#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
CFAP57	149465	broad.mit.edu	37	1	43650921	43650921	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:43650921T>C	ENST00000372492.4	+	5	1187	c.863T>C	c.(862-864)aTt>aCt	p.I288T	WDR65_ENST00000528956.1_Missense_Mutation_p.I288T	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		288								p.I288T(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTGTTTGCCATTGCAGCCTAT	0.498																																							uc001cip.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(862-864)ATT>ACT		WD repeat domain 65							129.0	121.0	123.0					1																	43650921		2203	4300	6503	SO:0001583	missense	149465							g.chr1:43650921T>C																												ENST00000372492.4:c.863T>C	1.37:g.43650921T>C	ENSP00000361570:p.Ile288Thr					EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Missense_Mutation_p.I277T|WDR65_uc001ciq.1_Missense_Mutation_p.I288T	p.I288T	NM_152498	NP_689711	Q96MR6	WDR65_HUMAN			5	984	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	288					A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37	c.863T>C		.	.	.	.	.	.	.	.	.	.	T	17.58	3.424407	0.62733	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.07114	4.74;3.22	5.53	5.53	0.82687	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	0.180937	0.48767	D	0.000167	T	0.13798	0.0334	M	0.67953	2.075	0.44862	D	0.997875	B;B	0.28933	0.228;0.024	B;B	0.31614	0.133;0.069	T	0.01988	-1.1234	10	0.38643	T	0.18	.	15.9461	0.79796	0.0:0.0:0.0:1.0	.	288;288	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	T	288	ENSP00000361570:I288T;ENSP00000435310:I288T	ENSP00000361570:I288T	I	+	2	0	WDR65	43423508	1.000000	0.71417	0.958000	0.39756	0.986000	0.74619	5.178000	0.65037	2.229000	0.72834	0.482000	0.46254	ATT		0.498	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			53	89	0	0	0	0.00361	0	53	89				
CD160	11126	broad.mit.edu	37	1	145699074	145699074	+	Silent	SNP	T	T	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:145699074T>A	ENST00000369288.2	-	5	634	c.417A>T	c.(415-417)acA>acT	p.T139T	CD160_ENST00000235933.6_Silent_p.T139T|CD160_ENST00000369290.1_Silent_p.T30T|CD160_ENST00000401557.3_Silent_p.T139T	NM_007053.2	NP_008984.1	O95971	BY55_HUMAN	CD160 molecule	139					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|defense response to Gram-negative bacterium (GO:0050829)|regulation of immune response (GO:0050776)	anchored component of plasma membrane (GO:0046658)|plasma membrane (GO:0005886)	MHC class I receptor activity (GO:0032393)|receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.T139T(1)		endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			ATCCCGTCACTGTGTAGTTCC	0.433																																					Colon(182;1122 1999 4065 44014 53024)	Colon(182;1122 1999 4065 44014 53024)	uc001eol.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)ACA>ACT		CD160 antigen precursor							166.0	130.0	142.0					1																	145699074		2203	4300	6503	SO:0001819	synonymous_variant	11126				cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding	g.chr1:145699074T>A	AF060981	CCDS72861.1	1q21.2	2011-01-25	2006-03-28		ENSG00000117281	ENSG00000117281		"""CD molecules"""	17013	protein-coding gene	gene with protein product		604463	"""CD160 antigen"""			9743336, 9973372	Standard	NM_007053		Approved	BY55, NK1, NK28	uc001eol.1	O95971	OTTHUMG00000013749	ENST00000369288.2:c.417A>T	1.37:g.145699074T>A						NBPF10_uc001emp.3_Intron|CD160_uc001eom.1_Silent_p.T30T|CD160_uc010oyz.1_RNA	p.T139T	NM_007053	NP_008984	O95971	BY55_HUMAN	KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)		5	635	-	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		139						Silent	SNP	ENST00000369288.2	37	c.417A>T	CCDS923.1																																																																																				0.433	CD160-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038532.2	NM_007053		32	74	0	0	0	0.003271	0	32	74				
OTUD7B	56957	broad.mit.edu	37	1	149936222	149936222	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:149936222T>C	ENST00000369135.4	-	6	951	c.657A>G	c.(655-657)gcA>gcG	p.A219A	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	219	Catalytic.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|TRAF-binding.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.A219A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			TCTCCATCAGTGCATACAAAG	0.517																																							uc001etn.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(655-657)GCA>GCG		zinc finger protein Cezanne							114.0	121.0	118.0					1																	149936222		2085	4228	6313	SO:0001819	synonymous_variant	56957				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding	g.chr1:149936222T>C	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.657A>G	1.37:g.149936222T>C						OTUD7B_uc001eto.2_Silent_p.A140A	p.A219A	NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)		6	1013	-	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		219			Catalytic.|OTU.|TRAF-binding.		B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Silent	SNP	ENST00000369135.4	37	c.657A>G	CCDS41389.1																																																																																				0.517	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034146.3	NM_020205		83	119	0	0	0	0.00361	0	83	119				
SLAMF6	114836	broad.mit.edu	37	1	160460449	160460449	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:160460449T>G	ENST00000368057.3	-	4	733	c.673A>C	c.(673-675)Aaa>Caa	p.K225Q	SLAMF6_ENST00000368059.3_Missense_Mutation_p.K225Q|SLAMF6_ENST00000368055.1_Missense_Mutation_p.K114Q			Q96DU3	SLAF6_HUMAN	SLAM family member 6	225						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.K225Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGAATCATTTTGGTATCTGTA	0.383																																							uc001fwe.