#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
SH3D21	79729	broad.mit.edu	37	1	36785434	36785434	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:36785434C>T	ENST00000426732.2	+	13	1107	c.822C>T	c.(820-822)ctC>ctT	p.L274L	SH3D21_ENST00000312808.4_Silent_p.L36L|SH3D21_ENST00000505871.1_Silent_p.L279L|SH3D21_ENST00000453908.2_Silent_p.L390L|EVA1B_ENST00000490466.1_5'Flank			A4FU49	SH321_HUMAN	SH3 domain containing 21	274						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						AGAAGACCCTCACTCTAGGGG	0.617																																						uc010oia.1		NA																	0					0						c.(1168-1170)CTC>CTT		SH3 domain-containing protein C1orf113 isoform							51.0	60.0	57.0					1																	36785434		2203	4300	6503	SO:0001819	synonymous_variant	79729							g.chr1:36785434C>T	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.822C>T	1.37:g.36785434C>T						C1orf113_uc010oib.1_Silent_p.L279L|C1orf113_uc010oic.1_RNA|C1orf113_uc009vuz.1_Silent_p.L36L	p.L390L	NM_001162530	NP_001156002	A4FU49	SH321_HUMAN			14	1198	+		Myeloproliferative disorder(586;0.0393)	274					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37	c.1170C>T																																																																																					0.617	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		12	47	0	0	0	0	12	47				
SLC1A7	6512	broad.mit.edu	37	1	53580588	53580588	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:53580588G>A	ENST00000371494.4	-	3	400	c.273C>T	c.(271-273)ctC>ctT	p.L91L	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Silent_p.L91L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	91					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		ACGCCACGGTGAGGACGCCCA	0.647																																					NSCLC(128;80 1811 21245 38490 51715)	uc001cuy.2		NA																	0				ovary(2)|large_intestine(1)	3						c.(271-273)CTC>CTT		solute carrier family 1 (glutamate transporter),	L-Glutamic Acid(DB00142)						90.0	72.0	78.0					1																	53580588		2203	4300	6503	SO:0001819	synonymous_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53580588G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.273C>T	1.37:g.53580588G>A						SLC1A7_uc001cuz.3_Silent_p.L91L|uc001cva.1_RNA	p.L91L	NM_006671	NP_006662	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	3	441	-			91					Q5VVZ0|Q969Z8|Q9BW45	Silent	SNP	ENST00000371494.4	37	c.273C>T	CCDS574.1																																																																																				0.647	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		6	19	0	0	0	0	6	19				
CACHD1	57685	broad.mit.edu	37	1	65142628	65142628	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:65142628A>G	ENST00000371073.2	+	22	3026	c.3026A>G	c.(3025-3027)gAc>gGc	p.D1009G	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.D958G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1009					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ACAGCTATTGACCCTGGCCTG	0.532																																						uc001dbo.1		NA																	0				ovary(2)	2						c.(2872-2874)GAC>GGC		cache domain containing 1							113.0	103.0	106.0					1																	65142628		2203	4300	6503	SO:0001583	missense	57685				calcium ion transport	integral to membrane		g.chr1:65142628A>G	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3026A>G	1.37:g.65142628A>G	ENSP00000360113:p.Asp1009Gly					CACHD1_uc001dbp.1_Missense_Mutation_p.D713G|CACHD1_uc001dbq.1_Missense_Mutation_p.D713G|CACHD1_uc010opa.1_Missense_Mutation_p.D202G	p.D958G	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			22	2978	+			1009			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37	c.2873A>G		.	.	.	.	.	.	.	.	.	.	A	17.32	3.360640	0.61403	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.24538	1.85;1.85	5.78	5.78	0.91487	.	0.085018	0.85682	D	0.000000	T	0.15696	0.0378	L	0.43152	1.355	0.80722	D	1	P	0.34522	0.455	B	0.37198	0.243	T	0.02603	-1.1135	10	0.40728	T	0.16	-26.4771	16.1205	0.81351	1.0:0.0:0.0:0.0	.	1009	Q5VU97	CAHD1_HUMAN	G	1009;958	ENSP00000360113:D1009G;ENSP00000290039:D958G	ENSP00000290039:D958G	D	+	2	0	CACHD1	64915216	1.000000	0.71417	0.884000	0.34674	0.968000	0.65278	8.917000	0.92751	2.205000	0.71048	0.533000	0.62120	GAC		0.532	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		14	106	0	0	0	0	14	106				
FAM73A	374986	broad.mit.edu	37	1	78325024	78325024	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:78325024G>C	ENST00000370791.3	+	10	1173	c.1141G>C	c.(1141-1143)Gac>Cac	p.D381H	FAM73A_ENST00000443751.2_Missense_Mutation_p.D343H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	381						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTGCCTAGGAGACAGTGATTT	0.383																																						uc001dhx.2		NA																	0				ovary(1)	1						c.(1141-1143)GAC>CAC		hypothetical protein LOC374986							139.0	134.0	136.0					1																	78325024		2203	4300	6503	SO:0001583	missense	374986					integral to membrane		g.chr1:78325024G>C		CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.1141G>C	1.37:g.78325024G>C	ENSP00000359827:p.Asp381His					FAM73A_uc010ork.1_Missense_Mutation_p.D381H|FAM73A_uc010orl.1_Missense_Mutation_p.D343H|FAM73A_uc001dhy.1_3'UTR	p.D381H	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN		Colorectal(170;0.226)	10	1173	+			381					Q6MZG0	Missense_Mutation	SNP	ENST00000370791.3	37	c.1141G>C	CCDS681.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271803	0.80469	.	.	ENSG00000180488	ENST00000370791;ENST00000443751	T;T	0.36340	1.26;1.26	5.19	5.19	0.71726	.	0.105878	0.64402	D	0.000007	T	0.58250	0.2109	M	0.84082	2.675	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.999	D;D;D	0.67900	0.919;0.954;0.954	T	0.64909	-0.6296	10	0.87932	D	0	-25.3692	19.083	0.93190	0.0:0.0:1.0:0.0	.	343;381;381	F8W7S1;B7ZLZ8;Q8NAN2	.;.;FA73A_HUMAN	H	381;343	ENSP00000359827:D381H;ENSP00000393675:D343H	ENSP00000359827:D381H	D	+	1	0	FAM73A	78097612	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.019000	0.93662	2.587000	0.87381	0.655000	0.94253	GAC		0.383	FAM73A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026931.1	NM_198549		8	55	0	0	0	0	8	55				
DNASE2B	58511	broad.mit.edu	37	1	84864283	84864283	+	Silent	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:84864283A>T	ENST00000370665.3	+	1	69	c.36A>T	c.(34-36)acA>acT	p.T12T		NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	12					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		TGCTAAGAACATCCTTTGCTT	0.463																																					Pancreas(54;788 1175 11852 16034 30034)	uc001djt.1		NA																	0					0						c.(34-36)ACA>ACT	Direct_reversal_of_damage	deoxyribonuclease II beta isoform 1 precursor							221.0	229.0	226.0					1																	84864283		2034	4197	6231	SO:0001819	synonymous_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84864283A>T	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	ENST00000370665.3:c.36A>T	1.37:g.84864283A>T						UOX_uc009wcg.2_5'Flank	p.T12T	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	1	69	+			12					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Silent	SNP	ENST00000370665.3	37	c.36A>T	CCDS44167.1																																																																																				0.463	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	NM_021233		10	186	0	0	0	0	10	186				
SYDE2	84144	broad.mit.edu	37	1	85648848	85648848	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85648848A>T	ENST00000341460.5	-	3	1526	c.1477T>A	c.(1477-1479)Ttg>Atg	p.L493M		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	493					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATAATTCCCAATTCAGTACTA	0.328																																						uc009wcm.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1477-1479)TTG>ATG		synapse defective 1, Rho GTPase, homolog 2							77.0	77.0	77.0					1																	85648848		1830	4090	5920	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648848A>T	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.1477T>A	1.37:g.85648848A>T	ENSP00000340594:p.Leu493Met					SYDE2_uc001dku.3_Missense_Mutation_p.L493M	p.L493M	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	1526	-			493					Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.1477T>A	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	A	13.59	2.283917	0.40394	.	.	ENSG00000097096	ENST00000341460	T	0.07908	3.15	5.41	2.69	0.31865	.	0.346509	0.26241	N	0.025517	T	0.09555	0.0235	M	0.72118	2.19	0.09310	N	1	P;D	0.76494	0.956;0.999	P;D	0.66497	0.694;0.944	T	0.12734	-1.0536	10	0.59425	D	0.04	.	3.9066	0.09185	0.4897:0.0:0.3153:0.195	.	493;493	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	M	493	ENSP00000340594:L493M	ENSP00000340594:L493M	L	-	1	2	SYDE2	85421436	0.050000	0.20438	0.998000	0.56505	0.926000	0.56050	0.293000	0.19029	0.245000	0.21373	0.528000	0.53228	TTG		0.328	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			12	81	0	0	0	0	12	81				
DDAH1	23576	broad.mit.edu	37	1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:85790448G>A	ENST00000284031.8	-	5	810	c.716C>T	c.(715-717)cCg>cTg	p.P239L	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.P136L|DDAH1_ENST00000542148.1_Missense_Mutation_p.P139L|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000426972.3_Missense_Mutation_p.P146L|DDAH1_ENST00000539042.1_Missense_Mutation_p.P239L	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	239					arginine catabolic process (GO:0006527)|citrulline metabolic process (GO:0000052)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of angiogenesis (GO:0045766)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of systemic arterial blood pressure (GO:0003073)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|catalytic activity (GO:0003824)|dimethylargininase activity (GO:0016403)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473																																						uc001dlb.2		NA																	0					0						c.(715-717)CCG>CTG		dimethylarginine dimethylaminohydrolase 1	L-Citrulline(DB00155)						108.0	107.0	108.0					1																	85790448		2203	4300	6503	SO:0001583	missense	23576				arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding	g.chr1:85790448G>A	AB001915	CCDS705.1, CCDS44170.1	1p22	2008-02-05			ENSG00000153904	ENSG00000153904	3.5.3.18		2715	protein-coding gene	gene with protein product		604743				9874257	Standard	NM_012137		Approved	DDAH	uc001dlb.3	O94760	OTTHUMG00000010578	ENST00000284031.8:c.716C>T	1.37:g.85790448G>A	ENSP00000284031:p.Pro239Leu					DDAH1_uc001dlc.2_Missense_Mutation_p.P136L|uc001dla.1_Intron|DDAH1_uc010osb.1_Missense_Mutation_p.P139L|DDAH1_uc009wco.2_Missense_Mutation_p.P136L	p.P239L	NM_012137	NP_036269	O94760	DDAH1_HUMAN		all cancers(265;0.0318)|Epithelial(280;0.0657)	5	877	-			239					Q5HYC8|Q86XK5	Missense_Mutation	SNP	ENST00000284031.8	37	c.716C>T	CCDS705.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292188	0.59976	.	.	ENSG00000153904	ENST00000284031;ENST00000539042;ENST00000535924;ENST00000426972;ENST00000542148	.	.	.	5.87	4.96	0.65561	.	0.159055	0.64402	D	0.000020	T	0.72566	0.3476	M	0.87328	2.875	0.80722	D	1	B;D	0.71674	0.438;0.998	B;P	0.58210	0.139;0.835	T	0.78740	-0.2086	9	0.56958	D	0.05	-2.6721	14.974	0.71257	0.0682:0.0:0.9318:0.0	.	139;239	B4DYP1;O94760	.;DDAH1_HUMAN	L	239;239;136;146;139	.	ENSP00000284031:P239L	P	-	2	0	DDAH1	85563036	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.431000	0.97494	1.501000	0.48654	-0.136000	0.14681	CCG		0.473	DDAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029189.1			11	78	0	0	0	0	11	78				
PKLR	5313	broad.mit.edu	37	1	155264372	155264372	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:155264372C>T	ENST00000342741.4	-	6	904	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	PKLR_ENST00000392414.3_Missense_Mutation_p.R258Q	NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	289					ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|positive regulation of cellular metabolic process (GO:0031325)|pyruvate biosynthetic process (GO:0042866)|response to ATP (GO:0033198)|response to cAMP (GO:0051591)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to nutrient (GO:0007584)|response to other organism (GO:0051707)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|pyruvate kinase activity (GO:0004743)	p.R289L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GCTGGCTTTCCGCACAAAGGA	0.627																																						uc001fkb.3		NA																	1	Substitution - Missense(1)	p.R289L(1)	ovary(1)	skin(4)|ovary(1)	5						c.(865-867)CGG>CAG		pyruvate kinase, liver and RBC isoform 1	Pyruvic acid(DB00119)						91.0	80.0	84.0					1																	155264372		2203	4300	6503	SO:0001583	missense	5313				endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	g.chr1:155264372C>T	BC025737, M15465	CCDS1109.1, CCDS44240.1	1q22	2012-10-02			ENSG00000143627	ENSG00000143627	2.7.1.40		9020	protein-coding gene	gene with protein product		609712				3566732	Standard	NM_000298		Approved		uc001fkb.4	P30613	OTTHUMG00000035875	ENST00000342741.4:c.866G>A	1.37:g.155264372C>T	ENSP00000339933:p.Arg289Gln					RAG1AP1_uc010pey.1_Intron|PKLR_uc001fka.3_Missense_Mutation_p.R258Q	p.R289Q	NM_000298	NP_000289	P30613	KPYR_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		6	905	-	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		289					O75758|P11973	Missense_Mutation	SNP	ENST00000342741.4	37	c.866G>A	CCDS1109.1	.	.	.	.	.	.	.	.	.	.	C	30	5.054738	0.93793	.	.	ENSG00000143627	ENST00000423816;ENST00000392414;ENST00000342741;ENST00000271946	D;D	0.99771	-6.71;-6.71	4.48	4.48	0.54585	Pyruvate/Phosphoenolpyruvate kinase (2);Pyruvate kinase, barrel (1);	0.000000	0.85682	D	0.000000	D	0.99177	0.9715	M	0.64080	1.96	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.45881	0.496;0.496	D	0.98945	1.0792	10	0.66056	D	0.02	-24.4399	15.0157	0.71581	0.0:1.0:0.0:0.0	.	289;280	P30613;B1AVT1	KPYR_HUMAN;.	Q	314;258;289;203	ENSP00000376214:R258Q;ENSP00000339933:R289Q	ENSP00000271946:R203Q	R	-	2	0	PKLR	153530996	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	5.786000	0.69006	2.485000	0.83878	0.467000	0.42956	CGG		0.627	PKLR-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000087407.2	NM_000298		6	49	0	0	0	0	6	49				
HMCN1	83872	broad.mit.edu	37	1	186026439	186026439	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:186026439G>A	ENST00000271588.4	+	46	7447	c.7218G>A	c.(7216-7218)ttG>ttA	p.L2406L	HMCN1_ENST00000367492.2_Silent_p.L2406L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2406	Ig-like C2-type 22.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGTATCTTTGACTTGTGAAG	0.423																																						uc001grq.1		NA																	0				ovary(22)|skin(1)	23						c.(7216-7218)TTG>TTA		hemicentin 1 precursor							113.0	112.0	113.0					1																	186026439		2203	4299	6502	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186026439G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.7218G>A	1.37:g.186026439G>A							p.L2406L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			46	7447	+			2406			Ig-like C2-type 22.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.7218G>A	CCDS30956.1																																																																																				0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		8	58	0	0	0	0	8	58				
ZBTB41	360023	broad.mit.edu	37	1	197128556	197128556	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:197128556C>T	ENST00000367405.4	-	10	2731	c.2663G>A	c.(2662-2664)gGa>gAa	p.G888E	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	888					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(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGTAATGTTCCAAGATAAGA	0.373																																						uc001gtx.1		NA																	0				ovary(1)|skin(1)	2						c.(2662-2664)GGA>GAA		zinc finger and BTB domain containing 41							160.0	161.0	161.0					1																	197128556		2203	4299	6502	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197128556C>T		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.2663G>A	1.37:g.197128556C>T	ENSP00000356375:p.Gly888Glu					ZBTB41_uc009wyz.1_RNA	p.G888E	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			10	2732	-			888					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.2663G>A	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.632561	0.87660	.	.	ENSG00000177888	ENST00000367405	T	0.14144	2.53	5.63	5.63	0.86233	.	0.000000	0.42548	D	0.000683	T	0.31389	0.0795	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01541	-1.1329	10	0.87932	D	0	.	19.6732	0.95918	0.0:1.0:0.0:0.0	.	888	Q5SVQ8	ZBT41_HUMAN	E	888	ENSP00000356375:G888E	ENSP00000356375:G888E	G	-	2	0	ZBTB41	195395179	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.276000	0.78559	2.657000	0.90304	0.591000	0.81541	GGA		0.373	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		15	89	0	0	0	0	15	89				
SOX13	9580	broad.mit.edu	37	1	204085730	204085730	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204085730G>A	ENST00000367204.1	+	5	623	c.514G>A	c.(514-516)Gag>Aag	p.E172K	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	172					anatomical structure morphogenesis (GO:0009653)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AGCCCACTCGGAGCAGAAGAA	0.597																																						uc001ham.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(514-516)GAG>AAG		SRY-box 13							56.0	62.0	60.0					1																	204085730		2040	4208	6248	SO:0001583	missense	9580				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:204085730G>A		CCDS44299.1	1q32	2008-07-18			ENSG00000143842	ENSG00000143842		"""SRY (sex determining region Y)-boxes"""	11192	protein-coding gene	gene with protein product	"""islet cell antibody 12"", ""SRY-related HMG-box gene 13"", ""type 1 diabetes autoantigen"", ""SRY-box 13"""	604748				10198172	Standard	NM_005686		Approved	Sox-13, ICA12, MGC117216	uc001ham.3	Q9UN79	OTTHUMG00000036050	ENST00000367204.1:c.514G>A	1.37:g.204085730G>A	ENSP00000356172:p.Glu172Lys					SOX13_uc001hal.2_Missense_Mutation_p.E172K|SOX13_uc010pqp.1_Missense_Mutation_p.E172K|SOX13_uc010pqq.1_Missense_Mutation_p.E39K	p.E172K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		5	1109	+	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		172					B4E2B0|O95275|O95826|Q3KQV7|Q5SXX1|Q9UHW7	Missense_Mutation	SNP	ENST00000367204.1	37	c.514G>A	CCDS44299.1	.	.	.	.	.	.	.	.	.	.	G	35	5.431568	0.96150	.	.	ENSG00000143842	ENST00000367204;ENST00000528591	D	0.98437	-4.93	5.06	5.06	0.68205	.	0.101015	0.64402	D	0.000003	D	0.98741	0.9577	M	0.71581	2.175	0.58432	D	0.999998	D;D;D;D	0.71674	0.997;0.997;0.997;0.998	D;D;D;D	0.80764	0.985;0.985;0.985;0.994	D	0.99844	1.1064	10	0.59425	D	0.04	.	18.0218	0.89257	0.0:0.0:1.0:0.0	.	39;40;172;154	B4DX26;B4E3N9;Q9UN79;Q5SXX2	.;.;SOX13_HUMAN;.	K	172	ENSP00000356172:E172K	ENSP00000356172:E172K	E	+	1	0	SOX13	202352353	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	9.476000	0.97823	2.338000	0.79540	0.655000	0.94253	GAG		0.597	SOX13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087881.2	NM_005686		7	77	0	0	0	0	7	77				
NFASC	23114	broad.mit.edu	37	1	204943329	204943329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:204943329G>A	ENST00000401399.1	+	12	1501	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	NFASC_ENST00000338515.6_Silent_p.S434S|NFASC_ENST00000367169.4_Silent_p.S434S|NFASC_ENST00000513543.1_Silent_p.S445S|NFASC_ENST00000338586.6_Silent_p.S434S|NFASC_ENST00000360049.4_Silent_p.S445S|NFASC_ENST00000367171.4_Silent_p.S434S|NFASC_ENST00000339876.6_Silent_p.S434S|NFASC_ENST00000539706.1_Silent_p.S445S|NFASC_ENST00000367172.4_Silent_p.S434S|NFASC_ENST00000404076.1_Silent_p.S428S|NFASC_ENST00000403080.1_Silent_p.S434S|NFASC_ENST00000404907.1_Silent_p.S445S|NFASC_ENST00000367170.4_Silent_p.S434S			O94856	NFASC_HUMAN	neurofascin	434	Ig-like C2-type 5.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGATGCTGTCGCCCCGGAACC	0.552																																						uc001hbj.2		NA																	0				ovary(3)|breast(1)|central_nervous_system(1)|skin(1)	6						c.(1300-1302)TCG>TCA		neurofascin isoform 1 precursor							71.0	52.0	58.0					1																	204943329		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204943329G>A	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.1302G>A	1.37:g.204943329G>A						NFASC_uc001hbh.2_Silent_p.S434S|NFASC_uc010pqz.1_Silent_p.S428S|NFASC_uc010pra.1_Silent_p.S445S|NFASC_uc001hbi.2_Silent_p.S445S|NFASC_uc009xbg.1_Silent_p.S518S|NFASC_uc010prb.1_Silent_p.S445S|NFASC_uc010prc.1_5'UTR|NFASC_uc001hbk.1_Silent_p.S255S	p.S434S	NM_001005388	NP_001005388	O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		13	1630	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		434			Extracellular (Potential).|Ig-like C2-type 5.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.1302G>A	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	G	10.05	1.243989	0.22796	.	.	ENSG00000163531	ENST00000367173	.	.	.	5.55	-11.1	0.00147	.	.	.	.	.	T	0.34019	0.0883	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42015	-0.9476	4	.	.	.	.	3.5561	0.07865	0.1426:0.4144:0.2858:0.1573	.	.	.	.	H	404	.	.	R	+	2	0	NFASC	203209952	0.000000	0.05858	0.372000	0.25991	0.828000	0.46876	-2.038000	0.01419	-2.040000	0.00916	-1.593000	0.00842	CGC		0.552	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		4	16	0	0	0	0	4	16				
TTC13	79573	broad.mit.edu	37	1	231057232	231057232	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:231057232C>G	ENST00000366661.4	-	16	1840	c.1833G>C	c.(1831-1833)atG>atC	p.M611I	TTC13_ENST00000414259.1_Missense_Mutation_p.M558I|TTC13_ENST00000366662.4_Missense_Mutation_p.M558I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	611										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CTAGGTATCTCATGTTGATCA	0.269																																						uc001huf.3		NA																	0				ovary(1)|skin(1)	2						c.(1831-1833)ATG>ATC		tetratricopeptide repeat domain 13 isoform a							35.0	38.0	37.0					1																	231057232		2177	4271	6448	SO:0001583	missense	79573						binding	g.chr1:231057232C>G		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.1833G>C	1.37:g.231057232C>G	ENSP00000355621:p.Met611Ile					TTC13_uc009xfi.2_Missense_Mutation_p.M558I|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Missense_Mutation_p.M558I|TTC13_uc009xfk.1_Missense_Mutation_p.M501I	p.M611I	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	16	1864	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	611					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.1833G>C	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	7.589	0.670440	0.14776	.	.	ENSG00000143643	ENST00000366661;ENST00000366662;ENST00000414259;ENST00000486879	T;T;T	0.39056	1.1;1.12;1.12	5.62	5.62	0.85841	.	0.038085	0.85682	D	0.000000	T	0.20292	0.0488	N	0.01705	-0.755	0.49299	D	0.99977	B;B;B;B	0.11235	0.0;0.004;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.001	T	0.19063	-1.0317	10	0.09590	T	0.72	-19.797	19.6604	0.95864	0.0:1.0:0.0:0.0	.	536;558;558;611	Q69YR0;E9PGV4;Q8NBP0-2;Q8NBP0	.;.;.;TTC13_HUMAN	I	611;558;558;45	ENSP00000355621:M611I;ENSP00000355622:M558I;ENSP00000416631:M558I	ENSP00000355621:M611I	M	-	3	0	TTC13	229123855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.441000	0.44864	2.648000	0.89879	0.655000	0.94253	ATG		0.269	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		3	29	0	0	0	0	3	29				
OR1C1	26188	broad.mit.edu	37	1	247921358	247921358	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:247921358C>A	ENST00000408896.2	-	1	624	c.351G>T	c.(349-351)gtG>gtT	p.V117V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	117					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CATACGCCATCACACACAGAA	0.488																																						uc010pza.1		NA																	0				skin(1)	1						c.(349-351)GTG>GTT		olfactory receptor, family 1, subfamily C,							64.0	60.0	61.0					1																	247921358		1992	4167	6159	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921358C>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.351G>T	1.37:g.247921358C>A							p.V117V	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	351	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	117			Helical; Name=3; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.351G>T	CCDS41481.1																																																																																				0.488	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			6	53	1	0	5.94e-07	1.07e-06	6	53				
DNAJC1	64215	broad.mit.edu	37	10	22048479	22048479	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:22048479A>C	ENST00000376980.3	-	11	1506	c.1216T>G	c.(1216-1218)Ttg>Gtg	p.L406V	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	406					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCATCGGGCAAGGTGGTGGCC	0.587																																						uc001irc.2		NA																	0				lung(1)	1						c.(1216-1218)TTG>GTG		DnaJ (Hsp40) homolog, subfamily C, member 1							55.0	49.0	51.0					10																	22048479		2203	4300	6503	SO:0001583	missense	64215				negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding	g.chr10:22048479A>C	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1216T>G	10.37:g.22048479A>C	ENSP00000366179:p.Leu406Val					DNAJC1_uc001ird.2_Missense_Mutation_p.L292V	p.L406V	NM_022365	NP_071760	Q96KC8	DNJC1_HUMAN			11	1503	-		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)	406			Cytoplasmic (By similarity).		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	ENST00000376980.3	37	c.1216T>G	CCDS7136.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.467070	0.26335	.	.	ENSG00000136770	ENST00000376980	T	0.55588	0.51	5.58	-1.63	0.08345	.	0.564296	0.17213	N	0.182640	T	0.27697	0.0681	L	0.38175	1.15	0.80722	D	1	P;B	0.38535	0.635;0.038	B;B	0.29862	0.108;0.018	T	0.37009	-0.9724	10	0.06625	T	0.88	-3.7576	7.4201	0.27067	0.344:0.1404:0.5156:0.0	.	127;406	Q96NY3;Q96KC8	.;DNJC1_HUMAN	V	406	ENSP00000366179:L406V	ENSP00000366179:L406V	L	-	1	2	DNAJC1	22088485	0.001000	0.12720	0.961000	0.40146	0.022000	0.10575	-0.430000	0.06973	0.034000	0.15491	0.402000	0.26972	TTG		0.587	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047149.1	NM_022365		9	51	0	0	0	0	9	51				
MYO3A	53904	broad.mit.edu	37	10	26417382	26417382	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:26417382A>C	ENST00000265944.5	+	20	2343	c.2177A>C	c.(2176-2178)aAa>aCa	p.K726T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	726	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTTCAAAAAAAATTCCTTC	0.338																																						uc001isn.2		NA																	0				ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(2176-2178)AAA>ACA		myosin IIIA							77.0	75.0	76.0					10																	26417382		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26417382A>C	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2177A>C	10.37:g.26417382A>C	ENSP00000265944:p.Lys726Thr					MYO3A_uc009xko.1_Missense_Mutation_p.K726T|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron	p.K726T	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			20	2537	+			726			Myosin head-like.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.2177A>C	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753147	0.49362	.	.	ENSG00000095777	ENST00000265944	D	0.88124	-2.34	5.99	1.07	0.20283	Myosin head, motor domain (3);	0.284805	0.44097	D	0.000484	D	0.87083	0.6089	L	0.39020	1.185	0.80722	D	1	D	0.57257	0.979	D	0.64410	0.925	T	0.83050	-0.0153	10	0.38643	T	0.18	.	9.6794	0.40061	0.7452:0.0:0.2548:0.0	.	726	Q8NEV4	MYO3A_HUMAN	T	726	ENSP00000265944:K726T	ENSP00000265944:K726T	K	+	2	0	MYO3A	26457388	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	1.754000	0.38369	0.148000	0.19059	0.533000	0.62120	AAA		0.338	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	47	0	0	0	0	6	47				
JMJD1C	221037	broad.mit.edu	37	10	64967812	64967812	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:64967812G>A	ENST00000399262.2	-	10	3835	c.3617C>T	c.(3616-3618)gCa>gTa	p.A1206V	JMJD1C_ENST00000542921.1_Missense_Mutation_p.A1024V|JMJD1C_ENST00000399251.1_Missense_Mutation_p.A987V|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A987V	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1206					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AAATACTGGTGCTCTATGTAA	0.438																																						uc001jmn.2		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(3616-3618)GCA>GTA		jumonji domain containing 1C isoform a							142.0	138.0	139.0					10																	64967812		1945	4148	6093	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64967812G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.3617C>T	10.37:g.64967812G>A	ENSP00000382204:p.Ala1206Val					JMJD1C_uc001jml.2_Missense_Mutation_p.A987V|JMJD1C_uc001jmm.2_Missense_Mutation_p.A918V|JMJD1C_uc010qiq.1_Missense_Mutation_p.A1024V|JMJD1C_uc009xpi.2_Missense_Mutation_p.A1024V|JMJD1C_uc009xpj.1_RNA|JMJD1C_uc009xpk.1_Missense_Mutation_p.A243V	p.A1206V	NM_032776	NP_116165	Q15652	JHD2C_HUMAN			10	3917	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1206					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.3617C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760803	0.69763	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000399251;ENST00000542921	T;T;T;T	0.70631	-0.15;-0.5;1.26;-0.14	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82898	0.5137	M	0.64997	1.995	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.79969	-0.1579	10	0.34782	T	0.22	-17.0949	19.8414	0.96690	0.0:0.0:1.0:0.0	.	747;1206;1024	A6PW35;Q15652;A0T124	.;JHD2C_HUMAN;.	V	1206;987;987;1024	ENSP00000382204:A1206V;ENSP00000384990:A987V;ENSP00000382195:A987V;ENSP00000444682:A1024V	ENSP00000382195:A987V	A	-	2	0	JMJD1C	64637818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.680000	0.91292	0.563000	0.77884	GCA		0.438	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		21	99	0	0	0	0	21	99				
MICU1	10367	broad.mit.edu	37	10	74322720	74322720	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:74322720T>G	ENST00000361114.5	-	3	359	c.263A>C	c.(262-264)aAg>aCg	p.K88T	MICU1_ENST00000604025.1_5'UTR|MICU1_ENST00000401998.3_Missense_Mutation_p.K88T|MICU1_ENST00000398761.4_Missense_Mutation_p.K88T	NM_001195518.1|NM_006077.3	NP_001182447.1|NP_006068.2	Q9BPX6	MICU1_HUMAN	mitochondrial calcium uptake 1	88					calcium ion import (GO:0070509)|calcium ion transmembrane import into mitochondrion (GO:0036444)|defense response (GO:0006952)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein homooligomerization (GO:0051260)	calcium channel complex (GO:0034704)|integral component of mitochondrial membrane (GO:0032592)|intracellular (GO:0005622)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										ATCTGCAGTCTTTTTCTCATG	0.403																																						uc001jtb.1		NA																	0				ovary(1)	1						c.(262-264)AAG>ACG		calcium binding atopy-related autoantigen 1							197.0	168.0	177.0					10																	74322720		1856	4095	5951	SO:0001583	missense	10367				calcium ion import|defense response|elevation of mitochondrial calcium ion concentration	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	g.chr10:74322720T>G	Y17711	CCDS55714.1, CCDS55715.1	10q22.1	2013-01-10	2011-06-23	2011-06-23	ENSG00000107745	ENSG00000107745		"""EF-hand domain containing"""	1530	protein-coding gene	gene with protein product		605084	"""calcium binding atopy-related autoantigen 1"""	CBARA1		9806765, 20693986	Standard	NM_006077		Approved	CALC, EFHA3, FLJ12684	uc001jtb.2	Q9BPX6	OTTHUMG00000018437	ENST00000361114.5:c.263A>C	10.37:g.74322720T>G	ENSP00000354415:p.Lys88Thr						p.K88T	NM_006077	NP_006068	Q9BPX6	MICU1_HUMAN			3	396	-			88					A8MV96|B3KN20|B4DJH9|B4DPI1|B5MBY3|D3YTJ3|O75785|Q9H9N6|Q9UFX0	Missense_Mutation	SNP	ENST00000361114.5	37	c.263A>C	CCDS55715.1	.	.	.	.	.	.	.	.	.	.	T	11.30	1.598774	0.28445	.	.	ENSG00000107745	ENST00000361114;ENST00000398761;ENST00000401998	T;T;T	0.42131	0.98;0.98;0.98	5.5	1.68	0.24146	.	0.916272	0.09527	N	0.790073	T	0.18882	0.0453	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18587	-1.0332	10	0.14656	T	0.56	.	4.0725	0.09889	0.0:0.2808:0.1769:0.5422	.	88	Q9BPX6	MICU1_HUMAN	T	88	ENSP00000354415:K88T;ENSP00000381745:K88T;ENSP00000384068:K88T	ENSP00000354415:K88T	K	-	2	0	MICU1	73992726	0.304000	0.24472	0.941000	0.38009	0.477000	0.33069	0.163000	0.16520	0.482000	0.27582	0.460000	0.39030	AAG		0.403	MICU1-002	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048586.1	NM_006077		3	24	0	0	0	0	3	24				
STAMBPL1	57559	broad.mit.edu	37	10	90665380	90665380	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:90665380T>A	ENST00000371926.3	+	3	1169	c.211T>A	c.(211-213)Ttg>Atg	p.L71M	STAMBPL1_ENST00000371927.3_Missense_Mutation_p.L71M|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.L71M	NM_020799.3	NP_065850.1	Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	71						membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAGGAAATTTGGAAAATGC	0.338																																						uc001kfk.2		NA																	0				ovary(1)	1						c.(211-213)TTG>ATG		STAM binding protein-like 1							116.0	110.0	112.0					10																	90665380		2203	4300	6503	SO:0001583	missense	57559						metal ion binding|metallopeptidase activity|protein binding	g.chr10:90665380T>A	AB037794	CCDS7391.1	10q23.32	2006-11-08			ENSG00000138134	ENSG00000138134			24105	protein-coding gene	gene with protein product	"""associated molecule with the SH3 domain of STAM (AMSH) like protein"", ""associated molecule with the SH3 domain of STAM (AMSH) - Family Protein"""	612352				12810066, 12943674	Standard	NM_020799		Approved	AMSH-LP, KIAA1373, AMSH-FP, FLJ31524, ALMalpha, bA399O19.2	uc001kfk.4	Q96FJ0	OTTHUMG00000018702	ENST00000371926.3:c.211T>A	10.37:g.90665380T>A	ENSP00000360994:p.Leu71Met					STAMBPL1_uc010qmx.1_Missense_Mutation_p.L71M|STAMBPL1_uc009xto.2_RNA|STAMBPL1_uc001kfl.2_Missense_Mutation_p.L71M|STAMBPL1_uc001kfm.2_5'Flank	p.L71M	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)	3	634	+		Colorectal(252;0.0381)	71					B3KPA7|Q5T9N4|Q5T9N9|Q7Z420|Q9P2H4	Missense_Mutation	SNP	ENST00000371926.3	37	c.211T>A	CCDS7391.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119107	0.37436	.	.	ENSG00000138134	ENST00000371926;ENST00000371927;ENST00000371924	T;T;T	0.26660	1.74;1.72;1.74	5.24	-4.06	0.03986	.	0.000000	0.64402	D	0.000001	T	0.38188	0.1031	M	0.63843	1.955	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.85130	0.96;0.997	T	0.19943	-1.0290	10	0.41790	T	0.15	-2.3653	9.2865	0.37760	0.1398:0.6059:0.0:0.2543	.	71;71	Q96FJ0-2;Q96FJ0	.;STALP_HUMAN	M	71	ENSP00000360994:L71M;ENSP00000360995:L71M;ENSP00000360992:L71M	ENSP00000360992:L71M	L	+	1	2	STAMBPL1	90655360	0.997000	0.39634	0.395000	0.26283	0.075000	0.17131	0.481000	0.22260	-0.626000	0.05596	-0.333000	0.08304	TTG		0.338	STAMBPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049283.1	NM_020799		9	43	0	0	0	0	9	43				
LIPA	3988	broad.mit.edu	37	10	91005441	91005441	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:91005441G>C	ENST00000336233.5	-	3	543	c.221C>G	c.(220-222)tCt>tGt	p.S74C	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000456827.1_Missense_Mutation_p.S74C			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	74					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	lipase activity (GO:0016298)|sterol esterase activity (GO:0004771)			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		ACCTTTGTCAGAATGGTTCTT	0.383																																						uc001kga.3		NA																	0					0						c.(220-222)TCT>TGT		lipase A precursor							83.0	89.0	87.0					10																	91005441		2203	4300	6503	SO:0001583	missense	3988				lipid catabolic process	lysosome	lipase activity|sterol esterase activity	g.chr10:91005441G>C	M74775	CCDS7401.1, CCDS73160.1	10q23.2-q23.3	2012-07-13	2008-08-01		ENSG00000107798	ENSG00000107798	3.1.1.13		6617	protein-coding gene	gene with protein product	"""Wolman disease"""	613497				8432549	Standard	NM_000235		Approved	LAL, CESD	uc009xtq.3	P38571	OTTHUMG00000018716	ENST00000336233.5:c.221C>G	10.37:g.91005441G>C	ENSP00000337354:p.Ser74Cys					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.S74C	p.S74C	NM_000235	NP_000226	P38571	LICH_HUMAN		GBM - Glioblastoma multiforme(2;0.00406)	3	389	-		Colorectal(252;0.0162)	74					B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0	Missense_Mutation	SNP	ENST00000336233.5	37	c.221C>G	CCDS7401.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715546	0.48622	.	.	ENSG00000107798	ENST00000336233;ENST00000371829;ENST00000541980;ENST00000456827;ENST00000542307;ENST00000428800;ENST00000282673	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.6	0.261	0.15592	Partial AB-hydrolase lipase domain (1);	.	.	.	.	T	0.79873	0.4521	L	0.45137	1.4	0.09310	N	1	B	0.18741	0.03	B	0.23852	0.049	T	0.68387	-0.5422	9	0.52906	T	0.07	-4.4976	4.0949	0.09986	0.3803:0.1702:0.4495:0.0	.	74	P38571	LICH_HUMAN	C	74	ENSP00000337354:S74C;ENSP00000413019:S74C;ENSP00000388415:S74C;ENSP00000282673:S74C	ENSP00000282673:S74C	S	-	2	0	LIPA	90995421	0.000000	0.05858	0.054000	0.19295	0.995000	0.86356	-0.053000	0.11846	0.396000	0.25283	0.655000	0.94253	TCT		0.383	LIPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049308.1	NM_000235		11	91	0	0	0	0	11	91				
ZNF518A	9849	broad.mit.edu	37	10	97917735	97917735	+	RNA	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:97917735T>C	ENST00000534948.1	+	0	2513							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						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)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GTGTATCTTCTTTGTCAGCAA	0.338																																						uc001klp.2		NA																	0				ovary(1)	1						c.(1654-1656)TCT>TCC		zinc finger protein 518							72.0	73.0	73.0					10																	97917735		1883	4120	6003			9849				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:97917735T>C	AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97917735T>C						ZNF518A_uc001klo.1_Silent_p.S22S|ZNF518A_uc001klq.2_Silent_p.S552S|ZNF518A_uc001klr.2_Silent_p.S552S	p.S552S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)	6	2513	+		Colorectal(252;0.0815)	552					A0PJI5|O15044|Q32MP4	Silent	SNP	ENST00000534948.1	37	c.1656T>C																																																																																					0.338	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014803		7	72	0	0	0	0	7	72				
PDCD11	22984	broad.mit.edu	37	10	105205279	105205279	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:105205279G>A	ENST00000369797.3	+	36	5683	c.5589G>A	c.(5587-5589)gaG>gaA	p.E1863E		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1863					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTATGTGGAGGCCAAGAGCT	0.597																																						uc001kwy.1		NA																	0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(5587-5589)GAG>GAA		programmed cell death 11							95.0	80.0	85.0					10																	105205279		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105205279G>A	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5589G>A	10.37:g.105205279G>A							p.E1863E	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	36	5676	+		Colorectal(252;0.0747)|Breast(234;0.128)	1863					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.5589G>A	CCDS31276.1																																																																																				0.597	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			7	51	0	0	0	0	7	51				
CPXM2	119587	broad.mit.edu	37	10	125530458	125530458	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:125530458G>A	ENST00000241305.3	-	8	1230	c.1076C>T	c.(1075-1077)tCa>tTa	p.S359L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	359					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		AGGGTGATCTGAGATCTCCAC	0.478																																						uc001lhk.1		NA																	0				ovary(2)	2						c.(1075-1077)TCA>TTA		carboxypeptidase X (M14 family), member 2							238.0	242.0	241.0					10																	125530458		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125530458G>A	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.1076C>T	10.37:g.125530458G>A	ENSP00000241305:p.Ser359Leu					CPXM2_uc001lhj.2_RNA	p.S359L	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	8	1401	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	359					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.1076C>T	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659317	0.67586	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.04406	3.63	4.62	4.62	0.57501	Peptidase M14, carboxypeptidase A (1);	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	H	0.95884	3.735	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.56232	-0.8013	10	0.87932	D	0	-8.3833	17.6663	0.88203	0.0:0.0:1.0:0.0	.	359	Q8N436	CPXM2_HUMAN	L	359;192;359	ENSP00000241305:S359L	ENSP00000241305:S359L	S	-	2	0	CPXM2	125520448	1.000000	0.71417	0.889000	0.34880	0.129000	0.20672	9.648000	0.98483	2.378000	0.81104	0.591000	0.81541	TCA		0.478	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148		38	258	0	0	0	0	38	258				
GPR123	84435	broad.mit.edu	37	10	134942326	134942326	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:134942326G>A	ENST00000392607.3	+	7	1430	c.994G>A	c.(994-996)Gac>Aac	p.D332N	GPR123_ENST00000607359.1_Missense_Mutation_p.D1051N|GPR123_ENST00000392606.2_Missense_Mutation_p.D235N	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	332					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CCCCGCACTTGACGCCAACGG	0.731																																						uc001llx.3		NA																	0					0						c.(994-996)GAC>AAC		G protein-coupled receptor 123							14.0	14.0	14.0					10																	134942326		2114	4162	6276	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134942326G>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.994G>A	10.37:g.134942326G>A	ENSP00000376384:p.Asp332Asn					GPR123_uc001llw.2_Missense_Mutation_p.D1051N	p.D332N	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	7	1430	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	332			Cytoplasmic (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.994G>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	.	0.018	-1.467261	0.01053	.	.	ENSG00000197177	ENST00000368577;ENST00000392607;ENST00000392606	T	0.03607	3.87	4.38	0.179	0.15063	.	3.216940	0.01801	N	0.032909	T	0.04679	0.0127	L	0.39898	1.24	0.09310	N	1	B;B	0.24882	0.001;0.113	B;B	0.20955	0.001;0.032	T	0.41124	-0.9526	10	0.48119	T	0.1	-23.493	6.2693	0.20945	0.1529:0.5357:0.3113:0.0	.	332;1051	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	N	1051;332;236	ENSP00000376384:D332N	ENSP00000357566:D1051N	D	+	1	0	GPR123	134792316	0.009000	0.17119	0.001000	0.08648	0.000000	0.00434	1.419000	0.34793	0.167000	0.19631	-0.264000	0.10439	GAC		0.731	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2			8	37	0	0	0	0	8	37				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:534288C>T	ENST00000451590.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000417302.1_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		309	Substitution - Missense(309)	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)GGC>GAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>A	11.37:g.534288C>T	ENSP00000407586:p.Gly12Asp	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	p.G12D	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	223	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989265	0.53934	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92412	3.305	0.80722	D	1	P;P	0.35628	0.458;0.513	B;B	0.42827	0.278;0.399	D	0.89215	0.3567	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	D	12	ENSP00000380722:G12D;ENSP00000380723:G12D;ENSP00000407586:G12D;ENSP00000388246:G12D;ENSP00000309845:G12D	ENSP00000309845:G12D	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		5	40	0	0	0	0	5	40				
