NP_008975	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	7	966	-		Ovarian(120;0.0164)	307						Missense_Mutation	SNP	ENST00000335647.5	37	c.921T>G	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	A	18.55	3.648670	0.67358	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411	D;D;D	0.96365	-3.99;-3.7;-3.99	5.68	3.31	0.37934	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.62154	1.92	0.80722	D	1	P;B;P	0.40197	0.706;0.145;0.562	P;P;P	0.58970	0.849;0.565;0.849	D	0.93096	0.6504	9	.	.	.	-1.2399	5.9001	0.18962	0.7413:0.0:0.1357:0.123	.	307;231;307	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	M	307;231;307	ENSP00000335106:I307M;ENSP00000335180:I231M;ENSP00000356381:I307M	.	I	-	3	3	KATNA1	149961147	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.060000	0.49955	0.523000	0.28482	0.482000	0.46254	ATT		0.393	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		20	59	0	0	0	0	20	59				
SYNJ2	8871	broad.mit.edu	37	6	158483059	158483059	+	Silent	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:158483059G>A	ENST00000355585.4	+	8	1065	c.990G>A	c.(988-990)acG>acA	p.T330T	SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367121.3_Silent_p.T330T|SYNJ2_ENST00000367122.2_Silent_p.T330T	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	330	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CGGGCGACACGCCTATGATCA	0.562																																						uc003qqx.1		NA																	0				skin(1)	1						c.(988-990)ACG>ACA		synaptojanin 2							167.0	176.0	173.0					6																	158483059		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483059G>A	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.990G>A	6.37:g.158483059G>A						SYNJ2_uc011efm.1_Intron|SYNJ2_uc003qqw.1_Silent_p.T330T|SYNJ2_uc003qqy.1_Silent_p.T43T|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.T279T|SYNJ2_uc003qqz.1_5'UTR	p.T330T	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	8	1065	+			330			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.990G>A	CCDS5254.1																																																																																				0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			40	286	0	0	0	0	40	286				
PLG	5340	broad.mit.edu	37	6	161160163	161160163	+	Silent	SNP	G	G	A	rs61731712	byFrequency	TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr6:161160163G>A	ENST00000308192.9	+	16	2004	c.1941G>A	c.(1939-1941)ccG>ccA	p.P647P		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	647	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATCTCGAACCGCATGTTCAGG	0.478																																						uc003qtm.3		NA																	0				skin(3)|ovary(1)	4						c.(1939-1941)CCG>CCA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						178.0	160.0	166.0					6																	161160163		2203	4300	6503	SO:0001819	synonymous_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161160163G>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1941G>A	6.37:g.161160163G>A							p.P647P	NM_000301	NP_000292	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	16	2004	+			647			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Silent	SNP	ENST00000308192.9	37	c.1941G>A	CCDS5279.1																																																																																				0.478	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		34	82	0	0	0	0	34	82				
ALKBH4	54784	broad.mit.edu	37	7	102098318	102098318	+	Silent	SNP	C	C	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:102098318C>G	ENST00000292566.3	-	3	471	c.432G>C	c.(430-432)ggG>ggC	p.G144G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	144					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			kidney(1)|lung(5)|skin(2)	8						AGCCCTCCAGCCCCGGGTAGA	0.667																																						uc003uzl.2		NA																	0					0						c.(430-432)GGG>GGC		alkB, alkylation repair homolog 4							27.0	28.0	28.0					7																	102098318		2203	4300	6503	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098318C>G	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.432G>C	7.37:g.102098318C>G						ALKBH4_uc003uzm.2_Silent_p.G71G	p.G144G	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN			3	437	-			144					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.432G>C	CCDS5723.1																																																																																				0.667	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		9	50	0	0	0	0	9	50				