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(673-675)AAA>CAA		activating NK receptor precursor							75.0	75.0	75.0					1																	160460449		2203	4300	6503	SO:0001583	missense	114836					integral to membrane|plasma membrane	receptor activity	g.chr1:160460449T>G	AL832854	CCDS1205.1, CCDS53393.1, CCDS53394.1	1q23.1	2013-01-29			ENSG00000162739	ENSG00000162739		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21392	protein-coding gene	gene with protein product		606446				11489943	Standard	NM_052931		Approved	KALI, NTBA, KALIb, Ly108, SF2000, NTB-A, CD352	uc001fwe.2	Q96DU3	OTTHUMG00000022729	ENST00000368057.3:c.673A>C	1.37:g.160460449T>G	ENSP00000357036:p.Lys225Gln					SLAMF6_uc001fwd.1_Missense_Mutation_p.K225Q|SLAMF6_uc010pjh.1_Missense_Mutation_p.K176Q|SLAMF6_uc010pji.1_Missense_Mutation_p.K114Q|SLAMF6_uc010pjj.1_Missense_Mutation_p.K114Q|SLAMF6_uc009wtm.1_3'UTR	p.K225Q	NM_052931	NP_443163	Q96DU3	SLAF6_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0923)		4	733	-	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		225			Extracellular (Potential).		A6NMW2|B2R8X8|Q14CF0|Q5TAS4|Q5TAS6|Q5TAT3|Q96DV0	Missense_Mutation	SNP	ENST00000368057.3	37	c.673A>C	CCDS53394.1	.	.	.	.	.	.	.	.	.	.	T	5.406	0.260096	0.10239	.	.	ENSG00000162739	ENST00000368059;ENST00000368057;ENST00000368055	T;T;T	0.38560	1.13;1.13;1.13	4.44	-7.47	0.01365	.	4.784160	0.00397	N	0.000042	T	0.04907	0.0132	N	0.14661	0.345	0.09310	N	1	B;B;P;B;B	0.38420	0.003;0.277;0.63;0.277;0.277	B;B;B;B;B	0.32211	0.002;0.063;0.142;0.047;0.047	T	0.13415	-1.0510	10	0.11485	T	0.65	2.5107	3.6724	0.08279	0.1223:0.168:0.4993:0.2104	.	114;114;176;225;225	B7Z6A7;Q5TAS6;B4E1U5;Q96DU3;B2R8X8	.;.;.;SLAF6_HUMAN;.	Q	225;225;114	ENSP00000357038:K225Q;ENSP00000357036:K225Q;ENSP00000357034:K114Q	ENSP00000357034:K114Q	K	-	1	0	SLAMF6	158727073	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.634000	0.05477	-1.827000	0.01204	-0.313000	0.08912	AAA		0.383	SLAMF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059010.1	NM_052931		5	126	0	0	0	0.001168	0	5	126				
FMO4	2329	broad.mit.edu	37	1	171303668	171303668	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:171303668A>T	ENST00000367749.3	+	8	1276	c.946A>T	c.(946-948)Aca>Tca	p.T316S		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	316					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.T316S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAAGATGGGACAGTGGAAGA	0.383																																					Pancreas(24;816 862 7754 7993 32832)	Pancreas(24;816 862 7754 7993 32832)	uc001gho.2		NA																	1	Substitution - Missense(1)		lung(1)	kidney(2)|skin(1)	3						c.(946-948)ACA>TCA		flavin containing monooxygenase 4							88.0	90.0	89.0					1																	171303668		2203	4300	6503	SO:0001583	missense	2329				xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171303668A>T	BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.946A>T	1.37:g.171303668A>T	ENSP00000356723:p.Thr316Ser						p.T316S	NM_002022	NP_002013	P31512	FMO4_HUMAN			8	1163	+	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		316					Q53XR0	Missense_Mutation	SNP	ENST00000367749.3	37	c.946A>T	CCDS1295.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702713	0.48307	.	.	ENSG00000076258	ENST00000367749	T	0.52983	0.64	5.63	3.18	0.36537	.	0.102237	0.64402	N	0.000003	T	0.26011	0.0634	L	0.41492	1.28	0.33110	D	0.540402	P	0.38250	0.624	P	0.46975	0.533	T	0.11792	-1.0573	10	0.17832	T	0.49	-11.715	9.7131	0.40258	0.5977:0.0:0.0:0.4023	.	316	P31512	FMO4_HUMAN	S	316	ENSP00000356723:T316S	ENSP00000356723:T316S	T	+	1	0	FMO4	169570292	1.000000	0.71417	0.645000	0.29479	0.976000	0.68499	7.133000	0.77259	0.336000	0.23639	0.528000	0.53228	ACA		0.383	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086223.1	NM_002022		78	107	0	0	0	0.00361	0	78	107				
GLUL	2752	broad.mit.edu	37	1	182353654	182353654	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr1:182353654G>A	ENST00000331872.6	-	7	1548	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	GLUL_ENST00000339526.4_Silent_p.Y336Y|GLUL_ENST00000311223.5_Silent_p.Y336Y|GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Silent_p.Y336Y	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	336					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.Y336Y(1)		endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GATCTTCAAAGTAACCCTTCT	0.547																																							uc001gpa.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(1006-1008)TAC>TAT		glutamine synthetase	Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)						85.0	80.0	81.0					1																	182353654		2203	4300	6503	SO:0001819	synonymous_variant	2752				cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding	g.chr1:182353654G>A	AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.1008C>T	1.37:g.182353654G>A						GLUL_uc010pnt.1_Silent_p.Y123Y|GLUL_uc001gpb.1_Silent_p.Y336Y|GLUL_uc001gpc.1_Silent_p.Y336Y|GLUL_uc001gpd.1_Silent_p.Y336Y	p.Y336Y	NM_001033056	NP_001028228	P15104	GLNA_HUMAN			7	1220	-			336					Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Silent	SNP	ENST00000331872.6	37	c.1008C>T	CCDS1344.1																																																																																				0.547	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091043.1	NM_002065		5	82	0	0	0	0.000602	0	5	82				
ZNF25	219749	broad.mit.edu	37	10	38241751	38241751	+	Silent	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:38241751T>C	ENST00000302609.7	-	6	887	c.675A>G	c.(673-675)acA>acG	p.T225T	AL117337.1_ENST00000582458.1_RNA|ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	225					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.T225T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GTTTCTCCCCTGTGTGTGTTT	0.423																																							uc001ize.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(673-675)ACA>ACG		zinc finger protein 25							132.0	124.0	127.0					10																	38241751		2203	4300	6503	SO:0001819	synonymous_variant	219749				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:38241751T>C	AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.675A>G	10.37:g.38241751T>C						ZNF25_uc001izf.1_Silent_p.T189T	p.T225T	NM_145011	NP_659448	P17030	ZNF25_HUMAN			6	780	-		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)	225					A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	ENST00000302609.7	37	c.675A>G	CCDS7195.1																																																																																				0.423	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051214.1	NM_145011, NM_006966		13	276	0	0	0	0.001855	0	13	276				