OR51A2	401667	broad.mit.edu	37	11	4976514	4976514	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:4976514C>T	ENST00000380371.1	-	1	429	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTATTTGGGCAACTCTGACA	0.423																																						uc010qyt.1		NA																	0					0						c.(430-432)GCC>ACC		olfactory receptor, family 51, subfamily A,							111.0	83.0	93.0					11																	4976514		2037	3775	5812	SO:0001583	missense	401667				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4976514C>T	AB065797	CCDS31368.1	11p15.4	2012-08-09			ENSG00000205496	ENSG00000205496		"""GPCR / Class A : Olfactory receptors"""	14764	protein-coding gene	gene with protein product							Standard	NM_001004748		Approved		uc010qyt.2	Q8NGJ7	OTTHUMG00000066602	ENST00000380371.1:c.430G>A	11.37:g.4976514C>T	ENSP00000369729:p.Ala144Thr						p.A144T	NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	430	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	144			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000380371.1	37	c.430G>A	CCDS31368.1	.	.	.	.	.	.	.	.	.	.	-	9.509	1.105347	0.20632	.	.	ENSG00000205496	ENST00000380371	T	0.37752	1.18	3.13	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.23054	0.0557	L	0.43598	1.365	0.09310	N	1	B	0.19583	0.037	B	0.24006	0.05	T	0.28996	-1.0026	9	0.28530	T	0.3	.	3.2793	0.06909	0.4379:0.2384:0.0:0.3237	.	144	Q8NGJ7	O51A2_HUMAN	T	144	ENSP00000369729:A144T	ENSP00000369729:A144T	A	-	1	0	OR51A2	4933090	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-6.391000	0.00068	-1.068000	0.03156	0.395000	0.25975	GCC		0.423	OR51A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142809.1	NM_001004748		34	121	0	0	0	0	34	121				
OR8J3	81168	broad.mit.edu	37	11	55904603	55904603	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:55904603T>C	ENST00000301529.1	-	1	591	c.592A>G	c.(592-594)Ata>Gta	p.I198V		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	198						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(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATAAAGACTATTGTTTCTGGT	0.318																																						uc010riz.1		NA																	0				skin(2)	2						c.(592-594)ATA>GTA		olfactory receptor, family 8, subfamily J,							110.0	113.0	112.0					11																	55904603		2201	4296	6497	SO:0001583	missense	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904603T>C		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.592A>G	11.37:g.55904603T>C	ENSP00000301529:p.Ile198Val						p.I198V	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	592	-	Esophageal squamous(21;0.00693)		198			Helical; Name=5; (Potential).		Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	c.592A>G	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	0.012	-1.657534	0.00779	.	.	ENSG00000167822	ENST00000301529	T	0.36520	1.25	3.27	-6.55	0.01854	GPCR, rhodopsin-like superfamily (1);	0.849998	0.10375	N	0.682304	T	0.09598	0.0236	N	0.04705	-0.18	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32402	-0.9908	10	0.02654	T	1	.	1.6461	0.02762	0.1989:0.3116:0.3232:0.1663	.	198	Q8NGG0	OR8J3_HUMAN	V	198	ENSP00000301529:I198V	ENSP00000301529:I198V	I	-	1	0	OR8J3	55661179	0.000000	0.05858	0.000000	0.03702	0.089000	0.18198	-5.259000	0.00137	-1.131000	0.02910	-0.781000	0.03364	ATA		0.318	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		12	81	0	0	0	0	12	81				
OR8H1	219469	broad.mit.edu	37	11	56058468	56058468	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:56058468T>G	ENST00000313022.2	-	1	98	c.71A>C	c.(70-72)cAg>cCg	p.Q24P		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	24						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)					GAGGGCCATCTGGACCTCTTC	0.423																																						uc010rje.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(70-72)CAG>CCG		olfactory receptor, family 8, subfamily H,							119.0	115.0	116.0					11																	56058468		2201	4296	6497	SO:0001583	missense	219469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56058468T>G	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.71A>C	11.37:g.56058468T>G	ENSP00000323595:p.Gln24Pro						p.Q24P	NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN			1	71	-	Esophageal squamous(21;0.00448)		24			Extracellular (Potential).		B2RNI7|Q6IFC5	Missense_Mutation	SNP	ENST00000313022.2	37	c.71A>C	CCDS31526.1	.	.	.	.	.	.	.	.	.	.	T	11.95	1.790601	0.31685	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00601	6.29	3.98	-3.46	0.04767	.	1.716250	0.03340	N	0.194659	T	0.02047	0.0064	M	0.78801	2.425	0.09310	N	1	P	0.43909	0.821	P	0.52514	0.701	T	0.35549	-0.9784	10	0.87932	D	0	.	12.8256	0.57718	0.0:0.4336:0.0:0.5664	.	24	Q8NGG4	OR8H1_HUMAN	P	24;20	ENSP00000323595:Q24P	ENSP00000323595:Q24P	Q	-	2	0	OR8H1	55815044	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.227000	0.09126	-1.250000	0.02497	-1.506000	0.00953	CAG		0.423	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199		8	96	0	0	0	0	8	96				
ATM	472	broad.mit.edu	37	11	108121428	108121428	+	Splice_Site	SNP	G	G	C	rs79220522		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:108121428G>C	ENST00000452508.2	+	11	1425	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	ATM_ENST00000278616.4_Splice_Site_p.W412C			Q13315	ATM_HUMAN	ATM serine/threonine kinase	412					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTTTTTTTAGGCTACAGATTG	0.318			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												uc001pkb.1		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	D|Mis|N|F|S	ataxia telangiectasia mutated			"""L, O"""		leukemia|lymphoma|medulloblastoma|glioma	T-PLL		0				haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1)	240						c.(1234-1236)TGG>TGC	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							48.0	49.0	49.0					11																	108121428		2201	4298	6499	SO:0001630	splice_region_variant	472	Ataxia_Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108121428G>C	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.1236-1G>C	11.37:g.108121428G>C		TSP Lung(14;0.12)				ATM_uc009yxr.1_Missense_Mutation_p.W412C	p.W412C	NM_000051	NP_000042	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	10	1621	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	412					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.1236G>C	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796469	0.70567	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.03330	3.97;4.23;4.23	5.79	5.79	0.91817	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.18215	0.0437	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	T	0.00043	-1.2226	9	.	.	.	.	20.0155	0.97477	0.0:0.0:1.0:0.0	.	412	Q13315	ATM_HUMAN	C	412	ENSP00000435747:W412C;ENSP00000278616:W412C;ENSP00000388058:W412C	.	W	+	3	0	ATM	107626638	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	9.313000	0.96297	2.742000	0.94016	0.591000	0.81541	TGG		0.318	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Missense_Mutation	6	32	0	0	0	0	6	32				
IGSF9B	22997	broad.mit.edu	37	11	133791272	133791272	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr11:133791272C>T	ENST00000321016.8	-	18	2578	c.2348G>A	c.(2347-2349)aGc>aAc	p.S783N	IGSF9B_ENST00000533871.2_Missense_Mutation_p.S783N			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	783					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCTCTCGGGGCTCACCTTGCC	0.662																																						uc001qgx.3		NA																	0					0						c.(2347-2349)AGC>AAC		immunoglobulin superfamily, member 9B							10.0	10.0	10.0					11																	133791272		2058	4165	6223	SO:0001583	missense	22997					integral to membrane|plasma membrane		g.chr11:133791272C>T	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2348G>A	11.37:g.133791272C>T	ENSP00000317980:p.Ser783Asn						p.S783N	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)	18	2579	-	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	783			Cytoplasmic (Potential).		G5EA26	Missense_Mutation	SNP	ENST00000321016.8	37	c.2348G>A		.	.	.	.	.	.	.	.	.	.	C	22.6	4.305460	0.81247	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.73258	-0.42;-0.73	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000059	T	0.81442	0.4823	M	0.66939	2.045	0.47994	D	0.999568	D	0.69078	0.997	D	0.63793	0.918	T	0.82514	-0.0419	10	0.49607	T	0.09	.	17.2629	0.87075	0.0:1.0:0.0:0.0	.	783	Q9UPX0	TUTLB_HUMAN	N	783;625	ENSP00000317980:S783N;ENSP00000436552:S625N	ENSP00000317980:S783N	S	-	2	0	IGSF9B	133296482	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.240000	0.78192	2.397000	0.81536	0.561000	0.74099	AGC		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_290502		3	15	0	0	0	0	3	15				
DCP1B	196513	broad.mit.edu	37	12	2061959	2061959	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:2061959T>G	ENST00000280665.6	-	7	1226	c.1147A>C	c.(1147-1149)Aac>Cac	p.N383H	DCP1B_ENST00000397173.4_Missense_Mutation_p.N281H|DCP1B_ENST00000540622.1_Missense_Mutation_p.N257H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	383					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			CTGCTGCGGTTCAGGGCAGCT	0.572																																						uc001qjx.1		NA																	0				skin(1)	1						c.(1147-1149)AAC>CAC		decapping enzyme Dcp1b							68.0	73.0	71.0					12																	2061959		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2061959T>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.1147A>C	12.37:g.2061959T>G	ENSP00000280665:p.Asn383His					DCP1B_uc010sdy.1_Missense_Mutation_p.N281H	p.N383H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	1227	-			383					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.1147A>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	T	8.869	0.948756	0.18356	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.17370	2.29;2.29;2.28	3.68	0.625	0.17665	.	1.795260	0.02860	N	0.130178	T	0.12092	0.0294	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.24190	-1.0167	10	0.15499	T	0.54	-0.1128	4.4061	0.11409	0.0:0.465:0.2093:0.3258	.	281;383	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	383;281;257	ENSP00000280665:N383H;ENSP00000380358:N281H;ENSP00000444374:N257H	ENSP00000280665:N383H	N	-	1	0	DCP1B	1932220	0.000000	0.05858	0.000000	0.03702	0.954000	0.61252	-0.610000	0.05629	-0.079000	0.12707	0.383000	0.25322	AAC		0.572	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		19	67	0	0	0	0	19	67				
RAD51AP1	10635	broad.mit.edu	37	12	4668097	4668097	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:4668097C>T	ENST00000352618.4	+	9	996	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	RAD51AP1_ENST00000228843.9_Missense_Mutation_p.R333C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.R214C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.R283C|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000544927.1_3'UTR	NM_006479.4	NP_006470.1			RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGAGTCTCCGCCTTGGCTT	0.498																																						uc001qmw.2		NA																	0					0						c.(997-999)CGC>TGC		RAD51 associated protein 1 isoform a							143.0	124.0	131.0					12																	4668097		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4668097C>T	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000352618.4:c.946C>T	12.37:g.4668097C>T	ENSP00000309479:p.Arg316Cys					RAD51AP1_uc001qmu.2_Missense_Mutation_p.R316C|RAD51AP1_uc001qmv.2_Missense_Mutation_p.R279C|RAD51AP1_uc010sep.1_Missense_Mutation_p.R214C|RAD51AP1_uc010seq.1_Missense_Mutation_p.R214C|RAD51AP1_uc009zeg.2_RNA	p.R333C	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		10	1153	+			333	R->A: Strongly decreases interaction with RAD51; when associated with Q-336; A-345 and A-346.		Interaction with RAD51.			Missense_Mutation	SNP	ENST00000352618.4	37	c.997C>T	CCDS8529.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069559	0.55539	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000001	T	0.63307	0.2500	M	0.64567	1.98	0.58432	D	0.999998	B;D;D;B	0.76494	0.108;0.999;0.999;0.178	B;P;P;B	0.57911	0.023;0.829;0.829;0.029	T	0.67734	-0.5594	10	0.87932	D	0	-1.9001	12.1757	0.54184	0.0:1.0:0.0:0.0	.	214;333;333;316	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	C	283;214;333;316	ENSP00000323750:R283C;ENSP00000439960:R214C;ENSP00000228843:R333C;ENSP00000309479:R316C	ENSP00000228843:R333C	R	+	1	0	RAD51AP1	4538358	0.998000	0.40836	1.000000	0.80357	0.969000	0.65631	1.711000	0.37930	2.229000	0.72834	0.655000	0.94253	CGC		0.498	RAD51AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398293.1	NM_006479		8	89	0	0	0	0	8	89				
CD163	9332	broad.mit.edu	37	12	7639106	7639106	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:7639106A>C	ENST00000359156.4	-	10	2649	c.2447T>G	c.(2446-2448)gTt>gGt	p.V816G	CD163_ENST00000396620.3_Missense_Mutation_p.V849G|CD163_ENST00000432237.2_Missense_Mutation_p.V816G|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Missense_Mutation_p.V804G	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	816	SRCR 7. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGAGCAGATAACTCCCGCATC	0.443																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(2446-2448)GTT>GGT		CD163 antigen isoform a							83.0	85.0	84.0					12																	7639106		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639106A>C	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2447T>G	12.37:g.7639106A>C	ENSP00000352071:p.Val816Gly					CD163_uc001qta.3_Missense_Mutation_p.V816G|CD163_uc009zfw.2_Missense_Mutation_p.V849G	p.V816G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			10	2575	-			816			SRCR 7.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.2447T>G	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.731290	0.69189	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.54	3.19	0.36642	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.262302	0.32258	N	0.006354	T	0.79411	0.4441	H	0.99011	4.4	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;P	0.63877	0.919;0.909;0.88	T	0.82360	-0.0496	10	0.87932	D	0	.	8.0321	0.30472	0.8324:0.0:0.1676:0.0	.	849;816;816	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	G	816;804;849;816	ENSP00000352071:V816G;ENSP00000444071:V804G;ENSP00000379863:V849G;ENSP00000403885:V816G	ENSP00000352071:V816G	V	-	2	0	CD163	7530373	1.000000	0.71417	0.855000	0.33649	0.919000	0.55068	5.320000	0.65841	1.045000	0.40225	0.528000	0.53228	GTT		0.443	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		4	130	0	0	0	0	4	130				
ARID2	196528	broad.mit.edu	37	12	46233280	46233280	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46233280G>A	ENST00000334344.6	+	11	1670		c.e11+1		ARID2_ENST00000479608.1_Splice_Site|ARID2_ENST00000422737.1_Splice_Site|ARID2_ENST00000444670.1_Splice_Site	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGCCCCAGGTTAGTGTTTT	0.373			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.e11+1		AT rich interactive domain 2 (ARID, RFX-like)							166.0	151.0	156.0					12																	46233280		2203	4300	6503	SO:0001630	splice_region_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46233280G>A		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.1498+1G>A	12.37:g.46233280G>A						ARID2_uc001ror.2_Splice_Site_p.A500_splice|ARID2_uc009zkg.1_Splice_Site|ARID2_uc009zkh.1_Splice_Site_p.A127_splice|ARID2_uc001rot.1_Missense_Mutation_p.G146D	p.A500_splice	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	11	1498	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)						Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Splice_Site	SNP	ENST00000334344.6	37	c.1498_splice	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312697	0.81358	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0739	0.93151	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARID2	44519547	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.280000	0.89903	2.584000	0.87258	0.655000	0.94253	.		0.373	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875	Intron	14	77	0	0	0	0	14	77				
ARID2	196528	broad.mit.edu	37	12	46285669	46285669	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:46285669C>T	ENST00000334344.6	+	17	5201	c.5029C>T	c.(5029-5031)Cga>Tga	p.R1677*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1528*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.R285*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1287*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1677					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|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)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCTTTTCAGCGACAGCGGTT	0.413			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(5029-5031)CGA>TGA		AT rich interactive domain 2 (ARID, RFX-like)							169.0	169.0	169.0					12																	46285669		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46285669C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5029C>T	12.37:g.46285669C>T	ENSP00000335044:p.Arg1677*					ARID2_uc001ror.2_Nonsense_Mutation_p.R1677*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R1133*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R1304*|ARID2_uc001rou.1_Nonsense_Mutation_p.R1011*	p.R1677*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	17	5029	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1677					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.5029C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	46	12.754685	0.99693	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	.	.	.	5.42	4.52	0.55395	.	0.129869	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.163	16.4248	0.83810	0.0:0.8682:0.1318:0.0	.	.	.	.	X	1677;794;794;1528;1287;285	.	ENSP00000335044:R1677X	R	+	1	2	ARID2	44571936	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.738000	0.47401	1.388000	0.46506	0.655000	0.94253	CGA		0.413	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	92	0	0	0	0	9	92				
POU6F1	5463	broad.mit.edu	37	12	51584078	51584078	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51584078G>A	ENST00000389243.4	-	11	1797	c.858C>T	c.(856-858)cgC>cgT	p.R286R	POU6F1_ENST00000333640.10_Silent_p.R286R|POU6F1_ENST00000550824.1_Silent_p.R286R			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	286					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						TGAGCGTCTGGCGCCGATTGC	0.552																																						uc001rxy.2		NA																	0				ovary(1)	1						c.(856-858)CGC>CGT		POU class 6 homeobox 1							98.0	85.0	89.0					12																	51584078		2203	4300	6503	SO:0001819	synonymous_variant	5463				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr12:51584078G>A	AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.858C>T	12.37:g.51584078G>A						POU6F1_uc001rxz.2_Silent_p.R286R|POU6F1_uc001rya.2_Silent_p.R286R	p.R286R	NM_002702	NP_002693	Q14863	PO6F1_HUMAN			5	1050	-			286			Homeobox.		Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	c.858C>T	CCDS31803.1																																																																																				0.552	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702		11	71	0	0	0	0	11	71				
GALNT6	11226	broad.mit.edu	37	12	51752036	51752036	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:51752036C>A	ENST00000543196.2	-	8	1583	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C	GALNT6_ENST00000356317.3_Missense_Mutation_p.G460C			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	460					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GAAATGTCACCGAAGGATTTC	0.473																																						uc001ryk.2		NA																	0				ovary(2)	2						c.(1378-1380)GGT>TGT		polypeptide N-acetylgalactosaminyltransferase 6							193.0	166.0	175.0					12																	51752036		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51752036C>A	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1378G>T	12.37:g.51752036C>A	ENSP00000444171:p.Gly460Cys					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G460C|GALNT6_uc001ryj.1_Missense_Mutation_p.G25C	p.G460C	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			8	1603	-			460			Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1378G>T	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	c	22.5	4.302101	0.81136	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.67345	-0.26;-0.26	3.95	3.95	0.45737	.	0.258784	0.44285	D	0.000477	D	0.88596	0.6479	H	0.98426	4.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92983	0.6408	10	0.87932	D	0	.	15.9806	0.80105	0.0:1.0:0.0:0.0	.	460	Q8NCL4	GALT6_HUMAN	C	460;460;441	ENSP00000444171:G460C;ENSP00000348668:G460C	ENSP00000348668:G460C	G	-	1	0	GALNT6	50038303	1.000000	0.71417	0.725000	0.30721	0.982000	0.71751	5.762000	0.68809	2.487000	0.83934	0.457000	0.33378	GGT		0.473	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		10	89	1	0	2.81e-09	5.09e-09	10	89				
KRT83	3889	broad.mit.edu	37	12	52709762	52709762	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:52709762C>T	ENST00000293670.3	-	7	1239	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	AC121757.1_ENST00000594763.1_Intron	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	393	Coil 2.|Rod.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCTGGTACTCCCTGATCAGG	0.647																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	uc001saf.2		NA																	0				skin(1)	1						c.(1177-1179)GAG>AAG		keratin 83							97.0	85.0	89.0					12																	52709762		2203	4300	6503	SO:0001583	missense	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52709762C>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1177G>A	12.37:g.52709762C>T	ENSP00000293670:p.Glu393Lys						p.E393K	NM_002282	NP_002273	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1240	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		393			Rod.|Coil 2.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	c.1177G>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.815874	0.90790	.	.	ENSG00000170523	ENST00000293670	D	0.93712	-3.27	3.72	3.72	0.42706	Filament (1);	0.000000	0.42420	U	0.000707	D	0.96731	0.8933	M	0.90542	3.125	0.42544	D	0.993083	P	0.45240	0.854	P	0.59012	0.85	D	0.97628	1.0140	9	.	.	.	.	15.8481	0.78907	0.0:1.0:0.0:0.0	.	393	P78385	KRT83_HUMAN	K	393	ENSP00000293670:E393K	.	E	-	1	0	KRT83	50996029	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.806000	0.62569	1.800000	0.52685	0.467000	0.42956	GAG		0.647	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		9	123	0	0	0	0	9	123				
KCNC2	3747	broad.mit.edu	37	12	75601707	75601707	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:75601707G>A	ENST00000549446.1	-	2	737	c.57C>T	c.(55-57)caC>caT	p.H19H	KCNC2_ENST00000393288.2_Silent_p.H19H|KCNC2_ENST00000548513.1_Silent_p.H19H|KCNC2_ENST00000550433.1_Silent_p.H19H|KCNC2_ENST00000341669.3_Silent_p.H19H|KCNC2_ENST00000350228.2_Silent_p.H19H|KCNC2_ENST00000540018.1_Silent_p.H19H|KCNC2_ENST00000298972.1_Silent_p.H19H	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	19					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	GGTAGGTTTCGTGCCGGGTGC	0.632																																						uc001sxg.1		NA																	0				breast(2)|pancreas(2)|skin(1)|lung(1)	6						c.(55-57)CAC>CAT		Shaw-related voltage-gated potassium channel							51.0	43.0	46.0					12																	75601707		1972	3895	5867	SO:0001819	synonymous_variant	3747				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:75601707G>A	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.57C>T	12.37:g.75601707G>A						KCNC2_uc009zry.2_Silent_p.H19H|KCNC2_uc001sxe.2_Silent_p.H19H|KCNC2_uc001sxf.2_Silent_p.H19H|KCNC2_uc010stw.1_Silent_p.H19H	p.H19H	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN			2	601	-			19			Cytoplasmic (Potential).		B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	c.57C>T	CCDS9007.1																																																																																				0.632	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748		5	65	0	0	0	0	5	65				
MYBPC1	4604	broad.mit.edu	37	12	102064158	102064158	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:102064158G>A	ENST00000550270.1	+	23	2563	c.2563G>A	c.(2563-2565)Gaa>Aaa	p.E855K	MYBPC1_ENST00000547509.1_Missense_Mutation_p.E823K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000549145.1_Missense_Mutation_p.E868K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E855K|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E837K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E855K|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E818K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E811K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E825K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E862K|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E738K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E837K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E824K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	855	Ig-like C2-type 6.			EAVN -> DRVI (in Ref. 1; CAA46987). {ECO:0000305}.	cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CAGAGTTGGAGAAGCTGTCAA	0.443																																						uc001tii.2		NA																	0				ovary(2)|liver(1)|skin(1)	4						c.(2563-2565)GAA>AAA		myosin binding protein C, slow type isoform 3							180.0	179.0	180.0					12																	102064158		2203	4300	6503	SO:0001583	missense	4604				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding	g.chr12:102064158G>A		CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2563G>A	12.37:g.102064158G>A	ENSP00000449702:p.Glu855Lys					MYBPC1_uc001tig.2_Missense_Mutation_p.E862K|MYBPC1_uc010svq.1_Missense_Mutation_p.E824K|MYBPC1_uc001tih.2_Missense_Mutation_p.E862K|MYBPC1_uc001tij.2_Missense_Mutation_p.E837K|MYBPC1_uc010svr.1_Missense_Mutation_p.E837K|MYBPC1_uc010svs.1_Missense_Mutation_p.E855K|MYBPC1_uc010svt.1_Missense_Mutation_p.E825K|MYBPC1_uc010svu.1_Missense_Mutation_p.E818K|MYBPC1_uc001tik.2_Missense_Mutation_p.E811K|MYBPC1_uc001til.2_5'UTR|MYBPC1_uc001tim.2_5'UTR	p.E855K	NM_206820	NP_996556	Q00872	MYPC1_HUMAN			23	2665	+			855	EAVN -> DRVI (in Ref. 1; CAA46987).		Ig-like C2-type 6.		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	c.2563G>A	CCDS9085.1	.	.	.	.	.	.	.	.	.	.	G	36	5.780958	0.96929	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85;0.85	5.79	5.79	0.91817	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000059	T	0.73621	0.3610	M	0.82433	2.59	0.80722	D	1	P;D;D;D;D;D;D;D;D;D	0.76494	0.871;0.998;0.996;0.999;0.991;0.997;0.995;0.996;0.997;0.993	D;D;D;D;D;D;D;D;D;D	0.87578	0.911;0.998;0.982;0.993;0.994;0.989;0.995;0.998;0.959;0.975	T	0.76313	-0.3005	10	0.87932	D	0	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	818;825;855;837;824;811;837;855;862;862	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	K	811;855;855;855;824;823;862;868;837;837;818;825;862;738;855	ENSP00000448175:E811K;ENSP00000400908:E855K;ENSP00000388989:E855K;ENSP00000353822:E855K;ENSP00000376665:E824K;ENSP00000447362:E823K;ENSP00000354845:E862K;ENSP00000447660:E868K;ENSP00000447900:E837K;ENSP00000440034:E837K;ENSP00000446128:E818K;ENSP00000442847:E825K;ENSP00000354849:E862K;ENSP00000447116:E738K;ENSP00000449702:E855K	ENSP00000353822:E855K	E	+	1	0	MYBPC1	100588289	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.746000	0.94184	0.655000	0.94253	GAA		0.443	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			15	129	0	0	0	0	15	129				
PAH	5053	broad.mit.edu	37	12	103288646	103288646	+	Silent	SNP	C	C	T	rs199475570		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:103288646C>T	ENST00000553106.1	-	3	691	c.219G>A	c.(217-219)aaG>aaA	p.K73K	PAH_ENST00000307000.2_Silent_p.K68K|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	73	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCATCTTTCTTTAAACGAG	0.443																																						uc001tjq.1		NA																	0				ovary(4)	4						c.(217-219)AAG>AAA		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						143.0	134.0	137.0					12																	103288646		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103288646C>T	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.219G>A	12.37:g.103288646C>T						PAH_uc010swc.1_Silent_p.K73K	p.K73K	NM_000277	NP_000268	P00439	PH4H_HUMAN			4	691	-			73			ACT.		Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.219G>A	CCDS9092.1																																																																																				0.443	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1			14	57	0	0	0	0	14	57				
HECTD4	283450	broad.mit.edu	37	12	112690297	112690297	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr12:112690297C>T	ENST00000430131.2	-	22	3362	c.2217G>A	c.(2215-2217)atG>atA	p.M739I	HECTD4_ENST00000550722.1_Missense_Mutation_p.M1015I|HECTD4_ENST00000377560.5_Missense_Mutation_p.M989I			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	739					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										GGCCACTTCTCATTTCAAAGG	0.438																																						uc009zwc.2		NA																	0				ovary(1)|lung(1)	2						c.(2215-2217)ATG>ATA		chromosome 12 open reading frame 51							120.0	115.0	117.0					12																	112690297		2203	4300	6503	SO:0001583	missense	283450							g.chr12:112690297C>T	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2217G>A	12.37:g.112690297C>T	ENSP00000404379:p.Met739Ile					C12orf51_uc010syk.1_Missense_Mutation_p.M561I|C12orf51_uc001tts.2_Missense_Mutation_p.M552I|C12orf51_uc001ttt.3_Missense_Mutation_p.M550I	p.M739I	NM_001109662	NP_001103132					16	2235	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.2217G>A		.	.	.	.	.	.	.	.	.	.	C	24.8	4.576062	0.86645	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.50277	0.75;0.76;0.81	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	N	0.24115	0.695	0.54753	D	0.999988	P;P;P	0.39044	0.656;0.525;0.656	P;B;P	0.48627	0.584;0.38;0.584	T	0.50600	-0.8809	10	0.62326	D	0.03	.	18.8376	0.92169	0.0:1.0:0.0:0.0	.	739;739;729	Q9Y4D8-2;Q9Y4D8;Q9Y4D8-3	.;K0614_HUMAN;.	I	989;739;1015	ENSP00000366783:M989I;ENSP00000404379:M739I;ENSP00000449784:M1015I	ENSP00000366783:M989I	M	-	3	0	C12orf51	111174680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.461000	0.80834	2.705000	0.92388	0.585000	0.79938	ATG		0.438	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		14	94	0	0	0	0	14	94				
PARP4	143	broad.mit.edu	37	13	25049615	25049615	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25049615C>T	ENST00000381989.3	-	15	2014	c.1909G>A	c.(1909-1911)Gcc>Acc	p.A637T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	637	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CATACCTGGGCTACAGTGTCT	0.458																																						uc001upl.2		NA																	0				ovary(3)|skin(1)	4						c.(1909-1911)GCC>ACC		poly (ADP-ribose) polymerase family, member 4							102.0	100.0	101.0					13																	25049615		2203	4300	6503	SO:0001583	missense	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25049615C>T	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.1909G>A	13.37:g.25049615C>T	ENSP00000371419:p.Ala637Thr					PARP4_uc010tdc.1_Missense_Mutation_p.A637T	p.A637T	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	15	2015	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	637			VIT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	ENST00000381989.3	37	c.1909G>A	CCDS9307.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.516376	0.44763	.	.	ENSG00000102699	ENST00000381989	T	0.38887	1.11	3.9	3.9	0.45041	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.202030	0.41097	U	0.000944	T	0.69922	0.3165	M	0.92026	3.265	0.37740	D	0.925582	D	0.89917	1.0	D	0.91635	0.999	T	0.80542	-0.1336	10	0.87932	D	0	-13.3018	13.5053	0.61481	0.0:1.0:0.0:0.0	.	637	Q9UKK3	PARP4_HUMAN	T	637	ENSP00000371419:A637T	ENSP00000371419:A637T	A	-	1	0	PARP4	23947615	1.000000	0.71417	0.985000	0.45067	0.047000	0.14425	3.847000	0.55895	2.032000	0.59987	0.551000	0.68910	GCC		0.458	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		13	69	0	0	0	0	13	69				
FREM2	341640	broad.mit.edu	37	13	39264178	39264178	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:39264178A>G	ENST00000280481.7	+	1	2913	c.2697A>G	c.(2695-2697)cgA>cgG	p.R899R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	899					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGGGCCGAGTTTCCTATG	0.512																																						uc001uwv.2		NA																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(2695-2697)CGA>CGG		FRAS1-related extracellular matrix protein 2							80.0	64.0	70.0					13																	39264178		2203	4300	6503	SO:0001819	synonymous_variant	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39264178A>G	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2697A>G	13.37:g.39264178A>G							p.R899R	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	3006	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	899			CSPG 5.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	37	c.2697A>G	CCDS31960.1																																																																																				0.512	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	36	0	0	0	0	4	36				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217120	53217120	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:53217120C>G	ENST00000357495.2	+	1	553	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.Q165E|HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.Q165E			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	165	Globular B domain.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						GATTGTCATTCAGAAATACCA	0.468																																						uc001vgx.1		NA																	0					0						c.(493-495)CAG>GAG		heterogeneous nuclear ribonucleoprotein A1-like							47.0	51.0	50.0					13																	53217120		1889	3519	5408	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217120C>G		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.493C>G	13.37:g.53217120C>G	ENSP00000350090:p.Gln165Glu					HNRNPA1L2_uc001vgy.1_Missense_Mutation_p.Q165E|HNRNPA1L2_uc001vgz.1_Missense_Mutation_p.Q165E	p.Q165E	NM_001011724	NP_001011724	Q32P51	RA1L2_HUMAN			7	1566	+			165			Globular B domain.|RRM 2.		Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.493C>G	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	c	15.31	2.796814	0.50208	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	T;T;T	0.74106	-0.81;-0.81;-0.81	0.352	0.352	0.16051	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.41938	U	0.000784	T	0.65228	0.2671	L	0.28115	0.83	0.31351	N	0.682479	D	0.53462	0.96	P	0.51833	0.681	T	0.66952	-0.5793	10	0.62326	D	0.03	.	6.5752	0.22562	0.0:0.9998:0.0:2.0E-4	.	165	Q32P51	RA1L2_HUMAN	E	165	ENSP00000341285:Q165E;ENSP00000381119:Q165E;ENSP00000350090:Q165E	ENSP00000341285:Q165E	Q	+	1	0	HNRNPA1L2	52115121	0.999000	0.42202	0.954000	0.39281	0.287000	0.27160	1.273000	0.33121	0.455000	0.26910	0.089000	0.15464	CAG		0.468	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		7	63	0	0	0	0	7	63				
TBC1D4	9882	broad.mit.edu	37	13	75911119	75911119	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:75911119C>T	ENST00000377636.3	-	8	2015	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	TBC1D4_ENST00000431480.2_Missense_Mutation_p.D557N|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D557N	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	557					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCAGAATGTCAAGTTTGAAC	0.333																																						uc001vjl.1		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1669-1671)GAC>AAC		TBC1 domain family, member 4							130.0	122.0	124.0					13																	75911119		1822	4085	5907	SO:0001583	missense	9882					cytoplasm	Rab GTPase activator activity	g.chr13:75911119C>T	AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.1669G>A	13.37:g.75911119C>T	ENSP00000366863:p.Asp557Asn					TBC1D4_uc010aer.2_Missense_Mutation_p.D557N|TBC1D4_uc010aes.2_Missense_Mutation_p.D557N	p.D557N	NM_014832	NP_055647	O60343	TBCD4_HUMAN		GBM - Glioblastoma multiforme(99;0.0116)	8	2016	-		Prostate(6;0.014)|Breast(118;0.0982)	557					A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	ENST00000377636.3	37	c.1669G>A	CCDS41901.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101142	0.94245	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000413735	T;T;T;T	0.28255	3.53;3.5;3.53;1.62	5.15	5.15	0.70609	.	0.450078	0.20821	N	0.085065	T	0.46776	0.1410	M	0.68593	2.085	0.80722	D	1	B;P;P	0.44578	0.317;0.838;0.823	B;P;P	0.49999	0.186;0.628;0.543	T	0.38499	-0.9658	10	0.44086	T	0.13	-18.8193	18.973	0.92722	0.0:1.0:0.0:0.0	.	557;557;557	O60343-2;O60343-3;O60343	.;.;TBCD4_HUMAN	N	557;557;557;69	ENSP00000366863:D557N;ENSP00000395986:D557N;ENSP00000366852:D557N;ENSP00000396932:D69N	ENSP00000366852:D557N	D	-	1	0	TBC1D4	74809120	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.260000	0.78391	2.548000	0.85928	0.563000	0.77884	GAC		0.333	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045283.1	NM_014832		8	42	0	0	0	0	8	42				
OR4K5	79317	broad.mit.edu	37	14	20389087	20389087	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20389087A>C	ENST00000315915.4	+	1	347	c.322A>C	c.(322-324)Act>Cct	p.T108P		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCACCTTTTTACTGGAGGGGA	0.428																																						uc010tkw.1		NA																	0				ovary(1)|skin(1)	2						c.(322-324)ACT>CCT		olfactory receptor, family 4, subfamily K,							209.0	221.0	217.0					14																	20389087		2203	4300	6503	SO:0001583	missense	79317				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20389087A>C	BK004355	CCDS32024.1	14q11.22	2012-08-09				ENSG00000176281		"""GPCR / Class A : Olfactory receptors"""	14745	protein-coding gene	gene with protein product						14983052	Standard	NM_001005483		Approved		uc010tkw.2	Q8NGD3		ENST00000315915.4:c.322A>C	14.37:g.20389087A>C	ENSP00000319511:p.Thr108Pro						p.T108P	NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	322	+	all_cancers(95;0.00108)		108			Helical; Name=3; (Potential).		Q6IFA7	Missense_Mutation	SNP	ENST00000315915.4	37	c.322A>C	CCDS32024.1	.	.	.	.	.	.	.	.	.	.	.	14.86	2.662794	0.47572	.	.	ENSG00000176281	ENST00000315915	T	0.00402	7.56	4.41	-0.724	0.11177	GPCR, rhodopsin-like superfamily (1);	0.272597	0.26275	N	0.025309	T	0.00496	0.0016	M	0.67569	2.06	0.09310	N	1	P	0.52577	0.954	P	0.49597	0.616	T	0.49273	-0.8957	10	0.87932	D	0	.	8.7134	0.34397	0.5128:0.0:0.4872:0.0	.	108	Q8NGD3	OR4K5_HUMAN	P	108	ENSP00000319511:T108P	ENSP00000319511:T108P	T	+	1	0	OR4K5	19458927	0.000000	0.05858	0.002000	0.10522	0.838000	0.47535	0.833000	0.27504	-0.024000	0.13941	0.533000	0.62120	ACT		0.428	OR4K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409867.1	NM_001005483		18	241	0	0	0	0	18	241				
OR4L1	122742	broad.mit.edu	37	14	20529070	20529070	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:20529070G>A	ENST00000315683.1	+	1	867	c.867G>A	c.(865-867)ctG>ctA	p.L289L		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTATACCCTGAGAAATAAGA	0.328																																						uc001vwn.1		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(865-867)CTG>CTA		olfactory receptor, family 4, subfamily L,							60.0	65.0	63.0					14																	20529070		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20529070G>A		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.867G>A	14.37:g.20529070G>A							p.L289L	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	867	+	all_cancers(95;0.00108)		289			Helical; Name=7; (Potential).		Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.867G>A	CCDS32029.1																																																																																				0.328	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			12	71	0	0	0	0	12	71				
ADCY4	196883	broad.mit.edu	37	14	24795367	24795367	+	Missense_Mutation	SNP	G	G	A	rs368960669		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:24795367G>A	ENST00000310677.4	-	13	1686	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	ADCY4_ENST00000396747.3_Missense_Mutation_p.R218C|ADCY4_ENST00000554068.2_Missense_Mutation_p.R525C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R525C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	525					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.R525C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CGGGGGGTACGGCTCCTGCAC	0.587																																						uc001wov.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(1573-1575)CGT>TGT		adenylate cyclase 4		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	64.0	61.0	62.0		1573,1573,1573	2.7	1.0	14		62	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	180,180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	525/1078,525/1078,525/1078	24795367	1,13005	2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24795367G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1573C>T	14.37:g.24795367G>A	ENSP00000312126:p.Arg525Cys					ADCY4_uc001wow.2_Missense_Mutation_p.R525C|ADCY4_uc010toh.1_Missense_Mutation_p.R211C|ADCY4_uc001wox.2_Missense_Mutation_p.R525C|ADCY4_uc001woy.2_Missense_Mutation_p.R525C	p.R525C	NM_139247	NP_640340	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	12	1579	-			525			Cytoplasmic (Potential).		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.1573C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154019	0.57259	0.0	1.16E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.58	2.65	0.31530	.	0.188295	0.26907	N	0.021898	T	0.62913	0.2467	L	0.29908	0.895	0.48341	D	0.999634	B	0.14012	0.009	B	0.18263	0.021	T	0.60702	-0.7211	10	0.66056	D	0.02	.	5.5472	0.17071	0.104:0.0:0.7016:0.1944	.	525	Q8NFM4	ADCY4_HUMAN	C	525;525;525;218	ENSP00000312126:R525C;ENSP00000452250:R525C;ENSP00000393177:R525C;ENSP00000379971:R218C	ENSP00000312126:R525C	R	-	1	0	ADCY4	23865207	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	1.060000	0.30530	1.165000	0.42670	0.591000	0.81541	CGT		0.587	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			8	48	0	0	0	0	8	48				
RALGAPA1	253959	broad.mit.edu	37	14	36039926	36039926	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:36039926C>G	ENST00000389698.3	-	38	6265	c.5875G>C	c.(5875-5877)Gat>Cat	p.D1959H	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.D1972H|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.D1959H|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.D2006H	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1959	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAGCACCATCAAAAAGGGGA	0.363																																						uc001wti.2		NA																	0				ovary(3)|breast(1)	4						c.(5875-5877)GAT>CAT		Ral GTPase activating protein, alpha subunit 1							50.0	46.0	47.0					14																	36039926		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36039926C>G	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5875G>C	14.37:g.36039926C>G	ENSP00000374348:p.Asp1959His					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.D1959H|RALGAPA1_uc010tpv.1_Missense_Mutation_p.D1972H|RALGAPA1_uc010tpw.1_Missense_Mutation_p.D2006H	p.D1959H	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			38	6266	-			1959			Minimal domain that binds to TCF3/E12 (By similarity).|Rap-GAP.		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.5875G>C	CCDS32065.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.951312|4.951312	0.92660|0.92660	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892|ENST00000554573	D;D;D;D;D;D|.	0.94330|.	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4|.	5.96|5.96	5.96|5.96	0.96718|0.96718	Rap/ran-GAP (2);|.	0.093387|.	0.64402|.	D|.	0.000001|.	T|T	0.77089|0.77089	0.4079|0.4079	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;0.996;0.995|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.98;0.934|.	T|T	0.73943|0.73943	-0.3823|-0.3823	10|5	0.46703|.	T|.	0.11|.	-20.0626|-20.0626	20.4008|20.4008	0.98991|0.98991	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2006;1972;1959;1959|.	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0|.	.;.;.;RGPA1_HUMAN|.	H|F	1959;1959;1959;2006;597;1972;2006|241	ENSP00000374348:D1959H;ENSP00000302647:D1959H;ENSP00000258840:D2006H;ENSP00000451133:D597H;ENSP00000371803:D1972H;ENSP00000451877:D2006H|.	ENSP00000258840:D2006H|.	D|L	-|-	1|3	0|2	RALGAPA1|RALGAPA1	35109677|35109677	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAT|TTG		0.363	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		3	24	0	0	0	0	3	24				