ARHGEF5	7984	broad.mit.edu	37	7	144068318	144068318	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:144068318A>T	ENST00000056217.5	+	6	3770	c.3596A>T	c.(3595-3597)cAt>cTt	p.H1199L	ARHGEF5_ENST00000471847.2_Missense_Mutation_p.H121L	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	1199	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTGTGGATCATTTCCAACTT	0.488																																						uc003wel.2		NA																	0				skin(2)	2						c.(3595-3597)CAT>CTT		rho guanine nucleotide exchange factor 5							82.0	82.0	82.0					7																	144068318		2201	4296	6497	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144068318A>T	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.3596A>T	7.37:g.144068318A>T	ENSP00000056217:p.His1199Leu					ARHGEF5_uc003wek.2_Missense_Mutation_p.H1199L|ARHGEF5_uc003wem.2_Missense_Mutation_p.H54L	p.H1199L	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			6	3714	+	Melanoma(164;0.14)		1199			DH.		A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.3596A>T	CCDS34771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.82|18.82	3.704643|3.704643	0.68615|0.68615	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000056217;ENST00000344879;ENST00000471847|ENST00000474817	T;T|.	0.27104|.	1.69;1.69|.	4.79|4.79	4.79|4.79	0.61399|0.61399	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.78637|0.78637	2.42|2.42	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.993;1.0|.	P;D|.	0.91635|.	0.908;0.999|.	T|T	0.75291|0.75291	-0.3369|-0.3369	10|5	0.59425|.	D|.	0.04|.	-8.5194|-8.5194	12.5466|12.5466	0.56203|0.56203	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	54;1199|.	B3KQX6;Q12774|.	.;ARHG5_HUMAN|.	L|F	1199;54;121|453	ENSP00000056217:H1199L;ENSP00000418227:H121L|.	ENSP00000056217:H1199L|.	H|I	+|+	2|1	0|0	ARHGEF5|ARHGEF5	143699251|143699251	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.627000|0.627000	0.37826|0.37826	8.649000|8.649000	0.91067|0.91067	1.924000|1.924000	0.55735|0.55735	0.454000|0.454000	0.30748|0.30748	CAT|ATT		0.488	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		15	201	0	0	0	0	15	201				
CUL1	8454	broad.mit.edu	37	7	148483659	148483659	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr7:148483659G>A	ENST00000325222.4	+	12	1594	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	CUL1_ENST00000409469.1_Missense_Mutation_p.E439K|CUL1_ENST00000602748.1_Missense_Mutation_p.E439K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCAGAGGAGGCAGAACT	0.378																																						uc010lpg.2		NA																	0				lung(1)	1						c.(1315-1317)GAG>AAG		cullin 1							112.0	107.0	109.0					7																	148483659		2203	4300	6503	SO:0001583	missense	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148483659G>A	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1315G>A	7.37:g.148483659G>A	ENSP00000326804:p.Glu439Lys					CUL1_uc003wey.2_Missense_Mutation_p.E439K|CUL1_uc003wez.2_Missense_Mutation_p.E329K|CUL1_uc003wfa.2_Missense_Mutation_p.E100K	p.E439K	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		12	1841	+	Melanoma(164;0.15)		439					D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	ENST00000325222.4	37	c.1315G>A	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	G	36	5.658149	0.96734	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	5.18	5.18	0.71444	Cullin, N-terminal (1);Cullin homology (2);	0.048736	0.85682	D	0.000000	D	0.90686	0.7078	H	0.96175	3.78	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.69307	0.963;0.929	D	0.93664	0.6984	10	0.87932	D	0	-1.6956	18.7108	0.91656	0.0:0.0:1.0:0.0	.	366;439	E7EWR0;Q13616	.;CUL1_HUMAN	K	439;439;397;366	ENSP00000387160:E439K;ENSP00000326804:E439K	ENSP00000326804:E439K	E	+	1	0	CUL1	148114592	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.451000	0.97610	2.413000	0.81919	0.650000	0.86243	GAG		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		17	36	0	0	0	0	17	36				
ZFHX4	79776	broad.mit.edu	37	8	77616610	77616610	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:77616610T>G	ENST00000521891.2	+	2	735	c.287T>G	c.