LOC399815	399815	broad.mit.edu	37	10	124647809	124647809	+	RNA	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:124647809C>A	ENST00000425266.1	+	0	0																											TGAAGAGCAGCTTCAGTTGGT	0.378																																							uc001lgu.3		NA																	0					0						c.(178-180)CTT>ATT		RecName: Full=Putative uncharacterized C10orf88-like protein;																																						399815							g.chr10:124647809C>A																													10.37:g.124647809C>A						LOC399815_uc010qua.1_Missense_Mutation_p.L22I	p.L60I							7	1076	+									Missense_Mutation	SNP	ENST00000425266.1	37	c.178C>A																																																																																					0.378	RP11-564D11.3-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000331659.1			12	36	1	0	3.07112e-06	0.000978	1.13745e-05	12	36				
Unknown	0	broad.mit.edu	37	10	135491085	135491085	+	IGR	SNP	T	T	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr10:135491085T>A								AL845259.1 (17906 upstream) : None (None downstream)																							CCGGCGGGGGTCACCCTGCTC	0.741																																							uc010qvi.1		NA																	0					0						c.(694-696)GGT>GGA		double homeobox, 4-like																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491085T>A																													10.37:g.135491085T>A							p.G232G	NM_001127389	NP_001120861	F5GZ66	F5GZ66_HUMAN			1	807	+			232						Silent	SNP		37	c.696T>A																																																																																				0	0.741									7	24	0	0	0	0.008291	0	7	24				
ATM	472	broad.mit.edu	37	11	108236107	108236107	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108236107G>T	ENST00000452508.2	+	64	9232	c.9043G>T	c.(9043-9045)Gag>Tag	p.E3015*	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.E3015*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3015					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)	p.E3015*(2)		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)	GAGACTACAAGAGAAACTGAA	0.423			"""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		2	Substitution - Nonsense(2)		lung(2)	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.(9043-9045)GAG>TAG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	ataxia telangiectasia mutated isoform 1							133.0	130.0	131.0					11																	108236107		2201	4298	6499	SO:0001587	stop_gained	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.chr11:108236107G>T	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.9043G>T	11.37:g.108236107G>T	ENSP00000388058:p.Glu3015*	TSP Lung(14;0.12)				ATM_uc009yxr.1_Nonsense_Mutation_p.E3015*|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Nonsense_Mutation_p.E1667*	p.E3015*	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)	63	9428	+		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)	3015					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	ENST00000452508.2	37	c.9043G>T	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	G	50	16.333503	0.99860	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.09	5.09	0.68999	.	0.051788	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	18.7508	0.91814	0.0:0.0:1.0:0.0	.	.	.	.	X	3015	.	ENSP00000278616:E3015X	E	+	1	0	ATM	107741317	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	7.431000	0.80335	2.657000	0.90304	0.558000	0.71614	GAG		0.423	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		48	33	1	0	5.13769e-22	0.00361	2.11138e-21	48	33				
EXPH5	23086	broad.mit.edu	37	11	108383265	108383265	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr11:108383265T>C	ENST00000265843.4	-	6	3079	c.2969A>G	c.(2968-2970)gAa>gGa	p.E990G	EXPH5_ENST00000525344.1_Missense_Mutation_p.E983G|EXPH5_ENST00000428840.1_Missense_Mutation_p.E914G|EXPH5_ENST00000443411.1_Missense_Mutation_p.E802G|EXPH5_ENST00000524840.1_5'Flank	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	990					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.E990G(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TGATATACTTTCTGTTTTGCT	0.363																																							uc001pkk.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(2968-2970)GAA>GGA		exophilin 5 isoform a							123.0	111.0	115.0					11																	108383265		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108383265T>C		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.2969A>G	11.37:g.108383265T>C	ENSP00000265843:p.Glu990Gly					EXPH5_uc010rvy.1_Missense_Mutation_p.E802G|EXPH5_uc010rvz.1_Missense_Mutation_p.E834G|EXPH5_uc010rwa.1_Missense_Mutation_p.E914G	p.E990G	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	3080	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	990					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.2969A>G	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	T	10.39	1.337908	0.24253	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312;ENST00000533052	T;T;T;T;T;T	0.05447	4.06;3.99;3.84;4.06;3.9;3.44	6.02	1.98	0.26296	.	0.181110	0.38959	N	0.001501	T	0.07413	0.0187	L	0.56769	1.78	0.20563	N	0.999888	B	0.27559	0.181	B	0.30646	0.118	T	0.23440	-1.0188	10	0.46703	T	0.11	-13.0914	6.011	0.19575	0.0:0.167:0.143:0.69	.	990	Q8NEV8	EXPH5_HUMAN	G	990;914;802;983;914;802	ENSP00000265843:E990G;ENSP00000391966:E914G;ENSP00000411390:E802G;ENSP00000432546:E983G;ENSP00000432683:E914G;ENSP00000446434:E802G	ENSP00000265843:E990G	E	-	2	0	EXPH5	107888475	0.132000	0.22450	0.268000	0.24571	0.571000	0.35966	0.709000	0.25734	0.505000	0.28104	0.533000	0.62120	GAA		0.363	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		30	119	0	0	0	0.002836	0	30	119				