PAPOLA	10914	broad.mit.edu	37	14	96994296	96994296	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:96994296G>A	ENST00000216277.8	+	6	668	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.E150K|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557320.1_Missense_Mutation_p.E150K|PAPOLA_ENST00000557471.1_Missense_Mutation_p.E150K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	150					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ATAGGCTGTTGAAGAGGCATT	0.353																																					NSCLC(19;254 734 11908 35501 39234)	uc001yfq.2		NA																	0					0						c.(448-450)GAA>AAA		poly(A) polymerase alpha							161.0	159.0	160.0					14																	96994296		2203	4300	6503	SO:0001583	missense	10914				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr14:96994296G>A	X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.448G>A	14.37:g.96994296G>A	ENSP00000216277:p.Glu150Lys					PAPOLA_uc001yfo.2_Missense_Mutation_p.E150K|PAPOLA_uc001yfp.2_Missense_Mutation_p.E150K|PAPOLA_uc001yfr.2_Missense_Mutation_p.E150K|PAPOLA_uc010twv.1_Missense_Mutation_p.E150K|PAPOLA_uc010avp.2_Intron	p.E150K	NM_032632	NP_116021	P51003	PAPOA_HUMAN		COAD - Colon adenocarcinoma(157;0.213)	6	658	+		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)	150					Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	ENST00000216277.8	37	c.448G>A	CCDS9946.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661691	0.88154	.	.	ENSG00000090060	ENST00000216277;ENST00000557320;ENST00000546064;ENST00000557471;ENST00000556619;ENST00000392990	.	.	.	5.78	5.78	0.91487	Nucleotidyl transferase domain (1);Poly(A) polymerase, central domain (1);	0.049439	0.85682	D	0.000000	T	0.75280	0.3828	L	0.60455	1.87	0.80722	D	1	D;D;D;D;D	0.71674	0.975;0.993;0.959;0.987;0.998	P;P;P;P;D	0.64321	0.667;0.848;0.775;0.859;0.924	T	0.69928	-0.5012	9	0.29301	T	0.29	.	20.0211	0.97503	0.0:0.0:1.0:0.0	.	166;166;150;150;166	F5H5I8;B4DYF4;P51003;P51003-2;B4DHB8	.;.;PAPOA_HUMAN;.;.	K	150;150;166;150;164;150	.	ENSP00000216277:E150K	E	+	1	0	PAPOLA	96064049	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	9.424000	0.97464	2.741000	0.93983	0.555000	0.69702	GAA		0.353	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413411.2			24	100	0	0	0	0	24	100				
MTA1	9112	broad.mit.edu	37	14	105916417	105916417	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105916417G>A	ENST00000331320.7	+	5	478	c.264G>A	c.(262-264)gaG>gaA	p.E88E	MTA1_ENST00000406191.1_Silent_p.E88E|MTA1_ENST00000405646.1_Silent_p.E71E	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	88	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGGAAATGGAGAACCCGGAAA	0.627																																						uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(262-264)GAG>GAA		metastasis associated protein							58.0	63.0	61.0					14																	105916417		2203	4300	6503	SO:0001819	synonymous_variant	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105916417G>A	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.264G>A	14.37:g.105916417G>A						MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Silent_p.E2E|MTA1_uc001yra.1_Silent_p.E2E	p.E88E	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	5	451	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	88			BAH.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Silent	SNP	ENST00000331320.7	37	c.264G>A	CCDS32169.1																																																																																				0.627	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			10	66	0	0	0	0	10	66				
MTA1	9112	broad.mit.edu	37	14	105927207	105927207	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:105927207G>C	ENST00000331320.7	+	10	1073	c.859G>C	c.(859-861)Gag>Cag	p.E287Q	MTA1_ENST00000406191.1_Missense_Mutation_p.E287Q|MTA1_ENST00000405646.1_Missense_Mutation_p.E270Q|MTA1_ENST00000435036.2_5'Flank	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	287	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		CGAGATGGAGGAGTGGTCTGC	0.562																																						uc001yqx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(859-861)GAG>CAG		metastasis associated protein							95.0	94.0	94.0					14																	105927207		2203	4298	6501	SO:0001583	missense	9112				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:105927207G>C	U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.859G>C	14.37:g.105927207G>C	ENSP00000333633:p.Glu287Gln					MTA1_uc001yqy.2_RNA|MTA1_uc001yqz.1_Missense_Mutation_p.E201Q|MTA1_uc001yra.1_Missense_Mutation_p.E201Q|MTA1_uc001yrb.2_Missense_Mutation_p.E48Q	p.E287Q	NM_004689	NP_004680	Q13330	MTA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)	10	1046	+		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	287			SANT.		A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	ENST00000331320.7	37	c.859G>C	CCDS32169.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.548584	0.86127	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000498644;ENST00000434050	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	4.23	4.23	0.50019	SANT domain, DNA binding (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.55721	0.1938	L	0.42581	1.335	0.80722	D	1	D;P	0.89917	1.0;0.63	D;P	0.71656	0.974;0.459	T	0.60786	-0.7194	10	0.87932	D	0	-34.6252	15.1882	0.73023	0.0:0.0:1.0:0.0	.	79;287	Q59FW1;Q13330	.;MTA1_HUMAN	Q	196;287;287;270;201;79	ENSP00000333633:E287Q;ENSP00000385702:E287Q;ENSP00000384180:E270Q;ENSP00000394106:E79Q	ENSP00000333633:E287Q	E	+	1	0	MTA1	104998252	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.792000	0.99085	1.926000	0.55796	0.655000	0.94253	GAG		0.562	MTA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317849.15			4	118	0	0	0	0	4	118				
NPAP1	23742	broad.mit.edu	37	15	24923550	24923550	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:24923550G>A	ENST00000329468.2	+	1	3010	c.2536G>A	c.(2536-2538)Gag>Aag	p.E846K		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	846					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGGAAGGAGGAGTACATCCG	0.502																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2536-2538)GAG>AAG		hypothetical protein LOC23742							102.0	94.0	96.0					15																	24923550		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923550G>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2536G>A	15.37:g.24923550G>A	ENSP00000333735:p.Glu846Lys						p.E846K	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	3010	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	846						Missense_Mutation	SNP	ENST00000329468.2	37	c.2536G>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	10.91	1.483716	0.26598	.	.	ENSG00000185823	ENST00000329468	T	0.06608	3.28	1.5	-1.06	0.10002	.	.	.	.	.	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	P	0.34977	0.478	B	0.25987	0.065	T	0.42085	-0.9472	9	0.07325	T	0.83	.	4.2388	0.10638	0.5185:0.0:0.4815:0.0	.	846	Q9NZP6	CO002_HUMAN	K	846	ENSP00000333735:E846K	ENSP00000333735:E846K	E	+	1	0	C15orf2	22474643	0.002000	0.14202	0.001000	0.08648	0.120000	0.20174	-1.169000	0.03120	-0.295000	0.08960	0.205000	0.17691	GAG		0.502	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		12	98	0	0	0	0	12	98				
GABRB3	2562	broad.mit.edu	37	15	26806250	26806250	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:26806250G>C	ENST00000311550.5	-	8	1020	c.909C>G	c.(907-909)gtC>gtG	p.V303V	GABRB3_ENST00000545868.1_Silent_p.V218V|GABRB3_ENST00000541819.2_Silent_p.V359V|GABRB3_ENST00000299267.4_Silent_p.V303V|GABRB3_ENST00000400188.3_Silent_p.V232V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	303	Allosteric effector binding.				cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAATGGCTTTGACATAGGGGA	0.478																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(907-909)GTC>GTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						182.0	172.0	175.0					15																	26806250		2203	4300	6503	SO:0001819	synonymous_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26806250G>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.909C>G	15.37:g.26806250G>C						GABRB3_uc010uae.1_Silent_p.V218V|GABRB3_uc001zba.2_Silent_p.V303V|GABRB3_uc001zbb.2_Silent_p.V359V	p.V303V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	8	1051	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	303					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.909C>G	CCDS10019.1																																																																																				0.478	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			13	94	0	0	0	0	13	94				
C15orf52	388115	broad.mit.edu	37	15	40630982	40630982	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:40630982C>T	ENST00000559313.1	-	4	501	c.486G>A	c.(484-486)gtG>gtA	p.V162V	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_5'Flank	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	162							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CAGCCAGCTCCACCAGCTCCC	0.607																																						uc001zlh.3		NA																	0				large_intestine(1)	1						c.(484-486)GTG>GTA		hypothetical protein LOC388115							183.0	207.0	199.0					15																	40630982		2168	4260	6428	SO:0001819	synonymous_variant	388115							g.chr15:40630982C>T	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.486G>A	15.37:g.40630982C>T						C15orf52_uc001zli.1_Silent_p.V94V|C15orf52_uc010ucn.1_5'Flank	p.V162V	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	4	502	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	162					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	c.486G>A	CCDS10055.2																																																																																				0.607	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2	NM_207380		11	50	0	0	0	0	11	50				
EXD1	161829	broad.mit.edu	37	15	41476415	41476416	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:41476415_41476416TC>AT	ENST00000314992.5	-	10	1448_1449	c.1258_1259GA>AT	c.(1258-1260)GAg>ATg	p.E420M	EXD1_ENST00000458580.2_Missense_Mutation_p.E478M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	420							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TCTCTGGTCCTCTGACCCCTTT	0.416																																						uc001znk.2		NA																	0				ovary(1)	1						c.(1258-1260)GAG>ATG		exonuclease 3'-5' domain containing 1																																				SO:0001583	missense	161829				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr15:41476415_41476416TC>AT	BC030628	CCDS10072.1, CCDS66738.1	15q15.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000178997	ENSG00000178997			28507	protein-coding gene	gene with protein product			"""exonuclease 3'-5' domain-like 1"""	EXDL1		12477932	Standard	NM_001286441		Approved	MGC33637	uc001znk.3	Q8NHP7	OTTHUMG00000130232	ENST00000314992.5:c.1258_1259delinsAT	15.37:g.41476415_41476416delinsAT	ENSP00000321029:p.Glu420Met					EXD1_uc001znj.2_Missense_Mutation_p.E218M|EXD1_uc010ucv.1_Missense_Mutation_p.E478M	p.E420M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN			10	1449_1450	-			420					A8K909|B7Z839|Q6ZW94	Missense_Mutation	DNP	ENST00000314992.5	37	c.1258_1259GA>AT	CCDS10072.1																																																																																				0.416	EXD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252553.2	NM_152596		21	137	0	0	0	0	21	137				
NMB	4828	broad.mit.edu	37	15	85201312	85201312	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:85201312G>A	ENST00000360476.3	-	1	467	c.72C>T	c.(70-72)gtC>gtT	p.V24V	NMB_ENST00000394588.3_Silent_p.V24V			P08949	NMB_HUMAN	neuromedin B	24					arachidonic acid secretion (GO:0050482)|cell-cell signaling (GO:0007267)|glucose homeostasis (GO:0042593)|negative regulation of hormone secretion (GO:0046888)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of hormone secretion (GO:0046887)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|neuron projection (GO:0043005)	hormone activity (GO:0005179)			endometrium(1)	1				all cancers(203;3.5e-06)		TGAGCGGGGCGACGCCGGCAG	0.726																																						uc002bkz.2		NA																	0					0						c.(70-72)GTC>GTT		neuromedin B isoform 1							13.0	16.0	15.0					15																	85201312		2187	4272	6459	SO:0001819	synonymous_variant	4828				cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity	g.chr15:85201312G>A		CCDS10332.1, CCDS42076.1	15q25.2-q25.3	2013-09-19			ENSG00000197696	ENSG00000197696			7842	protein-coding gene	gene with protein product		162340				2458345	Standard	NM_021077		Approved	MGC2277, MGC3936, MGC17211	uc002bla.3	P08949	OTTHUMG00000148666	ENST00000360476.3:c.72C>T	15.37:g.85201312G>A						NMB_uc002bla.2_Silent_p.V24V	p.V24V	NM_021077	NP_066563	P08949	NMB_HUMAN		all cancers(203;3.5e-06)	1	491	-			24					Q96A06|Q96HH5	Silent	SNP	ENST00000360476.3	37	c.72C>T	CCDS10332.1																																																																																				0.726	NMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308995.1	NM_021077		5	17	0	0	0	0	5	17				
MAN2A2	4122	broad.mit.edu	37	15	91448552	91448552	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr15:91448552C>T	ENST00000559717.1	+	3	663	c.204C>T	c.(202-204)atC>atT	p.I68I	MAN2A2_ENST00000431652.2_5'Flank|MAN2A2_ENST00000360468.3_Silent_p.I68I			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	68					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGAGATTATCAGCCATATCA	0.552																																						uc010bnz.2		NA																	0				large_intestine(2)|ovary(1)	3						c.(202-204)ATC>ATT		mannosidase, alpha, class 2A, member 2							68.0	70.0	69.0					15																	91448552		2198	4298	6496	SO:0001819	synonymous_variant	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91448552C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.204C>T	15.37:g.91448552C>T						MAN2A2_uc010boa.2_Silent_p.I110I|MAN2A2_uc002bqc.2_Silent_p.I68I|MAN2A2_uc010uql.1_5'Flank|MAN2A2_uc010uqm.1_5'Flank	p.I68I	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		3	319	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		68			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Silent	SNP	ENST00000559717.1	37	c.204C>T	CCDS32332.1																																																																																				0.552	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122		11	107	0	0	0	0	11	107				
SPSB3	90864	broad.mit.edu	37	16	1831369	1831369	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:1831369G>A	ENST00000566339.1	-	2	446	c.116C>T	c.(115-117)tCt>tTt	p.S39F	NUBP2_ENST00000543305.1_5'Flank|NUBP2_ENST00000565134.1_5'Flank|NUBP2_ENST00000565987.1_5'Flank|NUBP2_ENST00000568706.1_5'Flank|SPSB3_ENST00000301717.4_Missense_Mutation_p.S39F|NUBP2_ENST00000262302.9_5'Flank	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	39					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGCCCATCAGAGTCGTAGCC	0.642																																						uc002cmr.2		NA																	0					0						c.(115-117)TCT>TTT		splA/ryanodine receptor domain and SOCS box							52.0	50.0	51.0					16																	1831369		2199	4300	6499	SO:0001583	missense	90864				intracellular signal transduction			g.chr16:1831369G>A		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.116C>T	16.37:g.1831369G>A	ENSP00000457206:p.Ser39Phe					NUBP2_uc002cmw.3_5'Flank|NUBP2_uc002cmx.3_5'Flank|NUBP2_uc010brx.2_5'Flank|SPSB3_uc002cms.2_5'UTR|SPSB3_uc002cmt.2_5'UTR|SPSB3_uc002cmu.2_Missense_Mutation_p.S39F|SPSB3_uc002cmv.2_5'UTR|SPSB3_uc010uvm.1_Missense_Mutation_p.S39F	p.S39F	NM_080861	NP_543137	Q6PJ21	SPSB3_HUMAN			1	149	-			39					D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	c.116C>T	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.840670	0.32513	.	.	ENSG00000162032	ENST00000301717	T	0.46819	0.86	4.06	4.06	0.47325	.	0.241366	0.35615	N	0.003088	T	0.64382	0.2593	L	0.60455	1.87	0.45097	D	0.998116	D;P	0.89917	1.0;0.868	D;B	0.83275	0.996;0.325	T	0.68394	-0.5420	10	0.66056	D	0.02	-13.2715	14.9681	0.71210	0.0:0.0:1.0:0.0	.	39;39	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	F	39	ENSP00000301717:S39F	ENSP00000301717:S39F	S	-	2	0	SPSB3	1771370	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.381000	0.73163	2.100000	0.63781	0.462000	0.41574	TCT		0.642	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1	NM_080861		6	59	0	0	0	0	6	59				
MPV17L	255027	broad.mit.edu	37	16	15501680	15501680	+	Splice_Site	SNP	G	G	A	rs144408494		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:15501680G>A	ENST00000396385.3	+	3	500		c.e3-1		MPV17L_ENST00000287594.7_Splice_Site|RP11-1021N1.1_ENST00000568222.1_Intron	NM_001128423.1	NP_001121895.1	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like						negative regulation of hydrogen peroxide biosynthetic process (GO:0010730)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|reactive oxygen species metabolic process (GO:0072593)	integral component of membrane (GO:0016021)|peroxisome (GO:0005777)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|skin(1)	4						CCCAATTCCAGAGTGGACTGA	0.368																																						uc002ddn.2		NA																	0					0						c.e3-1		MPV17 mitochondrial membrane protein-like							85.0	76.0	79.0					16																	15501680		2197	4300	6497	SO:0001630	splice_region_variant	255027					integral to membrane|peroxisomal membrane		g.chr16:15501680G>A	DQ004255	CCDS10560.1, CCDS45421.1	16p13.11	2009-04-06			ENSG00000156968	ENSG00000156968			26827	protein-coding gene	gene with protein product						16631601	Standard	NM_001128423		Approved	FLJ39599, MLPH1, MLPH2, MPV17L1	uc002ddn.2	Q2QL34	OTTHUMG00000129882	ENST00000396385.3:c.382-1G>A	16.37:g.15501680G>A						MPV17L_uc002ddm.2_Splice_Site_p.E104_splice	p.S128_splice	NM_001128423	NP_001121895	Q2QL34	MP17L_HUMAN			3	526	+								B4DDY1|Q6P7T6|Q8N8E9	Splice_Site	SNP	ENST00000396385.3	37	c.382_splice	CCDS45421.1	.	.	.	.	.	.	.	.	.	.	.	8.851	0.944576	0.18356	.	.	ENSG00000156968	ENST00000287594;ENST00000396385	.	.	.	4.56	4.56	0.56223	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0823	0.64932	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MPV17L	15409181	1.000000	0.71417	0.895000	0.35142	0.015000	0.08874	6.123000	0.71614	2.091000	0.63221	0.471000	0.43371	.		0.368	MPV17L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422450.1	NM_173803	Intron	6	37	0	0	0	0	6	37				
ABCC6	368	broad.mit.edu	37	16	16302657	16302657	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:16302657C>T	ENST00000205557.7	-	7	751	c.722G>A	c.(721-723)aGa>aAa	p.R241K	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	241					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	Cisplatin(DB00515)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Etoposide(DB00773)|Indomethacin(DB00328)|Probenecid(DB01032)|Sulfinpyrazone(DB01138)|Teniposide(DB00444)|Vinblastine(DB00570)	GGAGTTTTCTCTCCCAAGCGA	0.552																																						uc002den.3		NA																	0				skin(2)|ovary(1)	3						c.(721-723)AGA>AAA		ATP-binding cassette, sub-family C, member 6							39.0	37.0	38.0					16																	16302657		2197	4292	6489	SO:0001583	missense	368				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16302657C>T	AF076622	CCDS10568.1, CCDS58430.1	16p13.11	2013-01-08			ENSG00000091262	ENSG00000091262		"""ATP binding cassette transporters / subfamily C"""	57	protein-coding gene	gene with protein product		603234	"""pseudoxanthoma elasticum"""	ARA, PXE		9721217, 11439001	Standard	NM_001079528		Approved	MRP6, EST349056, MLP1, URG7	uc002den.4	O95255	OTTHUMG00000129967	ENST00000205557.7:c.722G>A	16.37:g.16302657C>T	ENSP00000205557:p.Arg241Lys					ABCC6_uc010bvo.2_RNA|ABCC6_uc010uzz.1_Missense_Mutation_p.R253K	p.R241K	NM_001171	NP_001162	O95255	MRP6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.123)	7	759	-			241			Cytoplasmic (By similarity).		A2RRN8|A8KIG6|A8Y988|E7ESW8|P78420|Q8TCY8|Q9UMZ7	Missense_Mutation	SNP	ENST00000205557.7	37	c.722G>A	CCDS10568.1	.	.	.	.	.	.	.	.	.	.	.	0.007	-1.947937	0.00475	.	.	ENSG00000091262	ENST00000205557;ENST00000456970;ENST00000546056	D;D	0.94232	-3.38;-3.38	4.09	-2.62	0.06152	.	0.886056	0.09577	N	0.783374	T	0.80518	0.4638	N	0.05330	-0.07	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.68281	-0.5450	10	0.02654	T	1	.	9.3099	0.37898	0.0:0.3498:0.0:0.6502	.	253;241	F5GWQ0;O95255	.;MRP6_HUMAN	K	241;241;253	ENSP00000205557:R241K;ENSP00000405002:R241K	ENSP00000205557:R241K	R	-	2	0	ABCC6	16210158	0.000000	0.05858	0.018000	0.16275	0.135000	0.20990	0.053000	0.14184	-0.396000	0.07703	-0.361000	0.07541	AGA		0.552	ABCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252232.2			6	58	0	0	0	0	6	58				
POLR3E	55718	broad.mit.edu	37	16	22320755	22320755	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22320755G>A	ENST00000299853.5	+	6	455	c.288G>A	c.(286-288)ctG>ctA	p.L96L	POLR3E_ENST00000564209.1_Silent_p.L96L|POLR3E_ENST00000564256.1_3'UTR|POLR3E_ENST00000418581.2_Silent_p.L60L|POLR3E_ENST00000359210.4_Silent_p.L96L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	96					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		CCAGGAAGCTGATGGACAAGC	0.617																																						uc002dkk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(286-288)CTG>CTA		RNA polymerase III polypeptide E							287.0	262.0	270.0					16																	22320755		2197	4300	6497	SO:0001819	synonymous_variant	55718				innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity	g.chr16:22320755G>A	AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.288G>A	16.37:g.22320755G>A						POLR3E_uc002dkj.1_Silent_p.L96L|POLR3E_uc002dkm.2_Silent_p.L60L|POLR3E_uc010vbr.1_Silent_p.L96L|POLR3E_uc002dkl.2_Silent_p.L96L|POLR3E_uc010vbs.1_Silent_p.L60L|POLR3E_uc010vbt.1_Silent_p.L40L	p.L96L	NM_018119	NP_060589	Q9NVU0	RPC5_HUMAN		GBM - Glioblastoma multiforme(48;0.012)	6	444	+			96					B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	ENST00000299853.5	37	c.288G>A	CCDS10605.1																																																																																				0.617	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211590.1	NM_018119		39	291	0	0	0	0	39	291				
HS3ST2	9956	broad.mit.edu	37	16	22926538	22926538	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:22926538C>G	ENST00000261374.3	+	2	1193	c.759C>G	c.(757-759)taC>taG	p.Y253*		NM_006043.1	NP_006034.1	Q9Y278	HS3S2_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 2	253					carbohydrate metabolic process (GO:0005975)|circadian rhythm (GO:0007623)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity (GO:0033871)|sulfotransferase activity (GO:0008146)			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCGGCATGTACGTGCTGCACC	0.632																																						uc002dli.2		NA																	0				ovary(1)|pancreas(1)	2						c.(757-759)TAC>TAG		heparan sulfate D-glucosaminyl							115.0	101.0	106.0					16																	22926538		2197	4300	6497	SO:0001587	stop_gained	9956					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity	g.chr16:22926538C>G	AF105374	CCDS10606.1	16p12	2008-02-05			ENSG00000122254	ENSG00000122254	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5195	protein-coding gene	gene with protein product		604056				9988767	Standard	NM_006043		Approved	3OST2	uc002dli.3	Q9Y278	OTTHUMG00000094785	ENST00000261374.3:c.759C>G	16.37:g.22926538C>G	ENSP00000261374:p.Tyr253*					HS3ST2_uc002dlj.2_RNA	p.Y253*	NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN		GBM - Glioblastoma multiforme(48;0.0299)	2	831	+			253			Lumenal (Potential).		Q52LZ1	Nonsense_Mutation	SNP	ENST00000261374.3	37	c.759C>G	CCDS10606.1	.	.	.	.	.	.	.	.	.	.	C	38	6.861921	0.97893	.	.	ENSG00000122254	ENST00000261374;ENST00000540146	.	.	.	5.21	-1.29	0.09288	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0798	0.53665	0.0:0.5367:0.0:0.4633	.	.	.	.	X	253;261	.	ENSP00000261374:Y253X	Y	+	3	2	HS3ST2	22834039	0.013000	0.17824	0.957000	0.39632	0.991000	0.79684	-0.589000	0.05767	-0.082000	0.12640	-0.254000	0.11334	TAC		0.632	HS3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211598.1	NM_006043		13	134	0	0	0	0	13	134				
SRCAP	10847	broad.mit.edu	37	16	30723672	30723672	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:30723672G>A	ENST00000262518.4	+	13	2290	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.K635K|SRCAP_ENST00000344771.4_Silent_p.K635K	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	635	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTATGAGAAGAAGCTTAATG	0.532																																						uc002dze.1		NA																	0				ovary(3)|skin(1)	4						c.(1903-1905)AAG>AAA		Snf2-related CBP activator protein							101.0	89.0	93.0					16																	30723672		2197	4300	6497	SO:0001819	synonymous_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30723672G>A	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1905G>A	16.37:g.30723672G>A						SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Silent_p.K492K|SRCAP_uc010bzz.1_Silent_p.K205K	p.K635K	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		13	2290	+			635			Helicase ATP-binding.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	ENST00000262518.4	37	c.1905G>A	CCDS10689.2																																																																																				0.532	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		11	95	0	0	0	0	11	95				
ORC6	23594	broad.mit.edu	37	16	46726320	46726320	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:46726320G>C	ENST00000219097.2	+	3	282	c.222G>C	c.(220-222)ttG>ttC	p.L74F	ORC6_ENST00000566860.1_Missense_Mutation_p.L25F|ORC6_ENST00000568364.2_Missense_Mutation_p.L74F	NM_014321.3	NP_055136.1	Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	74					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|origin recognition complex (GO:0000808)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						TTTCTGGTTTGAACAAGGAGA	0.323																																						uc002eeh.2		NA																	0					0						c.(220-222)TTG>TTC		origin recognition complex subunit 6							114.0	121.0	119.0					16																	46726320		2203	4300	6503	SO:0001583	missense	23594				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding	g.chr16:46726320G>C	AF139658	CCDS10722.1	16q12	2010-10-12	2010-10-12	2010-10-12	ENSG00000091651	ENSG00000091651			17151	protein-coding gene	gene with protein product		607213	"""origin recognition complex, subunit 6 homolog-like (yeast)"", ""origin recognition complex, subunit 6 like (yeast)"""	ORC6L		10945994	Standard	NM_014321		Approved		uc002eeh.3	Q9Y5N6	OTTHUMG00000132539	ENST00000219097.2:c.222G>C	16.37:g.46726320G>C	ENSP00000219097:p.Leu74Phe					ORC6L_uc002eeg.1_Missense_Mutation_p.L74F|ORC6L_uc010cbe.1_Missense_Mutation_p.L25F	p.L74F	NM_014321	NP_055136	Q9Y5N6	ORC6_HUMAN			3	282	+		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)	74					B3KN89	Missense_Mutation	SNP	ENST00000219097.2	37	c.222G>C	CCDS10722.1	.	.	.	.	.	.	.	.	.	.	G	19.81	3.897218	0.72639	.	.	ENSG00000091651	ENST00000219097	T	0.54279	0.58	6.07	5.12	0.69794	.	0.079031	0.51477	D	0.000081	T	0.70718	0.3256	M	0.86028	2.79	0.58432	D	0.999995	D;D	0.63880	0.993;0.975	P;P	0.62740	0.906;0.877	T	0.73113	-0.4085	10	0.54805	T	0.06	.	10.9489	0.47317	0.1384:0.0:0.8616:0.0	.	74;74	B3KMP9;Q9Y5N6	.;ORC6_HUMAN	F	74	ENSP00000219097:L74F	ENSP00000219097:L74F	L	+	3	2	ORC6	45283821	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	2.712000	0.47186	2.885000	0.99019	0.655000	0.94253	TTG		0.323	ORC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255739.3			11	69	0	0	0	0	11	69				
NOB1	28987	broad.mit.edu	37	16	69788590	69788590	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:69788590T>C	ENST00000268802.5	-	2	132	c.103A>G	c.(103-105)Act>Gct	p.T35A		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	35	PINc.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGAATCTCAGTGACCACCTCC	0.632																																						uc002exs.2		NA																	0					0						c.(103-105)ACT>GCT		nin one binding protein							74.0	65.0	68.0					16																	69788590		2198	4300	6498	SO:0001583	missense	28987					nucleus	metal ion binding|protein binding	g.chr16:69788590T>C	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.103A>G	16.37:g.69788590T>C	ENSP00000268802:p.Thr35Ala						p.T35A	NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN			2	119	-			35			PINc.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	Missense_Mutation	SNP	ENST00000268802.5	37	c.103A>G	CCDS10884.1	.	.	.	.	.	.	.	.	.	.	T	9.648	1.140784	0.21205	.	.	ENSG00000141101	ENST00000268802	T	0.27402	1.67	4.45	0.865	0.19074	Nucleotide binding protein, PINc (1);	11.526300	0.00710	N	0.000836	T	0.11367	0.0277	N	0.01352	-0.895	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.19289	-1.0310	9	.	.	.	.	4.9258	0.13892	0.0:0.3028:0.1537:0.5436	.	35	Q9ULX3	NOB1_HUMAN	A	35	ENSP00000268802:T35A	.	T	-	1	0	NOB1	68346091	0.002000	0.14202	0.857000	0.33713	0.912000	0.54170	0.448000	0.21726	0.023000	0.15187	-0.353000	0.07706	ACT		0.632	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		5	36	0	0	0	0	5	36				
PHLPP2	23035	broad.mit.edu	37	16	71683624	71683624	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:71683624G>A	ENST00000568954.1	-	19	3519	c.3141C>T	c.(3139-3141)ctC>ctT	p.L1047L	PHLPP2_ENST00000393524.2_Silent_p.L980L|PHLPP2_ENST00000540628.1_Intron|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Silent_p.L1047L|PHLPP2_ENST00000567016.1_Silent_p.L1082L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1047					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTGGGAGGGTGAGCCCATTCA	0.512																																						uc002fax.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(3139-3141)CTC>CTT		PH domain and leucine rich repeat protein							132.0	143.0	140.0					16																	71683624		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71683624G>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.3141C>T	16.37:g.71683624G>A						PHLPP2_uc002fav.2_Intron|PHLPP2_uc010cgf.2_Silent_p.L980L	p.L1047L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			18	3147	-			1047					A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.3141C>T	CCDS32479.1																																																																																				0.512	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1	NM_015020		19	153	0	0	0	0	19	153				
DHX38	9785	broad.mit.edu	37	16	72137934	72137934	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:72137934C>T	ENST00000268482.3	+	14	2423	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	638	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GAGAGTCCCTCCGGGAAGCCG	0.577																																					Melanoma(97;711 1442 7855 13832 28836)	uc002fcb.2		NA																	0				skin(1)	1						c.(1912-1914)CTC>CTT		DEAH (Asp-Glu-Ala-His) box polypeptide 38							117.0	106.0	109.0					16																	72137934		2198	4300	6498	SO:0001819	synonymous_variant	9785				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr16:72137934C>T	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.1914C>T	16.37:g.72137934C>T						DHX38_uc010vmp.1_Intron	p.L638L	NM_014003	NP_054722	Q92620	PRP16_HUMAN			14	2269	+		Ovarian(137;0.125)	638			Helicase ATP-binding.		B4DVG8|D3DWS7|O75212|Q96HN7	Silent	SNP	ENST00000268482.3	37	c.1914C>T	CCDS10907.1																																																																																				0.577	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		9	87	0	0	0	0	9	87				
PLCG2	5336	broad.mit.edu	37	16	81929467	81929467	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:81929467G>A	ENST00000359376.3	+	13	1342	c.1128G>A	c.(1126-1128)cgG>cgA	p.R376R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	376	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCTGGACGCGGACTACCAAGA	0.557																																						uc002fgt.2		NA																	0				large_intestine(4)|lung(2)|ovary(1)|skin(1)	8						c.(1126-1128)CGG>CGA		phospholipase C, gamma 2							142.0	151.0	148.0					16																	81929467		2084	4239	6323	SO:0001819	synonymous_variant	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81929467G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.1128G>A	16.37:g.81929467G>A						PLCG2_uc010chg.1_Silent_p.R376R	p.R376R	NM_002661	NP_002652	P16885	PLCG2_HUMAN			13	1280	+			376			PI-PLC X-box.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Silent	SNP	ENST00000359376.3	37	c.1128G>A	CCDS42204.1																																																																																				0.557	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			16	96	0	0	0	0	16	96				
C17orf85	55421	broad.mit.edu	37	17	3724646	3724646	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:3724646C>T	ENST00000389005.4	-	9	924	c.897G>A	c.(895-897)tgG>tgA	p.W299*	C17orf85_ENST00000158149.3_Splice_Site_p.W19*|C17orf85_ENST00000577169.1_5'Flank	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	299							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATCTTCGCTTCCTGCAAGAAT	0.413																																						uc010ckl.1		NA																	0				skin(1)	1						c.(895-897)TGG>TGA		ELG protein isoform a							99.0	83.0	88.0					17																	3724646		2203	4300	6503	SO:0001630	splice_region_variant	55421						nucleotide binding	g.chr17:3724646C>T		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.897-1G>A	17.37:g.3724646C>T						C17orf85_uc002fwr.2_Nonsense_Mutation_p.W9*|C17orf85_uc002fwq.2_Nonsense_Mutation_p.W19*	p.W299*	NM_001114118	NP_001107590	Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	9	920	-			299					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Nonsense_Mutation	SNP	ENST00000389005.4	37	c.897G>A	CCDS45578.1	.	.	.	.	.	.	.	.	.	.	C	45	11.690221	0.99591	.	.	ENSG00000074356	ENST00000389005;ENST00000158149	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0526	0.86524	0.0:1.0:0.0:0.0	.	.	.	.	X	299;19	.	ENSP00000158149:W19X	W	-	3	0	C17orf85	3671395	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.932000	0.75869	2.708000	0.92522	0.563000	0.77884	TGG		0.413	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553	Nonsense_Mutation	8	82	0	0	0	0	8	82				
KIAA0753	9851	broad.mit.edu	37	17	6483153	6483153	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:6483153C>G	ENST00000361413.3	-	19	3176	c.2818G>C	c.(2818-2820)Ggt>Cgt	p.G940R	KIAA0753_ENST00000542606.1_Missense_Mutation_p.G641R|KIAA0753_ENST00000589033.1_Missense_Mutation_p.G396R|KIAA0753_ENST00000572370.1_Missense_Mutation_p.G641R	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	940						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCCACAGCACCCAGAGCTTCA	0.493																																						uc002gde.3		NA																	0					0						c.(2818-2820)GGT>CGT		hypothetical protein LOC9851							104.0	101.0	102.0					17																	6483153		1993	4184	6177	SO:0001583	missense	9851					centrosome		g.chr17:6483153C>G		CCDS42247.1	17p13.1	2014-04-04			ENSG00000198920	ENSG00000198920			29110	protein-coding gene	gene with protein product						24613305	Standard	NM_014804		Approved		uc002gde.4	Q2KHM9	OTTHUMG00000177928	ENST00000361413.3:c.2818G>C	17.37:g.6483153C>G	ENSP00000355250:p.Gly940Arg					KIAA0753_uc010vtd.1_Missense_Mutation_p.G396R|KIAA0753_uc010clo.2_Missense_Mutation_p.G641R|KIAA0753_uc010vte.1_Missense_Mutation_p.G641R	p.G940R	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN		COAD - Colon adenocarcinoma(228;0.157)	19	3177	-			940					A8KA11|B7Z479|O94853|Q05D97|Q2KHN0|Q9UG45	Missense_Mutation	SNP	ENST00000361413.3	37	c.2818G>C	CCDS42247.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.114136	0.77210	.	.	ENSG00000198920	ENST00000361413;ENST00000542606;ENST00000542826	T;T	0.39997	1.05;1.05	5.44	5.44	0.79542	.	0.313135	0.33005	N	0.005389	T	0.60235	0.2253	M	0.65975	2.015	0.34262	D	0.68	D	0.57257	0.979	P	0.59546	0.859	T	0.70920	-0.4741	10	0.62326	D	0.03	-22.0589	17.1277	0.86718	0.0:1.0:0.0:0.0	.	940	Q2KHM9	K0753_HUMAN	R	940;641;396	ENSP00000355250:G940R;ENSP00000444634:G641R	ENSP00000355250:G940R	G	-	1	0	KIAA0753	6423877	0.965000	0.33210	0.798000	0.32154	0.887000	0.51463	2.364000	0.44187	2.719000	0.93026	0.557000	0.71058	GGT		0.493	KIAA0753-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439769.3	NM_014804		10	95	0	0	0	0	10	95				
DNAH2	146754	broad.mit.edu	37	17	7695575	7695575	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:7695575G>A	ENST00000572933.1	+	46	8519	c.7059G>A	c.(7057-7059)acG>acA	p.T2353T	DNAH2_ENST00000389173.2_Silent_p.T2353T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2353					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTAGGACACGGTATATGAGT	0.532																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(7057-7059)ACG>ACA		dynein heavy chain domain 3							84.0	79.0	81.0					17																	7695575		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7695575G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7059G>A	17.37:g.7695575G>A							p.T2353T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			45	7073	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2353					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7059G>A	CCDS32551.1																																																																																				0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		10	98	0	0	0	0	10	98				
NCOR1	9611	broad.mit.edu	37	17	16005052	16005052	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:16005052G>A	ENST00000268712.3	-	20	2459	c.2202C>T	c.(2200-2202)agC>agT	p.S734S	RNU6-314P_ENST00000516574.1_RNA|NCOR1_ENST00000395851.1_Silent_p.S750S|NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Silent_p.S641S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	734					CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACTGTCCTCGCTGGGCTTGA	0.463																																						uc002gpo.2		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(2200-2202)AGC>AGT		nuclear receptor co-repressor 1							66.0	64.0	65.0					17																	16005052		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:16005052G>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.2202C>T	17.37:g.16005052G>A						NCOR1_uc002gpn.2_Silent_p.S750S|NCOR1_uc002gpp.1_Silent_p.S641S|NCOR1_uc002gpr.2_Silent_p.S641S	p.S734S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	20	2442	-			734					B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.2202C>T	CCDS11175.1																																																																																				0.463	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		13	67	0	0	0	0	13	67				
FAM83G	644815	broad.mit.edu	37	17	18874772	18874772	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:18874772G>A	ENST00000388995.6	-	6	2595	c.2372C>T	c.(2371-2373)tCt>tTt	p.S791F	SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S791F|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S791F|SLC5A10_ENST00000395643.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	791					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTTCGACTGAGACAGTTTGGA	0.632																																						uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2371-2373)TCT>TTT		hypothetical protein LOC644815							89.0	101.0	97.0					17																	18874772		2066	4183	6249	SO:0001583	missense	644815							g.chr17:18874772G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.2372C>T	17.37:g.18874772G>A	ENSP00000373647:p.Ser791Phe					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.S791F	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			6	2539	-			791					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.2372C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445582	0.84101	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.19532	2.14;2.14	5.54	5.54	0.83059	.	0.065805	0.64402	D	0.000011	T	0.48187	0.1486	M	0.71581	2.175	0.38933	D	0.957975	D	0.76494	0.999	D	0.68192	0.956	T	0.49707	-0.8911	10	0.87932	D	0	-40.7149	19.8311	0.96636	0.0:0.0:1.0:0.0	.	791	A6ND36	FA83G_HUMAN	F	791	ENSP00000373647:S791F;ENSP00000343279:S791F	ENSP00000343279:S791F	S	-	2	0	FAM83G	18815497	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.410000	0.59774	2.768000	0.95171	0.561000	0.74099	TCT		0.632	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			24	153	0	0	0	0	24	153				
KIAA0100	9703	broad.mit.edu	37	17	26961608	26961608	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:26961608A>G	ENST00000528896.2	-	16	3071	c.2997T>C	c.(2995-2997)ccT>ccC	p.P999P	KIAA0100_ENST00000544884.1_Silent_p.P856P|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.P856P|RP11-192H23.7_ENST00000577814.1_RNA	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	999						extracellular region (GO:0005576)		p.P999P(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CAGGGGGAAAAGGGCTGCCTG	0.493																																						uc002hbu.2		NA																	1	Substitution - coding silent(1)		prostate(1)	ovary(2)|breast(1)|skin(1)	4						c.(2995-2997)CCT>CCC		hypothetical protein LOC9703 precursor							110.0	106.0	107.0					17																	26961608		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26961608A>G	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.2997T>C	17.37:g.26961608A>G							p.P999P	NM_014680	NP_055495	Q14667	K0100_HUMAN			16	3096	-	Lung NSC(42;0.00431)		999					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.2997T>C	CCDS32595.1																																																																																				0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		3	131	0	0	0	0	3	131				
KRT27	342574	broad.mit.edu	37	17	38933275	38933275	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:38933275C>G	ENST00000301656.3	-	8	1396	c.1356G>C	c.(1354-1356)aaG>aaC	p.K452N	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2			keratin 27											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTGTTCATTCTTGTTGTTGA	0.433																																						uc002hvg.2		NA																	0					0						c.(1354-1356)AAG>AAC		keratin 27							122.0	123.0	123.0					17																	38933275		2203	4300	6503	SO:0001583	missense	342574					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38933275C>G	AJ564206	CCDS11375.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000171446	ENSG00000171446		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30841	protein-coding gene	gene with protein product			"""keratin 25C"""	KRT25C		16831889	Standard	NM_181537		Approved		uc002hvg.3	Q7Z3Y8	OTTHUMG00000133371	ENST00000301656.3:c.1356G>C	17.37:g.38933275C>G	ENSP00000301656:p.Lys452Asn						p.K452N	NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN			8	1397	-		Breast(137;0.000812)	452			Tail.			Missense_Mutation	SNP	ENST00000301656.3	37	c.1356G>C	CCDS11375.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.818574	0.50633	.	.	ENSG00000171446	ENST00000301656	D	0.83335	-1.71	5.66	4.69	0.59074	.	0.082997	0.52532	D	0.000073	T	0.79936	0.4532	L	0.60455	1.87	0.33792	D	0.625586	P	0.42078	0.77	B	0.41440	0.357	D	0.84460	0.0593	10	0.38643	T	0.18	.	10.6365	0.45569	0.0:0.9117:0.0:0.0883	.	452	Q7Z3Y8	K1C27_HUMAN	N	452	ENSP00000301656:K452N	ENSP00000301656:K452N	K	-	3	2	KRT27	36186801	0.852000	0.29690	0.504000	0.27639	0.925000	0.55904	0.410000	0.21098	1.522000	0.49001	0.650000	0.86243	AAG		0.433	KRT27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257216.1	NM_181537		14	55	0	0	0	0	14	55				
AKAP1	8165	broad.mit.edu	37	17	55183032	55183032	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:55183032C>T	ENST00000337714.3	+	2	440	c.207C>T	c.(205-207)tcC>tcT	p.S69S	AKAP1_ENST00000539273.1_Silent_p.S69S|AKAP1_ENST00000572557.1_Silent_p.S69S|AKAP1_ENST00000314126.3_Silent_p.S69S|AKAP1_ENST00000571629.1_Silent_p.S69S	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	69					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AAGTAGTGTCCACACCCCCCA	0.602																																						uc002iux.2		NA																	0				ovary(1)	1						c.(205-207)TCC>TCT		A-kinase anchor protein 1 precursor							66.0	62.0	63.0					17																	55183032		2203	4300	6503	SO:0001819	synonymous_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183032C>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.207C>T	17.37:g.55183032C>T						AKAP1_uc010wnl.1_Silent_p.S69S|AKAP1_uc002iuy.2_RNA|AKAP1_uc010dcm.2_Silent_p.S69S	p.S69S	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			2	438	+	Breast(9;5.46e-08)		69					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Silent	SNP	ENST00000337714.3	37	c.207C>T	CCDS11594.1																																																																																				0.602	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			10	45	0	0	0	0	10	45				
AXIN2	8313	broad.mit.edu	37	17	63533163	63533163	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:63533163G>A	ENST00000307078.5	-	7	2044	c.1731C>T	c.(1729-1731)acC>acT	p.T577T	AXIN2_ENST00000375702.5_Intron	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	577				Missing (in Ref. 2; AAF22799). {ECO:0000305}.	bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GTTTGGGCAAGGTACTGCCTC	0.652									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																													uc002jfi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1729-1731)ACC>ACT		axin 2							16.0	18.0	17.0					17																	63533163		2203	4297	6500	SO:0001819	synonymous_variant	8313	Oligodontia_Ectodermal_Dysplasia_and_Colorectal_Polyp_syndrome	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr17:63533163G>A	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000307078.5:c.1731C>T	17.37:g.63533163G>A						AXIN2_uc002jfh.2_Intron	p.T577T	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN			7	2020	-			577	Missing (in Ref. 2; AAF22799).				Q3MJ88|Q9H3M6|Q9UH84	Silent	SNP	ENST00000307078.5	37	c.1731C>T	CCDS11662.1																																																																																				0.652	AXIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445900.1	NM_004655		5	19	0	0	0	0	5	19				