(286-288)aTg>aGg	p.M96R	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.M96R|ZFHX4_ENST00000455469.2_Missense_Mutation_p.M96R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.M96R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGAAATACATGGAACACCAC	0.502										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(286-288)ATG>AGG		zinc finger homeodomain 4							188.0	184.0	186.0					8																	77616610		2063	4193	6256	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616610T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.287T>G	8.37:g.77616610T>G	ENSP00000430497:p.Met96Arg	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.M96R|ZFHX4_uc003yau.1_Missense_Mutation_p.M96R|ZFHX4_uc003yaw.1_Missense_Mutation_p.M96R	p.M96R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	674	+			96					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.287T>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	11.23	1.578443	0.28180	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.43	5.43	0.79202	Zinc finger, C2H2-like (1);	0.000000	0.53938	U	0.000049	T	0.43590	0.1254	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.985;0.991;0.991;0.998	P;P;P;D	0.76575	0.622;0.791;0.791;0.988	T	0.43475	-0.9389	10	0.87932	D	0	.	15.6454	0.77046	0.0:0.0:0.0:1.0	.	96;96;96;96	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	R	96	ENSP00000430497:M96R;ENSP00000399605:M96R;ENSP00000050961:M96R;ENSP00000428525:M96R;ENSP00000429495:M96R;ENSP00000427775:M96R;ENSP00000427739:M96R;ENSP00000430848:M96R	ENSP00000050961:M96R	M	+	2	0	ZFHX4	77779165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.101000	0.71479	2.279000	0.76181	0.533000	0.62120	ATG		0.502	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		66	125	0	0	0	0	66	125				
PTP4A3	11156	broad.mit.edu	37	8	142441135	142441135	+	Silent	SNP	C	C	T	rs150126504		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr8:142441135C>T	ENST00000521578.1	+	6	1458	c.513C>T	c.(511-513)tgC>tgT	p.C171C	PTP4A3_ENST00000520105.1_Silent_p.C146C|PTP4A3_ENST00000524028.1_Silent_p.C85C|PTP4A3_ENST00000329397.1_Silent_p.C171C|MROH5_ENST00000430863.1_RNA|PTP4A3_ENST00000349124.1_Silent_p.C146C			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	171					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CCCGGTGCTGCGTTATGTAGC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18932	0.0		0.0	False		,,,				2504	0.0					uc003ywg.1		NA																	0					0						c.(511-513)TGC>TGT		protein tyrosine phosphatase type IVA, member 3		C	,	6,4400	11.4+/-27.6	0,6,2197	132.0	109.0	116.0		438,513	-2.8	0.8	8	dbSNP_134	116	0,8596		0,0,4298	no	coding-synonymous,coding-synonymous	PTP4A3	NM_007079.2,NM_032611.1	,	0,6,6495	TT,TC,CC		0.0,0.1362,0.0461	,	146/149,171/174	142441135	6,12996	2203	4298	6501	SO:0001819	synonymous_variant	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142441135C>T	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.513C>T	8.37:g.142441135C>T						PTP4A3_uc003ywh.1_Silent_p.C146C|PTP4A3_uc010met.1_Missense_Mutation_p.A85V	p.C171C	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		5	847	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		171					Q8IVN5|Q99849|Q9BTW5	Silent	SNP	ENST00000521578.1	37	c.513C>T	CCDS6383.1																																																																																				0.622	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		16	84	0	0	0	0	16	84				
DNAI1	27019	broad.mit.edu	37	9	34514718	34514718	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:34514718C>A	ENST00000242317.4	+	18	1970	c.1799C>A	c.(1798-1800)gCa>gAa	p.A600E		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	600					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GTGTTCGCAGCAGTCACCACA	0.567									Kartagener syndrome																													uc003zum.2		NA																	0					0						c.(1798-1800)GCA>GAA		dynein, axonemal, intermediate chain 1							141.0	127.0	132.0					9																	34514718		2203	4300	6503	SO:0001583	missense	27019	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514718C>A	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1799C>A	9.37:g.34514718C>A	ENSP00000242317:p.Ala600Glu						p.A600E	NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	18	1992	+	all_epithelial(49;0.244)		600			WD 4.		B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Missense_Mutation	SNP	ENST00000242317.4	37	c.1799C>A	CCDS6557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.401156|4.401156	0.83120|0.83120	.|.	.|.	ENSG00000122735|ENSG00000122735	ENST00000379040;ENST00000242317|ENST00000442556	T|.	0.72282|.	-0.64|.	5.14|5.14	5.14|5.14	0.70334|0.70334	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.80793|0.80793	0.4691|0.4691	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	D|.	0.63880|.	0.993|.	D|.	0.65443|.	0.935|.	D|D	0.84263|0.84263	0.0484|0.0484	10|5	0.87932|.	D|.	0|.	.|.	13.9765|13.9765	0.64277|0.64277	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	600|.	Q9UI46|.	DNAI1_HUMAN|.	E|K	156;600|104	ENSP00000242317:A600E|.	ENSP00000242317:A600E|.	A|Q	+|+	2|1	0|0	DNAI1|DNAI1	34504718|34504718	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.857000|0.857000	0.48899|0.48899	5.187000|5.187000	0.65087|0.65087	2.666000|2.666000	0.90696|0.90696	0.561000|0.561000	0.74099|0.74099	GCA|CAG		0.567	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			24	93	1	0	1.66e-10	2.01e-10	24	93				