KDM5A	5927	broad.mit.edu	37	12	442778	442778	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:442778C>A	ENST00000399788.2	-	12	1890	c.1528G>T	c.(1528-1530)Gct>Tct	p.A510S	KDM5A_ENST00000382815.4_Missense_Mutation_p.A510S	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	510	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|multicellular organismal development (GO:0007275)|negative regulation of histone deacetylase activity (GO:1901726)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.A510S(2)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TGCTCTGCAGCATGAGATGGC	0.493			T	NUP98	AML																																		uc001qif.1		NA		Dom	yes		12	12p11	5927	T 	"""lysine (K)-specific demethylase 5A, JARID1A"""			L	NUP98		AML		2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(1528-1530)GCT>TCT		retinoblastoma binding protein 2 isoform 1							128.0	128.0	128.0					12																	442778		2025	4193	6218	SO:0001583	missense	5927				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr12:442778C>A		CCDS41736.1	12p13.33	2013-01-28	2009-04-06	2009-04-06	ENSG00000073614	ENSG00000073614		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	9886	protein-coding gene	gene with protein product		180202	"""retinoblastoma-binding protein 2"", ""Jumonji, AT rich interactive domain 1A (RBBP2-like)"", ""jumonji, AT rich interactive domain 1A"""	RBBP2, JARID1A		1857421	Standard	NM_001042603		Approved		uc001qif.1	P29375	OTTHUMG00000168055	ENST00000399788.2:c.1528G>T	12.37:g.442778C>A	ENSP00000382688:p.Ala510Ser					KDM5A_uc001qie.1_Missense_Mutation_p.A510S|KDM5A_uc010sdn.1_Missense_Mutation_p.A469S|KDM5A_uc010sdo.1_Missense_Mutation_p.A129S	p.A510S	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN			12	1891	-			510			JmjC.		A8MV76|Q4LE72|Q86XZ1	Missense_Mutation	SNP	ENST00000399788.2	37	c.1528G>T	CCDS41736.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345811	0.82022	.	.	ENSG00000073614	ENST00000261253;ENST00000399787;ENST00000399788;ENST00000382815;ENST00000544760	T;T;T	0.70631	-0.5;-0.5;-0.5	5.76	5.76	0.90799	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	L	0.35793	1.09	0.80722	D	1	B;B;B;P	0.34909	0.181;0.018;0.01;0.475	B;B;B;B	0.39876	0.128;0.049;0.038;0.312	T	0.68591	-0.5368	10	0.52906	T	0.07	-12.2128	19.9635	0.97259	0.0:1.0:0.0:0.0	.	129;510;510;510	B4DVX3;F5H1F7;P29375;P29375-2	.;.;KDM5A_HUMAN;.	S	129;469;510;510;129	ENSP00000382688:A510S;ENSP00000372265:A510S;ENSP00000440622:A129S	ENSP00000261253:A129S	A	-	1	0	KDM5A	313039	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.814000	0.86154	2.714000	0.92807	0.591000	0.81541	GCT		0.493	KDM5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397812.1	NM_005056		66	91	1	0	2.36135e-34	0.00361	1.04177e-33	66	91				
CLEC9A	283420	broad.mit.edu	37	12	10213811	10213811	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:10213811G>T	ENST00000355819.1	+	6	871	c.258G>T	c.(256-258)aaG>aaT	p.K86N		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	86					positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.K86N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CAGAATGGAAGAGAAGCTGTG	0.408																																							uc001qxa.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(256-258)AAG>AAT		C-type lectin domain family 9, member A							92.0	86.0	88.0					12																	10213811		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10213811G>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.258G>T	12.37:g.10213811G>T	ENSP00000348074:p.Lys86Asn						p.K86N	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			6	871	+			86			Extracellular (Potential).		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.258G>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	G	8.265	0.812078	0.16537	.	.	ENSG00000197992	ENST00000355819	T	0.01438	4.89	4.0	-1.38	0.09027	C-type lectin-like (1);	1.095870	0.07076	N	0.836270	T	0.00906	0.0030	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48603	-0.9021	10	0.20519	T	0.43	.	6.6304	0.22853	0.093:0.0:0.2951:0.6119	.	86	Q6UXN8	CLC9A_HUMAN	N	86	ENSP00000348074:K86N	ENSP00000348074:K86N	K	+	3	2	CLEC9A	10105078	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.065000	0.11617	-0.269000	0.09298	-0.152000	0.13540	AAG		0.408	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		31	61	1	0	1.99505e-19	0.002445	7.98021e-19	31	61				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|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)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052						c.(34-36)GGT>GAT		c-K-ras2 protein isoform a precursor							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.2_RNA	p.G12D	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	216	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		12	12	0	0	0	0.001855	0	12	12				
BICD1	636	broad.mit.edu	37	12	32491750	32491750	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr12:32491750C>G	ENST00000281474.5	+	8	2704	c.2601C>G	c.(2599-2601)agC>agG	p.S867R	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	867					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)	p.S867R(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			GTGATCAGAGCCGTCCCAGGA	0.428																																							uc001rku.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(2599-2601)AGC>AGG		bicaudal D homolog 1 isoform 1							106.0	119.0	115.0					12																	32491750		2203	4300	6503	SO:0001583	missense	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32491750C>G	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.2601C>G	12.37:g.32491750C>G	ENSP00000281474:p.Ser867Arg					BICD1_uc001rkv.2_Intron|BICD1_uc010skd.1_RNA	p.S867R	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		8	2682	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		867					A8K2C3|F8W113|O43892|O43893	Missense_Mutation	SNP	ENST00000281474.5	37	c.2601C>G	CCDS8726.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173066	0.38413	.	.	ENSG00000151746	ENST00000281474	T	0.52057	0.68	5.61	4.71	0.59529	.	0.111299	0.40818	N	0.001020	T	0.29458	0.0734	N	0.08118	0	0.80722	D	1	B	0.23058	0.079	B	0.23574	0.047	T	0.12993	-1.0526	10	0.72032	D	0.01	.	11.9402	0.52896	0.0:0.9185:0.0:0.0815	.	867	Q96G01	BICD1_HUMAN	R	867	ENSP00000281474:S867R	ENSP00000281474:S867R	S	+	3	2	BICD1	32383017	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.188000	0.42612	1.348000	0.45733	0.591000	0.81541	AGC		0.428	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		97	294	0	0	0	0.00361	0	97	294				