GALR2	8811	broad.mit.edu	37	17	74071008	74071008	+	Missense_Mutation	SNP	C	C	T	rs535501064		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:74071008C>T	ENST00000329003.3	+	1	134	c.44C>T	c.(43-45)gCg>gTg	p.A15V	SRP68_ENST00000355113.5_5'Flank|SRP68_ENST00000307877.2_5'Flank|SRP68_ENST00000539137.1_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	15					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCGAGCCAGGCGGGCGGCGGG	0.741													C|||	1	0.000199681	0.0	0.0	5008	,	,		12486	0.0		0.001	False		,,,				2504	0.0					uc002jqm.1		NA																	0					0						c.(43-45)GCG>GTG		galanin receptor 2							8.0	8.0	8.0					17																	74071008		2100	4056	6156	SO:0001583	missense	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74071008C>T	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.44C>T	17.37:g.74071008C>T	ENSP00000329684:p.Ala15Val					SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank	p.A15V	NM_003857	NP_003848	O43603	GALR2_HUMAN			1	125	+			15			Extracellular (Potential).		A5JUU4|Q32MN8	Missense_Mutation	SNP	ENST00000329003.3	37	c.44C>T	CCDS11739.1	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698051	0.30142	.	.	ENSG00000182687	ENST00000329003	T	0.70516	-0.49	4.0	-1.04	0.10068	.	0.570794	0.15009	N	0.285666	T	0.53642	0.1809	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.35276	-0.9795	10	0.29301	T	0.29	.	7.309	0.26463	0.1264:0.6226:0.0:0.251	.	15	O43603	GALR2_HUMAN	V	15	ENSP00000329684:A15V	ENSP00000329684:A15V	A	+	2	0	GALR2	71582603	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.107000	0.01337	-0.253000	0.09514	-1.786000	0.00637	GCG		0.741	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			3	7	0	0	0	0	3	7				
DNAH17	8632	broad.mit.edu	37	17	76539977	76539977	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:76539977C>T	ENST00000585328.1	-	17	2618	c.2494G>A	c.(2494-2496)Gtc>Atc	p.V832I	DNAH17_ENST00000389840.5_Missense_Mutation_p.V832I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	832	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCATCCCTGACTGCTGCGTAG	0.498																																						uc002jvv.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(1600-1602)GTC>ATC		RecName: Full=Dynein heavy chain 17, axonemal; AltName: Full=Axonemal beta dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain 17; AltName: Full=Ciliary dynein heavy chain-like protein 1; AltName: Full=Axonemal dynein heavy chain-like protein 1; AltName: Full=Dynein light chain 2, axonemal;							259.0	248.0	251.0					17																	76539977		2203	4300	6503	SO:0001583	missense	8632							g.chr17:76539977C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2494G>A	17.37:g.76539977C>T	ENSP00000465516:p.Val832Ile						p.V534I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		13	1706	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1600G>A		.	.	.	.	.	.	.	.	.	.	c	0.148	-1.094697	0.01858	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.20881	2.04	5.02	5.02	0.67125	.	3.877990	0.00979	U	0.003342	T	0.12135	0.0295	N	0.02960	-0.455	0.29829	N	0.830185	B	0.18166	0.026	B	0.20955	0.032	T	0.19976	-1.0289	10	0.02654	T	1	.	15.2602	0.73615	0.0:1.0:0.0:0.0	.	534	Q9UFH2-4	.	I	832	ENSP00000374490:V832I	ENSP00000300671:V832I	V	-	1	0	DNAH17	74051572	0.802000	0.28943	0.912000	0.35992	0.003000	0.03518	1.173000	0.31920	2.320000	0.78422	0.551000	0.68910	GTC		0.498	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		28	196	0	0	0	0	28	196				
CCDC40	55036	broad.mit.edu	37	17	78023899	78023899	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:78023899G>A	ENST00000397545.4	+	7	1003	c.976G>A	c.(976-978)Gag>Aag	p.E326K	CCDC40_ENST00000374877.3_Missense_Mutation_p.E326K|CCDC40_ENST00000374876.4_Missense_Mutation_p.E326K|CCDC40_ENST00000269318.5_Missense_Mutation_p.E326K	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	326					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGCGGCAGGAGCTGGGGGT	0.622																																						uc010dht.2		NA																	0				ovary(3)	3						c.(976-978)GAG>AAG		coiled-coil domain containing 40							29.0	33.0	32.0					17																	78023899		2069	4204	6273	SO:0001583	missense	55036				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm		g.chr17:78023899G>A	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.976G>A	17.37:g.78023899G>A	ENSP00000380679:p.Glu326Lys					CCDC40_uc010wub.1_Missense_Mutation_p.E326K|CCDC40_uc002jxm.3_Missense_Mutation_p.E109K	p.E326K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)		7	1003	+	all_neural(118;0.167)		326					A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	c.976G>A	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710999	0.68730	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84660	0.64;-1.88;0.63;0.67	5.15	5.15	0.70609	.	.	.	.	.	D	0.90280	0.6960	M	0.64567	1.98	0.42037	D	0.991057	D;D;D	0.76494	0.999;0.978;0.987	D;P;P	0.72075	0.976;0.672;0.824	D	0.91024	0.4859	9	0.66056	D	0.02	-36.6625	12.9984	0.58662	0.0777:0.0:0.9223:0.0	.	326;326;109	Q4G0X9-5;Q4G0X9;Q4G0X9-3	.;CCD40_HUMAN;.	K	326	ENSP00000364011:E326K;ENSP00000269318:E326K;ENSP00000364010:E326K;ENSP00000380679:E326K	ENSP00000269318:E326K	E	+	1	0	CCDC40	75638494	1.000000	0.71417	1.000000	0.80357	0.819000	0.46315	3.195000	0.51013	2.385000	0.81259	0.655000	0.94253	GAG		0.622	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082		5	36	0	0	0	0	5	36				
SLC38A10	124565	broad.mit.edu	37	17	79226904	79226904	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr17:79226904C>T	ENST00000374759.3	-	12	1808	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	SLC38A10_ENST00000288439.5_Silent_p.P475P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	475					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTGCCTCCTCCGGTGCCTCCT	0.682											OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002jzz.1		NA																	0				pancreas(1)|skin(1)	2						c.(1423-1425)CCG>CCA		solute carrier family 38, member 10 isoform a							73.0	81.0	78.0					17																	79226904		2203	4300	6503	SO:0001819	synonymous_variant	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79226904C>T	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.1425G>A	17.37:g.79226904C>T			OREG0024813	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1189	SLC38A10_uc002jzy.1_Silent_p.P393P|SLC38A10_uc002kab.2_Silent_p.P475P	p.P475P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		12	1800	-	all_neural(118;0.0804)|Melanoma(429;0.242)		475					Q6ZRC5|Q8NA99|Q96C66	Silent	SNP	ENST00000374759.3	37	c.1425G>A	CCDS42397.1																																																																																				0.682	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	NM_138570		13	118	0	0	0	0	13	118				
CETN1	1068	broad.mit.edu	37	18	580651	580651	+	Silent	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cellular response to heat (GO:0034605)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|photoreceptor connecting cilium (GO:0032391)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537																																						uc002kko.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(241-243)ACG>ACT		centrin 1							73.0	64.0	67.0					18																	580651		2203	4300	6503	SO:0001819	synonymous_variant	1068				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding	g.chr18:580651G>T	U03270	CCDS11820.1	18p11.32	2013-01-10			ENSG00000177143	ENSG00000177143		"""EF-hand domain containing"""	1866	protein-coding gene	gene with protein product		603187		CETN		8175926	Standard	NM_004066		Approved	CEN1	uc002kko.1	Q12798	OTTHUMG00000131471	ENST00000327228.3:c.243G>T	18.37:g.580651G>T							p.T81T	NM_004066	NP_004057	Q12798	CETN1_HUMAN			1	285	+			81			EF-hand 2.		B2R536	Silent	SNP	ENST00000327228.3	37	c.243G>T	CCDS11820.1																																																																																				0.537	CETN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254314.2	NM_004066		5	52	1	0	3.6e-05	6.37e-05	5	52				
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C	rs562448650	byFrequency	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000400569.3_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		15502	0.0		0.0	False		,,,				2504	0.001					uc002klp.2		NA																	1	Substitution - coding silent(1)		kidney(1)	ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(607-609)ACA>ACG		myomesin 1 isoform a							299.0	284.0	289.0					18																	3188908		2069	4192	6261	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188908T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.609A>G	18.37:g.3188908T>C						MYOM1_uc002klq.2_Silent_p.T203T	p.T203T	NM_003803	NP_003794	P52179	MYOM1_HUMAN			4	943	-			203			4.|6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.609A>G	CCDS45824.1																																																																																				0.532	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		4	95	0	0	0	0	4	95				
KCTD1	284252	broad.mit.edu	37	18	24081097	24081097	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:24081097C>G	ENST00000408011.3	-	2	662	c.103G>C	c.(103-105)Gat>Cat	p.D35H	KCTD1_ENST00000417602.1_Missense_Mutation_p.D643H|KCTD1_ENST00000317932.7_Missense_Mutation_p.D35H|KCTD1_ENST00000579973.1_Missense_Mutation_p.D35H|KCTD1_ENST00000580059.1_Missense_Mutation_p.D35H	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	35	BTB.				negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCGCCCACATCAATGTGGACA	0.507																																						uc002kvw.2		NA																	0				ovary(1)	1						c.(103-105)GAT>CAT		potassium channel tetramerisation domain							230.0	198.0	209.0					18																	24081097		2203	4300	6503	SO:0001583	missense	284252				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity	g.chr18:24081097C>G	AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.103G>C	18.37:g.24081097C>G	ENSP00000384367:p.Asp35His					KCTD1_uc010xbj.1_Missense_Mutation_p.D643H|KCTD1_uc010xbk.1_Missense_Mutation_p.D35H	p.D35H	NM_001136205	NP_001129677	Q719H9	KCTD1_HUMAN	Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)		2	663	-	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		35			BTB.		A8K1F5	Missense_Mutation	SNP	ENST00000408011.3	37	c.103G>C	CCDS11888.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.765108	0.90020	.	.	ENSG00000134504	ENST00000317932;ENST00000417602;ENST00000408011	T;T;T	0.78364	-1.17;-1.17;-1.17	5.68	5.68	0.88126	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90235	0.6947	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91207	0.4996	10	0.87932	D	0	.	19.7951	0.96477	0.0:1.0:0.0:0.0	.	35	Q719H9	KCTD1_HUMAN	H	35;643;35	ENSP00000314831:D35H;ENSP00000408405:D643H;ENSP00000384367:D35H	ENSP00000314831:D35H	D	-	1	0	KCTD1	22335095	1.000000	0.71417	0.931000	0.37212	0.988000	0.76386	7.412000	0.80091	2.698000	0.92095	0.561000	0.74099	GAT		0.507	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091		6	109	0	0	0	0	6	109				
DSG1	1828	broad.mit.edu	37	18	28914090	28914090	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:28914090C>G	ENST00000257192.4	+	8	1142	c.930C>G	c.(928-930)atC>atG	p.I310M		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	310	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TTTTCTTTATCTCTGGAAATG	0.294																																						uc002kwp.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(928-930)ATC>ATG		desmoglein 1 preproprotein							66.0	75.0	72.0					18																	28914090		2202	4291	6493	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28914090C>G	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.930C>G	18.37:g.28914090C>G	ENSP00000257192:p.Ile310Met						p.I310M	NM_001942	NP_001933	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		8	1142	+			310			Extracellular (Potential).|Cadherin 3.		B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.930C>G	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.927313	0.52759	.	.	ENSG00000134760	ENST00000257192	T	0.53206	0.63	5.79	2.76	0.32466	Cadherin (4);Cadherin-like (1);	0.478278	0.20331	N	0.094426	T	0.59362	0.2188	M	0.82923	2.615	0.80722	D	1	P	0.44659	0.84	P	0.54590	0.756	T	0.61019	-0.7147	10	0.54805	T	0.06	.	4.9227	0.13878	0.1688:0.5412:0.2118:0.0783	.	310	Q02413	DSG1_HUMAN	M	310	ENSP00000257192:I310M	ENSP00000257192:I310M	I	+	3	3	DSG1	27168088	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.996000	0.29719	1.434000	0.47414	-0.175000	0.13238	ATC		0.294	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		9	71	0	0	0	0	9	71				
CDH20	28316	broad.mit.edu	37	18	59221475	59221475	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr18:59221475C>A	ENST00000262717.4	+	12	2351	c.1953C>A	c.(1951-1953)atC>atA	p.I651I	CDH20_ENST00000538374.1_Silent_p.I651I|CDH20_ENST00000536675.2_Silent_p.I651I			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	651					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AACCATACATCATCGACGACG	0.567																																						uc010dps.1		NA																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(1951-1953)ATC>ATA		cadherin 20, type 2 preproprotein							117.0	104.0	109.0					18																	59221475		2203	4300	6503	SO:0001819	synonymous_variant	28316				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:59221475C>A	AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.1953C>A	18.37:g.59221475C>A						CDH20_uc002lif.2_Silent_p.I645I	p.I651I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN			11	1965	+		Colorectal(73;0.186)	651			Cytoplasmic (Potential).		Q495S3	Silent	SNP	ENST00000262717.4	37	c.1953C>A	CCDS11977.1																																																																																				0.567	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256141.2	NM_031891		12	110	1	0	9.05e-12	1.64e-11	12	110				
AP3D1	8943	broad.mit.edu	37	19	2121736	2121736	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:2121736C>T	ENST00000345016.5	-	12	1329	c.1098G>A	c.(1096-1098)ggG>ggA	p.G366G	AP3D1_ENST00000355272.6_Silent_p.G366G|AP3D1_ENST00000590683.1_5'UTR|AP3D1_ENST00000356926.4_Silent_p.G275G|AP3D1_ENST00000350812.6_Silent_p.G197G	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	366					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGCACCATCCCATAGAGCA	0.637																																						uc002luz.2		NA																	0					0						c.(1096-1098)GGG>GGA		adaptor-related protein complex 3, delta 1							61.0	70.0	67.0					19																	2121736		2101	4209	6310	SO:0001819	synonymous_variant	8943				eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	g.chr19:2121736C>T	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.1098G>A	19.37:g.2121736C>T						AP3D1_uc002luy.2_Silent_p.G275G|AP3D1_uc002lva.2_Silent_p.G366G	p.G366G	NM_003938	NP_003929	O14617	AP3D1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1321	-		Hepatocellular(1079;0.137)	366			HEAT 7.		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Silent	SNP	ENST00000345016.5	37	c.1098G>A	CCDS42459.1																																																																																				0.637	AP3D1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450912.1			8	57	0	0	0	0	8	57				
ZNF440	126070	broad.mit.edu	37	19	11943309	11943309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:11943309C>T	ENST00000304060.5	+	4	1482	c.1318C>T	c.(1318-1320)Caa>Taa	p.Q440*		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q440*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAATAACCTTCAAAGTCATGA	0.398																																						uc002msp.1		NA																	1	Substitution - Nonsense(1)		upper_aerodigestive_tract(1)		0						c.(1318-1320)CAA>TAA		zinc finger protein 440							73.0	75.0	74.0					19																	11943309		2203	4300	6503	SO:0001587	stop_gained	126070				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11943309C>T	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.1318C>T	19.37:g.11943309C>T	ENSP00000305373:p.Gln440*						p.Q440*	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN			4	1474	+			440			C2H2-type 11.		Q8N1R9	Nonsense_Mutation	SNP	ENST00000304060.5	37	c.1318C>T	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	c	23.5	4.425573	0.83667	.	.	ENSG00000171295	ENST00000304060	.	.	.	1.18	1.18	0.20946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	6.6103	0.22747	0.0:0.4728:0.5272:0.0	.	.	.	.	X	440	.	ENSP00000305373:Q440X	Q	+	1	0	ZNF440	11804309	0.001000	0.12720	0.002000	0.10522	0.450000	0.32258	0.878000	0.28126	0.986000	0.38683	0.194000	0.17425	CAA		0.398	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357		8	51	0	0	0	0	8	51				
IL27RA	9466	broad.mit.edu	37	19	14161619	14161619	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:14161619C>A	ENST00000263379.2	+	11	1577	c.1452C>A	c.(1450-1452)ccC>ccA	p.P484P		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	484	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T-helper 1 type immune response (GO:0002827)|regulation of isotype switching to IgG isotypes (GO:0048302)	integral component of plasma membrane (GO:0005887)	interleukin-27 receptor activity (GO:0045509)|transmembrane signaling receptor activity (GO:0004888)			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTTGGGGTCCCTGTGAGCTGT	0.592																																					Colon(164;1849 1896 4443 37792 47834)	uc002mxx.2		NA																	0					0						c.(1450-1452)CCC>CCA		class I cytokine receptor precursor							113.0	83.0	94.0					19																	14161619		2203	4300	6503	SO:0001819	synonymous_variant	9466				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity	g.chr19:14161619C>A	AF053004	CCDS12303.1	19p13.11	2013-02-11				ENSG00000104998		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	17290	protein-coding gene	gene with protein product	"""T-cell cytokine receptor type 1"""	605350				9600072, 11057672	Standard	NM_004843		Approved	WSX-1, TCCR, CRL1, WSX1, zcytor1, IL-27R	uc002mxx.4	Q6UWB1		ENST00000263379.2:c.1452C>A	19.37:g.14161619C>A							p.P484P	NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN			11	1875	+			484			Extracellular (Potential).|Fibronectin type-III 3.		A0N0L1|O60624	Silent	SNP	ENST00000263379.2	37	c.1452C>A	CCDS12303.1																																																																																				0.592	IL27RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458539.1	NM_004843		4	33	1	0	0.000602214	0.00106133	4	33				
OR10H4	126541	broad.mit.edu	37	19	16060277	16060277	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:16060277T>G	ENST00000322107.1	+	1	460	c.460T>G	c.(460-462)Tca>Gca	p.S154A		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GGCTGGTGGCTCAGTCATGGG	0.512																																						uc010xov.1		NA																	0				ovary(1)|breast(1)	2						c.(460-462)TCA>GCA		olfactory receptor, family 10, subfamily H,							195.0	164.0	174.0					19																	16060277		2203	4300	6503	SO:0001583	missense	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060277T>G	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.460T>G	19.37:g.16060277T>G	ENSP00000318834:p.Ser154Ala						p.S154A	NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN			1	460	+			154			Helical; Name=4; (Potential).		Q6IFJ2|Q96R57	Missense_Mutation	SNP	ENST00000322107.1	37	c.460T>G	CCDS32941.1	.	.	.	.	.	.	.	.	.	.	t	17.59	3.426933	0.62733	.	.	ENSG00000176231	ENST00000322107	T	0.35789	1.29	1.53	-1.1	0.09872	GPCR, rhodopsin-like superfamily (1);	0.946828	0.08560	U	0.927682	T	0.34135	0.0887	L	0.28694	0.88	0.09310	N	1	P	0.40681	0.727	P	0.51415	0.669	T	0.35425	-0.9789	10	0.46703	T	0.11	.	4.7898	0.13243	0.4247:0.0:0.0:0.5753	.	154	Q8NGA5	O10H4_HUMAN	A	154	ENSP00000318834:S154A	ENSP00000318834:S154A	S	+	1	0	OR10H4	15921277	0.000000	0.05858	0.900000	0.35374	0.748000	0.42578	-1.146000	0.03191	-0.146000	0.11274	0.386000	0.25728	TCA		0.512	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1			20	112	0	0	0	0	20	112				
ZNF585B	92285	broad.mit.edu	37	19	37677063	37677063	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:37677063A>C	ENST00000532828.2	-	5	1627	c.1376T>G	c.(1375-1377)aTt>aGt	p.I459S	ZNF585B_ENST00000312908.5_Missense_Mutation_p.I47S|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.I404S	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCCTGTGTGAATTCGTTTATG	0.373																																					Melanoma(93;882 1454 18863 28917 48427)	uc002ofq.2		NA																	0				ovary(1)	1						c.(1375-1377)ATT>AGT		zinc finger protein 585B							119.0	118.0	119.0					19																	37677063		2203	4300	6503	SO:0001583	missense	92285				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37677063A>C	AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1376T>G	19.37:g.37677063A>C	ENSP00000433773:p.Ile459Ser					uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.I273S	p.I459S	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1630	-			459			C2H2-type 10.		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	c.1376T>G	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466685	0.26335	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.17691	2.26;3.24;3.24	2.35	1.21	0.21127	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.37955	N	0.001867	T	0.21186	0.0510	N	0.20483	0.58	0.31482	N	0.667105	B;D	0.69078	0.45;0.997	B;D	0.79108	0.114;0.992	T	0.10405	-1.0631	10	0.62326	D	0.03	.	7.2816	0.26314	0.7745:0.2255:0.0:0.0	.	404;459	E9PQH3;Q52M93	.;Z585B_HUMAN	S	404;459;47	ENSP00000436774:I404S;ENSP00000433773:I459S;ENSP00000442139:I47S	ENSP00000442139:I47S	I	-	2	0	ZNF585B	42368903	0.001000	0.12720	0.981000	0.43875	0.460000	0.32559	1.022000	0.30052	0.109000	0.17891	0.254000	0.18369	ATT		0.373	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		13	119	0	0	0	0	13	119				
LRFN1	57622	broad.mit.edu	37	19	39798886	39798886	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:39798886C>T	ENST00000248668.4	-	2	1702	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	568						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.R520L(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CTTGACGCGGCGGCTGTCCCC	0.682																																						uc002okw.2		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(2)	2						c.(1702-1704)CGC>CAC		leucine rich repeat and fibronectin type III							19.0	25.0	23.0					19																	39798886		2140	4255	6395	SO:0001583	missense	57622					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane		g.chr19:39798886C>T	BC014678	CCDS46071.1	19q13.2	2013-02-11				ENSG00000128011		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29290	protein-coding gene	gene with protein product		612807				10819331, 16828986	Standard	NM_020862		Approved	KIAA1484, SALM2	uc002okw.2	Q9P244		ENST00000248668.4:c.1703G>A	19.37:g.39798886C>T	ENSP00000248668:p.Arg568His						p.R568H	NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)		2	1703	-	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		568			Cytoplasmic (Potential).		Q8TBS9	Missense_Mutation	SNP	ENST00000248668.4	37	c.1703G>A	CCDS46071.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024275	0.35701	.	.	ENSG00000128011	ENST00000248668	T	0.61274	0.12	4.17	4.17	0.49024	.	0.442999	0.17230	N	0.181994	T	0.32912	0.0845	N	0.02539	-0.55	0.42024	D	0.990999	B	0.11235	0.004	B	0.01281	0.0	T	0.17745	-1.0359	10	0.39692	T	0.17	.	14.0383	0.64658	0.0:1.0:0.0:0.0	.	568	Q9P244	LRFN1_HUMAN	H	568	ENSP00000248668:R568H	ENSP00000248668:R568H	R	-	2	0	LRFN1	44490726	0.002000	0.14202	0.997000	0.53966	0.291000	0.27294	-0.012000	0.12699	2.176000	0.68965	0.462000	0.41574	CGC		0.682	LRFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463835.1	NM_020862		6	34	0	0	0	0	6	34				
SIGLEC12	89858	broad.mit.edu	37	19	52001378	52001378	+	Silent	SNP	C	C	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr19:52001378C>A	ENST00000291707.3	-	5	1354	c.1299G>T	c.(1297-1299)ctG>ctT	p.L433L	SIGLEC12_ENST00000598614.1_Silent_p.L315L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	433	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GCACTCGAGGCAGCTCCAGCA	0.607																																						uc002pwx.1		NA																	0				ovary(3)|skin(2)	5						c.(1297-1299)CTG>CTT		sialic acid binding immunoglobulin-like							54.0	52.0	52.0					19																	52001378		2203	4300	6503	SO:0001819	synonymous_variant	89858				cell adhesion	integral to membrane	sugar binding	g.chr19:52001378C>A	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1299G>T	19.37:g.52001378C>A						SIGLEC12_uc002pww.1_Silent_p.L315L|SIGLEC12_uc010eoy.1_Silent_p.L160L	p.L433L	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)	5	1355	-		all_neural(266;0.0199)	433			Ig-like C2-type 2.|Extracellular (Potential).		Q8IYH7	Silent	SNP	ENST00000291707.3	37	c.1299G>T	CCDS12833.1																																																																																				0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003		10	56	1	0	1.77e-08	3.18e-08	10	56				
GREB1	9687	broad.mit.edu	37	2	11758602	11758602	+	Missense_Mutation	SNP	G	G	A	rs368897613		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:11758602G>A	ENST00000381486.2	+	22	3901	c.3601G>A	c.(3601-3603)Gac>Aac	p.D1201N	GREB1_ENST00000234142.5_Missense_Mutation_p.D1201N|GREB1_ENST00000396123.1_Missense_Mutation_p.D199N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1201	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCCCCAGCCCGACTGTAGCCT	0.692																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NA																	0				ovary(1)	1						c.(3601-3603)GAC>AAC		growth regulation by estrogen in breast cancer 1		G	ASN/ASP	0,4174		0,0,2087	8.0	11.0	10.0		3601	4.1	0.0	2		10	1,8321		0,1,4160	no	missense	GREB1	NM_014668.3	23	0,1,6247	AA,AG,GG		0.012,0.0,0.0080	possibly-damaging	1201/1950	11758602	1,12495	2087	4161	6248	SO:0001583	missense	9687					integral to membrane		g.chr2:11758602G>A		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3601G>A	2.37:g.11758602G>A	ENSP00000370896:p.Asp1201Asn					GREB1_uc002rbp.1_Missense_Mutation_p.D199N	p.D1201N	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	3901	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1201			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3601G>A	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	12.52	1.962166	0.34659	0.0	1.2E-4	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.22743	3.26;3.26;1.94	4.08	4.08	0.47627	.	2.859580	0.00567	N	0.000285	T	0.23370	0.0565	L	0.40543	1.245	0.21445	N	0.999682	P	0.44946	0.846	B	0.36504	0.226	T	0.48703	-0.9012	10	0.45353	T	0.12	-21.7589	14.8484	0.70277	0.0:0.0:1.0:0.0	.	1201	Q4ZG55	GREB1_HUMAN	N	1201;1201;199	ENSP00000370896:D1201N;ENSP00000234142:D1201N;ENSP00000379429:D199N	ENSP00000234142:D1201N	D	+	1	0	GREB1	11676053	0.698000	0.27777	0.017000	0.16124	0.051000	0.14879	3.522000	0.53480	1.845000	0.53610	0.643000	0.83706	GAC		0.692	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		8	18	0	0	0	0	8	18				
DNMT3A	1788	broad.mit.edu	37	2	25468900	25468900	+	Missense_Mutation	SNP	C	C	T	rs566390868		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:25468900C>T	ENST00000264709.3	-	12	1800	c.1463G>A	c.(1462-1464)cGg>cAg	p.R488Q	DNMT3A_ENST00000474887.1_5'Flank|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R265Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R488Q|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R299Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	488	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCAATGTTCCGGCACTTCTG	0.602			"""Mis, F, N, S"""		AML								C|||	1	0.000199681	0.0008	0.0	5008	,	,		18433	0.0		0.0	False		,,,				2504	0.0					uc002rgc.2		NA		Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0		p.R488fs?(1)		haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(1462-1464)CGG>CAG		DNA cytosine methyltransferase 3 alpha isoform							121.0	93.0	103.0					2																	25468900		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25468900C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1463G>A	2.37:g.25468900C>T	ENSP00000264709:p.Arg488Gln					DNMT3A_uc002rgd.2_Missense_Mutation_p.R488Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R299Q	p.R488Q	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			12	1720	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		488			ADD.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.1463G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	19.91	3.914134	0.72983	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.55	4.66	0.58398	.	0.058952	0.64402	D	0.000015	T	0.22399	0.0540	L	0.36672	1.1	0.80722	D	1	B;B	0.26672	0.156;0.034	B;B	0.10450	0.005;0.001	T	0.03296	-1.1051	10	0.33141	T	0.24	-9.0801	11.4283	0.50025	0.0:0.9139:0.0:0.0861	.	488;299	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	299;488;488;265	ENSP00000370122:R299Q;ENSP00000324375:R488Q;ENSP00000264709:R488Q;ENSP00000384237:R265Q	ENSP00000264709:R488Q	R	-	2	0	DNMT3A	25322404	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.367000	0.79558	2.608000	0.88229	0.643000	0.83706	CGG		0.602	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		10	67	0	0	0	0	10	67				
CAPN13	92291	broad.mit.edu	37	2	30961324	30961324	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:30961324C>T	ENST00000295055.8	-	16	1713		c.e16-1		CAPN13_ENST00000534090.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTCCAGCCTCTGATCCAAAC	0.527																																						uc002rnn.2		NA																	0				large_intestine(1)|ovary(1)	2						c.e15-1		calpain 13							67.0	72.0	70.0					2																	30961324		2005	4172	6177	SO:0001630	splice_region_variant	92291				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr2:30961324C>T		CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.1537-1G>A	2.37:g.30961324C>T						CAPN13_uc002rnm.2_Splice_Site	p.R513_splice	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN			15	1713	-	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)							Q17RF0|Q580X1|Q8TE80	Splice_Site	SNP	ENST00000295055.8	37	c.1537_splice	CCDS46252.1	.	.	.	.	.	.	.	.	.	.	C	12.88	2.071275	0.36566	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7938	0.69863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CAPN13	30814828	0.998000	0.40836	0.667000	0.29798	0.014000	0.08584	4.123000	0.57917	2.232000	0.73038	0.455000	0.32223	.		0.527	CAPN13-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325101.2	NM_144575	Intron	3	16	0	0	0	0	3	16				
SRSF7	6432	broad.mit.edu	37	2	38976747	38976747	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:38976747C>T	ENST00000313117.6	-	3	547	c.310G>A	c.(310-312)Gat>Aat	p.D104N	SRSF7_ENST00000446327.2_Missense_Mutation_p.D104N|SRSF7_ENST00000409276.1_Missense_Mutation_p.D104N|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	104					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TAGCATCTATCATTTGGATCA	0.463																																						uc002rqz.2		NA																	0					0						c.(310-312)GAT>AAT		splicing factor, arginine/serine-rich 7							138.0	131.0	133.0					2																	38976747		2203	4300	6503	SO:0001583	missense	6432				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr2:38976747C>T	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.310G>A	2.37:g.38976747C>T	ENSP00000325905:p.Asp104Asn					SFRS7_uc002rra.2_RNA|SFRS7_uc010ynp.1_Missense_Mutation_p.D104N|GEMIN6_uc002rrb.2_5'Flank	p.D104N	NM_001031684	NP_001026854	Q16629	SRSF7_HUMAN			3	548	-		all_hematologic(82;0.248)	104			CCHC-type.		B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	37	c.310G>A	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	C	31	5.063990	0.93898	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.77358	-1.09;-1.09;-1.09	5.93	5.93	0.95920	Zinc finger, CCHC retroviral-type (1);	0.000000	0.85682	D	0.000000	D	0.89188	0.6644	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.74023	0.982;0.958	D	0.89037	0.3446	10	0.62326	D	0.03	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	104;104	G5E9M3;Q16629	.;SRSF7_HUMAN	N	104	ENSP00000325905:D104N;ENSP00000402264:D104N;ENSP00000386806:D104N	ENSP00000325905:D104N	D	-	1	0	SRSF7	38830251	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.465000	0.80898	2.805000	0.96524	0.655000	0.94253	GAT		0.463	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684		13	54	0	0	0	0	13	54				
FBXO11	80204	broad.mit.edu	37	2	48035487	48035487	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:48035487C>G	ENST00000403359.3	-	22	2707	c.2635G>C	c.(2635-2637)Gag>Cag	p.E879Q	FBXO11_ENST00000405808.1_Missense_Mutation_p.E33Q|FBXO11_ENST00000434523.2_Missense_Mutation_p.E303Q|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000316377.4_Missense_Mutation_p.E795Q|FBXO11_ENST00000402508.1_Missense_Mutation_p.E795Q	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	879					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CTAATAAACTCTACATCATGT	0.353			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NA		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(2383-2385)GAG>CAG		F-box only protein 11 isoform 1							149.0	133.0	139.0					2																	48035487		2203	4300	6503	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48035487C>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2635G>C	2.37:g.48035487C>G	ENSP00000384823:p.Glu879Gln					FBXO11_uc002rwe.2_Missense_Mutation_p.E795Q|FBXO11_uc010fbk.2_Missense_Mutation_p.E303Q	p.E795Q	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		22	2497	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	879			UBR-type.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2383G>C	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894494	0.33442	.	.	ENSG00000138081	ENST00000405808;ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91133	0.7208	M	0.86864	2.845	0.80722	D	1	P	0.43431	0.807	P	0.53518	0.728	D	0.91255	0.5032	10	0.62326	D	0.03	-14.899	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303	B3KUR1	.	Q	33;795;879;795;303	ENSP00000385127:E33Q;ENSP00000385398:E795Q;ENSP00000384823:E879Q;ENSP00000323822:E795Q;ENSP00000397359:E303Q	ENSP00000323822:E795Q	E	-	1	0	FBXO11	47888991	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.750000	0.85110	2.857000	0.98124	0.650000	0.86243	GAG		0.353	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	56	0	0	0	0	5	56				
CCT4	10575	broad.mit.edu	37	2	62099641	62099641	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:62099641C>T	ENST00000394440.3	-	11	1504	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CCT4_ENST00000538252.1_Missense_Mutation_p.R347H|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000544079.1_Missense_Mutation_p.R373H|CCT4_ENST00000544185.1_Missense_Mutation_p.R253H|AC107081.5_ENST00000425779.1_RNA	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	403					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATGAATGGAGCGCTCAGCTTC	0.363																																						uc002sbo.2		NA																	0				ovary(2)	2						c.(1207-1209)CGC>CAC		chaperonin containing TCP1, subunit 4 (delta)							77.0	72.0	73.0					2																	62099641		2203	4300	6503	SO:0001583	missense	10575				'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding	g.chr2:62099641C>T		CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1208G>A	2.37:g.62099641C>T	ENSP00000377958:p.Arg403His					CCT4_uc010ypp.1_Missense_Mutation_p.R347H|CCT4_uc010ypq.1_Missense_Mutation_p.R253H|CCT4_uc010ypr.1_Missense_Mutation_p.R347H|CCT4_uc010yps.1_Missense_Mutation_p.R373H	p.R403H	NM_006430	NP_006421	P50991	TCPD_HUMAN	LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)		11	1357	-	Lung NSC(7;0.035)|all_lung(7;0.0691)		403					B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	ENST00000394440.3	37	c.1208G>A	CCDS33206.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384245	0.95967	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.97785	0.9273	H	0.99286	4.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.98710	1.0704	10	0.87932	D	0	-5.0582	19.973	0.97292	0.0:1.0:0.0:0.0	.	373;403	F5H5W3;P50991	.;TCPD_HUMAN	H	403;373;253;347	ENSP00000377958:R403H;ENSP00000443061:R373H;ENSP00000443451:R253H;ENSP00000442174:R347H	ENSP00000377958:R403H	R	-	2	0	CCT4	61953145	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	7.747000	0.85070	2.885000	0.99019	0.655000	0.94253	CGC		0.363	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325548.2			7	41	0	0	0	0	7	41				
TMEM127	55654	broad.mit.edu	37	2	96933588	96933588	+	5'Flank	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:96933588G>A	ENST00000258439.3	-	0	0				TMEM127_ENST00000432959.1_5'Flank|CIAO1_ENST00000488633.1_Missense_Mutation_p.E139K	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127						negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						TGAAGAGGATGAGTATGAATG	0.537																																						uc002svs.2		NA																	0					0						c.(415-417)GAG>AAG		WD repeat domain 39							75.0	67.0	70.0					2																	96933588		2203	4300	6503	SO:0001631	upstream_gene_variant	9391				chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding	g.chr2:96933588G>A	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454		2.37:g.96933588G>A	Exception_encountered					TMEM127_uc002svq.2_5'Flank|TMEM127_uc002svr.2_5'Flank	p.E139K	NM_004804	NP_004795	O76071	CIAO1_HUMAN			4	620	+			139			WD 3.		D3DXH0	Missense_Mutation	SNP	ENST00000258439.3	37	c.415G>A	CCDS2018.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.682817	0.88542	.	.	ENSG00000144021	ENST00000488633	T	0.65364	-0.15	5.79	5.79	0.91817	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046779	0.85682	D	0.000000	T	0.53867	0.1823	L	0.39397	1.21	0.80722	D	1	P	0.39311	0.667	B	0.33690	0.168	T	0.57499	-0.7801	10	0.49607	T	0.09	-35.7383	17.535	0.87827	0.0:0.0:1.0:0.0	.	139	O76071	CIAO1_HUMAN	K	139	ENSP00000418287:E139K	ENSP00000418287:E139K	E	+	1	0	CIAO1	96297315	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.368000	0.97152	2.739000	0.93911	0.655000	0.94253	GAG		0.537	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		5	64	0	0	0	0	5	64				
RGPD3	653489	broad.mit.edu	37	2	107032306	107032306	+	Splice_Site	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:107032306C>T	ENST00000409886.3	-	21	5151	c.5064G>A	c.(5062-5064)aaG>aaA	p.K1688K	RGPD3_ENST00000304514.7_Splice_Site_p.K1688K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1688					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTGATCTCACCTTAATTTGCT	0.438																																						uc010ywi.1		NA																	0				ovary(1)	1						c.(5062-5064)AAG>AAA		RANBP2-like and GRIP domain containing 3							73.0	66.0	68.0					2																	107032306		692	1585	2277	SO:0001630	splice_region_variant	653489				intracellular transport		binding	g.chr2:107032306C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.5064+1G>A	2.37:g.107032306C>T							p.K1688K	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			21	5121	-			1688					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.5064G>A	CCDS46379.1																																																																																				0.438	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931	Silent	17	179	0	0	0	0	17	179				
ANAPC1	64682	broad.mit.edu	37	2	112608430	112608430	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:112608430T>C	ENST00000341068.3	-	14	2345	c.1573A>G	c.(1573-1575)Atg>Gtg	p.M525V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	525					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCCGAGGCATTGTGTTGGAC	0.438																																						uc002thi.2		NA																	0				skin(2)	2						c.(1573-1575)ATG>GTG		anaphase promoting complex subunit 1							65.0	65.0	65.0					2																	112608430		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608430T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1573A>G	2.37:g.112608430T>C	ENSP00000339109:p.Met525Val						p.M525V	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1820	-			525					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1573A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.803|7.803	0.714007|0.714007	0.15306|0.15306	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.42|3.42	0.39159|0.39159	.|.	0.221034|.	0.28109|.	U|.	0.016579|.	T|T	0.45054|0.45054	0.1323|0.1323	L|L	0.43152|0.43152	1.355|1.355	0.31835|0.31835	N|N	0.624252|0.624252	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.50558|0.50558	-0.8814|-0.8814	9|5	0.22706|.	T|.	0.39|.	-6.4907|-6.4907	9.8736|9.8736	0.41189|0.41189	0.0:0.0821:0.0:0.9179|0.0:0.0821:0.0:0.9179	.|.	525|.	Q9H1A4|.	APC1_HUMAN|.	V|S	525|59	.|.	ENSP00000339109:M525V|.	M|N	-|-	1|2	0|0	ANAPC1|ANAPC1	112324901|112324901	0.999000|0.999000	0.42202|0.42202	0.773000|0.773000	0.31616|0.31616	0.947000|0.947000	0.59692|0.59692	3.446000|3.446000	0.52928|0.52928	0.621000|0.621000	0.30232|0.30232	0.369000|0.369000	0.22263|0.22263	ATG|AAT		0.438	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		8	33	0	0	0	0	8	33				
GLI2	2736	broad.mit.edu	37	2	121748215	121748215	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:121748215C>T	ENST00000452319.1	+	14	4785	c.4725C>T	c.(4723-4725)ctC>ctT	p.L1575L	GLI2_ENST00000361492.4_Silent_p.L1575L					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TCACCAGCCTCGCCGAGGAGA	0.647																																						uc010flp.2		NA																	0				ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1)	13						c.(4723-4725)CTC>CTT		GLI-Kruppel family member GLI2							59.0	64.0	62.0					2																	121748215		2203	4300	6503	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121748215C>T		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4725C>T	2.37:g.121748215C>T						GLI2_uc002tmq.1_3'UTR|GLI2_uc002tmr.1_3'UTR|GLI2_uc002tmt.3_Silent_p.L1247L|GLI2_uc002tmu.3_Silent_p.L1230L	p.L1575L	NM_005270	NP_005261	P10070	GLI2_HUMAN			13	4755	+	Renal(3;0.0496)	Prostate(154;0.0623)	1575						Silent	SNP	ENST00000452319.1	37	c.4725C>T	CCDS33283.1																																																																																				0.647	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		14	104	0	0	0	0	14	104				
MAP3K19	80122	broad.mit.edu	37	2	135744823	135744823	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:135744823G>A	ENST00000375845.3	-	7	1649	c.1619C>T	c.(1618-1620)tCa>tTa	p.S540L	MAP3K19_ENST00000392915.1_Missense_Mutation_p.S557L|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.S427L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	540							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CTTGGTCTTTGAATCCAACTT	0.368																																						uc002tue.1		NA																	0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(1618-1620)TCA>TTA		Yeast Sps1/Ste20-related kinase 4 isoform 1							158.0	157.0	157.0					2																	135744823		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135744823G>A	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1619C>T	2.37:g.135744823G>A	ENSP00000365005:p.Ser540Leu					YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S427L|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.3_Missense_Mutation_p.S268L|YSK4_uc002tui.3_Missense_Mutation_p.S557L	p.S540L	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	7	1650	-			540					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1619C>T	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881883	0.33255	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.74315	-0.83;-0.8;1.5	4.98	4.1	0.47936	.	0.177489	0.27478	N	0.019182	T	0.64951	0.2645	L	0.46157	1.445	0.80722	D	1	B;B;B	0.23249	0.082;0.082;0.049	B;B;B	0.22386	0.039;0.039;0.018	T	0.64457	-0.6403	10	0.87932	D	0	.	6.6605	0.23011	0.1569:0.1479:0.6952:0.0	.	427;557;540	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	540;427;557	ENSP00000365005:S540L;ENSP00000351140:S427L;ENSP00000376647:S557L	ENSP00000351140:S427L	S	-	2	0	YSK4	135461293	1.000000	0.71417	0.981000	0.43875	0.094000	0.18550	1.966000	0.40481	1.312000	0.45043	0.655000	0.94253	TCA		0.368	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		9	79	0	0	0	0	9	79				