SVEP1	79987	broad.mit.edu	37	9	113148250	113148250	+	Silent	SNP	G	G	A	rs371489746		TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr9:113148250G>A	ENST00000401783.2	-	43	10501	c.10165C>T	c.(10165-10167)Ctg>Ttg	p.L3389L	SVEP1_ENST00000374469.1_Silent_p.L3366L|SVEP1_ENST00000297826.5_Silent_p.L1315L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3389	Sushi 33. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCTGCAGCAGAAAACCTTCC	0.493																																						uc010mtz.2		NA																	0				ovary(7)	7						c.(10165-10167)CTG>TTG		polydom							105.0	103.0	104.0					9																	113148250		1996	4173	6169	SO:0001819	synonymous_variant	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113148250G>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.10165C>T	9.37:g.113148250G>A						SVEP1_uc010mty.2_Silent_p.L1315L	p.L3389L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			43	10502	-			3389			Sushi 33.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Silent	SNP	ENST00000401783.2	37	c.10165C>T	CCDS48004.1																																																																																				0.493	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	50	0	0	0	0	4	50				
PNPLA4	8228	broad.mit.edu	37	X	7868777	7868777	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:7868777C>T	ENST00000381042.4	-	7	882	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	PNPLA4_ENST00000537427.1_Missense_Mutation_p.G151S|PNPLA4_ENST00000444736.1_Missense_Mutation_p.G238S	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	238					lipid catabolic process (GO:0016042)		triglyceride lipase activity (GO:0004806)			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				TCATCAAAACCACACTGATAC	0.343																																						uc011mhq.1		NA																	0					0						c.(712-714)GGT>AGT		patatin-like phospholipase domain containing 4							56.0	51.0	53.0					X																	7868777		2203	4298	6501	SO:0001583	missense	8228				lipid catabolic process		triglyceride lipase activity	g.chrX:7868777C>T	U03886	CCDS14129.1, CCDS55368.1	Xp22.3	2014-03-14			ENSG00000006757	ENSG00000006757	3.1.1.3	"""Patatin-like phospholipase domain containing"""	24887	protein-coding gene	gene with protein product		300102				7806223, 16799181, 19029121	Standard	NM_004650		Approved	DXS1283E, GS2, iPLA2eta	uc011mhr.1	P41247	OTTHUMG00000021103	ENST00000381042.4:c.712G>A	X.37:g.7868777C>T	ENSP00000370430:p.Gly238Ser					PNPLA4_uc011mhr.1_Missense_Mutation_p.G238S|PNPLA4_uc011mhs.1_Missense_Mutation_p.G151S	p.G238S	NM_004650	NP_004641	P41247	PLPL4_HUMAN			7	874	-		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)	238					A8K1H3|B4E362|Q8WW83	Missense_Mutation	SNP	ENST00000381042.4	37	c.712G>A	CCDS14129.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100072	0.37048	.	.	ENSG00000006757	ENST00000381042;ENST00000444736;ENST00000537427	D;D;D	0.81908	-1.55;-1.55;-1.55	4.38	3.44	0.39384	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.91290	0.7254	M	0.91406	3.205	0.20926	N	0.999824	D	0.89917	1.0	D	0.97110	1.0	T	0.82866	-0.0245	10	0.87932	D	0	-24.3176	8.7133	0.34397	0.0:0.7721:0.2279:0.0	.	238	P41247	PLPL4_HUMAN	S	238;238;151	ENSP00000370430:G238S;ENSP00000415245:G238S;ENSP00000443157:G151S	ENSP00000370430:G238S	G	-	1	0	PNPLA4	7828777	0.926000	0.31397	0.027000	0.17364	0.180000	0.23129	3.080000	0.50112	1.802000	0.52723	0.594000	0.82650	GGT		0.343	PNPLA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055687.1	NM_004650		5	10	0	0	0	0	5	10				
YY2	404281	broad.mit.edu	37	X	21875473	21875473	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:21875473G>C	ENST00000429584.2	+	1	1369	c.871G>C	c.(871-873)Gct>Cct	p.A291P	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	291	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						ATGTGGCAAAGCTTTTCTTGA	0.537																																						uc011mjp.1		NA																	0				breast(1)|skin(1)	2						c.(871-873)GCT>CCT		YY2 transcription factor							156.0	151.0	153.0					X																	21875473		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875473G>C	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.871G>C	X.37:g.21875473G>C	ENSP00000389381:p.Ala291Pro					MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Missense_Mutation_p.A509P|MBTPS2_uc004dab.2_Intron	p.A291P	NM_206923	NP_996806	O15391	TYY2_HUMAN			1	871	+			291			Mediates transcriptional repression.