TC2N	123036	broad.mit.edu	37	14	92268648	92268648	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr14:92268648A>T	ENST00000435962.2	-	4	742	c.419T>A	c.(418-420)tTg>tAg	p.L140*	TC2N_ENST00000360594.5_Nonsense_Mutation_p.L140*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.L140*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.L140*	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	140					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	nucleus (GO:0005634)		p.L140*(2)		breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GCGTCGACTCAAATCAGGTGA	0.418																																							uc001xzu.3		NA																	2	Substitution - Nonsense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(418-420)TTG>TAG		tandem C2 domains, nuclear							138.0	112.0	120.0					14																	92268648		2203	4300	6503	SO:0001587	stop_gained	123036					nucleus		g.chr14:92268648A>T	AA243837	CCDS9897.1, CCDS73679.1	14q32.12	2007-10-17	2007-08-17	2007-08-17		ENSG00000165929			19859	protein-coding gene	gene with protein product	"""C2 calcium-dependent domain containing 1"""		"""chromosome 14 open reading frame 47"", ""membrane targeting (tandem) C2 domain containing 1"""	C14orf47, MTAC2D1		11526914	Standard	NM_001128596		Approved	FLJ36557, Tac2-N, C2CD1	uc001xzt.4	Q8N9U0		ENST00000435962.2:c.419T>A	14.37:g.92268648A>T	ENSP00000387882:p.Leu140*					TC2N_uc001xzt.3_Nonsense_Mutation_p.L140*|TC2N_uc010auc.2_Nonsense_Mutation_p.L140*|TC2N_uc001xzv.3_Nonsense_Mutation_p.L140*	p.L140*	NM_001128595	NP_001122067	Q8N9U0	TAC2N_HUMAN		COAD - Colon adenocarcinoma(157;0.218)	4	610	-			140						Nonsense_Mutation	SNP	ENST00000435962.2	37	c.419T>A	CCDS9897.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777250	0.70107	.	.	ENSG00000165929	ENST00000435962;ENST00000340892;ENST00000360594;ENST00000556018	.	.	.	5.63	5.63	0.86233	.	0.314529	0.28624	N	0.014688	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7907	12.1163	0.53868	0.8717:0.0:0.0:0.1283	.	.	.	.	X	140	.	ENSP00000343199:L140X	L	-	2	0	TC2N	91338401	0.036000	0.19791	0.043000	0.18650	0.040000	0.13550	2.732000	0.47352	2.135000	0.66039	0.528000	0.53228	TTG		0.418	TC2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411778.1	NM_152332		81	43	0	0	0	0.00361	0	81	43				
RFX7	64864	broad.mit.edu	37	15	56387452	56387452	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr15:56387452C>A	ENST00000559447.2	-	9	2454	c.2183G>T	c.(2182-2184)gGa>gTa	p.G728V	RFX7_ENST00000317318.6_Missense_Mutation_p.G825V|RFX7_ENST00000423270.1_Missense_Mutation_p.G825V|RFX7_ENST00000422057.1_Missense_Mutation_p.G728V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	728					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G825V(1)|p.G728V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGTGGCATTCCTTCTAATTC	0.388																																							uc010bfn.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(2473-2475)GGA>GTA		regulatory factor X domain containing 2							136.0	133.0	134.0					15																	56387452		1899	4126	6025	SO:0001583	missense	64864				regulation of transcription, DNA-dependent	nucleus	DNA binding	g.chr15:56387452C>A			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.2183G>T	15.37:g.56387452C>A	ENSP00000453281:p.Gly728Val					RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.G639V	p.G825V	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN			9	2474	-			728					Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	37	c.2474G>T		.	.	.	.	.	.	.	.	.	.	C	16.99	3.275186	0.59649	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.54479	0.57;0.57;0.57	5.44	5.44	0.79542	.	0.085821	0.48767	D	0.000171	T	0.60971	0.2310	N	0.24115	0.695	0.80722	D	1	D;P	0.89917	1.0;0.693	D;P	0.69824	0.966;0.568	T	0.64584	-0.6373	10	0.59425	D	0.04	-5.032	18.2487	0.89996	0.0:1.0:0.0:0.0	.	728;728	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	728;825;825	ENSP00000387504:G728V;ENSP00000313299:G825V;ENSP00000397644:G825V	ENSP00000313299:G825V	G	-	2	0	RFX7	54174744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.405000	0.59741	2.531000	0.85337	0.563000	0.77884	GGA		0.388	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841		73	96	1	0	1.96331e-54	0.00361	9.06144e-54	73	96				
OR1F2P	26184	broad.mit.edu	37	16	3266071	3266071	+	RNA	SNP	A	A	G	rs2550401	byFrequency	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:3266071A>G	ENST00000576468.1	+	0	418																											GCCAACTCGAATGCTCTGCTG	0.562													a|||	2231	0.445487	0.3313	0.5576	5008	,	,		22310	0.5149		0.4553	False		,,,				2504	0.4387						uc010uwv.1		NA																	0					0						c.(361-363)AAT>AGT		RecName: Full=Olfactory receptor 1F2; AltName: Full=OLFmf2;																																						26184							g.chr16:3266071A>G																													16.37:g.3266071A>G							p.N121S	NR_002169						1	510	+									Missense_Mutation	SNP	ENST00000576468.1	37	c.362A>G																																																																																					0.562	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			3	58	0	0	0	0.004672	0	3	58				
BBS2	583	broad.mit.edu	37	16	56545113	56545113	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr16:56545113A>G	ENST00000245157.5	-	3	849	c.429T>C	c.(427-429)gcT>gcC	p.A143A	BBS2_ENST00000561951.1_5'UTR|BBS2_ENST00000568104.1_Silent_p.A143A	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	143					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.A143A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						AACCTTGCAGAGCACAATTGC	0.398									Bardet-Biedl syndrome																														uc002ejd.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(427-429)GCT>GCC		Bardet-Biedl syndrome 2 protein							126.0	109.0	115.0					16																	56545113		2198	4300	6498	SO:0001819	synonymous_variant	583	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56545113A>G	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.429T>C	16.37:g.56545113A>G						BBS2_uc010ccg.2_Silent_p.A143A	p.A143A	NM_031885	NP_114091	Q9BXC9	BBS2_HUMAN			3	663	-			143					Q96CM0|Q96SN9	Silent	SNP	ENST00000245157.5	37	c.429T>C	CCDS32451.1																																																																																				0.398	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	NM_031885		59	168	0	0	0	0.00361	0	59	168				