LRP2	4036	broad.mit.edu	37	2	170050337	170050337	+	Missense_Mutation	SNP	C	C	T	rs370790771		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:170050337C>T	ENST00000263816.3	-	47	9049	c.8764G>A	c.(8764-8766)Gaa>Aaa	p.E2922K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2922	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CAGATCCATTCGCTTGGGATG	0.458																																						uc002ues.2		NA																	0				ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8764-8766)GAA>AAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	C	LYS/GLU	0,4406		0,0,2203	237.0	202.0	213.0		8764	-1.8	0.0	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	2922/4656	170050337	1,13005	2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170050337C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8764G>A	2.37:g.170050337C>T	ENSP00000263816:p.Glu2922Lys						p.E2922K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	47	8977	-			2922			LDL-receptor class A 21.|Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.8764G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	9.150	1.016006	0.19355	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.95205	-3.64	5.86	-1.79	0.07932	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	2.198470	0.01265	N	0.009298	D	0.84365	0.5456	N	0.16708	0.43	0.09310	N	1	P	0.34977	0.478	B	0.29942	0.109	T	0.79813	-0.1645	10	0.06625	T	0.88	.	1.9488	0.03362	0.2461:0.1203:0.1231:0.5106	.	2922	P98164	LRP2_HUMAN	K	2922	ENSP00000263816:E2922K	ENSP00000263816:E2922K	E	-	1	0	LRP2	169758583	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	0.296000	0.19083	-0.414000	0.07495	-0.176000	0.13171	GAA		0.458	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		18	73	0	0	0	0	18	73				
PLEKHA3	65977	broad.mit.edu	37	2	179360322	179360322	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179360322G>C	ENST00000234453.5	+	5	952	c.550G>C	c.(550-552)Gag>Cag	p.E184Q		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	184						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			GTTTAAACCTGAGATGTTTCA	0.428																																						uc002umn.2		NA																	0				ovary(1)|kidney(1)	2						c.(550-552)GAG>CAG		pleckstrin homology domain containing, family A							199.0	174.0	182.0					2																	179360322		2203	4300	6503	SO:0001583	missense	65977					cytoplasm|membrane		g.chr2:179360322G>C	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.550G>C	2.37:g.179360322G>C	ENSP00000234453:p.Glu184Gln						p.E184Q	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		5	948	+			184					Q4ZG69|Q86TQ1|Q9NXT3	Missense_Mutation	SNP	ENST00000234453.5	37	c.550G>C	CCDS33336.1	.	.	.	.	.	.	.	.	.	.	G	19.01	3.743944	0.69418	.	.	ENSG00000116095	ENST00000234453	T	0.13538	2.58	5.44	5.44	0.79542	.	0.409080	0.30126	N	0.010349	T	0.11110	0.0271	N	0.12961	0.28	0.52099	D	0.99994	B	0.24483	0.104	B	0.25291	0.059	T	0.21861	-1.0233	10	0.31617	T	0.26	18.4024	19.6207	0.95654	0.0:0.0:1.0:0.0	.	184	Q9HB20	PKHA3_HUMAN	Q	184	ENSP00000234453:E184Q	ENSP00000234453:E184Q	E	+	1	0	PLEKHA3	179068568	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.672000	0.98629	2.707000	0.92482	0.563000	0.77884	GAG		0.428	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		18	121	0	0	0	0	18	121				
TTN	7273	broad.mit.edu	37	2	179481235	179481235	+	Nonsense_Mutation	SNP	G	G	A	rs374140736		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:179481235G>A	ENST00000591111.1	-	207	43584	c.43360C>T	c.(43360-43362)Cga>Tga	p.R14454*	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7222*|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7155*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7030*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R13527*|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R16095*|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14454	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACTTCTCGTTTTTCAACA	0.433																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(40579-40581)CGA>TGA		titin isoform N2-A		G	stop/ARG,stop/ARG,stop/ARG,stop/ARG	1,3873		0,1,1936	191.0	177.0	182.0		21088,40579,21463,21664	3.9	1.0	2		182	0,8296		0,0,4148	no	stop-gained,stop-gained,stop-gained,stop-gained	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,6084	AA,AG,GG		0.0,0.0258,0.0082	,,,	7030/26927,13527/33424,7155/27052,7222/27119	179481235	1,12169	1937	4148	6085	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179481235G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43360C>T	2.37:g.179481235G>A	ENSP00000465570:p.Arg14454*					TTN_uc010zfh.1_Nonsense_Mutation_p.R7222*|TTN_uc010zfi.1_Nonsense_Mutation_p.R7155*|TTN_uc010zfj.1_Nonsense_Mutation_p.R7030*	p.R13527*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		206	40803	-			14454					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.40579C>T		.	.	.	.	.	.	.	.	.	.	G	59	35.007086	0.99982	2.58E-4	0.0	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.91	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	8.9977	0.36063	0.0696:0.0:0.607:0.3234	.	.	.	.	X	13527;7030;7222;7155;7030	.	ENSP00000340554:R7222X	R	-	1	2	TTN	179189480	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.868000	0.56055	0.613000	0.30089	0.655000	0.94253	CGA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		38	115	0	0	0	0	38	115				
STRADB	55437	broad.mit.edu	37	2	202337702	202337702	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202337702C>T	ENST00000194530.3	+	5	583	c.218C>T	c.(217-219)tCt>tTt	p.S73F	STRADB_ENST00000392249.2_Missense_Mutation_p.S73F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	73	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AACTTGACTTCTGTCCATCTT	0.358																																						uc002uyd.3		NA																	0				skin(2)|stomach(1)|lung(1)	4						c.(217-219)TCT>TTT		STE20-related kinase adaptor beta							128.0	124.0	125.0					2																	202337702		2203	4300	6503	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202337702C>T	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.218C>T	2.37:g.202337702C>T	ENSP00000194530:p.Ser73Phe						p.S73F	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			5	583	+			73			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.218C>T	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005184	0.74932	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249	T;T;T	0.67698	-0.28;-0.28;-0.28	5.36	4.48	0.54585	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.310331	0.37053	N	0.002274	T	0.71298	0.3323	M	0.64997	1.995	0.41886	D	0.990342	P	0.35107	0.484	P	0.44518	0.452	T	0.75102	-0.3436	10	0.87932	D	0	.	14.0994	0.65044	0.0:0.9273:0.0:0.0727	.	73	Q9C0K7	STRAB_HUMAN	F	18;73;73;73	ENSP00000409552:S18F;ENSP00000194530:S73F;ENSP00000376080:S73F	ENSP00000194530:S73F	S	+	2	0	STRADB	202045947	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.539000	0.53604	1.388000	0.46506	0.563000	0.77884	TCT		0.358	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		10	79	0	0	0	0	10	79				
PTH2R	5746	broad.mit.edu	37	2	209308254	209308254	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:209308254T>C	ENST00000272847.2	+	6	904	c.691T>C	c.(691-693)Tca>Cca	p.S231P	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	231					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	TGTGGACAAATCACAATATGT	0.363																																						uc002vdb.2		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(691-693)TCA>CCA		parathyroid hormone 2 receptor precursor							140.0	133.0	135.0					2																	209308254		2203	4300	6503	SO:0001583	missense	5746					integral to plasma membrane	parathyroid hormone receptor activity	g.chr2:209308254T>C	BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.691T>C	2.37:g.209308254T>C	ENSP00000272847:p.Ser231Pro					PTH2R_uc010zjb.1_Missense_Mutation_p.S242P	p.S231P	NM_005048	NP_005039	P49190	PTH2R_HUMAN		Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	6	904	+			231			Extracellular (Potential).		Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	c.691T>C	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	T	11.15	1.553661	0.27739	.	.	ENSG00000144407	ENST00000272847	T	0.54866	0.55	5.4	5.4	0.78164	GPCR, family 2-like (1);	0.000000	0.32301	N	0.006294	T	0.50343	0.1610	L	0.53249	1.67	0.44562	D	0.997526	B;B	0.21452	0.056;0.056	B;B	0.27715	0.056;0.082	T	0.48317	-0.9046	10	0.42905	T	0.14	.	13.3679	0.60696	0.0:0.0:0.0:1.0	.	120;231	B4DFN8;P49190	.;PTH2R_HUMAN	P	231	ENSP00000272847:S231P	ENSP00000272847:S231P	S	+	1	0	PTH2R	209016499	0.992000	0.36948	0.969000	0.41365	0.303000	0.27691	2.682000	0.46934	2.049000	0.60858	0.477000	0.44152	TCA		0.363	PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048		5	50	0	0	0	0	5	50				
MARCH4	57574	broad.mit.edu	37	2	217124235	217124235	+	Missense_Mutation	SNP	G	G	A	rs376198495		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:217124235G>A	ENST00000273067.4	-	4	2799	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	AC012513.6_ENST00000417481.1_RNA	NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	345						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCCGAGGAGGGGATATTGGCC	0.632																																						uc002vgb.2		NA																	0				ovary(1)	1						c.(1033-1035)CCC>TCC		membrane-associated ring finger (C3HC4) 4							65.0	62.0	63.0					2																	217124235		2203	4300	6503	SO:0001583	missense	57574					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:217124235G>A	AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.1033C>T	2.37:g.217124235G>A	ENSP00000273067:p.Pro345Ser						p.P345S	NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)	4	2800	-		Renal(323;0.0854)	345					Q4KMN7|Q86WR8	Missense_Mutation	SNP	ENST00000273067.4	37	c.1033C>T	CCDS33376.1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.677007	0.29783	.	.	ENSG00000144583	ENST00000273067	T	0.13538	2.58	5.62	3.73	0.42828	.	0.741980	0.12905	N	0.429476	T	0.05273	0.0140	N	0.05031	-0.125	0.32483	N	0.541222	B	0.06786	0.001	B	0.06405	0.002	T	0.27806	-1.0063	10	0.19590	T	0.45	-17.3428	3.078	0.06253	0.1444:0.1562:0.5393:0.1601	.	345	Q9P2E8	MARH4_HUMAN	S	345	ENSP00000273067:P345S	ENSP00000273067:P345S	P	-	1	0	MARCH4	216832480	0.973000	0.33851	0.052000	0.19188	0.513000	0.34164	2.416000	0.44644	2.648000	0.89879	0.561000	0.74099	CCC		0.632	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337272.2	NM_020814		5	29	0	0	0	0	5	29				
BCS1L	617	broad.mit.edu	37	2	219527683	219527683	+	Missense_Mutation	SNP	G	G	A	rs372817977		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:219527683G>A	ENST00000431802.1	+	7	1666	c.967G>A	c.(967-969)Gag>Aag	p.E323K	BCS1L_ENST00000359273.3_Missense_Mutation_p.E323K|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000412366.1_Missense_Mutation_p.E323K|BCS1L_ENST00000439945.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392111.2_Missense_Mutation_p.E323K|BCS1L_ENST00000392109.1_Missense_Mutation_p.E323K|BCS1L_ENST00000392110.2_Missense_Mutation_p.E323K			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	323					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCTTCCACCGAGGCCCGCAT	0.567																																						uc002vio.2		NA																	0					0						c.(967-969)GAG>AAG		BCS1-like		G	LYS/GLU,LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	115.0	101.0	106.0		967,967	4.9	1.0	2		106	0,8600		0,0,4300	no	missense,missense	BCS1L	NM_001079866.1,NM_004328.4	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	323/420,323/420	219527683	1,13005	2203	4300	6503	SO:0001583	missense	617				mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr2:219527683G>A	AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.967G>A	2.37:g.219527683G>A	ENSP00000413908:p.Glu323Lys					BCS1L_uc002vip.2_Missense_Mutation_p.E323K|BCS1L_uc002viq.2_Missense_Mutation_p.E323K|BCS1L_uc010fvu.2_Missense_Mutation_p.E323K|BCS1L_uc010fvv.2_Missense_Mutation_p.E323K|BCS1L_uc002vir.2_Missense_Mutation_p.E323K|BCS1L_uc002vis.2_Missense_Mutation_p.E323K	p.E323K	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1385	+		Renal(207;0.0474)	323			Mitochondrial matrix (Potential).		B3KTW9|Q7Z2V7	Missense_Mutation	SNP	ENST00000431802.1	37	c.967G>A	CCDS2419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.663111|4.663111	0.88251|0.88251	2.27E-4|2.27E-4	0.0|0.0	ENSG00000074582|ENSG00000074582	ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802|ENST00000426649	D;D;D;D;D;D;D|.	0.93811|.	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29|.	4.94|4.94	4.94|4.94	0.65067|0.65067	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75213|0.75213	0.3819|0.3819	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70487|.	0.969|.	T|T	0.74662|0.74662	-0.3590|-0.3590	10|5	0.87932|.	D|.	0|.	-14.2648|-14.2648	18.357|18.357	0.90361|0.90361	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	323|.	Q9Y276|.	BCS1_HUMAN|.	K|Q	323|104	ENSP00000352219:E323K;ENSP00000375957:E323K;ENSP00000375958:E323K;ENSP00000375959:E323K;ENSP00000406494:E323K;ENSP00000404999:E323K;ENSP00000413908:E323K|.	ENSP00000352219:E323K|.	E|R	+|+	1|2	0|0	BCS1L|BCS1L	219235927|219235927	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.321000|0.321000	0.28281|0.28281	9.612000|9.612000	0.98347|0.98347	2.560000|2.560000	0.86352|0.86352	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.567	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336756.1	NM_004328		14	100	0	0	0	0	14	100				
ISM1	140862	broad.mit.edu	37	20	13280034	13280034	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr20:13280034C>T	ENST00000262487.4	+	6	1329	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	441	AMOP. {ECO:0000255|PROSITE- ProRule:PRU00347}.					extracellular region (GO:0005576)				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CTCCCAACAACGGACAGAAGT	0.577																																						uc010gce.1		NA																	0					0						c.(1321-1323)AAC>AAT		isthmin 1 homolog precursor							64.0	71.0	68.0					20																	13280034		2064	4202	6266	SO:0001819	synonymous_variant	140862					extracellular region		g.chr20:13280034C>T	AL133463	CCDS46579.1	20p12.1	2013-05-15	2013-05-15	2008-12-23	ENSG00000101230	ENSG00000101230			16213	protein-coding gene	gene with protein product		615793	"""chromosome 20 open reading frame 82"", ""isthmin 1 homolog (zebrafish)"""	C20orf82			Standard	NM_080826		Approved	bA149I18.1	uc010gce.1	B1AKI9		ENST00000262487.4:c.1323C>T	20.37:g.13280034C>T						TASP1_uc010zri.1_Intron	p.N441N	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN			6	1329	+			441			AMOP.		Q8WVH9	Silent	SNP	ENST00000262487.4	37	c.1323C>T	CCDS46579.1																																																																																				0.577	ISM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078039.2			10	52	0	0	0	0	10	52				
CHAF1B	8208	broad.mit.edu	37	21	37788639	37788639	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:37788639G>A	ENST00000314103.5	+	14	1806	c.1655G>A	c.(1654-1656)gGa>gAa	p.G552E		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	552					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAAACAAAGGAGGCACGGAA	0.567																																						uc002yvj.2		NA																	0				ovary(1)|skin(1)	2						c.(1654-1656)GGA>GAA		chromatin assembly factor 1 subunit B							59.0	58.0	58.0					21																	37788639		2203	4300	6503	SO:0001583	missense	8208				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	g.chr21:37788639G>A	U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.1655G>A	21.37:g.37788639G>A	ENSP00000315700:p.Gly552Glu						p.G552E	NM_005441	NP_005432	Q13112	CAF1B_HUMAN			14	1793	+			552					Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	c.1655G>A	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.359792	0.24598	.	.	ENSG00000159259	ENST00000314103	T	0.39997	1.05	4.76	0.46	0.16684	.	1.215840	0.05598	N	0.575791	T	0.22166	0.0534	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.19943	-1.0290	10	0.37606	T	0.19	-4.037	4.7398	0.13007	0.2027:0.3374:0.4599:0.0	.	552	Q13112	CAF1B_HUMAN	E	552	ENSP00000315700:G552E	ENSP00000315700:G552E	G	+	2	0	CHAF1B	36710509	0.000000	0.05858	0.002000	0.10522	0.130000	0.20726	-1.362000	0.02595	0.189000	0.20188	0.563000	0.77884	GGA		0.567	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2	NM_005441		4	35	0	0	0	0	4	35				
SLC37A1	54020	broad.mit.edu	37	21	43974187	43974187	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:43974187G>A	ENST00000352133.2	+	10	1766	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SLC37A1_ENST00000398341.3_Missense_Mutation_p.E262K			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	262					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						AAAAGGCTATGAGAATGGTAC	0.388																																						uc002zbi.2		NA																	0					0						c.(784-786)GAG>AAG		solute carrier family 37 member 1							65.0	59.0	61.0					21																	43974187		2203	4300	6503	SO:0001583	missense	54020				carbohydrate transport|transmembrane transport	integral to membrane		g.chr21:43974187G>A	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.784G>A	21.37:g.43974187G>A	ENSP00000344648:p.Glu262Lys					SLC37A1_uc002zbj.2_Missense_Mutation_p.E262K	p.E262K	NM_018964	NP_061837	P57057	GLPT_HUMAN			11	1196	+			262					D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	c.784G>A	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328961	0.24167	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.22945	1.93;1.93	4.67	4.67	0.58626	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.770540	0.11696	N	0.538408	T	0.17746	0.0426	N	0.19112	0.55	0.33457	D	0.584496	B	0.16603	0.018	B	0.14578	0.011	T	0.13656	-1.0501	10	0.19147	T	0.46	-0.3874	13.0883	0.59153	0.0:0.0:1.0:0.0	.	262	P57057	GLPT_HUMAN	K	262	ENSP00000381383:E262K;ENSP00000344648:E262K	ENSP00000344648:E262K	E	+	1	0	SLC37A1	42847256	0.952000	0.32445	0.737000	0.30932	0.243000	0.25628	1.594000	0.36697	2.142000	0.66516	0.563000	0.77884	GAG		0.388	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195377.1			4	20	0	0	0	0	4	20				
KRTAP10-2	386679	broad.mit.edu	37	21	45970921	45970921	+	Missense_Mutation	SNP	G	G	C	rs201944330	byFrequency	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:45970921G>C	ENST00000391621.1	-	1	467	c.421C>G	c.(421-423)Cgt>Ggt	p.R141G	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	141	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(4)|skin(1)	6						ACAGGCACACGGCAGGACTGC	0.617																																						uc002zfi.1		NA																	0				large_intestine(1)	1						c.(421-423)CGT>GGT		keratin associated protein 10-2							109.0	114.0	112.0					21																	45970921		2203	4300	6503	SO:0001583	missense	386679					keratin filament		g.chr21:45970921G>C	AJ566381	CCDS42955.1	21q22.3	2007-10-05			ENSG00000205445	ENSG00000205445		"""Keratin associated proteins"""	22967	protein-coding gene	gene with protein product				KRTAP18-2			Standard	NM_198693		Approved	KAP10.2, KAP18.2	uc002zfi.1	P60368	OTTHUMG00000057625	ENST00000391621.1:c.421C>G	21.37:g.45970921G>C	ENSP00000375479:p.Arg141Gly					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.R141G	NM_198693	NP_941966	P60368	KR102_HUMAN			1	468	-			141			22 X 5 AA repeats of C-C-X(3).		Q70LJ5	Missense_Mutation	SNP	ENST00000391621.1	37	c.421C>G	CCDS42955.1	.	.	.	.	.	.	.	.	.	.	a	7.582	0.668930	0.14776	.	.	ENSG00000205445	ENST00000391621	T	0.00669	5.9	3.47	0.723	0.18231	.	.	.	.	.	T	0.00384	0.0012	N	0.01048	-1.04	0.09310	N	1	B	0.14805	0.011	B	0.15484	0.013	T	0.45381	-0.9265	9	0.52906	T	0.07	.	4.245	0.10667	0.7157:0.0:0.1109:0.1734	.	141	P60368	KR102_HUMAN	G	141	ENSP00000375479:R141G	ENSP00000375479:R141G	R	-	1	0	KRTAP10-2	44795349	0.102000	0.21896	0.008000	0.14137	0.010000	0.07245	0.515000	0.22801	0.199000	0.20427	-0.832000	0.03076	CGT		0.617	KRTAP10-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128027.1			26	154	0	0	0	0	26	154				
PCBP3	54039	broad.mit.edu	37	21	47360032	47360032	+	Missense_Mutation	SNP	C	C	T	rs375465014		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr21:47360032C>T	ENST00000400314.1	+	15	1336	c.998C>T	c.(997-999)aCg>aTg	p.T333M	PCBP3_ENST00000449640.1_Missense_Mutation_p.T333M|PCBP3_ENST00000400304.1_Missense_Mutation_p.T323M|PCBP3_ENST00000400310.1_Missense_Mutation_p.T313M|PCBP3_ENST00000400308.1_Missense_Mutation_p.T307M|PCBP3_ENST00000400309.1_Missense_Mutation_p.T332M			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	333	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCCAACGCCACGGAAGGGTCC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		19337	0.0		0.0	False		,,,				2504	0.001					uc002zhq.1		NA																	0				skin(1)	1						c.(997-999)ACG>ATG		poly(rC) binding protein 3 isoform 1		C	MET/THR,MET/THR	0,4252		0,0,2126	69.0	77.0	74.0		920,998	2.4	0.0	21		74	1,8483		0,1,4241	no	missense,missense	PCBP3	NM_001130141.1,NM_020528.2	81,81	0,1,6367	TT,TC,CC		0.0118,0.0,0.0079	benign,benign	307/346,333/372	47360032	1,12735	2126	4242	6368	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47360032C>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.998C>T	21.37:g.47360032C>T	ENSP00000383168:p.Thr333Met					PCBP3_uc002zhp.1_Missense_Mutation_p.T313M|PCBP3_uc002zhs.1_Missense_Mutation_p.T307M|PCBP3_uc002zhr.1_Missense_Mutation_p.T332M|PCBP3_uc002zht.1_Missense_Mutation_p.T323M	p.T333M	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	13	1123	+	all_hematologic(128;0.24)		333			KH 3.		A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.998C>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	C	9.694	1.152680	0.21371	0.0	1.18E-4	ENSG00000183570	ENST00000400314;ENST00000400310;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000346743;ENST00000400305;ENST00000400304	T;T;T;T;T;T;T	0.44482	1.5;1.48;1.5;1.49;1.5;1.9;0.92	4.19	2.39	0.29439	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.280419	0.39020	N	0.001486	T	0.18759	0.0450	N	0.04805	-0.155	0.37172	D	0.90309	B;B;B;B;B	0.30068	0.023;0.267;0.012;0.06;0.012	B;B;B;B;B	0.24006	0.047;0.03;0.016;0.05;0.016	T	0.10177	-1.0641	10	0.46703	T	0.11	-0.0477	7.7482	0.28881	0.0:0.7423:0.0:0.2577	.	323;307;332;333;313	E9PFP8;P57721-2;P57721-4;P57721;P57721-5	.;.;.;PCBP3_HUMAN;.	M	333;313;332;307;333;313;284;323	ENSP00000383168:T333M;ENSP00000383165:T313M;ENSP00000383164:T332M;ENSP00000383163:T307M;ENSP00000401198:T333M;ENSP00000383160:T284M;ENSP00000383159:T323M	ENSP00000330225:T313M	T	+	2	0	PCBP3	46184460	1.000000	0.71417	0.018000	0.16275	0.459000	0.32528	4.364000	0.59479	0.434000	0.26340	0.549000	0.68633	ACG		0.527	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			5	64	0	0	0	0	5	64				
OSBP2	23762	broad.mit.edu	37	22	31285493	31285493	+	Missense_Mutation	SNP	C	C	T	rs374035667		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:31285493C>T	ENST00000332585.6	+	7	1597	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L	OSBP2_ENST00000407373.1_Missense_Mutation_p.S325L|OSBP2_ENST00000403222.3_Missense_Mutation_p.S332L|OSBP2_ENST00000535268.1_Missense_Mutation_p.S42L|OSBP2_ENST00000437268.2_Missense_Mutation_p.S240L|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000446658.2_Missense_Mutation_p.S497L|OSBP2_ENST00000401475.1_Missense_Mutation_p.S131L	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	498					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GATGGTGCCTCGCTCGTGCCC	0.577																																						uc003aiy.1		NA																	0				breast(1)|skin(1)	2						c.(1492-1494)TCG>TTG		oxysterol binding protein 2 isoform a		C	LEU/SER	1,4205		0,1,2102	119.0	131.0	127.0		1493	4.4	0.2	22		127	0,8486		0,0,4243	no	missense	OSBP2	NM_030758.3	145	0,1,6345	TT,TC,CC		0.0,0.0238,0.0079	benign	498/917	31285493	1,12691	2103	4243	6346	SO:0001583	missense	23762				lipid transport	membrane	lipid binding	g.chr22:31285493C>T		CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1493C>T	22.37:g.31285493C>T	ENSP00000332576:p.Ser498Leu					OSBP2_uc011ala.1_Missense_Mutation_p.S332L|OSBP2_uc010gwc.1_Missense_Mutation_p.S325L|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Missense_Mutation_p.S497L|OSBP2_uc003aja.1_Missense_Mutation_p.S131L|OSBP2_uc011alc.1_Missense_Mutation_p.S240L|OSBP2_uc003ajb.2_Missense_Mutation_p.S43L|OSBP2_uc011ald.1_Missense_Mutation_p.S42L|OSBP2_uc010gwd.1_Missense_Mutation_p.S43L	p.S498L	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN			7	1597	+			498					B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	ENST00000332585.6	37	c.1493C>T	CCDS43002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.05|12.05	1.822502|1.822502	0.32237|0.32237	2.38E-4|2.38E-4	0.0|0.0	ENSG00000184792|ENSG00000184792	ENST00000453621;ENST00000431368|ENST00000403222;ENST00000407373;ENST00000332585;ENST00000446658;ENST00000401475;ENST00000424224;ENST00000437268;ENST00000535268;ENST00000452656	.|T;T;T;T;T;T;T	.|0.47528	.|0.84;0.84;1.4;1.4;0.87;0.85;0.88	5.46|5.46	4.38|4.38	0.52667|0.52667	.|.	.|1.630260	.|0.03343	.|N	.|0.194980	T|T	0.34978|0.34978	0.0916|0.0916	N|N	0.24115|0.24115	0.695|0.695	0.22719|0.22719	N|N	0.998815|0.998815	.|P;P;B;P;B;B	.|0.43750	.|0.772;0.816;0.007;0.816;0.004;0.004	.|B;B;B;B;B;B	.|0.33521	.|0.165;0.079;0.004;0.079;0.002;0.002	T|T	0.29243|0.29243	-1.0018|-1.0018	5|10	.|0.28530	.|T	.|0.3	7.7333|7.7333	12.2776|12.2776	0.54744|0.54744	0.1695:0.8305:0.0:0.0|0.1695:0.8305:0.0:0.0	.|.	.|240;332;240;325;497;498	.|F5H2A3;B4DKE4;B4DK24;Q6ZN50;Q0VF99;Q969R2	.|.;.;.;.;.;OSBP2_HUMAN	C|L	169;170|332;325;498;497;131;132;240;42;129	.|ENSP00000384213:S332L;ENSP00000385237:S325L;ENSP00000332576:S498L;ENSP00000392080:S497L;ENSP00000385254:S131L;ENSP00000389200:S240L;ENSP00000438713:S42L	.|ENSP00000332576:S498L	R|S	+|+	1|2	0|0	OSBP2|OSBP2	29615493|29615493	0.001000|0.001000	0.12720|0.12720	0.247000|0.247000	0.24249|0.24249	0.046000|0.046000	0.14306|0.14306	0.876000|0.876000	0.28092|0.28092	2.573000|2.573000	0.86826|0.86826	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.577	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321547.2	NM_030758		18	178	0	0	0	0	18	178				
EP300	2033	broad.mit.edu	37	22	41572250	41572250	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:41572250G>A	ENST00000263253.7	+	30	5998		c.e30-1		RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTGTTTTTCAGGTCTTCTTTG	0.537			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.e30-1		E1A binding protein p300							103.0	102.0	103.0					22																	41572250		2203	4300	6503	SO:0001630	splice_region_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41572250G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4780-1G>A	22.37:g.41572250G>A							p.V1594_splice	NM_001429	NP_001420	Q09472	EP300_HUMAN			30	5175	+								B1AKC2	Splice_Site	SNP	ENST00000263253.7	37	c.4780_splice	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539600	0.65085	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7274	0.91718	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39902196	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	9.869000	0.99810	2.500000	0.84329	0.650000	0.86243	.		0.537	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	Intron	10	174	0	0	0	0	10	174				
PNPLA3	80339	broad.mit.edu	37	22	44340652	44340652	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr22:44340652G>A	ENST00000216180.3	+	8	1367	c.1194G>A	c.(1192-1194)ctG>ctA	p.L398L	PNPLA3_ENST00000423180.2_Silent_p.L394L	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	398					acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	diolein transacylation activity (GO:0051265)|mono-olein transacylation activity (GO:0051264)|phospholipase A2 activity (GO:0004623)|triglyceride lipase activity (GO:0004806)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CTCGAGTGCTGATGTGTCTGC	0.562																																						uc003bei.1		NA																	0					0						c.(1192-1194)CTG>CTA		patatin-like phospholipase domain containing 3							240.0	185.0	204.0					22																	44340652		2203	4300	6503	SO:0001819	synonymous_variant	80339				triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity	g.chr22:44340652G>A		CCDS14054.1	22q13.31	2014-03-14	2006-05-26	2006-05-26	ENSG00000100344	ENSG00000100344	3.1.1.3	"""Patatin-like phospholipase domain containing"""	18590	protein-coding gene	gene with protein product		609567	"""chromosome 22 open reading frame 20"", ""adiponutrin"""	C22orf20, ADPN		16799181, 19029121	Standard	NM_025225		Approved	dJ796I17.1, FLJ22012, adiponutrin, iPLA2epsilon	uc003bei.1	Q9NST1	OTTHUMG00000150555	ENST00000216180.3:c.1194G>A	22.37:g.44340652G>A						PNPLA3_uc010gzm.1_RNA	p.L398L	NM_025225	NP_079501	Q9NST1	PLPL3_HUMAN			8	1367	+		Ovarian(80;0.024)|all_neural(38;0.0416)	398			Lumenal (Potential).		B0QYI0|B2RCL3|B3KW00|Q6P1A1|Q96CB4	Silent	SNP	ENST00000216180.3	37	c.1194G>A	CCDS14054.1																																																																																				0.562	PNPLA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318891.1	NM_025225		15	85	0	0	0	0	15	85				
GOLGA4	2803	broad.mit.edu	37	3	37388711	37388711	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:37388711C>T	ENST00000361924.2	+	21	6874	c.6500C>T	c.(6499-6501)tCa>tTa	p.S2167L	GOLGA4_ENST00000356847.4_Missense_Mutation_p.S2182L|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2167					Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACGGATGTCTCACTCTTTGGA	0.343																																						uc003cgv.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(6499-6501)TCA>TTA		golgi autoantigen, golgin subfamily a, 4							143.0	140.0	141.0					3																	37388711		2203	4300	6503	SO:0001583	missense	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37388711C>T	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.6500C>T	3.37:g.37388711C>T	ENSP00000354486:p.Ser2167Leu					GOLGA4_uc003cgw.2_Missense_Mutation_p.S2182L|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Missense_Mutation_p.S2048L	p.S2167L	NM_002078	NP_002069	Q13439	GOGA4_HUMAN			21	6804	+			2167			Potential.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	c.6500C>T	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725899	0.89298	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.26810	1.71;1.72;1.72	5.48	5.48	0.80851	.	0.000000	0.28021	N	0.016901	T	0.37919	0.1021	L	0.29908	0.895	0.48135	D	0.999591	D;D;D	0.65815	0.992;0.992;0.995	P;P;P	0.61070	0.838;0.838;0.883	T	0.09662	-1.0664	10	0.54805	T	0.06	.	18.1104	0.89533	0.0:1.0:0.0:0.0	.	2167;2182;2167	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	L	2167;2182;2038	ENSP00000354486:S2167L;ENSP00000349305:S2182L;ENSP00000405842:S2038L	ENSP00000349305:S2182L	S	+	2	0	GOLGA4	37363715	0.995000	0.38212	0.990000	0.47175	0.964000	0.63967	3.477000	0.53151	2.574000	0.86865	0.455000	0.32223	TCA		0.343	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078		6	61	0	0	0	0	6	61				
XIRP1	165904	broad.mit.edu	37	3	39230363	39230363	+	Silent	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39230363T>G	ENST00000340369.3	-	2	802	c.574A>C	c.(574-576)Agg>Cgg	p.R192R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R192R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	192					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAGAGCATCCTGGTACCCTGC	0.632																																						uc003cjk.1		NA																	0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(574-576)AGG>CGG		xin actin-binding repeat containing 1							50.0	50.0	50.0					3																	39230363		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39230363T>G	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.574A>C	3.37:g.39230363T>G						XIRP1_uc003cji.2_Silent_p.R192R|XIRP1_uc003cjj.2_Intron	p.R192R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	795	-			192			Xin 4.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.574A>C	CCDS2683.1																																																																																				0.632	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		7	75	0	0	0	0	7	75				
CX3CR1	1524	broad.mit.edu	37	3	39307506	39307506	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:39307506G>A	ENST00000541347.1	-	2	734	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CX3CR1_ENST00000542107.1_Silent_p.F165F|CX3CR1_ENST00000358309.3_Silent_p.F197F|CX3CR1_ENST00000399220.2_Silent_p.F165F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	165					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGTGAACATGAACTGGGGTG	0.547																																						uc003cjl.2		NA																	0				lung(3)	3						c.(493-495)TTC>TTT		chemokine (C-X3-C motif) receptor 1							86.0	88.0	87.0					3																	39307506		1996	4172	6168	SO:0001819	synonymous_variant	1524				cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	g.chr3:39307506G>A	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.495C>T	3.37:g.39307506G>A							p.F165F	NM_001337	NP_001328	P49238	CX3C1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)	2	587	-			165			Helical; Name=4; (Potential).		A0N0N6|B2R5Z4|J3KP17	Silent	SNP	ENST00000541347.1	37	c.495C>T	CCDS43069.1																																																																																				0.547	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343613.1	NM_001337		13	99	0	0	0	0	13	99				
ZKSCAN7	55888	broad.mit.edu	37	3	44609918	44609918	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609918C>T	ENST00000273320.3	+	5	1233	c.804C>T	c.(802-804)gcC>gcT	p.A268A	ZKSCAN7_ENST00000341840.3_Silent_p.A268A|ZKSCAN7_ENST00000426540.1_Silent_p.A268A|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Silent_p.A268A|RP11-944L7.5_ENST00000419137.1_Silent_p.A103A	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	268	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										ATAGCATGGCCTCCTTGGGTA	0.403																																						uc010hin.2		NA																	0				ovary(2)	2						c.(802-804)GCC>GCT		zinc finger protein 167 isoform 1							134.0	132.0	133.0					3																	44609918		2203	4300	6503	SO:0001819	synonymous_variant	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44609918C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.804C>T	3.37:g.44609918C>T						ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.A268A|ZNF167_uc010hio.2_Silent_p.A118A|ZNF167_uc003cnj.2_Silent_p.A268A|ZNF167_uc003cnk.2_Silent_p.A268A	p.A268A	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	5	1192	+			268			KRAB.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.804C>T	CCDS2715.1																																																																																				0.403	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		8	55	0	0	0	0	8	55				
ZKSCAN7	55888	broad.mit.edu	37	3	44609921	44609921	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:44609921C>T	ENST00000273320.3	+	5	1236	c.807C>T	c.(805-807)tcC>tcT	p.S269S	ZKSCAN7_ENST00000341840.3_Silent_p.S269S|ZKSCAN7_ENST00000426540.1_Silent_p.S269S|RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000431636.1_Silent_p.S269S|RP11-944L7.5_ENST00000419137.1_Silent_p.S104S	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	269	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										GCATGGCCTCCTTGGGTAATG	0.398																																						uc010hin.2		NA																	0				ovary(2)	2						c.(805-807)TCC>TCT		zinc finger protein 167 isoform 1							129.0	127.0	127.0					3																	44609921		2203	4300	6503	SO:0001819	synonymous_variant	55888				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44609921C>T	L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.807C>T	3.37:g.44609921C>T						ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Silent_p.S269S|ZNF167_uc010hio.2_Silent_p.S119S|ZNF167_uc003cnj.2_Silent_p.S269S|ZNF167_uc003cnk.2_Silent_p.S269S	p.S269S	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)	5	1195	+			269			KRAB.		A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Silent	SNP	ENST00000273320.3	37	c.807C>T	CCDS2715.1																																																																																				0.398	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		8	54	0	0	0	0	8	54				
GRM2	2912	broad.mit.edu	37	3	51746802	51746802	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:51746802G>A	ENST00000395052.3	+	3	998	c.764G>A	c.(763-765)cGa>cAa	p.R255Q	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R255Q	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	255					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGTGTGGTGCGAGCCCTGCTG	0.662																																						uc010hlv.2		NA																	0				lung(1)	1						c.(763-765)CGA>CAA		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						31.0	31.0	31.0					3																	51746802		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51746802G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.764G>A	3.37:g.51746802G>A	ENSP00000378492:p.Arg255Gln					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.R255Q	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	3	1003	+			255			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.764G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	9.445	1.088952	0.20390	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.82619	-1.63;-1.63	5.25	4.37	0.52481	Extracellular ligand-binding receptor (1);	0.065593	0.64402	D	0.000010	T	0.79953	0.4535	L	0.51914	1.62	0.47584	D	0.999464	P	0.51147	0.942	P	0.49276	0.605	T	0.75819	-0.3183	10	0.25751	T	0.34	.	7.1491	0.25599	0.1454:0.1449:0.7097:0.0	.	255	Q14416	GRM2_HUMAN	Q	255	ENSP00000378492:R255Q;ENSP00000408906:R255Q	ENSP00000296479:R255Q	R	+	2	0	GRM2	51721842	1.000000	0.71417	0.993000	0.49108	0.002000	0.02628	4.037000	0.57311	1.357000	0.45904	-0.172000	0.13284	CGA		0.662	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			9	53	0	0	0	0	9	53				
OR5H14	403273	broad.mit.edu	37	3	97868522	97868522	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97868522A>T	ENST00000437310.1	+	1	353	c.293A>T	c.(292-294)aAg>aTg	p.K98M	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGAATGCAAGATACAGTTG	0.383																																						uc003dsg.1		NA																	0				skin(1)	1						c.(292-294)AAG>ATG		olfactory receptor, family 5, subfamily H,							206.0	213.0	210.0					3																	97868522		2203	4299	6502	SO:0001583	missense	403273				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97868522A>T		CCDS33798.1	3q11.2	2013-09-23			ENSG00000236032	ENSG00000236032		"""GPCR / Class A : Olfactory receptors"""	31286	protein-coding gene	gene with protein product							Standard	NM_001005514		Approved		uc003dsg.1	A6NHG9	OTTHUMG00000160079	ENST00000437310.1:c.293A>T	3.37:g.97868522A>T	ENSP00000401706:p.Lys98Met						p.K98M	NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN			1	293	+			98			Extracellular (Potential).		B9EH15	Missense_Mutation	SNP	ENST00000437310.1	37	c.293A>T	CCDS33798.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.669542	0.00758	.	.	ENSG00000236032	ENST00000437310	T	0.00353	7.94	2.49	-2.47	0.06442	GPCR, rhodopsin-like superfamily (1);	0.623259	0.15002	N	0.286069	T	0.00039	0.0001	N	0.00224	-1.81	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.17319	-1.0373	10	0.14656	T	0.56	.	2.7809	0.05360	0.3994:0.1334:0.0:0.4672	.	98	A6NHG9	O5H14_HUMAN	M	98	ENSP00000401706:K98M	ENSP00000401706:K98M	K	+	2	0	OR5H14	99351212	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.447000	0.21710	-0.677000	0.05231	0.164000	0.16699	AAG		0.383	OR5H14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359112.1			27	186	0	0	0	0	27	186				
OR5H15	403274	broad.mit.edu	37	3	97887666	97887666	+	Silent	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:97887666G>C	ENST00000356526.2	+	1	123	c.123G>C	c.(121-123)ggG>ggC	p.G41G		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCATCATGGGGAATCTTGGTC	0.408																																						uc011bgu.1		NA																	0				ovary(1)|skin(1)	2						c.(121-123)GGG>GGC		olfactory receptor, family 5, subfamily H,							146.0	147.0	146.0					3																	97887666		2203	4296	6499	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887666G>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.123G>C	3.37:g.97887666G>C							p.G41G	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	123	+			41			Helical; Name=1; (Potential).			Silent	SNP	ENST00000356526.2	37	c.123G>C	CCDS33799.1																																																																																				0.408	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			22	191	0	0	0	0	22	191				
PVRL3	25945	broad.mit.edu	37	3	110831075	110831075	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:110831075G>A	ENST00000485303.1	+	2	634	c.359G>A	c.(358-360)aGa>aAa	p.R120K	PVRL3_ENST00000493615.1_Missense_Mutation_p.R97K|PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000319792.3_Missense_Mutation_p.R120K	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	120	Ig-like V-type.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)	p.R120T(1)|p.R97T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TATCAGGGAAGAGTCTTGTTT	0.373																																						uc003dxt.1		NA																	2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)	2						c.(358-360)AGA>AAA		poliovirus receptor-related 3 precursor							115.0	110.0	112.0					3																	110831075		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110831075G>A	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.359G>A	3.37:g.110831075G>A	ENSP00000418070:p.Arg120Lys					PVRL3_uc003dxu.1_Missense_Mutation_p.R97K	p.R120K	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN			2	359	+			120			Extracellular (Potential).|Ig-like V-type.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.359G>A	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251912	0.80135	.	.	ENSG00000177707	ENST00000461477;ENST00000485303;ENST00000319792;ENST00000493615;ENST00000481766	T;T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54;-0.54	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.046654	0.85682	D	0.000000	T	0.73953	0.3653	L	0.39397	1.21	0.54753	D	0.99998	D;P	0.58970	0.984;0.79	P;B	0.53224	0.721;0.323	T	0.75502	-0.3295	10	0.62326	D	0.03	.	17.649	0.88157	0.0:0.0:1.0:0.0	.	97;120	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	K	73;120;120;97;105	ENSP00000418327:R73K;ENSP00000418070:R120K;ENSP00000321514:R120K;ENSP00000420579:R97K;ENSP00000420479:R105K	ENSP00000321514:R120K	R	+	2	0	PVRL3	112313765	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.211000	0.51137	2.760000	0.94817	0.655000	0.94253	AGA		0.373	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		7	50	0	0	0	0	7	50				
CEP63	80254	broad.mit.edu	37	3	134251719	134251719	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:134251719G>A	ENST00000337090.3	+	5	591	c.418G>A	c.(418-420)Gag>Aag	p.E140K	CEP63_ENST00000383229.3_Missense_Mutation_p.E140K|CEP63_ENST00000606977.1_Missense_Mutation_p.E140K|CEP63_ENST00000354446.3_Missense_Mutation_p.E140K|CEP63_ENST00000332047.5_Missense_Mutation_p.E140K|CEP63_ENST00000513612.2_Missense_Mutation_p.E140K			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	140					centriole replication (GO:0007099)|DNA damage checkpoint (GO:0000077)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|signal transduction in response to DNA damage (GO:0042770)|spindle assembly (GO:0051225)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|spindle pole (GO:0000922)				kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTGAAATTGAGAGGTTAAC	0.363																																						uc003eqo.1		NA																	0				ovary(1)	1						c.(418-420)GAG>AAG		centrosomal protein 63 isoform a							110.0	118.0	115.0					3																	134251719		2203	4300	6503	SO:0001583	missense	80254				cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	g.chr3:134251719G>A	AK056465	CCDS3086.1, CCDS43152.1, CCDS43153.1, CCDS43154.1	3q22.1	2014-02-20			ENSG00000182923	ENSG00000182923			25815	protein-coding gene	gene with protein product		614724				14654843, 24240477	Standard	NM_001042383		Approved	FLJ13386	uc003eqo.1	Q96MT8	OTTHUMG00000159725	ENST00000337090.3:c.418G>A	3.37:g.134251719G>A	ENSP00000336524:p.Glu140Lys					CEP63_uc003eql.1_Missense_Mutation_p.E140K|CEP63_uc003eqm.2_Missense_Mutation_p.E140K|CEP63_uc003eqn.1_Missense_Mutation_p.E140K	p.E140K	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN			6	867	+			140			Potential.		D3DND8|D3DND9|D3DNE0|Q96CR0|Q9H8F5|Q9H8N0	Missense_Mutation	SNP	ENST00000337090.3	37	c.418G>A	CCDS3086.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.883660	0.51908	.	.	ENSG00000182923	ENST00000332047;ENST00000354446;ENST00000511574;ENST00000337090;ENST00000383229;ENST00000513612	T;T;T;T;T;T	0.22336	1.96;1.96;1.96;1.96;1.96;1.96	5.79	4.9	0.64082	.	0.414549	0.26187	N	0.025829	T	0.19485	0.0468	M	0.62723	1.935	0.29720	N	0.83869	B;P;P;P	0.43826	0.313;0.649;0.818;0.51	B;B;B;B	0.38428	0.115;0.228;0.167;0.273	T	0.22068	-1.0227	10	0.40728	T	0.16	-11.0235	6.4558	0.21928	0.115:0.1824:0.7026:0.0	.	140;140;140;140	Q96MT8;Q96MT8-2;Q96MT8-4;Q96MT8-3	CEP63_HUMAN;.;.;.	K	140	ENSP00000328382:E140K;ENSP00000346432:E140K;ENSP00000424626:E140K;ENSP00000336524:E140K;ENSP00000372716:E140K;ENSP00000426129:E140K	ENSP00000328382:E140K	E	+	1	0	CEP63	135734409	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.074000	0.50065	1.420000	0.47138	0.655000	0.94253	GAG		0.363	CEP63-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000470139.1	NM_025180		9	22	0	0	0	0	9	22				