|C2H2-type 2.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.871G>C	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115334	0.77323	.	.	ENSG00000230797	ENST00000429584	T	0.41758	0.99	4.43	4.43	0.53597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.56761	0.2007	L	0.47716	1.5	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60316	-0.7287	10	0.87932	D	0	.	13.6995	0.62599	0.0:0.0:1.0:0.0	.	291	O15391	TYY2_HUMAN	P	291	ENSP00000389381:A291P	ENSP00000389381:A291P	A	+	1	0	YY2	21785394	1.000000	0.71417	0.999000	0.59377	0.497000	0.33675	5.544000	0.67231	2.190000	0.69967	0.600000	0.82982	GCT		0.537	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		52	82	0	0	0	0	52	82				
IGSF1	3547	broad.mit.edu	37	X	130409627	130409627	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chrX:130409627G>T	ENST00000361420.3	-	16	3088	c.3009C>A	c.(3007-3009)caC>caA	p.H1003Q	IGSF1_ENST00000370910.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370904.1_Missense_Mutation_p.H994Q|IGSF1_ENST00000370903.3_Missense_Mutation_p.H1008Q			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1003	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.H1003Q(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCCTTCTTTGTGCAGAATGT	0.527																																						uc004ewd.2		NA																	2	Substitution - Missense(2)		kidney(2)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(3007-3009)CAC>CAA		immunoglobulin superfamily, member 1 isoform 1							113.0	98.0	103.0					X																	130409627		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409627G>T	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3009C>A	X.37:g.130409627G>T	ENSP00000355010:p.His1003Gln					IGSF1_uc004ewe.3_Missense_Mutation_p.H997Q|IGSF1_uc004ewf.2_Missense_Mutation_p.H983Q	p.H1003Q	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3247	-			1003			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.3009C>A	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901242	0.33535	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.32	2.45	0.29901	Immunoglobulin-like fold (1);	0.341686	0.22142	N	0.064031	T	0.22820	0.0551	L	0.60455	1.87	0.26862	N	0.967927	D;P;D	0.63880	0.993;0.563;0.987	D;B;D	0.75020	0.972;0.387;0.985	T	0.03957	-1.0989	10	0.38643	T	0.18	.	6.9963	0.24784	0.096:0.3263:0.5777:0.0	.	994;447;1003	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	Q	994;1003;994;1008	ENSP00000359947:H994Q;ENSP00000355010:H1003Q;ENSP00000359941:H994Q;ENSP00000359940:H1008Q	ENSP00000355010:H1003Q	H	-	3	2	IGSF1	130237308	1.000000	0.71417	0.997000	0.53966	0.554000	0.35429	0.669000	0.25142	0.242000	0.21303	0.600000	0.82982	CAC		0.527	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			8	34	1	0	5.69e-11	6.91e-11	8	34				
CTNNA1	1495	broad.mit.edu	37	5	138145779	138145780	+	In_Frame_Ins	INS	-	-	GTG			TCGA-CN-6022-01A-21D-1683-08	TCGA-CN-6022-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	90cd2296-7133-4cbe-99cb-84b084eb88cd	9d1d3ad1-bcca-4d02-81e3-0807015fdd83	g.chr5:138145779_138145780insGTG	ENST00000302763.7	+	4	444_445	c.354_355insGTG	c.(355-357)gtg>GTGgtg	p.119_119V>VV	CTNNA1_ENST00000518825.1_In_Frame_Ins_p.119_119V>VV|CTNNA1_ENST00000355078.5_In_Frame_Ins_p.16_16V>VV	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	119	Interaction with JUP and CTNNB1.|Involved in homodimerization.				adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTGCTCTTCTGTGAAGCGAGG	0.455																																						uc003ldh.2		NA																	0				breast(6)|ovary(2)|large_intestine(2)|kidney(1)	11						c.(352-357)insGTG		catenin, alpha 1																																				SO:0001652	inframe_insertion	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138145779_138145780insGTG	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.355_357dupGTG	5.37:g.138145780_138145782dupGTG	ENSP00000304669:p.Val119dup					CTNNA1_uc011cyx.1_In_Frame_Ins_p.16_17insV|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_In_Frame_Ins_p.119_120insV	p.119_120insV	NM_001903	NP_001894	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		4	449_450	+			119_120			Interaction with JUP and CTNNB1.|Involved in homodimerization.		Q12795|Q8N1C0	In_Frame_Ins	INS	ENST00000302763.7	37	c.354_355insGTG	CCDS34243.1																																																																																				0.455	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		15	84	NA	NA	NA	NA	15	84	---	---	---	---