MYH1	4619	broad.mit.edu	37	17	10412919	10412919	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr17:10412919C>A	ENST00000226207.5	-	15	1564	c.1470G>T	c.(1468-1470)caG>caT	p.Q490H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	490	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.Q490H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGTTGAAAAACTGTTGCAGTT	0.433																																							uc002gmo.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(1468-1470)CAG>CAT		myosin, heavy chain 1, skeletal muscle, adult							158.0	138.0	144.0					17																	10412919		2203	4297	6500	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10412919C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1470G>T	17.37:g.10412919C>A	ENSP00000226207:p.Gln490His					uc002gml.1_Intron	p.Q490H	NM_005963	NP_005954	P12882	MYH1_HUMAN			15	1564	-			490			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1470G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987290	0.74589	.	.	ENSG00000109061	ENST00000226207	D	0.89746	-2.56	4.16	3.19	0.36642	Myosin head, motor domain (2);	0.000000	0.41194	U	0.000936	D	0.95726	0.8610	H	0.96301	3.8	0.53688	D	0.99997	D	0.71674	0.998	D	0.75020	0.985	D	0.96252	0.9184	10	0.87932	D	0	.	12.3377	0.55077	0.0:0.9174:0.0:0.0826	.	490	P12882	MYH1_HUMAN	H	490	ENSP00000226207:Q490H	ENSP00000226207:Q490H	Q	-	3	2	MYH1	10353644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.560000	0.45896	1.106000	0.41623	0.561000	0.74099	CAG		0.433	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		75	85	1	0	3.48418e-26	0.00361	1.47219e-25	75	85				
ZNF112	7771	broad.mit.edu	37	19	44847409	44847409	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr19:44847409G>A	ENST00000337401.4	-	2	100	c.12C>T	c.(10-12)ttC>ttT	p.F4F	ZNF112_ENST00000536500.1_Silent_p.F21F|ZNF112_ENST00000354340.4_Intron|CTC-512J12.6_ENST00000588212.1_Intron	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	4				KFQ -> VSK (in Ref. 1; AAF12816). {ECO:0000305}.	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.F4F(1)									AGCTCACCTGGAATTTGGTCA	0.403																																						Melanoma(53;975 1202 7512 15993 27273)	uc010ejj.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(10-12)TTC>TTT		zinc finger protein 228 isoform 1							144.0	148.0	147.0					19																	44847409		1874	4104	5978	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44847409G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.12C>T	19.37:g.44847409G>A						ZFP112_uc002ozc.3_Intron|ZFP112_uc010xwy.1_Silent_p.F21F|ZFP112_uc010xwz.1_Intron	p.F4F	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			2	125	-			4	KFQ -> VSK (in Ref. 1; AAF12816).				A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.12C>T	CCDS54276.1																																																																																				0.403	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		31	83	0	0	0	0.003271	0	31	83				
ALMS1	7840	broad.mit.edu	37	2	73830395	73830395	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830395C>T	ENST00000264448.6	+	21	12434	c.12323C>T	c.(12322-12324)cCt>cTt	p.P4108L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P4066L|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4108	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.P4108L(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAGAACAAGCCTATCAGCAAG	0.483																																							uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(12328-12330)CCT>CTT		Alstrom syndrome 1							101.0	98.0	99.0					2																	73830395		2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73830395C>T	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12323C>T	2.37:g.73830395C>T	ENSP00000264448:p.Pro4108Leu					ALMS1_uc002sjf.1_Missense_Mutation_p.P4066L|ALMS1_uc002sjh.1_Missense_Mutation_p.P3496L	p.P4110L	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			23	12440	+			4108					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12329C>T	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.544449	0.27563	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.05447	3.44;3.44	5.13	3.34	0.38264	.	0.247271	0.33161	N	0.005211	T	0.15132	0.0365	L	0.46157	1.445	0.19575	N	0.999966	D;D	0.89917	0.964;1.0	P;D	0.83275	0.841;0.996	T	0.02411	-1.1163	10	0.59425	D	0.04	.	7.272	0.26262	0.0:0.7344:0.0:0.2656	.	4066;4108	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	L	4066;4108	ENSP00000386627:P4066L;ENSP00000264448:P4108L	ENSP00000264448:P4108L	P	+	2	0	ALMS1	73683903	0.010000	0.17322	0.020000	0.16555	0.037000	0.13140	0.966000	0.29331	0.861000	0.35504	0.650000	0.86243	CCT		0.483	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		13	23	0	0	0	0.004007	0	13	23				
ALMS1	7840	broad.mit.edu	37	2	73830399	73830399	+	Missense_Mutation	SNP	C	C	G	rs375524122		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:73830399C>G	ENST00000264448.6	+	21	12438	c.12327C>G	c.(12325-12327)atC>atG	p.I4109M	ALMS1_ENST00000409009.1_Missense_Mutation_p.I4067M|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4109	ALMS motif.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)		p.I4109M(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAAGCCTATCAGCAAGAAGG	0.488													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19816	0.0		0.0	False		,,,				2504	0.0						uc002sje.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1)	9						c.(12331-12333)ATC>ATG		Alstrom syndrome 1		C	MET/ILE	3,4403	6.2+/-15.9	0,3,2200	97.0	95.0	96.0		12327	0.1	0.3	2		96	0,8600		0,0,4300	no	missense	ALMS1	NM_015120.4	10	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	probably-damaging	4109/4168	73830399	3,13003	2203	4300	6503	SO:0001583	missense	7840				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		g.chr2:73830399C>G	AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12327C>G	2.37:g.73830399C>G	ENSP00000264448:p.Ile4109Met					ALMS1_uc002sjf.1_Missense_Mutation_p.I4067M|ALMS1_uc002sjh.1_Missense_Mutation_p.I3497M	p.I4111M	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN			23	12444	+			4109					Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	c.12333C>G	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259724	0.39995	6.81E-4	0.0	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.11385	2.78;2.78	5.13	0.0886	0.14455	.	0.487228	0.20968	N	0.082458	T	0.16642	0.0400	L	0.43152	1.355	0.25598	N	0.986627	P;D	0.67145	0.897;0.996	P;D	0.65010	0.529;0.931	T	0.07290	-1.0780	10	0.87932	D	0	.	4.1109	0.10058	0.1533:0.3312:0.0:0.5155	.	4067;4109	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	M	4067;4109	ENSP00000386627:I4067M;ENSP00000264448:I4109M	ENSP00000264448:I4109M	I	+	3	3	ALMS1	73683907	1.000000	0.71417	0.346000	0.25655	0.034000	0.12701	1.007000	0.29860	-0.059000	0.13154	-0.907000	0.02831	ATC		0.488	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120		11	22	0	0	0	0.00245	0	11	22				