SOX14	8403	broad.mit.edu	37	3	137483941	137483941	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:137483941C>G	ENST00000306087.1	+	1	363	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_004189.3	NP_004180.1	O95416	SOX14_HUMAN	SRY (sex determining region Y)-box 14	105					entrainment of circadian clock (GO:0009649)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|regulation of neuron migration (GO:2001222)|visual perception (GO:0007601)	nuclear transcription factor complex (GO:0044798)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.L105L(1)		large_intestine(2)|lung(12)	14						CGGACCCGCTCAAGGCGGCTG	0.687																																						uc003erm.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)CTC>CTG		SRY-box 14							66.0	74.0	71.0					3																	137483941		2203	4300	6503	SO:0001819	synonymous_variant	8403				negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding	g.chr3:137483941C>G	AJ006230	CCDS3094.1	3q22-q23	2008-07-18			ENSG00000168875	ENSG00000168875		"""SRY (sex determining region Y)-boxes"""	11193	protein-coding gene	gene with protein product	"""HMG box transcription factor SOX-14"", ""SRY-box 14"""	604747				9925951	Standard	NM_004189		Approved	SOX28	uc003erm.2	O95416	OTTHUMG00000159757	ENST00000306087.1:c.315C>G	3.37:g.137483941C>G							p.L105L	NM_004189	NP_004180	O95416	SOX14_HUMAN			1	363	+			105					B2RAC0|Q3KPH7	Silent	SNP	ENST00000306087.1	37	c.315C>G	CCDS3094.1																																																																																				0.687	SOX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357182.1	NM_004189		7	39	0	0	0	0	7	39				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	42	0	0	0	0	8	42				
NSG1	27065	broad.mit.edu	37	4	4419092	4419092	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:4419092C>T	ENST00000421177.2	+	9	2479	c.488C>T	c.(487-489)cCc>cTc	p.P163L	NSG1_ENST00000513555.1_Missense_Mutation_p.P163L|NSG1_ENST00000433139.2_Missense_Mutation_p.P163L|NSG1_ENST00000505246.1_Missense_Mutation_p.P163L|STX18_ENST00000505286.1_Intron|NSG1_ENST00000397958.1_Missense_Mutation_p.P163L|NSG1_ENST00000504171.1_Missense_Mutation_p.P124L|NSG1_ENST00000506380.1_Missense_Mutation_p.P163L			P42857	NSG1_HUMAN		163					clathrin coat assembly (GO:0048268)|dopamine receptor signaling pathway (GO:0007212)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)											TCCGTATCGCCCTGGATGTCA	0.532																																						uc011bvz.1		NA																	0				ovary(1)	1						c.(487-489)CCC>CTC		brain neuron cytoplasmic protein 1							118.0	115.0	116.0					4																	4419092		2203	4300	6503	SO:0001583	missense	27065				dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding	g.chr4:4419092C>T																												ENST00000421177.2:c.488C>T	4.37:g.4419092C>T	ENSP00000388823:p.Pro163Leu					D4S234E_uc011bwa.1_Missense_Mutation_p.P124L|D4S234E_uc003ghz.2_Missense_Mutation_p.P163L|D4S234E_uc003gia.2_Missense_Mutation_p.P163L|D4S234E_uc003gib.2_Missense_Mutation_p.P163L	p.P163L	NM_014392	NP_055207	P42857	NSG1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.166)	8	1769	+			163			Lumenal (Potential).		B4DXC5|Q49AQ1	Missense_Mutation	SNP	ENST00000421177.2	37	c.488C>T	CCDS3376.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626706	0.87560	.	.	ENSG00000168824	ENST00000421177;ENST00000513555;ENST00000505246;ENST00000506380;ENST00000397958;ENST00000433139;ENST00000504171	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.78729	0.4329	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.986	T	0.81947	-0.0700	9	0.72032	D	0.01	1.1973	17.5367	0.87834	0.0:1.0:0.0:0.0	.	124;163	B4DXC5;P42857	.;NSG1_HUMAN	L	163;163;163;163;163;163;124	.	ENSP00000381049:P163L	P	+	2	0	AC110814.1	4469993	1.000000	0.71417	0.587000	0.28692	0.909000	0.53808	7.194000	0.77789	2.131000	0.65755	0.561000	0.74099	CCC		0.532	NSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246799.1			8	118	0	0	0	0	8	118				
SLIT2	9353	broad.mit.edu	37	4	20611715	20611715	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:20611715G>T	ENST00000504154.1	+	34	4024	c.3772G>T	c.(3772-3774)Ggt>Tgt	p.G1258C	SLIT2_ENST00000273739.5_Missense_Mutation_p.G1271C|SLIT2_ENST00000503823.1_Missense_Mutation_p.G1250C|SLIT2_ENST00000503837.1_Missense_Mutation_p.G1254C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1258	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTCCGTGGATGGTGGGAACCC	0.433																																						uc003gpr.1		NA																	0				central_nervous_system(4)|skin(4)|ovary(3)	11						c.(3772-3774)GGT>TGT		slit homolog 2 precursor							180.0	163.0	169.0					4																	20611715		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20611715G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3772G>T	4.37:g.20611715G>T	ENSP00000422591:p.Gly1258Cys					SLIT2_uc003gps.1_Missense_Mutation_p.G1250C	p.G1258C	NM_004787	NP_004778	O94813	SLIT2_HUMAN			34	3976	+			1258			Laminin G-like.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.3772G>T	CCDS3426.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.5|27.5	4.840362|4.840362	0.91117|0.91117	.|.	.|.	ENSG00000145147|ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837|ENST00000512993	T;T;T;T|.	0.73789|.	-0.78;-0.78;-0.78;-0.78|.	6.07|6.07	6.07|6.07	0.98685|0.98685	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);|.	0.052988|.	0.85682|.	D|.	0.000000|.	D|D	0.85444|0.85444	0.5698|0.5698	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.999;1.0|.	D;D|.	0.85130|.	0.967;0.997|.	D|D	0.85912|0.85912	0.1441|0.1441	10|5	0.52906|.	T|.	0.07|.	.|.	20.6593|20.6593	0.99626|0.99626	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1250;1258|.	O94813-3;O94813|.	.;SLIT2_HUMAN|.	C|I	1250;1258;1271;1254;1254|41	ENSP00000427548:G1250C;ENSP00000422591:G1258C;ENSP00000273739:G1271C;ENSP00000422261:G1254C|.	ENSP00000273739:G1271C|.	G|M	+|+	1|3	0|0	SLIT2|SLIT2	20220813|20220813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.869000|0.869000	0.49853|0.49853	9.810000|9.810000	0.99221|0.99221	2.885000|2.885000	0.99019|0.99019	0.655000|0.655000	0.94253|0.94253	GGT|ATG		0.433	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			8	54	1	0	0.00307968	0.00537434	8	54				
C4orf19	55286	broad.mit.edu	37	4	37592483	37592483	+	Missense_Mutation	SNP	C	C	T	rs367961468		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:37592483C>T	ENST00000284437.6	+	3	984	c.806C>T	c.(805-807)tCa>tTa	p.S269L	C4orf19_ENST00000381980.4_Missense_Mutation_p.S269L|RP11-36B15.1_ENST00000503034.1_RNA|C4orf19_ENST00000508175.1_Intron|RELL1_ENST00000314117.4_3'UTR	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	269										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GTGGTTGACTCAGGAAACAGG	0.522																																						uc003gsw.3		NA																	0					0						c.(805-807)TCA>TTA		hypothetical protein LOC55286		C	,LEU/SER,LEU/SER	0,4406		0,0,2203	109.0	105.0	107.0		,806,806	0.2	0.0	4		107	1,8599	1.2+/-3.3	0,1,4299	no	utr-3,missense,missense	C4orf19,RELL1	NM_001085399.1,NM_018302.2,NM_001104629.1	,145,145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign,benign	,269/315,269/315	37592483	1,13005	2203	4300	6503	SO:0001583	missense	55286							g.chr4:37592483C>T	BC037906	CCDS3442.1	4p14	2008-02-05			ENSG00000154274	ENSG00000154274			25618	protein-coding gene	gene with protein product						12477932	Standard	NM_001104629		Approved	FLJ11017	uc003gsw.4	Q8IY42	OTTHUMG00000128580	ENST00000284437.6:c.806C>T	4.37:g.37592483C>T	ENSP00000284437:p.Ser269Leu					RELL1_uc003gsz.2_3'UTR|C4orf19_uc003gsy.3_Missense_Mutation_p.S269L	p.S269L	NM_001104629	NP_001098099	Q8IY42	CD019_HUMAN			4	989	+			269					Q9NV03	Missense_Mutation	SNP	ENST00000284437.6	37	c.806C>T	CCDS3442.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.134366	0.56828	0.0	1.16E-4	ENSG00000154274	ENST00000381980;ENST00000284437	T;T	0.26223	1.75;1.75	4.59	0.166	0.14999	.	1.059930	0.07438	N	0.896787	T	0.20414	0.0491	L	0.48642	1.525	0.09310	N	1	B	0.21147	0.052	B	0.15052	0.012	T	0.35649	-0.9780	10	0.72032	D	0.01	0.1911	2.9691	0.05917	0.2973:0.4566:0.1443:0.1018	.	269	Q8IY42	CD019_HUMAN	L	269	ENSP00000371408:S269L;ENSP00000284437:S269L	ENSP00000284437:S269L	S	+	2	0	C4orf19	37268878	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.707000	0.05041	-0.011000	0.14247	0.591000	0.81541	TCA		0.522	C4orf19-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250432.1	NM_018302		10	96	0	0	0	0	10	96				
FRYL	285527	broad.mit.edu	37	4	48542543	48542543	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:48542543C>T	ENST00000503238.1	-	43	6121	c.6122G>A	c.(6121-6123)cGa>cAa	p.R2041Q	FRYL_ENST00000537810.1_Missense_Mutation_p.R2041Q|FRYL_ENST00000358350.4_Missense_Mutation_p.R2041Q|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR			O94915	FRYL_HUMAN	FRY-like	2041					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)			p.R2041Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AATCTTCTCTCGACTCTCTGA	0.378																																						uc003gyh.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(6121-6123)CGA>CAA		furry-like							105.0	95.0	98.0					4																	48542543		1845	4087	5932	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48542543C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.6122G>A	4.37:g.48542543C>T	ENSP00000426064:p.Arg2041Gln					FRYL_uc003gyg.1_Missense_Mutation_p.R737Q|FRYL_uc003gyi.1_Missense_Mutation_p.R929Q|FRYL_uc003gyj.1_Missense_Mutation_p.R336Q	p.R2041Q	NM_015030	NP_055845	O94915	FRYL_HUMAN			46	6727	-			2041					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.6122G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976084	0.74360	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810	T;T;T	0.32023	1.47;1.47;1.47	6.16	6.16	0.99307	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56292	0.1975	M	0.67397	2.05	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.80764	0.994;0.971;0.913	T	0.35919	-0.9769	10	0.29301	T	0.29	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	871;2041;2041	Q6ZR29;O94915;F5GX82	.;FRYL_HUMAN;.	Q	2041	ENSP00000426064:R2041Q;ENSP00000351113:R2041Q;ENSP00000441114:R2041Q	ENSP00000351113:R2041Q	R	-	2	0	FRYL	48237300	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	7.750000	0.85110	2.937000	0.99478	0.650000	0.86243	CGA		0.378	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			13	49	0	0	0	0	13	49				
GUCY1A3	2982	broad.mit.edu	37	4	156618130	156618130	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:156618130A>G	ENST00000296518.7	+	3	320	c.111A>G	c.(109-111)tcA>tcG	p.S37S	GUCY1A3_ENST00000513574.1_Silent_p.S37S|GUCY1A3_ENST00000455639.2_Silent_p.S37S|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000506455.1_Silent_p.S37S|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Silent_p.S37S|GUCY1A3_ENST00000511108.1_Silent_p.S37S			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	37					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CAGGAAGCTCAGAGAGCTGCA	0.493																																						uc003iov.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(109-111)TCA>TCG		guanylate cyclase 1, soluble, alpha 3 isoform A							105.0	97.0	100.0					4																	156618130		2203	4300	6503	SO:0001819	synonymous_variant	2982				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	g.chr4:156618130A>G		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.111A>G	4.37:g.156618130A>G						GUCY1A3_uc003iou.2_Silent_p.S37S|GUCY1A3_uc010iqc.2_Silent_p.S37S|GUCY1A3_uc003iow.2_Silent_p.S37S|GUCY1A3_uc010iqd.2_Silent_p.S37S|GUCY1A3_uc003iox.2_Silent_p.S37S|GUCY1A3_uc003ioz.2_5'UTR|GUCY1A3_uc003ioy.2_Silent_p.S37S|GUCY1A3_uc010iqe.2_5'UTR|GUCY1A3_uc003ipa.2_RNA|GUCY1A3_uc003ipb.2_Silent_p.S37S	p.S37S	NM_000856	NP_000847	Q02108	GCYA3_HUMAN		COAD - Colon adenocarcinoma(41;0.17)	4	647	+	all_hematologic(180;0.24)	Renal(120;0.0854)	37					D3DP19|D6RDW3|O43843|Q8TAH3	Silent	SNP	ENST00000296518.7	37	c.111A>G	CCDS34085.1																																																																																				0.493	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2			6	51	0	0	0	0	6	51				
FAT1	2195	broad.mit.edu	37	4	187628809	187628809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr4:187628809G>A	ENST00000441802.2	-	2	2382	c.2173C>T	c.(2173-2175)Cag>Tag	p.Q725*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	725	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCTTTACCTGAATACCAGTC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(2173-2175)CAG>TAG		FAT tumor suppressor 1 precursor							58.0	56.0	57.0					4																	187628809		1882	4117	5999	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187628809G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2173C>T	4.37:g.187628809G>A	ENSP00000406229:p.Gln725*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.Q725*	p.Q725*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2361	-			725			Extracellular (Potential).|Cadherin 6.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.2173C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329098	0.95733	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.39	2.6	0.31112	.	0.205190	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	.	9.6187	0.39708	0.0:0.6452:0.2774:0.0774	.	.	.	.	X	725	.	ENSP00000260147:Q725X	Q	-	1	0	FAT1	187865803	0.997000	0.39634	0.310000	0.25168	0.016000	0.09150	3.250000	0.51445	0.348000	0.23949	-0.340000	0.08031	CAG		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		9	45	0	0	0	0	9	45				
AGXT2	64902	broad.mit.edu	37	5	35037140	35037140	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:35037140G>A	ENST00000231420.6	-	4	593	c.393C>T	c.(391-393)ctC>ctT	p.L131L	AC010368.1_ENST00000390793.2_RNA	NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	131					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	ACAGGCGGCCGAGCTGCTTTT	0.532																																						uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(391-393)CTC>CTT		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						94.0	92.0	93.0					5																	35037140		2203	4300	6503	SO:0001819	synonymous_variant	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35037140G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.393C>T	5.37:g.35037140G>A						AGXT2_uc011com.1_Silent_p.L131L|AGXT2_uc011con.1_Silent_p.L39L	p.L131L	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	4	472	-	all_lung(31;4.52e-05)		131					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Silent	SNP	ENST00000231420.6	37	c.393C>T	CCDS3908.1																																																																																				0.532	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		10	59	0	0	0	0	10	59				
NUP155	9631	broad.mit.edu	37	5	37327823	37327823	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37327823A>C	ENST00000231498.3	-	18	2135	c.1932T>G	c.(1930-1932)acT>acG	p.T644T	NUP155_ENST00000513532.1_Silent_p.T644T|RNU7-75P_ENST00000516071.1_RNA|NUP155_ENST00000381843.2_Silent_p.T585T	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	644	Pro-rich.				atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGTGGCCTGAGTTGCTGGGT	0.413																																						uc003jku.1		NA																	0				ovary(1)	1						c.(1930-1932)ACT>ACG		nucleoporin 155kDa isoform 1							99.0	83.0	88.0					5																	37327823		2203	4300	6503	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37327823A>C	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1932T>G	5.37:g.37327823A>C						NUP155_uc003jkt.1_Silent_p.T585T|NUP155_uc010iuz.1_Silent_p.T644T	p.T644T	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		18	2050	-	all_lung(31;0.000137)		644			Pro-rich.		Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.1932T>G	CCDS3921.1																																																																																				0.413	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		4	36	0	0	0	0	4	36				
WDR70	55100	broad.mit.edu	37	5	37605304	37605304	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:37605304G>A	ENST00000265107.4	+	10	1212	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	WDR70_ENST00000504564.1_Silent_p.Q352Q|WDR70_ENST00000510699.1_3'UTR	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	352							enzyme binding (GO:0019899)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGCCTGCCAGAATGGAAGCA	0.413																																						uc003jkv.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1054-1056)CAG>CAA		WD repeat domain 70							90.0	81.0	84.0					5																	37605304		2203	4300	6503	SO:0001819	synonymous_variant	55100							g.chr5:37605304G>A	BC009648	CCDS34147.1	5p13.2	2013-01-09			ENSG00000082068	ENSG00000082068		"""WD repeat domain containing"""	25495	protein-coding gene	gene with protein product						12477932	Standard	NM_018034		Approved	FLJ10233	uc003jkv.3	Q9NW82	OTTHUMG00000162263	ENST00000265107.4:c.1056G>A	5.37:g.37605304G>A						WDR70_uc010iva.1_Silent_p.Q352Q	p.Q352Q	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		10	1114	+	all_lung(31;0.000285)		352			WD 4.		Q9H053	Silent	SNP	ENST00000265107.4	37	c.1056G>A	CCDS34147.1																																																																																				0.413	WDR70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368294.1	NM_018034		7	34	0	0	0	0	7	34				
SERINC5	256987	broad.mit.edu	37	5	79473837	79473837	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:79473837C>T	ENST00000507668.2	-	3	395	c.245G>A	c.(244-246)tGt>tAt	p.C82Y	SERINC5_ENST00000509193.1_Missense_Mutation_p.C82Y|SERINC5_ENST00000512972.2_Missense_Mutation_p.C82Y|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.C82Y	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	82					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		CAGCTTCTCACAGGTGTCACC	0.398																																						uc003kgj.2		NA																	0				ovary(1)	1						c.(244-246)TGT>TAT		developmentally regulated protein TPO1							76.0	75.0	75.0					5																	79473837		1873	4107	5980	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79473837C>T	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.245G>A	5.37:g.79473837C>T	ENSP00000426237:p.Cys82Tyr					SERINC5_uc003kgk.2_Missense_Mutation_p.C82Y|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.C82Y|SERINC5_uc011ctj.1_Missense_Mutation_p.C82Y	p.C82Y	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	3	374	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	82			Cytoplasmic (Potential).		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.245G>A	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.875113	0.91664	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85266	0.1053	10	0.66056	D	0.02	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	82;82;82;82	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	Y	82;81;82;82;82	ENSP00000426237:C82Y;ENSP00000426134:C82Y;ENSP00000421665:C82Y;ENSP00000420863:C82Y	ENSP00000327542:C81Y	C	-	2	0	SERINC5	79509593	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	7.620000	0.83070	2.885000	0.99019	0.655000	0.94253	TGT		0.398	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		4	11	0	0	0	0	4	11				
ERAP2	64167	broad.mit.edu	37	5	96239261	96239261	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:96239261T>C	ENST00000437043.3	+	13	2720	c.2009T>C	c.(2008-2010)gTt>gCt	p.V670A	ERAP2_ENST00000379904.4_Missense_Mutation_p.V625A|CTD-2260A17.2_ENST00000501338.1_Intron	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	670					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTTCAGCTAGTTGGGTAAGGC	0.403																																						uc003kmq.2		NA																	0					0						c.(2008-2010)GTT>GCT		endoplasmic reticulum aminopeptidase 2							121.0	117.0	118.0					5																	96239261		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96239261T>C	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.2009T>C	5.37:g.96239261T>C	ENSP00000400376:p.Val670Ala					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.V670A|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.V619A|ERAP2_uc003kmu.2_RNA	p.V670A	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	13	2719	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	670			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.2009T>C	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	T	9.808	1.182423	0.21870	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000379904	T;T;T	0.05717	3.4;3.4;3.4	4.94	4.94	0.65067	.	0.246047	0.32473	N	0.006048	T	0.05456	0.0144	L	0.31804	0.96	0.80722	D	1	B;B	0.22604	0.072;0.041	B;B	0.28139	0.076;0.086	T	0.09907	-1.0653	10	0.02654	T	1	.	13.8782	0.63667	0.0:0.0:0.0:1.0	.	625;670	Q6P179-3;Q6P179	.;ERAP2_HUMAN	A	670;670;625	ENSP00000400376:V670A;ENSP00000421175:V670A;ENSP00000369235:V625A	ENSP00000369235:V625A	V	+	2	0	ERAP2	96265017	1.000000	0.71417	0.992000	0.48379	0.446000	0.32137	5.377000	0.66184	1.982000	0.57802	0.460000	0.39030	GTT		0.403	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		4	38	0	0	0	0	4	38				
MEGF10	84466	broad.mit.edu	37	5	126784914	126784914	+	Splice_Site	SNP	G	G	A	rs559266378		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:126784914G>A	ENST00000274473.6	+	23	3247	c.2980G>A	c.(2980-2982)Ggt>Agt	p.G994S	MEGF10_ENST00000510828.1_3'UTR|MEGF10_ENST00000503335.2_Splice_Site_p.G994S	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	994	Necessary for formation of large intracellular vacuoles.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CAACGAGCTCGGTGAGTTCTC	0.532																																						uc003kuh.3		NA																	0				ovary(4)	4						c.(2980-2982)GGT>AGT		multiple EGF-like-domains 10 precursor							60.0	60.0	60.0					5																	126784914		2203	4300	6503	SO:0001630	splice_region_variant	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126784914G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2980+1G>A	5.37:g.126784914G>A						MEGF10_uc003kui.3_Missense_Mutation_p.G994S	p.G994S	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	23	3342	+		Prostate(80;0.165)	994			Cytoplasmic (Potential).|Necessary for formation of large intracellular vacuoles.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.2980G>A	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878904	0.72294	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	D;D	0.83992	-1.79;-1.79	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	L	0.54323	1.7	0.80722	D	1	B	0.28783	0.222	B	0.12837	0.008	T	0.78231	-0.2284	10	0.56958	D	0.05	-17.2731	19.7728	0.96373	0.0:0.0:1.0:0.0	.	994	Q96KG7	MEG10_HUMAN	S	994	ENSP00000423354:G994S;ENSP00000274473:G994S	ENSP00000274473:G994S	G	+	1	0	MEGF10	126812813	1.000000	0.71417	0.698000	0.30274	0.336000	0.28762	9.294000	0.96088	2.687000	0.91594	0.655000	0.94253	GGT		0.532	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	Missense_Mutation	4	77	0	0	0	0	4	77				
PCDHA1	56147	broad.mit.edu	37	5	140166069	140166069	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140166069G>A	ENST00000504120.2	+	1	194	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65Q|PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65Q	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R65L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGTTCCGGGTGGCGTCC	0.587																																						uc003lhb.2		NA																	2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(193-195)CGG>CAG		protocadherin alpha 1 isoform 1 precursor							65.0	71.0	69.0					5																	140166069		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140166069G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.194G>A	5.37:g.140166069G>A	ENSP00000420840:p.Arg65Gln					PCDHA1_uc003lha.2_Missense_Mutation_p.R65Q|PCDHA1_uc003lgz.2_Missense_Mutation_p.R65Q	p.R65Q	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	194	+			65			Cadherin 1.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.194G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	16.78	3.217174	0.58560	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.35789	1.29;1.29;1.29	4.31	4.31	0.51392	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.38897	U	0.001524	T	0.54191	0.1843	M	0.66297	2.02	0.40072	D	0.976027	P;D;P	0.69078	0.879;0.997;0.93	B;P;B	0.58780	0.142;0.845;0.352	T	0.61831	-0.6982	10	0.59425	D	0.04	.	17.1232	0.86707	0.0:0.0:1.0:0.0	.	65;65;65	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	Q	65	ENSP00000420840:R65Q;ENSP00000378129:R65Q;ENSP00000367373:R65Q	ENSP00000367373:R65Q	R	+	2	0	PCDHA1	140146253	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	7.977000	0.88081	2.127000	0.65507	0.650000	0.86243	CGG		0.587	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		17	105	0	0	0	0	17	105				
PCDHGB3	56102	broad.mit.edu	37	5	140751849	140751849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:140751849C>T	ENST00000576222.1	+	1	2019	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	630	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCACGGCGCGTACCTTGGG	0.662																																						uc003ljw.1		NA																	0					0						c.(1888-1890)CGT>TGT		protocadherin gamma subfamily B, 3 isoform 1							36.0	42.0	40.0					5																	140751849		2157	4256	6413	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751849C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1888C>T	5.37:g.140751849C>T	ENSP00000461862:p.Arg630Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R630C|PCDHGA6_uc011dau.1_5'Flank	p.R630C	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1888	+			630			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1888C>T	CCDS58980.1																																																																																				0.662	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		11	98	0	0	0	0	11	98				
GPR151	134391	broad.mit.edu	37	5	145895392	145895392	+	Silent	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:145895392T>C	ENST00000311104.2	-	1	361	c.285A>G	c.(283-285)cgA>cgG	p.R95R		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTAGCTCGGATAGGTG	0.502																																					Pancreas(78;420 1386 18535 37114 49710)	uc003lod.1		NA																	0				ovary(1)|pancreas(1)	2						c.(283-285)CGA>CGG		G protein-coupled receptor 151							123.0	121.0	122.0					5																	145895392		2203	4300	6503	SO:0001819	synonymous_variant	134391					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr5:145895392T>C	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.285A>G	5.37:g.145895392T>C							p.R95R	NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	285	-			95			Extracellular (Potential).		Q86SN8|Q8NGV2	Silent	SNP	ENST00000311104.2	37	c.285A>G	CCDS34266.1																																																																																				0.502	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373457.1	NM_194251		11	68	0	0	0	0	11	68				
NSD1	64324	broad.mit.edu	37	5	176715829	176715829	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:176715829T>G	ENST00000439151.2	+	21	6206	c.6161T>G	c.(6160-6162)cTt>cGt	p.L2054R	NSD1_ENST00000347982.4_Missense_Mutation_p.L1785R|NSD1_ENST00000354179.4_Missense_Mutation_p.L1785R|NSD1_ENST00000361032.4_Missense_Mutation_p.L1951R	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2054	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCACTGAACTTACCTTCAAC	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												uc003mfr.3		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				ovary(2)|kidney(1)	3						c.(6160-6162)CTT>CGT		nuclear receptor binding SET domain protein 1							135.0	133.0	134.0					5																	176715829		2203	4300	6503	SO:0001583	missense	64324	Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176715829T>G	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.6161T>G	5.37:g.176715829T>G	ENSP00000395929:p.Leu2054Arg	HNSCC(47;0.14)				NSD1_uc003mft.3_Missense_Mutation_p.L1785R|NSD1_uc011dfx.1_Missense_Mutation_p.L1702R	p.L2054R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	21	6299	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	2054			SET.		Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.6161T>G	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644150	0.87859	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96104	-3.91;-3.91;-3.91;-3.91	5.64	5.64	0.86602	SET domain (3);	0.000000	0.48767	D	0.000163	D	0.98972	0.9650	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.98951	1.0794	10	0.87932	D	0	.	15.5422	0.76062	0.0:0.0:0.0:1.0	.	1785;2054	Q96L73-2;Q96L73	.;NSD1_HUMAN	R	1785;2054;1785;1951	ENSP00000346111:L1785R;ENSP00000395929:L2054R;ENSP00000343209:L1785R;ENSP00000354310:L1951R	ENSP00000343209:L1785R	L	+	2	0	NSD1	176648435	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.981000	0.88123	2.145000	0.66743	0.533000	0.62120	CTT		0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		4	86	0	0	0	0	4	86				
MAPK9	5601	broad.mit.edu	37	5	179676105	179676105	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr5:179676105C>G	ENST00000452135.2	-	6	782	c.484G>C	c.(484-486)Gac>Cac	p.D162H	MAPK9_ENST00000539014.1_Missense_Mutation_p.D162H|MAPK9_ENST00000393360.3_Missense_Mutation_p.D162H|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000347470.4_Missense_Mutation_p.D162H|MAPK9_ENST00000343111.6_Missense_Mutation_p.D162H|MAPK9_ENST00000425491.2_Missense_Mutation_p.D162H|MAPK9_ENST00000455781.1_Missense_Mutation_p.D162H|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	162	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGGTGCAGTCTGATTTCACA	0.463																																						uc003mls.3		NA																	0				central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)	4						c.(484-486)GAC>CAC		mitogen-activated protein kinase 9 isoform JNK2							99.0	98.0	98.0					5																	179676105		2203	4300	6503	SO:0001583	missense	5601				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding|protein binding	g.chr5:179676105C>G	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.484G>C	5.37:g.179676105C>G	ENSP00000394560:p.Asp162His					MAPK9_uc003mlt.3_Missense_Mutation_p.D162H|MAPK9_uc010jlc.2_Missense_Mutation_p.D162H|MAPK9_uc003mlv.3_Missense_Mutation_p.D162H|MAPK9_uc011dgx.1_Missense_Mutation_p.D162H	p.D162H	NM_002752	NP_002743	P45984	MK09_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	755	-	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	162			Protein kinase.		A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	37	c.484G>C	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459514	0.84317	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000425491;ENST00000539014	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.58	5.58	0.84498	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054032	0.64402	N	0.000001	D	0.88804	0.6536	M	0.71581	2.175	0.80722	D	1	B;B;B;B;B	0.31611	0.331;0.13;0.051;0.21;0.157	B;B;B;B;B	0.41723	0.272;0.278;0.138;0.278;0.365	D	0.88266	0.2926	10	0.87932	D	0	-14.7459	19.6416	0.95760	0.0:1.0:0.0:0.0	.	162;162;162;162;162	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	H	162	ENSP00000394560:D162H;ENSP00000377028:D162H;ENSP00000389338:D162H;ENSP00000345524:D162H;ENSP00000321410:D162H;ENSP00000397422:D162H;ENSP00000443149:D162H	ENSP00000345524:D162H	D	-	1	0	MAPK9	179608711	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.711000	0.84669	2.635000	0.89317	0.644000	0.83932	GAC		0.463	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3			12	96	0	0	0	0	12	96				
CAP2	10486	broad.mit.edu	37	6	17551730	17551730	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:17551730G>A	ENST00000229922.2	+	12	1777	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	CAP2_ENST00000489374.1_Silent_p.K303K|CAP2_ENST00000465994.1_Silent_p.K351K|CAP2_ENST00000493172.1_Silent_p.K155K|CAP2_ENST00000378990.2_Silent_p.K389K	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	415	C-CAP/cofactor C-like. {ECO:0000255|PROSITE-ProRule:PRU00659}.				activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CCATTAATAAGACAGAAGGTT	0.408																																						uc003ncb.2		NA																	0				ovary(1)	1						c.(1243-1245)AAG>AAA		adenylyl cyclase-associated protein 2							132.0	122.0	125.0					6																	17551730		2203	4300	6503	SO:0001819	synonymous_variant	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17551730G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.1245G>A	6.37:g.17551730G>A						CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.K389K|CAP2_uc011djb.1_Silent_p.K351K|CAP2_uc011djc.1_Silent_p.K303K|CAP2_uc011djd.1_Silent_p.K155K	p.K415K	NM_006366	NP_006357	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		12	1488	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	415			C-CAP/cofactor C-like.		B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Silent	SNP	ENST00000229922.2	37	c.1245G>A	CCDS4539.1																																																																																				0.408	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			10	66	0	0	0	0	10	66				
NHLRC1	378884	broad.mit.edu	37	6	18121917	18121917	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18121917C>T	ENST00000340650.3	-	1	934	c.921G>A	c.(919-921)gtG>gtA	p.V307V		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	307					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CAAAGGTATCCACTTGGCCGA	0.547																																						uc003ncl.1		NA																	0					0						c.(919-921)GTG>GTA		NHL repeat containing 1							72.0	68.0	69.0					6																	18121917		2203	4300	6503	SO:0001819	synonymous_variant	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18121917C>T	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.921G>A	6.37:g.18121917C>T							p.V307V	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	935	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	307			NHL 5.		Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	ENST00000340650.3	37	c.921G>A	CCDS4542.1																																																																																				0.547	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			16	61	0	0	0	0	16	61				
NHLRC1	378884	broad.mit.edu	37	6	18122747	18122747	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:18122747C>G	ENST00000340650.3	-	1	104	c.91G>C	c.(91-93)Gag>Cag	p.E31Q		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	31					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CCAAACTTCTCAAAGCACACC	0.706																																						uc003ncl.1		NA																	0					0						c.(91-93)GAG>CAG		NHL repeat containing 1							23.0	23.0	23.0					6																	18122747		2111	4127	6238	SO:0001583	missense	378884				proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:18122747C>G	AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.91G>C	6.37:g.18122747C>G	ENSP00000345464:p.Glu31Gln						p.E31Q	NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	all cancers(50;0.0451)|Epithelial(50;0.0493)		1	105	-	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	31			RING-type.		Q3SYB1|Q5VUK7|Q6IMH1	Missense_Mutation	SNP	ENST00000340650.3	37	c.91G>C	CCDS4542.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.425933	0.83667	.	.	ENSG00000187566	ENST00000340650	D	0.87334	-2.24	5.02	4.15	0.48705	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.055157	0.64402	D	0.000001	D	0.87637	0.6227	L	0.42581	1.335	0.38650	D	0.951826	D	0.89917	1.0	D	0.76071	0.987	D	0.89338	0.3652	10	0.72032	D	0.01	-24.5953	13.1337	0.59397	0.0:0.9226:0.0:0.0774	.	31	Q6VVB1	NHLC1_HUMAN	Q	31	ENSP00000345464:E31Q	ENSP00000345464:E31Q	E	-	1	0	NHLRC1	18230726	1.000000	0.71417	0.978000	0.43139	0.987000	0.75469	6.620000	0.74224	1.094000	0.41399	0.655000	0.94253	GAG		0.706	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039958.1			7	35	0	0	0	0	7	35				
KAAG1	353219	broad.mit.edu	37	6	24357946	24357946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:24357946C>T	ENST00000274766.1	+	1	816	c.79C>T	c.(79-81)Cag>Tag	p.Q27*	DCDC2_ENST00000378454.3_Silent_p.L11L	NM_181337.3	NP_851854.1	Q9UBP8	KAAG1_HUMAN	kidney associated antigen 1	27					immune response (GO:0006955)					central_nervous_system(1)|lung(1)|prostate(1)	3						CGGGCTGAGACAGGTGGCTGG	0.687																																						uc003ndz.1		NA																	0					0						c.(79-81)CAG>TAG		kidney associated antigen 1							36.0	37.0	36.0					6																	24357946		2203	4300	6503	SO:0001587	stop_gained	353219				immune response			g.chr6:24357946C>T	AF181722	CCDS4551.1	6p22.1	2010-11-23			ENSG00000146049	ENSG00000146049			21031	protein-coding gene	gene with protein product		608211				10601354	Standard	NM_181337		Approved	RU2, RU2AS	uc003ndz.1	Q9UBP8	OTTHUMG00000014354	ENST00000274766.1:c.79C>T	6.37:g.24357946C>T	ENSP00000274766:p.Gln27*					DCDC2_uc003ndx.2_Silent_p.L11L|DCDC2_uc003ndy.2_Silent_p.L11L	p.Q27*	NM_181337	NP_851854	Q9UBP8	KAAG1_HUMAN			1	816	+			27						Nonsense_Mutation	SNP	ENST00000274766.1	37	c.79C>T	CCDS4551.1	.	.	.	.	.	.	.	.	.	.	C	44	10.757745	0.99462	.	.	ENSG00000146049	ENST00000274766	.	.	.	5.6	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.0519	11.0036	0.47620	0.1276:0.5971:0.2753:0.0	.	.	.	.	X	27	.	ENSP00000274766:Q27X	Q	+	1	0	KAAG1	24465925	0.998000	0.40836	0.998000	0.56505	0.986000	0.74619	0.605000	0.24179	1.335000	0.45486	0.650000	0.86243	CAG		0.687	KAAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040001.1			11	64	0	0	0	0	11	64				
ZSCAN31	64288	broad.mit.edu	37	6	28294045	28294045	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:28294045G>C	ENST00000414429.1	-	8	2022	c.1119C>G	c.(1117-1119)caC>caG	p.H373Q	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.H373Q|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.H214Q|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.H373Q			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	373					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)										TCTCACCAGTGTGGACTCGGA	0.473																																						uc003nla.2		NA																	0				ovary(1)|skin(1)	2						c.(1117-1119)CAC>CAG		zinc finger protein 323							218.0	216.0	216.0					6																	28294045		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28294045G>C		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1119C>G	6.37:g.28294045G>C	ENSP00000390076:p.His373Gln					ZNF323_uc003nld.2_Missense_Mutation_p.H373Q|ZNF323_uc010jra.2_Missense_Mutation_p.H373Q|ZNF323_uc003nlb.2_Missense_Mutation_p.H214Q|ZNF323_uc010jrb.2_Missense_Mutation_p.H214Q|ZNF323_uc003nlc.2_Missense_Mutation_p.H373Q	p.H373Q	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			4	1519	-			373			C2H2-type 5.		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.1119C>G	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168939	0.57584	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	5.06	2.25	0.28309	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.79713	0.4493	H	0.95294	3.65	0.25178	N	0.990223	D	0.89917	1.0	D	0.91635	0.999	T	0.69533	-0.5120	9	0.87932	D	0	.	8.6607	0.34091	0.3296:0.0:0.6704:0.0	.	373	Q96LW9	ZN323_HUMAN	Q	373;373;373;214;373	ENSP00000380050:H373Q;ENSP00000413705:H373Q;ENSP00000390076:H373Q;ENSP00000402937:H214Q;ENSP00000345339:H373Q	ENSP00000345339:H373Q	H	-	3	2	ZNF323	28402024	1.000000	0.71417	0.699000	0.30290	0.761000	0.43186	3.047000	0.49854	0.631000	0.30412	-0.145000	0.13849	CAC		0.473	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		25	232	0	0	0	0	25	232				
HLA-A	3105	broad.mit.edu	37	6	29910405	29910405	+	Splice_Site	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:29910405T>G	ENST00000396634.1	+	3	414		c.e3+2		HLA-A_ENST00000376809.5_Splice_Site|HLA-A_ENST00000376802.2_Splice_Site|HLA-A_ENST00000376806.5_Splice_Site			P16189	1A31_HUMAN	major histocompatibility complex, class I, A						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CCTGGGCGGGTGAGTGCGGGG	0.736									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												uc003nol.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.e1+2		major histocompatibility complex, class I, A							19.0	22.0	21.0					6																	29910405		2198	4291	6489	SO:0001630	splice_region_variant	3105	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29910405T>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.73+2T>G	6.37:g.29910405T>G		Multiple Myeloma(9;0.094)				HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_Splice_Site|HLA-A_uc003nok.2_Splice_Site|HLA-A_uc003non.2_Splice_Site_p.G25_splice|HLA-A_uc003noo.2_Splice_Site_p.G25_splice|HLA-A_uc010jrr.2_Splice_Site_p.G25_splice|HLA-A_uc003nom.2_Splice_Site|HLA-A_uc010klp.2_5'Flank|HLA-A_uc011dmc.1_5'Flank|HLA-A_uc011dmd.1_5'Flank	p.G25_splice	NM_002116	NP_002107	P30443	1A01_HUMAN			1	73	+								O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Splice_Site	SNP	ENST00000396634.1	37	c.73_splice	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	t	14.71	2.617350	0.46736	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809;ENST00000355767;ENST00000376802	.	.	.	4.25	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.152	0.42801	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-A	30018384	0.999000	0.42202	0.998000	0.56505	0.560000	0.35617	1.604000	0.36804	1.715000	0.51383	0.391000	0.25812	.		0.736	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116	Intron	11	45	0	0	0	0	11	45				
AGPAT1	10554	broad.mit.edu	37	6	32138238	32138238	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:32138238G>A	ENST00000395499.1	-	4	1053	c.474C>T	c.(472-474)gtC>gtT	p.V158V	AGPAT1_ENST00000412465.2_Silent_p.V46V|AGPAT1_ENST00000375104.2_Silent_p.V158V|AGPAT1_ENST00000375107.3_Silent_p.V158V|AGPAT1_ENST00000336984.6_Silent_p.V158V|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395497.1_Silent_p.V158V|AGPAT1_ENST00000395496.1_Silent_p.V158V|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	158					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						CCTCAGACATGACACTGATGG	0.592																																						uc003oae.2		NA																	0				central_nervous_system(1)	1						c.(472-474)GTC>GTT		1-acylglycerol-3-phosphate O-acyltransferase 1							81.0	84.0	83.0					6																	32138238		1511	2709	4220	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138238G>A	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.474C>T	6.37:g.32138238G>A						PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.V122V|AGPAT1_uc003oaf.2_Silent_p.V158V|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.V158V|AGPAT1_uc003oai.1_Silent_p.V158V|AGPAT1_uc011dpl.1_Silent_p.V46V	p.V158V	NM_006411	NP_006402	Q99943	PLCA_HUMAN			4	792	-			158					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.474C>T	CCDS4744.1																																																																																				0.592	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		8	75	0	0	0	0	8	75				