REG1B	5968	broad.mit.edu	37	2	79314711	79314711	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:79314711G>T	ENST00000305089.3	-	2	108	c.28C>A	c.(28-30)Ctg>Atg	p.L10M		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	10					cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.L10M(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GAGGAGATCAGCATGAAGAAC	0.493																																							uc002sny.2		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(28-30)CTG>ATG		regenerating islet-derived 1 beta precursor							147.0	122.0	130.0					2																	79314711		2203	4300	6503	SO:0001583	missense	5968				cell proliferation	extracellular region	sugar binding	g.chr2:79314711G>T		CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.28C>A	2.37:g.79314711G>T	ENSP00000303206:p.Leu10Met					REG1B_uc010ffv.1_Missense_Mutation_p.L10M|REG1B_uc010ffw.2_Missense_Mutation_p.L10M	p.L10M	NM_006507	NP_006498	P48304	REG1B_HUMAN			2	140	-			10						Missense_Mutation	SNP	ENST00000305089.3	37	c.28C>A	CCDS1963.1	.	.	.	.	.	.	.	.	.	.	g	12.94	2.089902	0.36855	.	.	ENSG00000172023	ENST00000305089	T	0.05996	3.36	2.71	1.82	0.25136	.	0.304180	0.17979	N	0.155602	T	0.22244	0.0536	M	0.86028	2.79	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.02683	-1.1124	10	0.72032	D	0.01	.	5.413	0.16358	0.1606:0.0:0.8394:0.0	.	10;10	Q6ICS1;P48304	.;REG1B_HUMAN	M	10	ENSP00000303206:L10M	ENSP00000303206:L10M	L	-	1	2	REG1B	79168219	0.015000	0.18098	0.003000	0.11579	0.115000	0.19883	0.477000	0.22196	0.699000	0.31761	0.555000	0.69702	CTG		0.493	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252292.2	NM_006507		23	24	1	0	2.44723e-14	0.004656	9.41243e-14	23	24				
RANBP2	5903	broad.mit.edu	37	2	109381162	109381162	+	Silent	SNP	A	A	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:109381162A>T	ENST00000283195.6	+	20	4293	c.4167A>T	c.(4165-4167)ccA>ccT	p.P1389P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1389					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P1389P(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGGCCCACCATTAGCTGAAA	0.408																																							uc002tem.3		NA																RANBP2/ALK(16)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(4165-4167)CCA>CCT		RAN binding protein 2							95.0	96.0	96.0					2																	109381162		2203	4300	6503	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109381162A>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4167A>T	2.37:g.109381162A>T							p.P1389P	NM_006267	NP_006258	P49792	RBP2_HUMAN			20	4293	+			1389					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.4167A>T	CCDS2079.1																																																																																				0.408	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		87	162	0	0	0	0.00361	0	87	162				
OSBPL6	114880	broad.mit.edu	37	2	179247751	179247751	+	Splice_Site	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179247751T>C	ENST00000190611.4	+	17	1998	c.1622T>C	c.(1621-1623)aTc>aCc	p.I541T	OSBPL6_ENST00000409045.3_Splice_Site_p.I510T|OSBPL6_ENST00000315022.2_Splice_Site_p.I545T|OSBPL6_ENST00000392505.2_Splice_Site_p.I566T|OSBPL6_ENST00000359685.3_Splice_Site_p.I505T|OSBPL6_ENST00000409631.1_Splice_Site_p.I505T	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	541					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.I541T(1)|p.I566T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			CTTCTTCCAGTCCTGAATGGG	0.453																																							uc002ulx.2		NA																	2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(1621-1623)ATC>ACC		oxysterol-binding protein-like protein 6 isoform							64.0	66.0	65.0					2																	179247751		2203	4300	6503	SO:0001630	splice_region_variant	114880				lipid transport		lipid binding	g.chr2:179247751T>C	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.1622-1T>C	2.37:g.179247751T>C						OSBPL6_uc002uly.2_Missense_Mutation_p.I566T|OSBPL6_uc010zfe.1_Missense_Mutation_p.I510T|OSBPL6_uc002ulz.2_Missense_Mutation_p.I505T|OSBPL6_uc002uma.2_Missense_Mutation_p.I545T	p.I541T	NM_032523	NP_115912	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		17	2000	+			541					B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.1622T>C	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	T	11.47	1.648861	0.29336	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T	0.11712	2.77;2.75;2.79;2.79;2.75;2.77	6.04	6.04	0.98038	.	0.099877	0.64402	D	0.000001	T	0.06325	0.0163	N	0.04090	-0.28	0.80722	D	1	B;P;P;P;B	0.36535	0.001;0.481;0.557;0.481;0.255	B;B;B;B;B	0.36092	0.01;0.164;0.217;0.164;0.038	T	0.52396	-0.8581	9	.	.	.	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	510;545;505;566;541	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3	.;.;.;.;OSBL6_HUMAN	T	566;505;510;541;505;545	ENSP00000376293:I566T;ENSP00000352713:I505T;ENSP00000387248:I510T;ENSP00000190611:I541T;ENSP00000386885:I505T;ENSP00000318723:I545T	.	I	+	2	0	OSBPL6	178955997	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	7.303000	0.78871	2.317000	0.78254	0.460000	0.39030	ATC		0.453	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	NM_032523	Missense_Mutation	44	57	0	0	0	0.00361	0	44	57				
TTN	7273	broad.mit.edu	37	2	179615912	179615912	+	Intron	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr2:179615912T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.K3739E|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			AGAATATCTTTATCACTAGCT	0.338																																							uc002unb.2		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.(11215-11217)AAA>GAA		titin isoform novex-3							53.0	52.0	52.0					2																	179615912		2202	4296	6498	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179615912T>C	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.10360+1938A>G	2.37:g.179615912T>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.K3739E	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11439	-			9587					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.11215A>G		.	.	.	.	.	.	.	.	.	.	T	16.12	3.033229	0.54896	.	.	ENSG00000155657	ENST00000360870	T	0.59224	0.28	5.77	2.0	0.26442	.	.	.	.	.	T	0.34164	0.0888	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.28267	-1.0049	9	0.02654	T	1	.	6.4308	0.21796	0.0:0.1274:0.2716:0.601	.	3739	Q8WZ42-6	.	E	3739	ENSP00000354117:K3739E	ENSP00000354117:K3739E	K	-	1	0	TTN	179324157	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	1.081000	0.30791	0.160000	0.19432	0.533000	0.62120	AAA		0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	126	0	0	0	0.001786	0	33	126				