UQCC2	84300	broad.mit.edu	37	6	33679329	33679329	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:33679329G>A	ENST00000607484.1	-	1	175	c.135C>T	c.(133-135)acC>acT	p.T45T	UQCC2_ENST00000374214.3_Silent_p.T45T	NM_032340.3	NP_115716.1	Q9BRT2	UQCC2_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 2	45					regulation of insulin secretion (GO:0050796)|regulation of oxidative phosphorylation (GO:0002082)|regulation of skeletal muscle cell differentiation (GO:2001014)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CGGTCACCTGGGTATTCTCTC	0.687																																						uc003ofa.1		NA																	0					0						c.(133-135)ACC>ACT		hypothetical protein LOC84300							38.0	41.0	40.0					6																	33679329		2203	4300	6503	SO:0001819	synonymous_variant	84300							g.chr6:33679329G>A		CCDS4784.1	6p21.31	2013-09-20	2013-09-20	2013-09-20	ENSG00000137288	ENSG00000137288		"""Mitochondrial respiratory chain complex assembly factors"""	21237	protein-coding gene	gene with protein product	"""cytochrome B protein synthesis 6 homolog (S. cerevisiae)"""	614461	"""chromosome 6 open reading frame 125"", ""mitochondrial nucleoid factor 1"""	C6orf125, MNF1		19643811	Standard	NM_032340		Approved	MGC14833, bA6B20.2, M19, Cbp6	uc003ofa.2	Q9BRT2	OTTHUMG00000014534	ENST00000607484.1:c.135C>T	6.37:g.33679329G>A						C6orf125_uc010jve.1_RNA	p.T45T	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN			1	176	-			45					B2R4I0	Silent	SNP	ENST00000607484.1	37	c.135C>T	CCDS4784.1																																																																																				0.687	UQCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040207.2	NM_032340		7	43	0	0	0	0	7	43				
SUPT3H	8464	broad.mit.edu	37	6	44988309	44988309	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:44988309G>A	ENST00000371459.1	-	4	412	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	SUPT3H_ENST00000371461.2_Missense_Mutation_p.L94F|SUPT3H_ENST00000306867.5_Missense_Mutation_p.L83F|SUPT3H_ENST00000371460.1_Missense_Mutation_p.L94F	NM_001261823.1|NM_003599.3	NP_001248752.1|NP_003590.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	165					chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	transcription coactivator activity (GO:0003713)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						AAAAACAGAAGATCTTCAGGA	0.328																																						uc003oxo.2		NA																	0				ovary(2)|breast(1)	3						c.(280-282)CTT>TTT		suppressor of Ty 3 homolog isoform 2							54.0	56.0	55.0					6																	44988309		2203	4298	6501	SO:0001583	missense	8464				histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	g.chr6:44988309G>A	AF069734	CCDS34465.1, CCDS34466.1, CCDS75464.1	6p21.1-p12.3	2008-05-15	2001-11-28		ENSG00000196284	ENSG00000196284			11466	protein-coding gene	gene with protein product		602947	"""suppressor of Ty (S.cerevisiae) 3 homolog"""			9674425, 9726987	Standard	NM_003599		Approved	SPT3, SPT3L	uc003oxp.4	O75486	OTTHUMG00000014773	ENST00000371459.1:c.247C>T	6.37:g.44988309G>A	ENSP00000360514:p.Leu83Phe					SUPT3H_uc003oxn.1_Missense_Mutation_p.L83F|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Missense_Mutation_p.L83F|SUPT3H_uc011dvw.1_5'UTR	p.L94F	NM_181356	NP_852001	O75486	SUPT3_HUMAN			6	598	-			165					A6NKG9|B2R9Q5|O76066|Q5TAV9|Q86VN7	Missense_Mutation	SNP	ENST00000371459.1	37	c.280C>T	CCDS34465.1	.	.	.	.	.	.	.	.	.	.	G	12.90	2.075826	0.36662	.	.	ENSG00000196284	ENST00000371460;ENST00000371459;ENST00000306867;ENST00000371461	T;T;T;T	0.58797	0.31;0.52;0.52;0.31	6.17	6.17	0.99709	.	0.051271	0.85682	D	0.000000	T	0.59362	0.2188	L	0.28344	0.845	0.50467	D	0.999878	B;D	0.76494	0.062;0.999	B;D	0.83275	0.046;0.996	T	0.54970	-0.8213	10	0.34782	T	0.22	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	94;165	O75486-3;O75486	.;SUPT3_HUMAN	F	94;83;83;94	ENSP00000360515:L94F;ENSP00000360514:L83F;ENSP00000306718:L83F;ENSP00000360516:L94F	ENSP00000306718:L83F	L	-	1	0	SUPT3H	45096287	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.895000	0.56258	2.941000	0.99782	0.655000	0.94253	CTT		0.328	SUPT3H-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106911.2	NM_181356		4	32	0	0	0	0	4	32				
PHIP	55023	broad.mit.edu	37	6	79668289	79668289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:79668289G>A	ENST00000275034.4	-	32	3852	c.3685C>T	c.(3685-3687)Cga>Tga	p.R1229*	AL356776.1_ENST00000516160.2_RNA|PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1229	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TCTATATATCGAACTTCCCAC	0.313																																						uc003pir.2		NA																	0				large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(3685-3687)CGA>TGA		pleckstrin homology domain interacting protein							55.0	53.0	54.0					6																	79668289		2203	4299	6502	SO:0001587	stop_gained	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79668289G>A	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.3685C>T	6.37:g.79668289G>A	ENSP00000275034:p.Arg1229*					PHIP_uc003piq.2_Nonsense_Mutation_p.R253*|PHIP_uc011dyp.1_Nonsense_Mutation_p.R1228*|PHIP_uc003pio.3_Nonsense_Mutation_p.R115*	p.R1229*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	32	3911	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1229			Bromo 1.		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Nonsense_Mutation	SNP	ENST00000275034.4	37	c.3685C>T	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	45	11.381769	0.99554	.	.	ENSG00000146247	ENST00000275034	.	.	.	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-10.7328	19.2604	0.93966	0.0:0.0:1.0:0.0	.	.	.	.	X	1229	.	.	R	-	1	2	PHIP	79725008	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.987000	0.88182	2.793000	0.96121	0.563000	0.77884	CGA		0.313	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			6	42	0	0	0	0	6	42				
DOPEY1	23033	broad.mit.edu	37	6	83841951	83841951	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:83841951G>A	ENST00000349129.2	+	18	2933	c.2673G>A	c.(2671-2673)caG>caA	p.Q891Q	DOPEY1_ENST00000369739.3_Silent_p.Q882Q|DOPEY1_ENST00000237163.5_Silent_p.Q872Q	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	891					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AGCATCACCAGAAGAGTGTGG	0.373																																						uc003pjs.1		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(2671-2673)CAG>CAA		dopey family member 1							150.0	146.0	147.0					6																	83841951		2203	4300	6503	SO:0001819	synonymous_variant	23033				protein transport			g.chr6:83841951G>A	AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2673G>A	6.37:g.83841951G>A						DOPEY1_uc011dyy.1_Silent_p.Q882Q|DOPEY1_uc010kbl.1_Silent_p.Q882Q	p.Q891Q	NM_015018	NP_055833	Q5JWR5	DOP1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.053)	18	2933	+		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)	891					Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	ENST00000349129.2	37	c.2673G>A	CCDS4996.1																																																																																				0.373	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		5	82	0	0	0	0	5	82				
HTR1E	3354	broad.mit.edu	37	6	87725377	87725377	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87725377T>C	ENST00000305344.5	+	2	1028	c.325T>C	c.(325-327)Tcc>Ccc	p.S109P		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	109					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CTGCACCTGCTCCATCCTCCA	0.562																																						uc003pli.2		NA																	0				ovary(2)|skin(1)	3						c.(325-327)TCC>CCC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						126.0	100.0	109.0					6																	87725377		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725377T>C		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.325T>C	6.37:g.87725377T>C	ENSP00000307766:p.Ser109Pro						p.S109P	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1028	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	109			Helical; Name=3; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.325T>C	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889768	0.72524	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.55930	0.49;0.49	4.57	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	U	0.000025	T	0.80914	0.4715	H	0.99286	4.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88876	0.3336	10	0.87932	D	0	.	13.9148	0.63890	0.0:0.0:0.0:1.0	.	109	P28566	5HT1E_HUMAN	P	109	ENSP00000307766:S109P;ENSP00000358597:S109P	ENSP00000307766:S109P	S	+	1	0	HTR1E	87782096	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.528000	0.81941	1.694000	0.51137	0.332000	0.21555	TCC		0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		10	89	0	0	0	0	10	89				
ZNF292	23036	broad.mit.edu	37	6	87971506	87971506	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:87971506G>A	ENST00000369577.3	+	8	8202	c.8159G>A	c.(8158-8160)aGa>aAa	p.R2720K	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2715K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2720						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)		GCCACAGGCAGAGGTCAGTAC	0.318																																						uc003plm.3		NA																	0				ovary(4)	4						c.(8158-8160)AGA>AAA		zinc finger protein 292							43.0	41.0	42.0					6																	87971506		1822	4071	5893	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87971506G>A	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.8159G>A	6.37:g.87971506G>A	ENSP00000358590:p.Arg2720Lys						p.R2720K	NM_015021	NP_055836	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	8200	+		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)	2720					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.8159G>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.508297	0.27036	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06687	3.27;3.28	6.05	4.06	0.47325	.	0.307616	0.28665	N	0.014554	T	0.02047	0.0064	L	0.36672	1.1	0.26132	N	0.980409	B	0.10296	0.003	B	0.09377	0.004	T	0.38866	-0.9641	10	0.62326	D	0.03	.	2.2339	0.04003	0.2978:0.0:0.4534:0.2488	.	2720	O60281	ZN292_HUMAN	K	2720;2715	ENSP00000358590:R2720K;ENSP00000342847:R2715K	ENSP00000342847:R2715K	R	+	2	0	ZNF292	88028225	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.292000	0.43549	1.565000	0.49641	0.650000	0.86243	AGA		0.318	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	33	0	0	0	0	4	33				
SOBP	55084	broad.mit.edu	37	6	107956508	107956508	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:107956508G>T	ENST00000317357.5	+	6	3119	c.2460G>T	c.(2458-2460)atG>atT	p.M820I	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCTGCGGATGCTGCCCAAGA	0.647																																						uc003prx.2		NA																	0				ovary(1)	1						c.(2458-2460)ATG>ATT		sine oculis binding protein homolog							62.0	76.0	72.0					6																	107956508		2127	4242	6369	SO:0001583	missense	55084						metal ion binding	g.chr6:107956508G>T	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2460G>T	6.37:g.107956508G>T	ENSP00000318900:p.Met820Ile						p.M820I	NM_018013	NP_060483	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	6	2964	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	820						Missense_Mutation	SNP	ENST00000317357.5	37	c.2460G>T	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793743	0.50102	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.23348	1.91	4.7	4.7	0.59300	.	0.727960	0.11141	U	0.595272	T	0.11750	0.0286	N	0.19112	0.55	0.37033	D	0.89678	B	0.24092	0.097	B	0.31812	0.136	T	0.14144	-1.0483	10	0.30078	T	0.28	-4.3154	17.6084	0.88045	0.0:0.0:1.0:0.0	.	820	A7XYQ1	SOBP_HUMAN	I	820;215	ENSP00000318900:M820I	ENSP00000230065:M215I	M	+	3	0	SOBP	108063201	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.204000	0.58460	2.130000	0.65690	0.462000	0.41574	ATG		0.647	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		18	122	1	0	9.17e-09	1.66e-08	18	122				
SYNJ2	8871	broad.mit.edu	37	6	158516741	158516741	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:158516741C>T	ENST00000355585.4	+	27	3911	c.3836C>T	c.(3835-3837)aCa>aTa	p.T1279I	SYNJ2_ENST00000367112.1_Missense_Mutation_p.T364I|SYNJ2_ENST00000367122.2_Missense_Mutation_p.T1234I	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1279	Pro-rich.				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)		CCTGTCGTGACAGCCCCTCGA	0.567																																						uc003qqx.1		NA																	0				skin(1)	1						c.(3835-3837)ACA>ATA		synaptojanin 2							55.0	59.0	58.0					6																	158516741		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158516741C>T	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.3836C>T	6.37:g.158516741C>T	ENSP00000347792:p.Thr1279Ile					SYNJ2_uc003qqy.1_Missense_Mutation_p.T992I|SYNJ2_uc003qqz.1_Missense_Mutation_p.T896I|SYNJ2_uc003qra.1_Missense_Mutation_p.T622I|SYNJ2_uc010kjp.1_Missense_Mutation_p.T162I	p.T1279I	NM_003898	NP_003889	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	27	3911	+			1279			Catalytic (By similarity).|Pro-rich.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.3836C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	7.938	0.742229	0.15642	.	.	ENSG00000078269	ENST00000367122;ENST00000355585;ENST00000367112	D;D;T	0.92805	-3.1;-3.11;0.87	4.96	2.04	0.26737	.	0.818547	0.10905	N	0.621171	T	0.70945	0.3282	L	0.36672	1.1	0.09310	N	1	P;P	0.40431	0.717;0.544	B;B	0.31869	0.137;0.07	T	0.62196	-0.6905	10	0.38643	T	0.18	.	3.5637	0.07892	0.1729:0.5666:0.1675:0.0929	.	674;1279	B4DLC4;O15056	.;SYNJ2_HUMAN	I	1234;1279;364	ENSP00000356089:T1234I;ENSP00000347792:T1279I;ENSP00000356079:T364I	ENSP00000347792:T1279I	T	+	2	0	SYNJ2	158436729	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	0.710000	0.25748	-0.606000	0.05746	-0.263000	0.10527	ACA		0.567	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			10	65	0	0	0	0	10	65				
STAG3	10734	broad.mit.edu	37	7	99794806	99794806	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:99794806C>T	ENST00000426455.1	+	10	1376	c.969C>T	c.(967-969)atC>atT	p.I323I	STAG3_ENST00000317296.5_Silent_p.I323I|STAG3_ENST00000394018.2_Silent_p.I265I	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	323	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCGTGCTATCTGCATTGAGG	0.453																																						uc003utx.1		NA																	0				ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(967-969)ATC>ATT		stromal antigen 3							13.0	15.0	14.0					7																	99794806		2068	4185	6253	SO:0001819	synonymous_variant	10734				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	g.chr7:99794806C>T	AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.969C>T	7.37:g.99794806C>T						STAG3_uc010lgs.1_Silent_p.I111I|STAG3_uc011kjk.1_Silent_p.I265I	p.I323I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN			10	1124	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		323			SCD.		A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Silent	SNP	ENST00000426455.1	37	c.969C>T	CCDS34703.1																																																																																				0.453	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447		31	244	0	0	0	0	31	244				
LRRN3	54674	broad.mit.edu	37	7	110763864	110763864	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:110763864C>T	ENST00000422987.3	+	2	1867	c.1036C>T	c.(1036-1038)Ctc>Ttc	p.L346F	IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.L346F|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L346F	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	346					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CAGCAATGCTCTCAGTGCCCT	0.453																																						uc003vft.3		NA																	0				skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(1036-1038)CTC>TTC		leucine rich repeat neuronal 3 precursor							105.0	97.0	100.0					7																	110763864		2203	4300	6503	SO:0001583	missense	54674					integral to membrane		g.chr7:110763864C>T	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1036C>T	7.37:g.110763864C>T	ENSP00000412417:p.Leu346Phe					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.L346F|LRRN3_uc003vfs.3_Missense_Mutation_p.L346F	p.L346F	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	2082	+			346			Extracellular (Potential).|LRR 12.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.1036C>T	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.966961	0.74131	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.68903	-0.36;-0.36;-0.36	5.81	5.81	0.92471	.	0.000000	0.53938	D	0.000050	D	0.83894	0.5353	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85020	0.0911	10	0.87932	D	0	.	20.0656	0.97703	0.0:1.0:0.0:0.0	.	346	Q9H3W5	LRRN3_HUMAN	F	346	ENSP00000312001:L346F;ENSP00000397312:L346F;ENSP00000412417:L346F	ENSP00000312001:L346F	L	+	1	0	LRRN3	110551100	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	6.070000	0.71220	2.747000	0.94245	0.650000	0.86243	CTC		0.453	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334		16	71	0	0	0	0	16	71				
FEZF1	389549	broad.mit.edu	37	7	121943818	121943818	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:121943818T>G	ENST00000442488.2	-	1	741	c.674A>C	c.(673-675)cAg>cCg	p.Q225P	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000427185.2_Missense_Mutation_p.Q175P|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.Q225P	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	225					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						ATGCTGCAGCTGAGCCTGGGA	0.507																																						uc003vkd.2		NA																	0		p.Q225H(1)		ovary(2)|breast(1)	3						c.(673-675)CAG>CCG		FEZ family zinc finger 1 isoform 1							75.0	82.0	80.0					7																	121943818		2203	4300	6503	SO:0001583	missense	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121943818T>G	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.674A>C	7.37:g.121943818T>G	ENSP00000411145:p.Gln225Pro					FEZF1_uc003vkc.2_Missense_Mutation_p.Q175P|uc010lko.1_RNA|uc003vkf.1_5'Flank	p.Q225P	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			1	748	-			225					A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	c.674A>C	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376267	0.42105	.	.	ENSG00000128610	ENST00000442488;ENST00000331178;ENST00000427185	T;T;T	0.08008	3.14;3.3;3.21	5.24	5.24	0.73138	.	0.108661	0.64402	D	0.000004	T	0.13286	0.0322	N	0.19112	0.55	0.51767	D	0.999937	D;D	0.64830	0.99;0.994	P;P	0.59424	0.676;0.857	T	0.23368	-1.0190	10	0.28530	T	0.3	-23.6628	15.4269	0.75059	0.0:0.0:0.0:1.0	.	225;175	A0PJY2;A0PJY2-2	FEZF1_HUMAN;.	P	225;225;175	ENSP00000411145:Q225P;ENSP00000332777:Q225P;ENSP00000392727:Q175P	ENSP00000332777:Q225P	Q	-	2	0	FEZF1	121731054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.413000	0.80104	2.097000	0.63578	0.454000	0.30748	CAG		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		3	108	0	0	0	0	3	108				
PLXNA4	91584	broad.mit.edu	37	7	132192787	132192787	+	Silent	SNP	G	G	A	rs267601295		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:132192787G>A	ENST00000359827.3	-	2	1628	c.666C>T	c.(664-666)ttC>ttT	p.F222F	PLXNA4_ENST00000321063.4_Silent_p.F222F|PLXNA4_ENST00000423507.2_Silent_p.F222F|PLXNA4_ENST00000378539.5_Silent_p.F222F			Q9HCM2	PLXA4_HUMAN	plexin A4	222	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCGAGGCCACGAACTCATCAT	0.488																																						uc003vra.3		NA																	0				ovary(1)	1						c.(664-666)TTC>TTT		plexin A4 isoform 1							142.0	134.0	137.0					7																	132192787		2203	4300	6503	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:132192787G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.666C>T	7.37:g.132192787G>A						PLXNA4_uc003vrc.2_Silent_p.F222F|PLXNA4_uc003vrb.2_Silent_p.F222F	p.F222F	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			2	895	-			222			Extracellular (Potential).|Sema.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.666C>T	CCDS43646.1																																																																																				0.488	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		7	102	0	0	0	0	7	102				
KIAA1549	57670	broad.mit.edu	37	7	138602131	138602131	+	Silent	SNP	A	A	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:138602131A>G	ENST00000422774.1	-	2	2289	c.2241T>C	c.(2239-2241)gcT>gcC	p.A747A	KIAA1549_ENST00000440172.1_Silent_p.A747A|KIAA1549_ENST00000242365.4_Silent_p.A697A			Q9HCM3	K1549_HUMAN	KIAA1549	747	Ser-rich.					integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TTTCAATGAAAGCTGAGGTAA	0.473			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1		NA		Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	0				central_nervous_system(229)|pancreas(1)	230						c.(2239-2241)GCT>GCC		hypothetical protein LOC57670 isoform 1							54.0	53.0	53.0					7																	138602131		1919	4145	6064	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138602131A>G		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.2241T>C	7.37:g.138602131A>G						KIAA1549_uc003vuk.3_Silent_p.A697A|KIAA1549_uc011kqj.1_Silent_p.A747A	p.A747A	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			2	2290	-			747			Ser-rich.		B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.2241T>C	CCDS56513.1																																																																																				0.473	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			7	38	0	0	0	0	7	38				
GIMAP4	55303	broad.mit.edu	37	7	150269980	150269980	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr7:150269980G>C	ENST00000255945.2	+	3	997	c.822G>C	c.(820-822)aaG>aaC	p.K274N	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.K288N	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	274						cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGGAAAAGAGAAAGAAGC	0.463																																						uc003whl.2		NA																	0				ovary(1)	1						c.(820-822)AAG>AAC		GTPase, IMAP family member 4							107.0	106.0	107.0					7																	150269980		2203	4300	6503	SO:0001583	missense	55303						GTP binding	g.chr7:150269980G>C	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.822G>C	7.37:g.150269980G>C	ENSP00000255945:p.Lys274Asn					GIMAP4_uc011kuu.1_Missense_Mutation_p.K135N|GIMAP4_uc011kuv.1_Missense_Mutation_p.K288N	p.K274N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	904	+			274			Potential.			Missense_Mutation	SNP	ENST00000255945.2	37	c.822G>C	CCDS5904.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341544	0.24339	.	.	ENSG00000133574	ENST00000255945;ENST00000461940;ENST00000466938	T;T	0.06449	3.32;3.3	4.82	-2.53	0.06326	.	1.296750	0.04924	N	0.455499	T	0.08492	0.0211	L	0.58101	1.795	0.09310	N	1	B;D	0.56521	0.222;0.976	B;P	0.46685	0.031;0.524	T	0.41395	-0.9511	10	0.16896	T	0.51	.	5.5843	0.17266	0.5613:0.156:0.2827:0.0	.	288;274	G5E9W9;Q9NUV9	.;GIMA4_HUMAN	N	274;288;206	ENSP00000255945:K274N;ENSP00000419545:K288N	ENSP00000255945:K274N	K	+	3	2	GIMAP4	149900913	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.505000	0.06367	-0.332000	0.08489	-0.140000	0.14226	AAG		0.463	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		3	20	0	0	0	0	3	20				
AGPAT5	55326	broad.mit.edu	37	8	6566210	6566210	+	Silent	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:6566210C>G	ENST00000285518.6	+	1	333	c.21C>G	c.(19-21)ctC>ctG	p.L7L	CTD-2541M15.1_ENST00000525186.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA|CTD-2541M15.1_ENST00000527490.1_RNA	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	7					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		CCCTGGTGCTCCACACGTACT	0.726											OREG0007035	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										uc003wqo.2		NA																	0					0						c.(19-21)CTC>CTG		1-acylglycerol-3-phosphate O-acyltransferase 5							26.0	25.0	25.0					8																	6566210		2202	4299	6501	SO:0001819	synonymous_variant	55326				phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr8:6566210C>G	AF375789	CCDS34796.1	8p23.1	2013-02-05	2013-02-05		ENSG00000155189	ENSG00000155189	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20886	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, epsilon"""	614796	"""1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)"""				Standard	NM_018361		Approved	FLJ11210, LPAAT-e, LPAAT-epsilon	uc003wqo.3	Q9NUQ2	OTTHUMG00000163656	ENST00000285518.6:c.21C>G	8.37:g.6566210C>G			OREG0007035	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=AGPAT5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	635	AGPAT5_uc011kwm.1_Silent_p.L7L	p.L7L	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)	1	333	+			7					Q8IZ47|Q9BQG4	Silent	SNP	ENST00000285518.6	37	c.21C>G	CCDS34796.1																																																																																				0.726	AGPAT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374684.1	NM_018361		3	23	0	0	0	0	3	23				
EBF2	64641	broad.mit.edu	37	8	25902267	25902267	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:25902267C>T	ENST00000520164.1	-	1	646	c.109G>A	c.(109-111)Gac>Aac	p.D37N		NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	37					adipose tissue development (GO:0060612)|brown fat cell differentiation (GO:0050873)|cell fate determination (GO:0001709)|positive regulation of chromatin binding (GO:0035563)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		ACATTAGCGTCCACCACTCCG	0.567																																					Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918)	uc003xes.1		NA																	0				ovary(3)|skin(1)	4						c.(109-111)GAC>AAC		early B-cell factor 2							95.0	99.0	98.0					8																	25902267		2028	4184	6212	SO:0001583	missense	64641				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	g.chr8:25902267C>T	AK021562, AK001144	CCDS43726.1	8p21.1	2007-07-26			ENSG00000221818	ENSG00000221818			19090	protein-coding gene	gene with protein product		609934				9151732	Standard	NM_022659		Approved	FLJ11500, COE2	uc003xes.2	Q9HAK2	OTTHUMG00000163838	ENST00000520164.1:c.109G>A	8.37:g.25902267C>T	ENSP00000430241:p.Asp37Asn					PPP2R2A_uc003xek.2_Intron|EBF2_uc003xet.1_Missense_Mutation_p.D37N	p.D37N	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)	1	126	-		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)	37					A0PJM4|A6NMF7|F5H645|Q66VZ3|Q6DK36|Q6IS86|Q6ISA4	Missense_Mutation	SNP	ENST00000520164.1	37	c.109G>A	CCDS43726.1	.	.	.	.	.	.	.	.	.	.	C	33	5.236731	0.95240	.	.	ENSG00000221818	ENST00000520164	T	0.47869	0.83	5.46	4.59	0.56863	.	0.000000	0.85682	U	0.000000	T	0.67534	0.2903	M	0.83483	2.645	0.80722	D	1	D	0.62365	0.991	P	0.60541	0.876	T	0.73827	-0.3860	10	0.87932	D	0	-3.6912	13.9741	0.64259	0.0:0.9274:0.0:0.0726	.	37	Q9HAK2	COE2_HUMAN	N	37	ENSP00000430241:D37N	ENSP00000430241:D37N	D	-	1	0	EBF2	25958184	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.818000	0.86416	1.311000	0.45024	0.561000	0.74099	GAC		0.567	EBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375886.2	NM_022659		6	104	0	0	0	0	6	104				
ELP3	55140	broad.mit.edu	37	8	27995259	27995259	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:27995259C>T	ENST00000256398.8	+	10	1328	c.951C>T	c.(949-951)ctC>ctT	p.L317L	ELP3_ENST00000542181.1_Silent_p.L188L|ELP3_ENST00000521015.1_Silent_p.L303L|ELP3_ENST00000537665.1_Silent_p.L198L|ELP3_ENST00000524103.1_Silent_p.L245L|ELP3_ENST00000380353.4_Silent_p.L225L	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	317					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		GGCTGAAACTCTATCCTACCC	0.458																																						uc003xgo.3		NA																	0					0						c.(949-951)CTC>CTT		elongation protein 3 homolog							114.0	112.0	113.0					8																	27995259		2203	4300	6503	SO:0001819	synonymous_variant	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27995259C>T		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.951C>T	8.37:g.27995259C>T						ELP3_uc003xgn.3_Silent_p.L302L|ELP3_uc011laq.1_Silent_p.L245L|ELP3_uc011lar.1_Silent_p.L225L|ELP3_uc011las.1_Silent_p.L198L|ELP3_uc011lat.1_Silent_p.L198L	p.L317L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	10	1099	+		Ovarian(32;0.0218)	317					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Silent	SNP	ENST00000256398.8	37	c.951C>T	CCDS6065.1																																																																																				0.458	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091		6	72	0	0	0	0	6	72				
ZFHX4	79776	broad.mit.edu	37	8	77761784	77761784	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:77761784G>A	ENST00000521891.2	+	8	4130	c.3682G>A	c.(3682-3684)Gac>Aac	p.D1228N	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1183N|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1202N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1183N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1183					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)			CAATAGTAGGGACCAAAGTCG	0.413										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(3547-3549)GAC>AAC		zinc finger homeodomain 4							142.0	135.0	137.0					8																	77761784		1959	4159	6118	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77761784G>A		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.3682G>A	8.37:g.77761784G>A	ENSP00000430497:p.Asp1228Asn	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.D1228N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D1183N	p.D1183N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		8	3934	+			1183			C2H2-type 8.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.3547G>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	24.6	4.544558	0.86022	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52295	0.67;0.72;0.69;0.7	4.71	4.71	0.59529	Zinc finger, C2H2-like (1);	0.000000	0.44483	U	0.000451	T	0.67135	0.2861	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.998	T	0.69292	-0.5183	10	0.59425	D	0.04	.	18.2145	0.89881	0.0:0.0:1.0:0.0	.	1183;1183;1228	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1228;1228;1183;1183;1202	ENSP00000430497:D1228N;ENSP00000399605:D1183N;ENSP00000050961:D1183N;ENSP00000430848:D1202N	ENSP00000050961:D1183N	D	+	1	0	ZFHX4	77924339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.601000	0.98297	2.593000	0.87608	0.650000	0.86243	GAC		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		8	77	0	0	0	0	8	77				
DCSTAMP	81501	broad.mit.edu	37	8	105367220	105367220	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:105367220T>G	ENST00000297581.2	+	3	1194	c.1145T>G	c.(1144-1146)gTt>gGt	p.V382G	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	382					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CCTCTCAGTGTTATTCTTTTG	0.403																																						uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1144-1146)GTT>GGT		dendritic cell-specific transmembrane protein							121.0	119.0	119.0					8																	105367220		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367220T>G	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1145T>G	8.37:g.105367220T>G	ENSP00000297581:p.Val382Gly						p.V382G	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1194	+			382			Helical; (Potential).		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.1145T>G	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.877889	0.33162	.	.	ENSG00000164935	ENST00000297581	T	0.33865	1.39	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.648747	0.16568	N	0.208746	T	0.23532	0.0569	N	0.19112	0.55	0.09310	N	1	B	0.31968	0.349	B	0.33620	0.167	T	0.15578	-1.0432	10	0.25751	T	0.34	-3.0999	8.7409	0.34556	0.0:0.1295:0.0:0.8705	.	382	Q9H295	TM7S4_HUMAN	G	382	ENSP00000297581:V382G	ENSP00000297581:V382G	V	+	2	0	TM7SF4	105436396	0.014000	0.17966	0.014000	0.15608	0.768000	0.43524	1.592000	0.36676	2.180000	0.69256	0.533000	0.62120	GTT		0.403	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		3	77	0	0	0	0	3	77				
ACO1	48	broad.mit.edu	37	9	32423409	32423409	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32423409T>G	ENST00000309951.6	+	9	1201	c.1063T>G	c.(1063-1065)Ttc>Gtc	p.F355V	ACO1_ENST00000541043.1_Missense_Mutation_p.F256V|ACO1_ENST00000379923.1_Missense_Mutation_p.F355V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	355					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGACCCAGACTTCACCCAGGT	0.418																																						uc003zqw.3		NA																	0					0						c.(1063-1065)TTC>GTC		aconitase 1							112.0	108.0	110.0					9																	32423409		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32423409T>G	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1063T>G	9.37:g.32423409T>G	ENSP00000309477:p.Phe355Val					ACO1_uc010mjh.1_Missense_Mutation_p.F189V|ACO1_uc003zqx.3_Missense_Mutation_p.F355V|ACO1_uc003zqy.3_RNA	p.F355V	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	9	1218	+			355					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1063T>G	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	T	29.5	5.012686	0.93346	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000379921;ENST00000541043	T;T;T	0.23552	1.9;1.9;1.9	6.17	6.17	0.99709	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	M	0.92649	3.33	0.80722	D	1	D;D	0.69078	0.997;0.991	D;D	0.72625	0.978;0.972	T	0.71155	-0.4675	10	0.87932	D	0	-4.7556	15.8048	0.78491	0.0:0.0:0.0:1.0	.	391;355	Q59FI0;P21399	.;ACOC_HUMAN	V	391;355;355;355;256	ENSP00000309477:F355V;ENSP00000369255:F355V;ENSP00000438733:F256V	ENSP00000309477:F355V	F	+	1	0	ACO1	32413409	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.782000	0.85680	2.371000	0.80710	0.533000	0.62120	TTC		0.418	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197		6	105	0	0	0	0	6	105				
TAF1L	138474	broad.mit.edu	37	9	32633618	32633618	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:32633618A>C	ENST00000242310.4	-	1	2049	c.1960T>G	c.(1960-1962)Tca>Gca	p.S654A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	654					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GGTTGGACTGAATGGGGACCT	0.498																																						uc003zrg.1		NA																	0				lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(1960-1962)TCA>GCA		TBP-associated factor RNA polymerase 1-like							138.0	131.0	133.0					9																	32633618		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633618A>C	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1960T>G	9.37:g.32633618A>C	ENSP00000418379:p.Ser654Ala					uc003zrh.1_RNA	p.S654A	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2050	-			654					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.1960T>G	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.396013	0.42512	.	.	ENSG00000122728	ENST00000242310	T	0.13196	2.61	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.129206	0.53938	D	0.000058	T	0.04318	0.0119	N	0.05230	-0.09	0.23696	N	0.997088	B	0.06786	0.001	B	0.09377	0.004	T	0.37619	-0.9698	10	0.15499	T	0.54	.	2.7014	0.05149	0.6505:0.0:0.3495:0.0	.	654	Q8IZX4	TAF1L_HUMAN	A	654	ENSP00000418379:S654A	ENSP00000418379:S654A	S	-	1	0	TAF1L	32623618	0.006000	0.16342	0.996000	0.52242	0.763000	0.43281	-0.520000	0.06252	0.530000	0.28619	0.164000	0.16699	TCA		0.498	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			5	136	0	0	0	0	5	136				
PRSS3	5646	broad.mit.edu	37	9	33798053	33798053	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:33798053G>A	ENST00000361005.5	+	3	598	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000342836.4_Missense_Mutation_p.G157S|PRSS3_ENST00000429677.3_Missense_Mutation_p.G136S|PRSS3_ENST00000379405.3_Missense_Mutation_p.G143S	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	200	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCTCATCTCCGGCTGGGGCAA	0.567																																						uc003ztj.3		NA																	0					0						c.(598-600)GGC>AGC		mesotrypsin isoform 1 preproprotein							138.0	114.0	122.0					9																	33798053		2203	4300	6503	SO:0001583	missense	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33798053G>A		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.598G>A	9.37:g.33798053G>A	ENSP00000354280:p.Gly200Ser					uc003ztk.1_Intron|PRSS3_uc003zti.3_Missense_Mutation_p.G157S|PRSS3_uc003ztl.3_Missense_Mutation_p.G143S	p.G200S	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		3	598	+			200			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	c.598G>A	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	g	17.89	3.499929	0.64298	.	.	ENSG00000010438	ENST00000361005;ENST00000457896;ENST00000342836;ENST00000429677;ENST00000379405	D;D;D;D;D	0.99532	-2.74;-2.85;-6.1;-2.74;-6.1	3.61	3.61	0.41365	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99789	0.9911	H	0.98833	4.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96801	0.9589	10	0.87932	D	0	.	13.0996	0.59212	0.0:0.0:1.0:0.0	.	143;200;157	P35030-3;P35030;P35030-4	.;TRY3_HUMAN;.	S	200;155;157;136;143	ENSP00000354280:G200S;ENSP00000401249:G155S;ENSP00000340889:G157S;ENSP00000401828:G136S;ENSP00000368715:G143S	ENSP00000340889:G157S	G	+	1	0	PRSS3	33788053	1.000000	0.71417	0.997000	0.53966	0.053000	0.15095	8.656000	0.91102	1.737000	0.51674	0.306000	0.20318	GGC		0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771		5	102	0	0	0	0	5	102				
FANCG	2189	broad.mit.edu	37	9	35074164	35074164	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:35074164C>T	ENST00000378643.3	-	14	2301	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_5'UTR	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	604					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCGTCACGATCAGAGGGACGG	0.517			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																														uc003zwb.1		NA	yes	Rec		Fanconi anaemia G	9	9p13	2189	Mis|N|F|S	"""Fanconi anemia, complementation group G"""			L		AML|leukemia			0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1810-1812)GAT>AAT	Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group G							75.0	73.0	74.0					9																	35074164		2203	4300	6503	SO:0001583	missense	2189	Fanconi_Anemia			cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	g.chr9:35074164C>T	AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1810G>A	9.37:g.35074164C>T	ENSP00000367910:p.Asp604Asn					VCP_uc003zvy.2_5'Flank|VCP_uc003zvz.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc003zwa.1_Missense_Mutation_p.D346N|FANCG_uc010mkj.1_Missense_Mutation_p.D346N	p.D604N	NM_004629	NP_004620	O15287	FANCG_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		14	2302	-			604						Missense_Mutation	SNP	ENST00000378643.3	37	c.1810G>A	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	5.784	0.329061	0.10956	.	.	ENSG00000221829	ENST00000378643	T	0.55052	0.54	5.38	3.39	0.38822	.	.	.	.	.	T	0.34135	0.0887	L	0.31207	0.915	0.09310	N	1	B	0.14805	0.011	B	0.12837	0.008	T	0.23297	-1.0192	9	0.10377	T	0.69	-7.715	6.0711	0.19889	0.0:0.7039:0.1923:0.1038	.	604	O15287	FANCG_HUMAN	N	604	ENSP00000367910:D604N	ENSP00000367910:D604N	D	-	1	0	FANCG	35064164	0.481000	0.25941	0.184000	0.23157	0.071000	0.16799	0.800000	0.27042	1.239000	0.43787	0.455000	0.32223	GAT		0.517	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1	NM_004629		7	57	0	0	0	0	7	57				
PTCH1	5727	broad.mit.edu	37	9	98209652	98209652	+	Missense_Mutation	SNP	C	C	T	rs372828014		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:98209652C>T	ENST00000331920.6	-	23	4185	c.3886G>A	c.(3886-3888)Gga>Aga	p.G1296R	PTCH1_ENST00000430669.2_Missense_Mutation_p.G1230R|PTCH1_ENST00000418258.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000437951.1_Missense_Mutation_p.G1230R|PTCH1_ENST00000429896.2_Missense_Mutation_p.G1145R|PTCH1_ENST00000421141.1_Missense_Mutation_p.G1145R|PTCH1_ENST00000375274.2_Missense_Mutation_p.G1295R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1296					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCTTGCCGTCCGGGAGGCAGG	0.652																																						uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(3886-3888)GGA>AGA		patched isoform L							45.0	56.0	53.0					9																	98209652		2172	4281	6453	SO:0001583	missense	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98209652C>T	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3886G>A	9.37:g.98209652C>T	ENSP00000332353:p.Gly1296Arg					PTCH1_uc010mrn.2_Missense_Mutation_p.G88R|PTCH1_uc010mro.2_Missense_Mutation_p.G1145R|PTCH1_uc010mrp.2_Missense_Mutation_p.G1145R|PTCH1_uc010mrq.2_Missense_Mutation_p.G1145R|PTCH1_uc004avl.3_Missense_Mutation_p.G1145R|PTCH1_uc010mrr.2_Missense_Mutation_p.G1230R|PTCH1_uc004avm.3_Missense_Mutation_p.G1295R	p.G1296R	NM_000264	NP_000255	Q13635	PTC1_HUMAN			23	4074	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	1296			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	c.3886G>A	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870151	0.33069	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000430669;ENST00000375284;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.89939	-2.58;-2.57;-2.56;-2.56;-2.57;-2.56;-2.59	4.64	4.64	0.57946	.	0.333939	0.30455	N	0.009597	D	0.85500	0.5711	N	0.22421	0.69	0.36575	D	0.87321	D;D;D	0.64830	0.984;0.994;0.973	P;P;P	0.55871	0.709;0.786;0.616	T	0.83334	-0.0011	10	0.15499	T	0.54	-14.7797	10.4391	0.44455	0.2509:0.7491:0.0:0.0	.	1230;1295;1296	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	1296;1230;1145;1145;1230;88;1145;1295	ENSP00000332353:G1296R;ENSP00000389744:G1230R;ENSP00000399981:G1145R;ENSP00000396135:G1145R;ENSP00000410287:G1230R;ENSP00000414823:G1145R;ENSP00000364423:G1295R	ENSP00000332353:G1296R	G	-	1	0	PTCH1	97249473	0.124000	0.22315	0.336000	0.25522	0.524000	0.34500	1.020000	0.30027	2.413000	0.81919	0.643000	0.83706	GGA		0.652	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		17	92	0	0	0	0	17	92				
NCBP1	4686	broad.mit.edu	37	9	100425264	100425264	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:100425264G>A	ENST00000375147.3	+	18	1988	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	578					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AACCCTAGCTGAAAGTGATGA	0.323																																					Ovarian(36;879 898 2893 44212 50307)	uc004axq.2		NA																	0				central_nervous_system(1)	1						c.(1732-1734)GAA>AAA		nuclear cap binding protein subunit 1, 80kDa							106.0	113.0	111.0					9																	100425264		2203	4300	6503	SO:0001583	missense	4686				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	g.chr9:100425264G>A	BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1732G>A	9.37:g.100425264G>A	ENSP00000364289:p.Glu578Lys						p.E578K	NM_002486	NP_002477	Q09161	NCBP1_HUMAN			18	2191	+		Acute lymphoblastic leukemia(62;0.158)	578					B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	ENST00000375147.3	37	c.1732G>A	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769299	0.69992	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.55	5.55	0.83447	MIF4G-like, type 2 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.55673	0.1935	L	0.43152	1.355	0.80722	D	1	B	0.14438	0.01	B	0.17979	0.02	T	0.51419	-0.8708	9	0.11794	T	0.64	-21.325	19.4809	0.95009	0.0:0.0:1.0:0.0	.	578	Q09161	NCBP1_HUMAN	K	578	.	ENSP00000364289:E578K	E	+	1	0	NCBP1	99465085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.435000	0.80391	2.785000	0.95823	0.655000	0.94253	GAA		0.323	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486		8	61	0	0	0	0	8	61				
ALDOB	229	broad.mit.edu	37	9	104187258	104187258	+	Missense_Mutation	SNP	A	A	C	rs118204425		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:104187258A>C	ENST00000374855.4	-	8	990	c.866T>G	c.(865-867)cTt>cGt	p.L289R	ALDOB_ENST00000468981.3_5'Flank	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	289					carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose catabolic process (GO:0006001)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|NADH oxidation (GO:0006116)|positive regulation of ATPase activity (GO:0032781)|small molecule metabolic process (GO:0044281)|vacuolar proton-transporting V-type ATPase complex assembly (GO:0070072)	centriolar satellite (GO:0034451)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)	ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-1-phosphate aldolase activity (GO:0061609)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				TAGAGGGCAAAGGTTGATAGC	0.522																																						uc004bbk.2		NA																	0				skin(1)	1						c.(865-867)CTT>CGT		aldolase B, fructose-bisphosphate							98.0	92.0	94.0					9																	104187258		2203	4300	6503	SO:0001583	missense	229				fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding	g.chr9:104187258A>C	X01098	CCDS6756.1	9q21.3-q22.2	2008-02-05			ENSG00000136872	ENSG00000136872	4.1.2.13		417	protein-coding gene	gene with protein product		612724					Standard	NM_000035		Approved		uc004bbk.2	P05062	OTTHUMG00000020378	ENST00000374855.4:c.866T>G	9.37:g.104187258A>C	ENSP00000363988:p.Leu289Arg						p.L289R	NM_000035	NP_000026	P05062	ALDOB_HUMAN			8	948	-		Acute lymphoblastic leukemia(62;0.0559)	289					Q13741|Q13742|Q5T7D6	Missense_Mutation	SNP	ENST00000374855.4	37	c.866T>G	CCDS6756.1	.	.	.	.	.	.	.	.	.	.	A	12.10	1.835434	0.32421	.	.	ENSG00000136872	ENST00000374855;ENST00000430164	D	0.85171	-1.95	5.81	1.92	0.25849	Aldolase-type TIM barrel (1);	0.432917	0.26590	N	0.023539	T	0.51753	0.1693	N	0.00554	-1.385	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34800	-0.9814	10	0.32370	T	0.25	-4.484	1.6188	0.02709	0.4313:0.2593:0.0812:0.2282	.	289	P05062	ALDOB_HUMAN	R	289	ENSP00000363988:L289R	ENSP00000363988:L289R	L	-	2	0	ALDOB	103227079	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	1.540000	0.36115	0.538000	0.28769	0.533000	0.62120	CTT		0.522	ALDOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053434.2			3	66	0	0	0	0	3	66				
TTLL11	158135	broad.mit.edu	37	9	124751885	124751885	+	Silent	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:124751885G>A	ENST00000373776.3	-	4	1315	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_Silent_p.C376C	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	376	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						GGAGAGGTTTGCAGATGTACT	0.493																																						uc004blt.1		NA																	0					0						c.(1126-1128)TGC>TGT		tubulin tyrosine ligase-like family, member 11							82.0	82.0	82.0					9																	124751885		2203	4300	6503	SO:0001819	synonymous_variant	158135				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	g.chr9:124751885G>A	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.1128C>T	9.37:g.124751885G>A						TTLL11_uc011lyl.1_Silent_p.C376C|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Silent_p.C53C|TTLL11_uc004blu.1_3'UTR	p.C376C	NM_194252	NP_919228	Q8NHH1	TTL11_HUMAN			4	1316	-			376			TTL.			Silent	SNP	ENST00000373776.3	37	c.1128C>T	CCDS6834.2																																																																																				0.493	TTLL11-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053907.1	XM_088486		14	106	0	0	0	0	14	106				
CRAT	1384	broad.mit.edu	37	9	131864310	131864310	+	Silent	SNP	A	A	G	rs376369693		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:131864310A>G	ENST00000318080.2	-	6	951	c.657T>C	c.(655-657)agT>agC	p.S219S	CRAT_ENST00000464290.1_5'UTR|RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	219					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GTGTCCCGTCACTGTGGTACA	0.572																																						uc004bxh.2		NA																	0				central_nervous_system(1)	1						c.(655-657)AGT>AGC		carnitine acetyltransferase precursor	L-Carnitine(DB00583)						105.0	88.0	94.0					9																	131864310		2203	4300	6503	SO:0001819	synonymous_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864310A>G	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.657T>C	9.37:g.131864310A>G						CRAT_uc004bxg.2_Silent_p.S198S|CRAT_uc004bxk.3_Silent_p.S198S	p.S219S	NM_000755	NP_000746	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	6	939	-			219					Q5T952|Q9BW16	Silent	SNP	ENST00000318080.2	37	c.657T>C	CCDS6919.1																																																																																				0.572	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			5	31	0	0	0	0	5	31				
PMPCA	23203	broad.mit.edu	37	9	139316332	139316332	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139316332A>T	ENST00000371717.3	+	12	1321	c.1312A>T	c.(1312-1314)Aac>Tac	p.N438Y	PMPCA_ENST00000399219.3_Missense_Mutation_p.N307Y	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	438					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GCTCATGATGAACCTGGAATC	0.622																																						uc004chl.2		NA																	0					0						c.(1312-1314)AAC>TAC		peptidase (mitochondrial processing) alpha							99.0	81.0	87.0					9																	139316332		2203	4300	6503	SO:0001583	missense	23203				proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	g.chr9:139316332A>T	D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.1312A>T	9.37:g.139316332A>T	ENSP00000360782:p.Asn438Tyr					PMPCA_uc010nbl.2_Missense_Mutation_p.N338Y|PMPCA_uc011mdz.1_Missense_Mutation_p.N307Y|PMPCA_uc004chn.1_Missense_Mutation_p.N35Y	p.N438Y	NM_015160	NP_055975	Q10713	MPPA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)	12	1317	+		Myeloproliferative disorder(178;0.0821)	438					B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	ENST00000371717.3	37	c.1312A>T	CCDS35180.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.557052	0.86231	.	.	ENSG00000165688	ENST00000371717;ENST00000399219;ENST00000444897	T;T;T	0.29655	1.56;1.56;1.56	5.04	5.04	0.67666	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.63414	0.2509	M	0.91196	3.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.989;1.0;1.0	T	0.73004	-0.4119	10	0.87932	D	0	.	13.9816	0.64308	1.0:0.0:0.0:0.0	.	307;438;438	B4DKL3;Q5SXM9;Q10713	.;.;MPPA_HUMAN	Y	438;307;146	ENSP00000360782:N438Y;ENSP00000416702:N307Y;ENSP00000408393:N146Y	ENSP00000360782:N438Y	N	+	1	0	PMPCA	138436153	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.967000	0.93402	1.890000	0.54733	0.533000	0.62120	AAC		0.622	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055054.1	NM_015160		11	71	0	0	0	0	11	71				
NOTCH1	4851	broad.mit.edu	37	9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(6190-6192)CCC>CTC		notch1 preproprotein							12.0	14.0	13.0					9																	139392000		1977	4165	6142	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139392000G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6191C>T	9.37:g.139392000G>A	ENSP00000277541:p.Pro2064Leu	HNSCC(8;0.001)					p.P2064L	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	6191	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2064			ANK 5.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.6191C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097509	0.76870	.	.	ENSG00000148400	ENST00000277541	T	0.70516	-0.49	5.42	5.42	0.78866	Ankyrin repeat-containing domain (4);	0.115829	0.64402	D	0.000011	D	0.87317	0.6147	M	0.91038	3.17	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.89790	0.3967	10	0.87932	D	0	.	18.5525	0.91071	0.0:0.0:1.0:0.0	.	2064	P46531	NOTC1_HUMAN	L	2064	ENSP00000277541:P2064L	ENSP00000277541:P2064L	P	-	2	0	NOTCH1	138511821	1.000000	0.71417	0.343000	0.25615	0.859000	0.49053	9.598000	0.98277	2.703000	0.92315	0.561000	0.74099	CCC		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		3	20	0	0	0	0	3	20				
AKAP17A	8227	broad.mit.edu	37	X	1720159	1720159	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:1720159G>A	ENST00000313871.3	+	5	1956	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	587	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						AGCAAGGGCCGGGGCCGGGCC	0.687													g|||	1	0.000199681	0.0	0.0	5008	,	,		13133	0.0		0.0	False		,,,				2504	0.001					uc004cqa.2		NA																	0					0						c.(1759-1761)CGG>CAG		DNA segment on chromosome X and Y (unique) 155							33.0	41.0	38.0					X																	1720159		2203	4296	6499	SO:0001583	missense	8227				B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction	nuclear speck|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chrX:1720159G>A	L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1760G>A	X.37:g.1720159G>A	ENSP00000324827:p.Arg587Gln					SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_Intron	p.R587Q	NM_005088	NP_005079	Q02040	AK17A_HUMAN			5	1956	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	587			Arg-rich.		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	c.1760G>A	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	7.135	0.580592	0.13686	.	.	ENSG00000197976	ENST00000313871	T	0.02301	4.35	1.41	-2.19	0.07015	.	0.754074	0.10033	U	0.724499	T	0.04318	0.0119	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.59012	0.85	T	0.44406	-0.9330	9	0.34782	T	0.22	.	3.2652	0.06863	0.4447:0.217:0.3383:0.0	.	587	Q02040	AK17A_HUMAN	Q	587	ENSP00000324827:R587Q	ENSP00000324827:R587Q	R	+	2	0	AKAP17A	1680159	0.995000	0.38212	0.059000	0.19551	0.059000	0.15707	1.478000	0.35442	0.367000	0.24454	0.367000	0.22151	CGG		0.687	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	33	0	0	0	0	4	33				
USP9X	8239	broad.mit.edu	37	X	41048594	41048594	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:41048594C>T	ENST00000324545.8	+	26	4476	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	USP9X_ENST00000378308.2_Silent_p.D1281D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1281					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGGAAGACGAACAGGTTT	0.388																																					Ovarian(172;1807 2695 35459 49286)	uc004dfb.2		NA																	0				lung(3)|breast(2)|ovary(1)	6						c.(3841-3843)GAC>GAT		ubiquitin specific protease 9, X-linked isoform							172.0	156.0	161.0					X																	41048594		2201	4300	6501	SO:0001819	synonymous_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41048594C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3843C>T	X.37:g.41048594C>T						USP9X_uc004dfc.2_Silent_p.D1281D	p.D1281D	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN			26	4476	+			1281					O75550|Q8WWT3|Q8WX12	Silent	SNP	ENST00000324545.8	37	c.3843C>T	CCDS43930.1																																																																																				0.388	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		9	72	0	0	0	0	9	72				
WDR13	64743	broad.mit.edu	37	X	48458093	48458093	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:48458093G>A	ENST00000218056.5	+	4	1016	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	WDR13_ENST00000376729.5_Missense_Mutation_p.V171M|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	171						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TGACCAGCACGTGGATGAGGC	0.572																																						uc004dkh.1		NA																	0				ovary(2)	2						c.(511-513)GTG>ATG		WD repeat domain 13 protein							87.0	74.0	78.0					X																	48458093		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458093G>A	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.511G>A	X.37:g.48458093G>A	ENSP00000218056:p.Val171Met					WDR13_uc010nif.1_Missense_Mutation_p.V49M|WDR13_uc004dki.1_Missense_Mutation_p.V79M|WDR13_uc004dkj.1_Missense_Mutation_p.V171M|WDR13_uc004dkk.1_Missense_Mutation_p.V79M|WDR13_uc004dkl.3_Missense_Mutation_p.V79M|WDR13_uc011mme.1_Missense_Mutation_p.V49M	p.V171M	NM_017883	NP_060353	Q9H1Z4	WDR13_HUMAN			5	658	+			171			WD 1.		Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.511G>A	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894345	0.72639	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.71341	-0.56;-0.56	5.35	4.49	0.54785	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66674	0.2813	L	0.43152	1.355	0.50632	D	0.999881	P;D	0.61697	0.459;0.99	B;P	0.48654	0.039;0.585	T	0.64076	-0.6492	10	0.34782	T	0.22	3.4813	10.789	0.46422	0.0945:0.0:0.9055:0.0	.	49;171	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	M	171	ENSP00000365919:V171M;ENSP00000218056:V171M	ENSP00000218056:V171M	V	+	1	0	WDR13	48343037	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.691000	0.61738	1.024000	0.39682	0.436000	0.28706	GTG		0.572	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			11	80	0	0	0	0	11	80				
MTMR8	55613	broad.mit.edu	37	X	63551561	63551561	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:63551561T>A	ENST00000374852.3	-	11	1295	c.1228A>T	c.(1228-1230)Atg>Ttg	p.M410L	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	410	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACTGTTCCATTAATTGCCAG	0.438																																						uc004dvs.2		NA																	1	Whole gene deletion(1)		ovary(1)	ovary(2)|breast(2)	4						c.(1228-1230)ATG>TTG		myotubularin related protein 8							60.0	53.0	55.0					X																	63551561		2203	4300	6503	SO:0001583	missense	55613					nuclear envelope	protein tyrosine phosphatase activity	g.chrX:63551561T>A	AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1228A>T	X.37:g.63551561T>A	ENSP00000363985:p.Met410Leu					MTMR8_uc011mou.1_Intron|MTMR8_uc004dvt.1_Missense_Mutation_p.M410L	p.M410L	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN			11	1296	-			410			Myotubularin phosphatase.		Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	c.1228A>T	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.83|13.83	2.353580|2.353580	0.41700|0.41700	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.89123|.	-2.47|.	3.31|3.31	3.31|3.31	0.37934|0.37934	Myotubularin phosphatase domain (1);|.	0.329176|.	0.25433|.	U|.	0.030701|.	T|T	0.40815|0.40815	0.1132|0.1132	N|N	0.17631|0.17631	0.505|0.505	0.80722|0.80722	D|D	1|1	B|.	0.17038|.	0.02|.	B|.	0.22880|.	0.042|.	T|T	0.15896|0.15896	-1.0421|-1.0421	10|5	0.41790|.	T|.	0.15|.	.|.	10.2415|10.2415	0.43314|0.43314	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	410|.	Q96EF0|.	MTMR8_HUMAN|.	L|I	410;296|213	ENSP00000363985:M410L|.	ENSP00000247400:M296L|.	M|N	-|-	1|2	0|0	MTMR8|MTMR8	63468286|63468286	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.961000|0.961000	0.63080|0.63080	1.494000|1.494000	0.35616|0.35616	1.344000|1.344000	0.45657|0.45657	0.486000|0.486000	0.48141|0.48141	ATG|AAT		0.438	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677		4	39	0	0	0	0	4	39				
TAF1	6872	broad.mit.edu	37	X	70607298	70607298	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:70607298G>A	ENST00000373790.4	+	15	2462	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	TAF1_ENST00000276072.3_Missense_Mutation_p.R825Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R825Q|TAF1_ENST00000449580.1_Missense_Mutation_p.R804Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	804	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R804Q(1)|p.R825Q(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACGCATATTCGAGACTTTCTA	0.488																																						uc004dzu.3		NA																	2	Substitution - Missense(2)		breast(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(2410-2412)CGA>CAA		TBP-associated factor 1 isoform 2							83.0	74.0	77.0					X																	70607298		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607298G>A		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2411G>A	X.37:g.70607298G>A	ENSP00000362895:p.Arg804Gln					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.R825Q|TAF1_uc004dzv.3_5'Flank	p.R804Q	NM_138923	NP_620278	P21675	TAF1_HUMAN			15	2462	+	Renal(35;0.156)	all_lung(315;0.000321)	804					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2411G>A	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	29.8	5.039700	0.93630	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	4.7	4.7	0.59300	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.103621	0.64402	D	0.000007	T	0.45518	0.1346	M	0.88105	2.93	0.80722	D	1	D;P	0.89917	1.0;0.772	D;P	0.85130	0.997;0.586	T	0.57934	-0.7725	10	0.87932	D	0	.	17.1936	0.86887	0.0:0.0:1.0:0.0	.	804;825	P21675;P21675-2	TAF1_HUMAN;.	Q	804;804;825;825	ENSP00000362895:R804Q;ENSP00000389000:R804Q;ENSP00000406549:R825Q;ENSP00000276072:R825Q	ENSP00000276072:R825Q	R	+	2	0	TAF1	70524023	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.467000	0.97671	2.070000	0.61991	0.458000	0.33432	CGA		0.488	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		8	69	0	0	0	0	8	69				
NOX1	27035	broad.mit.edu	37	X	100098950	100098950	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100098950T>G	ENST00000372966.3	-	13	1891	c.1686A>C	c.(1684-1686)gaA>gaC	p.E562D	NOX1_ENST00000372964.1_Intron|NOX1_ENST00000372960.4_Missense_Mutation_p.E525D|NOX1_ENST00000217885.5_Missense_Mutation_p.E513D	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	562					angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CTCAAAAATTTTCTTTGTTGA	0.408																																						uc004egj.2		NA																	0				ovary(1)	1						c.(1684-1686)GAA>GAC		NADPH oxidase 1 isoform long							87.0	78.0	81.0					X																	100098950		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100098950T>G	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1686A>C	X.37:g.100098950T>G	ENSP00000362057:p.Glu562Asp					NOX1_uc004egl.3_Missense_Mutation_p.E513D|NOX1_uc010nne.2_Missense_Mutation_p.E525D	p.E562D	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN			13	1892	-			562			Cytoplasmic (Potential).		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.1686A>C	CCDS14474.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.38|19.38	3.816100|3.816100	0.70912|0.70912	.|.	.|.	ENSG00000007952|ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960;ENST00000372957|ENST00000427768	D;D;D|.	0.98968|.	-5.18;-5.04;-5.28|.	5.33|5.33	4.13|4.13	0.48395|0.48395	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81683|0.81683	0.4874|0.4874	H|H	0.95187|0.95187	3.635|3.635	0.49130|0.49130	D|D	0.999758|0.999758	D;D;D|.	0.89917|.	0.999;1.0;1.0|.	D;D;D|.	0.97110|.	0.991;1.0;0.999|.	D|D	0.85147|0.85147	0.0984|0.0984	10|5	0.87932|.	D|.	0|.	-5.6137|-5.6137	8.88|8.88	0.35370|0.35370	0.0:0.1551:0.0:0.8449|0.0:0.1551:0.0:0.8449	.|.	525;513;562|.	A6NGA6;Q9Y5S8-3;Q9Y5S8|.	.;.;NOX1_HUMAN|.	D|Q	562;513;525;177|173	ENSP00000362057:E562D;ENSP00000217885:E513D;ENSP00000362051:E525D|.	ENSP00000217885:E513D|.	E|K	-|-	3|1	2|0	NOX1|NOX1	99985606|99985606	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.934000|0.934000	0.57294|0.57294	1.379000|1.379000	0.34340|0.34340	1.967000|1.967000	0.57214|0.57214	0.483000|0.483000	0.47432|0.47432	GAA|AAA		0.408	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		3	32	0	0	0	0	3	32				
BTK	695	broad.mit.edu	37	X	100608293	100608293	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:100608293C>G	ENST00000308731.7	-	18	1960	c.1797G>C	c.(1795-1797)gaG>gaC	p.E599D	BTK_ENST00000372880.1_Missense_Mutation_p.E423D	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	599	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGTAAATCTCTCATATGGCA	0.423									Agammaglobulinemia, X-linked																													uc004ehg.2		NA																	0				lung(3)|central_nervous_system(2)|ovary(1)	6						c.(1795-1797)GAG>GAC		Bruton agammaglobulinemia tyrosine kinase							233.0	210.0	218.0					X																	100608293		2203	4300	6503	SO:0001583	missense	695	Agammaglobulinemia_X-linked	Familial Cancer Database	Bruton Type Agammaglobulinemia	calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	g.chrX:100608293C>G	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.1797G>C	X.37:g.100608293C>G	ENSP00000308176:p.Glu599Asp					BTK_uc004ehf.2_Missense_Mutation_p.E99D|BTK_uc010nnh.2_RNA|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_RNA|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_RNA|BTK_uc010nnl.2_Missense_Mutation_p.E75D|BTK_uc010nnm.2_Missense_Mutation_p.E169D|BTK_uc010nnn.2_Missense_Mutation_p.E423D|BTK_uc010nno.2_Missense_Mutation_p.E633D	p.E599D	NM_000061	NP_000052	Q06187	BTK_HUMAN			18	1990	-			599			Protein kinase.		B2RAW1|Q32ML5	Missense_Mutation	SNP	ENST00000308731.7	37	c.1797G>C	CCDS14482.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845196	0.32606	.	.	ENSG00000010671	ENST00000372880;ENST00000372855;ENST00000372859;ENST00000372860;ENST00000308731	D;D	0.82984	-1.67;-1.67	5.3	-2.12	0.07165	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.049075	0.85682	D	0.000000	T	0.66819	0.2828	N	0.26042	0.785	0.47009	D	0.999286	B;B;B;B	0.20261	0.002;0.001;0.043;0.002	B;B;B;B	0.24701	0.004;0.006;0.055;0.008	T	0.40251	-0.9573	10	0.18276	T	0.48	.	7.6762	0.28486	0.0:0.5255:0.1046:0.3699	.	423;270;174;599	Q5JY90;Q3MS96;Q572P5;Q06187	.;.;.;BTK_HUMAN	D	423;148;79;174;599	ENSP00000361971:E423D;ENSP00000308176:E599D	ENSP00000308176:E599D	E	-	3	2	BTK	100494949	0.015000	0.18098	0.938000	0.37757	0.944000	0.59088	-0.828000	0.04419	-0.963000	0.03600	-0.380000	0.06706	GAG		0.423	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057532.2	NM_000061		18	160	0	0	0	0	18	160				
STAG2	10735	broad.mit.edu	37	X	123159747	123159747	+	Silent	SNP	C	C	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:123159747C>T	ENST00000371160.1	+	4	392	c.102C>T	c.(100-102)aaC>aaT	p.N34N	STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000218089.9_Silent_p.N34N|STAG2_ENST00000371157.3_Silent_p.N34N|STAG2_ENST00000371145.3_Silent_p.N34N|STAG2_ENST00000371144.3_Silent_p.N34N|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	34					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAGGAAAAAACCAAAAGCAAG	0.323																																						uc004etz.3		NA																	0				ovary(4)|skin(1)	5						c.(100-102)AAC>AAT		stromal antigen 2 isoform b							129.0	127.0	128.0					X																	123159747		2203	4299	6502	SO:0001819	synonymous_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123159747C>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.102C>T	X.37:g.123159747C>T						STAG2_uc004eua.2_Silent_p.N34N|STAG2_uc004eub.2_Silent_p.N34N|STAG2_uc004euc.2_Silent_p.N34N|STAG2_uc004eud.2_Silent_p.N34N|STAG2_uc004eue.2_Silent_p.N34N	p.N34N	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			3	441	+			34					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	c.102C>T	CCDS14607.1																																																																																				0.323	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		7	110	0	0	0	0	7	110				
DDX26B	203522	broad.mit.edu	37	X	134690127	134690127	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:134690127T>G	ENST00000370752.4	+	9	1428	c.1094T>G	c.(1093-1095)cTt>cGt	p.L365R	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	365										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TACAATGAACTTGGATATCCA	0.348																																						uc004eyw.3		NA																	0					0						c.(1093-1095)CTT>CGT		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							214.0	176.0	189.0					X																	134690127		2203	4298	6501	SO:0001583	missense	203522							g.chrX:134690127T>G	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.1094T>G	X.37:g.134690127T>G	ENSP00000359788:p.Leu365Arg						p.L365R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			9	1457	+	Acute lymphoblastic leukemia(192;6.56e-05)		365					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.1094T>G	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.639149	0.87760	.	.	ENSG00000165359	ENST00000370752	T	0.30981	1.51	5.77	5.77	0.91146	.	0.120250	0.64402	D	0.000020	T	0.51550	0.1681	M	0.77616	2.38	0.51767	D	0.999939	D	0.56968	0.978	P	0.58266	0.836	T	0.52786	-0.8529	10	0.39692	T	0.17	-15.4074	14.1668	0.65483	0.0:0.0:0.0:1.0	.	365	Q5JSJ4	DX26B_HUMAN	R	365	ENSP00000359788:L365R	ENSP00000359788:L365R	L	+	2	0	DDX26B	134517793	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	1.943000	0.56356	0.486000	0.48141	CTT		0.348	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540		7	95	0	0	0	0	7	95				
PLXNA3	55558	broad.mit.edu	37	X	153696341	153696341	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696341G>A	ENST00000369682.3	+	21	3992	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1273					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGTGCAAGGAAGGTGCCTG	0.642																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(3817-3819)GAA>AAA		plexin A3 precursor							66.0	60.0	62.0					X																	153696341		2203	4299	6502	SO:0001583	missense	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696341G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3817G>A	X.37:g.153696341G>A	ENSP00000358696:p.Glu1273Lys						p.E1273K	NM_017514	NP_059984	P51805	PLXA3_HUMAN			21	3990	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		1273			Cytoplasmic (Potential).		Q5HY36	Missense_Mutation	SNP	ENST00000369682.3	37	c.3817G>A	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.206509	0.79127	.	.	ENSG00000130827	ENST00000369682	T	0.00902	5.56	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.02571	0.0078	L	0.49455	1.56	0.80722	D	1	P	0.45715	0.865	P	0.52343	0.696	T	0.64668	-0.6353	10	0.45353	T	0.12	.	14.9739	0.71254	0.0:0.0:1.0:0.0	.	1273	P51805	PLXA3_HUMAN	K	1273	ENSP00000358696:E1273K	ENSP00000358696:E1273K	E	+	1	0	PLXNA3	153349535	1.000000	0.71417	1.000000	0.80357	0.667000	0.39255	9.508000	0.98000	1.845000	0.53610	0.436000	0.28706	GAA		0.642	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514		13	55	0	0	0	0	13	55				
PLXNA3	55558	broad.mit.edu	37	X	153696645	153696645	+	Splice_Site	SNP	G	G	A			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:153696645G>A	ENST00000369682.3	+	23	4138		c.e23-1			NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3						axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCCCCACAGACGCCACCCA	0.672																																						uc004flm.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.e23-1		plexin A3 precursor							34.0	33.0	33.0					X																	153696645		2203	4295	6498	SO:0001630	splice_region_variant	55558				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	g.chrX:153696645G>A	X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3964-1G>A	X.37:g.153696645G>A							p.T1322_splice	NM_017514	NP_059984	P51805	PLXA3_HUMAN			23	4137	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							Q5HY36	Splice_Site	SNP	ENST00000369682.3	37	c.3964_splice	CCDS14752.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.095043	0.36952	.	.	ENSG00000130827	ENST00000369682	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8272	0.85934	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA3	153349839	1.000000	0.71417	0.995000	0.50966	0.314000	0.28054	7.608000	0.82898	2.234000	0.73211	0.526000	0.51066	.		0.672	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081634.1	NM_017514	Intron	7	76	0	0	0	0	7	76				
MPP1	4354	broad.mit.edu	37	X	154019310	154019310	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154019310A>C	ENST00000369534.3	-	4	506	c.359T>G	c.(358-360)aTc>aGc	p.I120S	MPP1_ENST00000462825.1_Intron|MPP1_ENST00000393531.1_Missense_Mutation_p.I120S|MPP1_ENST00000413259.3_Missense_Mutation_p.I90S	NM_001166460.1|NM_001166461.1|NM_002436.3	NP_001159932.1|NP_001159933.1|NP_002427.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	120	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				nucleotide phosphorylation (GO:0046939)|regulation of neutrophil chemotaxis (GO:0090022)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cortical cytoskeleton (GO:0030863)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTGCCATTGATTTCTAGGAT	0.423																																						uc004fmp.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(358-360)ATC>AGC		palmitoylated membrane protein 1							283.0	230.0	248.0					X																	154019310		2203	4300	6503	SO:0001583	missense	4354				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding	g.chrX:154019310A>C		CCDS14762.1, CCDS55544.1, CCDS55545.1	Xq28	2008-03-04	2002-08-29		ENSG00000130830	ENSG00000130830			7219	protein-coding gene	gene with protein product		305360	"""membrane protein, palmitoylated 1 (55kD)"""	DXS552E		1713685	Standard	NM_002436		Approved	PEMP	uc004fmp.2	Q00013	OTTHUMG00000024244	ENST00000369534.3:c.359T>G	X.37:g.154019310A>C	ENSP00000358547:p.Ile120Ser					MPP1_uc010nvg.1_Missense_Mutation_p.I120S|MPP1_uc011mzv.1_Missense_Mutation_p.I90S|MPP1_uc004fmq.1_Missense_Mutation_p.I74S|MPP1_uc011mzw.1_Missense_Mutation_p.I103S|MPP1_uc010nvh.1_Intron	p.I120S	NM_002436	NP_002427	Q00013	EM55_HUMAN			4	474	-	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		120			PDZ.		B4DZV5|G3XAI1|Q2TSB6|Q5J7V5	Missense_Mutation	SNP	ENST00000369534.3	37	c.359T>G	CCDS14762.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.108521	0.77096	.	.	ENSG00000130830	ENST00000369534;ENST00000413259;ENST00000393531;ENST00000393529;ENST00000369531	T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07	5.61	4.44	0.53790	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.90145	3.09	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.999	T	0.71101	-0.4690	10	0.87932	D	0	.	9.5197	0.39126	0.9152:0.0:0.0848:0.0	.	103;90;120;120	B4E325;B4DZV5;G3XAI1;Q00013	.;.;.;EM55_HUMAN	S	120;90;120;74;103	ENSP00000358547:I120S;ENSP00000400155:I90S;ENSP00000377165:I120S;ENSP00000377163:I74S;ENSP00000358544:I103S	ENSP00000358544:I103S	I	-	2	0	MPP1	153672504	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.795000	0.91872	0.751000	0.32900	0.481000	0.45027	ATC		0.423	MPP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061191.3	NM_002436		7	268	0	0	0	0	7	268				
F8	2157	broad.mit.edu	37	X	154128150	154128150	+	Silent	SNP	A	A	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:154128150A>C	ENST00000360256.4	-	21	6464	c.6264T>G	c.(6262-6264)tcT>tcG	p.S2088S		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2088	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.		S -> F (in HEMA; severe).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTTGATCCAAGAAAAGGGCT	0.413																																						uc004fmt.2		NA																	0				ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6262-6264)TCT>TCG		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						92.0	81.0	85.0					X																	154128150		2203	4300	6503	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154128150A>C	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6264T>G	X.37:g.154128150A>C						F8_uc010nvi.1_Intron	p.S2088S	NM_000132	NP_000123	P00451	FA8_HUMAN			21	6435	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		2088		S -> F (in HEMA; severe).	F5/8 type C 1.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.6264T>G	CCDS35457.1																																																																																				0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			4	34	0	0	0	0	4	34				
ITGB3BP	23421	broad.mit.edu	37	1	63944501	63944502	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr1:63944501_63944502delTT	ENST00000271002.10	-	4	268_269	c.187_188delAA	c.(187-189)aagfs	p.K63fs	ITGB3BP_ENST00000283568.8_Frame_Shift_Del_p.K63fs|ITGB3BP_ENST00000371092.3_Frame_Shift_Del_p.K102fs	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	63					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TTTTTTTCTCTTTTCTATATAT	0.228																																						uc001dba.1		NA																	0					0						c.(187-189)AAGfs		integrin beta 3 binding protein																																				SO:0001589	frameshift_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63944501_63944502delTT	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.187_188delAA	1.37:g.63944503_63944504delTT	ENSP00000271002:p.Lys63fs					ITGB3BP_uc001dbb.1_Frame_Shift_Del_p.K102fs|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_Intron|ITGB3BP_uc009wak.1_Frame_Shift_Del_p.K85fs	p.K63fs	NM_014288	NP_055103	Q13352	CENPR_HUMAN			4	218_219	-			63	Missing: Abolishes localization to nucleus.|KRK->AAA: Abolishes localization to nucleus.		Nuclear localization signal.		B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Frame_Shift_Del	DEL	ENST00000271002.10	37	c.187_188delAA	CCDS30736.1																																																																																				0.228	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288		8	41	NA	NA	NA	NA	8	41	---	---	---	---
C10orf71	118461	broad.mit.edu	37	10	50534969	50534970	+	3'UTR	INS	-	-	AC	rs72337199|rs66701434|rs373439915	byFrequency	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr10:50534969_50534970insAC	ENST00000374144.3	+	0	4667_4668				C10orf71_ENST00000323868.4_Intron			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71									p.?(1)		endometrium(1)	1						CAAAACAAGCAacacacacaca	0.5																																						uc010qgp.1		NA																	1	Unknown(1)		prostate(1)		0						c.(2068-2070)AACfs		hypothetical protein LOC118461 isoform 2																																				SO:0001624	3_prime_UTR_variant	118461							g.chr10:50534969_50534970insAC	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.*72->AC	10.37:g.50534978_50534979dupAC							p.N690fs	NM_199459	NP_955629	Q711Q0	CJ071_HUMAN			4	2407_2408	+			690					A0AVL8	Frame_Shift_Ins	INS	ENST00000374144.3	37	c.2068_2069insAC	CCDS44387.1																																																																																				0.500	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	4	NA	NA	NA	NA	3	4	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-	rs376589131		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)gcgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408																																						uc001upy.2		NA																	0				ovary(3)|skin(1)	4						c.(937-939)GCGfs		poly(A) binding protein, cytoplasmic 3							213.0	213.0	213.0					13																	25671273		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671273delG	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.937delG	13.37:g.25671273delG	ENSP00000281589:p.Ala313fs						p.A313fs	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	998	+		Lung SC(185;0.0225)|Breast(139;0.0602)	313			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.937delG	CCDS9311.1																																																																																				0.408	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		8	315	NA	NA	NA	NA	8	315	---	---	---	---
SERPINA1	5265	broad.mit.edu	37	14	94844884	94844885	+	Frame_Shift_Ins	INS	-	-	G	rs143329723|rs121912712	byFrequency	TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr14:94844884_94844885insG	ENST00000448921.1	-	7	1730_1731	c.1158_1159insC	c.(1156-1161)cccgagfs	p.E387fs	SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.E387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.E387fs	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	387	RCL.		E -> K (in Christchurch; dbSNP:rs121912712).		acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACTTGACCTCGGGGGGGATAG	0.49																																						uc001ycx.3		NA																	0				skin(1)	1	GRCh37	CD890162|CI941951	SERPINA1	D|I	rs121912712|rs143329723	c.(1156-1161)CCCGAGfs		serine proteinase inhibitor, clade A, member 1	Alpha-1-proteinase inhibitor(DB00058)																																			SO:0001589	frameshift_variant	5265	Alpha-1-Antitrypsin_Deficiency			acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94844884_94844885insG	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.1159dupC	14.37:g.94844891_94844891dupG	ENSP00000416066:p.Glu387fs					SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010aux.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ycy.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010auy.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ycz.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010auz.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010ava.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ydb.3_Frame_Shift_Ins_p.P386fs|SERPINA1_uc010avb.2_Frame_Shift_Ins_p.P386fs|SERPINA1_uc001ydc.3_Frame_Shift_Ins_p.P386fs	p.P386fs	NM_000295	NP_000286	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1419_1420	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	386_387		E -> K (in Christchurch).	RCL.		A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Frame_Shift_Ins	INS	ENST00000448921.1	37	c.1158_1159insC	CCDS9925.1																																																																																				0.490	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235		12	60	NA	NA	NA	NA	12	60	---	---	---	---
CPNE2	221184	broad.mit.edu	37	16	57157367	57157370	+	Frame_Shift_Del	DEL	CTGC	CTGC	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr16:57157367_57157370delCTGC	ENST00000535318.2	+	11	1270_1273	c.909_912delCTGC	c.(907-912)ggctgcfs	p.GC303fs	CPNE2_ENST00000290776.8_Frame_Shift_Del_p.GC303fs|CPNE2_ENST00000537605.1_Frame_Shift_Del_p.GC201fs|CPNE2_ENST00000565874.1_Frame_Shift_Del_p.GC303fs			Q96FN4	CPNE2_HUMAN	copine II	303						extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCCTGGGAGGCTGCCAGCTCATGT	0.593																																						uc002eks.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(907-912)GGCTGCfs		copine II																																				SO:0001589	frameshift_variant	221184							g.chr16:57157367_57157370delCTGC		CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.909_912delCTGC	16.37:g.57157367_57157370delCTGC	ENSP00000439018:p.Gly303fs					CPNE2_uc010cct.1_Frame_Shift_Del_p.G329fs|CPNE2_uc010ccu.1_Frame_Shift_Del_p.G303fs|CPNE2_uc002ekt.1_5'Flank	p.G303fs	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN			10	1138_1141	+		all_neural(199;0.224)	303_304					Q68D19|Q719H8|Q86XP9	Frame_Shift_Del	DEL	ENST00000535318.2	37	c.909_912delCTGC	CCDS10774.1																																																																																				0.593	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432986.2	NM_152727		9	84	NA	NA	NA	NA	9	84	---	---	---	---
CASP8	841	broad.mit.edu	37	2	202131442	202131443	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr2:202131442_202131443insC	ENST00000432109.2	+	3	422_423	c.233_234insC	c.(232-237)tacctafs	p.L79fs	CASP8_ENST00000358485.4_Frame_Shift_Ins_p.L138fs|CASP8_ENST00000392259.2_Frame_Shift_Ins_p.L79fs|CASP8_ENST00000392266.3_Frame_Shift_Ins_p.L79fs|CASP8_ENST00000323492.7_Frame_Shift_Ins_p.L79fs|CASP8_ENST00000392258.3_Frame_Shift_Ins_p.L79fs|CASP8_ENST00000264275.5_Frame_Shift_Ins_p.L79fs|CASP8_ENST00000264274.9_Frame_Shift_Ins_p.L79fs	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	79	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						CTGATTACCTACCTAAACACTA	0.475										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(232-234)TACfs		caspase 8 isoform B precursor																																				SO:0001589	frameshift_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131442_202131443insC	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.235dupC	2.37:g.202131444_202131444dupC	ENSP00000412523:p.Leu79fs	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxo.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxp.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxq.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxs.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxt.1_Frame_Shift_Ins_p.Y137fs|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxw.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxy.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc002uxx.1_Frame_Shift_Ins_p.Y78fs|CASP8_uc010ftf.2_Frame_Shift_Ins_p.Y78fs	p.Y78fs	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	442_443	+			78			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Frame_Shift_Ins	INS	ENST00000432109.2	37	c.233_234insC	CCDS2342.1																																																																																				0.475	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		13	52	NA	NA	NA	NA	13	52	---	---	---	---
HLA-B	3106	broad.mit.edu	37	6	31323342	31323343	+	Frame_Shift_Ins	INS	-	-	G	rs80060802		TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:31323342_31323343insG	ENST00000412585.2	-	4	674_675	c.646_647insC	c.(646-648)cacfs	p.H216fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	216	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGAGATGGGGTGGTGGGTCACG	0.584									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(646-648)CACfs		major histocompatibility complex, class I, B																																				SO:0001589	frameshift_variant	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31323342_31323343insG	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.647dupC	6.37:g.31323344_31323344dupG	ENSP00000399168:p.His216fs					HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_RNA|HLA-B_uc011dnk.1_RNA|HLA-B_uc003ntf.2_Intron|HLA-B_uc003ntg.1_Frame_Shift_Ins_p.H95fs|HLA-B_uc003nti.1_RNA|HLA-B_uc010jsn.1_RNA|HLA-B_uc010jso.2_3'UTR	p.H216fs	NM_005514	NP_005505	P01889	1B07_HUMAN			4	700_701	-			216			Alpha-3.|Ig-like C1-type.|Extracellular (Potential).		Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	c.646_647insC	CCDS34394.1																																																																																				0.584	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		24	195	NA	NA	NA	NA	24	195	---	---	---	---
DST	667	broad.mit.edu	37	6	56494093	56494094	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr6:56494093_56494094delTG	ENST00000361203.3	-	28	3803_3804	c.3796_3797delCA	c.(3796-3798)caafs	p.Q1266fs	DST_ENST00000421834.2_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370754.5_Frame_Shift_Del_p.Q1444fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q1266fs|DST_ENST00000518935.1_Frame_Shift_Del_p.Q940fs|DST_ENST00000312431.6_Frame_Shift_Del_p.Q1266fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q940fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q940fs|DST_ENST00000370788.2_Frame_Shift_Del_p.Q1266fs			Q03001	DYST_HUMAN	dystonin	1266					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCAACTAATTGATCTGCTTTT	0.356																																						uc003pdf.2		NA																	0				ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(4330-4332)CAAfs		dystonin isoform 2																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56494093_56494094delTG	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3796_3797delCA	6.37:g.56494093_56494094delTG	ENSP00000354508:p.Gln1266fs					DST_uc003pcz.3_Frame_Shift_Del_p.Q1266fs|DST_uc011dxj.1_Frame_Shift_Del_p.Q1295fs|DST_uc011dxk.1_Frame_Shift_Del_p.Q1306fs|DST_uc003pcy.3_Frame_Shift_Del_p.Q940fs|DST_uc003pdb.2_Frame_Shift_Del_p.Q940fs|DST_uc003pdc.3_Frame_Shift_Del_p.Q940fs|DST_uc003pdd.3_Frame_Shift_Del_p.Q940fs	p.Q1444fs	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		31	4358_4359	-	Lung NSC(77;0.103)		1266					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Del	DEL	ENST00000361203.3	37	c.4330_4331delCA																																																																																					0.356	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		10	108	NA	NA	NA	NA	10	108	---	---	---	---
RNF122	79845	broad.mit.edu	37	8	33408567	33408568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chr8:33408567_33408568insT	ENST00000256257.1	-	4	665_666	c.264_265insA	c.(262-267)ttatatfs	p.Y89fs		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	89						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CTTACCCCATATAATTGTAACT	0.51																																						uc003xjo.1		NA																	0					0						c.(262-267)TTATATfs		ring finger protein 122																																				SO:0001589	frameshift_variant	79845					endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	g.chr8:33408567_33408568insT	AK022588	CCDS6091.1	8p12	2013-01-09			ENSG00000133874	ENSG00000133874		"""RING-type (C3HC4) zinc fingers"""	21147	protein-coding gene	gene with protein product							Standard	NM_024787		Approved	FLJ12526	uc003xjo.1	Q9H9V4	OTTHUMG00000163960	ENST00000256257.1:c.265dupA	8.37:g.33408568_33408568dupT	ENSP00000256257:p.Tyr89fs						p.L88fs	NM_024787	NP_079063	Q9H9V4	RN122_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)	4	666_667	-			88_89					Q52LK3	Frame_Shift_Ins	INS	ENST00000256257.1	37	c.264_265insA	CCDS6091.1																																																																																				0.510	RNF122-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376562.1	NM_024787		49	299	NA	NA	NA	NA	49	299	---	---	---	---
ATP1B4	23439	broad.mit.edu	37	X	119504589	119504591	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CR-7395-01A-11D-2012-08	TCGA-CR-7395-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	bd0b1b16-ee20-48e5-be11-70eac9c15630	1ac40883-5a89-4e4a-bd59-25460b3aa7eb	g.chrX:119504589_119504591delCTT	ENST00000218008.3	+	3	405_407	c.348_350delCTT	c.(346-351)tacttc>tac	p.F119del	ATP1B4_ENST00000361319.3_In_Frame_Del_p.F115del|ATP1B4_ENST00000539306.1_Intron	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	119					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TACTCATTTACTTCTTCTTCTAT	0.483																																						uc004esr.2		NA																	0				ovary(1)|skin(1)	2						c.(346-351)TACTTC>TAC		ATPase, (Na+)/K+ transporting, beta 4																																				SO:0001651	inframe_deletion	23439				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119504589_119504591delCTT	AF158383	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	808	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	Standard	NM_012069		Approved		uc004esr.3	Q9UN42	OTTHUMG00000022299	ENST00000218008.3:c.348_350delCTT	X.37:g.119504595_119504597delCTT	ENSP00000218008:p.Phe119del					ATP1B4_uc004esq.2_In_Frame_Del_p.F115del|ATP1B4_uc011mtx.1_In_Frame_Del_p.F84del|ATP1B4_uc011mty.1_Intron	p.F119del	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN			3	432_434	+			119			Helical; Signal-anchor for type II membrane protein; (Potential).		Q17RR0|Q9UN41	In_Frame_Del	DEL	ENST00000218008.3	37	c.348_350delCTT	CCDS48158.1																																																																																				0.483	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1	NM_001142447		41	269	NA	NA	NA	NA	41	269	---	---	---	---