FRG1B	284802	broad.mit.edu	37	20	29624093	29624093	+	Splice_Site	SNP	G	G	T	rs75468660		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:29624093G>T	ENST00000278882.3	+	4	496		c.e4+1		FRG1B_ENST00000358464.4_Splice_Site|FRG1B_ENST00000439954.2_Splice_Site			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B									p.?(6)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CTGATTCCAGGTGAGCTTATG	0.299																																							uc010ztl.1		NA																	6	Unknown(6)		kidney(4)|prostate(2)		0						c.e1+1		Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA.																																				SO:0001630	splice_region_variant	284802							g.chr20:29624093G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.116+1G>T	20.37:g.29624093G>T						FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron	p.R9_splice							1	58	+								C4AME5	Splice_Site	SNP	ENST00000278882.3	37	c.26_splice		.	.	.	.	.	.	.	.	.	.	.	11.58	1.679853	0.29783	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	1.91	1.91	0.25777	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FRG1B	28237754	1.000000	0.71417	0.991000	0.47740	0.586000	0.36452	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	.		0.299	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	Intron	3	33	1	0	8.12818e-05	0.001984	0.000290292	3	33				
BPI	671	broad.mit.edu	37	20	36952397	36952397	+	Silent	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:36952397G>A	ENST00000262865.4	+	8	983	c.894G>A	c.(892-894)ggG>ggA	p.G298G	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	298					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)	p.G298G(1)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				ACACAGCCGGGCTTGTATACC	0.557																																							uc002xib.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(892-894)GGG>GGA		bactericidal/permeability-increasing protein							79.0	71.0	74.0					20																	36952397		2203	4300	6503	SO:0001819	synonymous_variant	671				defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	g.chr20:36952397G>A	J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.894G>A	20.37:g.36952397G>A							p.G298G	NM_001725	NP_001716	P17213	BPI_HUMAN			8	956	+		Myeloproliferative disorder(115;0.00878)	298					B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Silent	SNP	ENST00000262865.4	37	c.894G>A	CCDS13303.1	.	.	.	.	.	.	.	.	.	.	G	5.993	0.367069	0.11352	.	.	ENSG00000101425	ENST00000417318	T	0.07021	3.23	4.5	-4.62	0.03370	.	0.604058	0.15699	N	0.249017	T	0.05914	0.0154	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26503	-1.0101	7	0.49607	T	0.09	-5.7434	2.0281	0.03523	0.3174:0.3479:0.2222:0.1126	.	.	.	.	D	124	ENSP00000409833:G124D	ENSP00000409833:G124D	G	+	2	0	BPI	36385811	0.000000	0.05858	0.000000	0.03702	0.145000	0.21501	-0.687000	0.05156	-0.651000	0.05415	0.655000	0.94253	GGC		0.557	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079157.2	NM_001725		30	33	0	0	0	0.002836	0	30	33				
GNAS	2778	broad.mit.edu	37	20	57428785	57428785	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr20:57428785C>G	ENST00000371100.4	+	1	1017	c.465C>G	c.(463-465)agC>agG	p.S155R	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S155R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.S155R|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.A92G|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000464624.2_3'UTR|GNAS-AS1_ENST00000598163.1_RNA	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.S155R(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GAGGATACAGCCCTCCACCAG	0.612			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NA		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		1	Substitution - Missense(1)		lung(1)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(463-465)AGC>AGG		GNAS complex locus XLas							34.0	40.0	39.0					20																	57428785		1945	4150	6095	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57428785C>G	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.465C>G	20.37:g.57428785C>G	ENSP00000360141:p.Ser155Arg	TSP Lung(22;0.16)				GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA	p.S155R	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	750	+	all_lung(29;0.0104)		Error:Variant_position_missing_in_P63092_after_alignment					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.465C>G	CCDS46622.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.64|14.64	2.595757|2.595757	0.46318|0.46318	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000306120|ENST00000371099;ENST00000371100;ENST00000371102	.|D;D	.|0.91631	.|-2.88;-2.87	4.99|4.99	4.05|4.05	0.47172|0.47172	.|.	.|.	.|.	.|.	.|.	D|D	0.89674|0.89674	0.6783|0.6783	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|P	.|0.48911	.|0.917	.|B	.|0.41860	.|0.368	D|D	0.89350|0.89350	0.3660|0.3660	6|9	0.18276|0.66056	T|D	0.48|0.02	.|.	9.9476|9.9476	0.41618|0.41618	0.0:0.903:0.0:0.097|0.0:0.903:0.0:0.097	.|.	.|155	.|Q5JWF2	.|GNAS1_HUMAN	G|R	92|155	.|ENSP00000360141:S155R;ENSP00000360143:S155R	ENSP00000302237:A92G|ENSP00000360140:S155R	A|S	+|+	2|3	0|2	GNAS|GNAS	56862180|56862180	0.966000|0.966000	0.33281|0.33281	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	0.327000|0.327000	0.19663|0.19663	1.426000|1.426000	0.47256|0.47256	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.612	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		12	16	0	0	0	0.001855	0	12	16				
TMPRSS15	5651	broad.mit.edu	37	21	19642327	19642327	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr21:19642327C>A	ENST00000284885.3	-	25	3052	c.3019G>T	c.(3019-3021)Gtc>Ttc	p.V1007F		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	1007	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.V1007F(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACCTTGAGACCCTGGCATAC	0.433																																							uc002ykw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(3019-3021)GTC>TTC		enterokinase precursor							122.0	111.0	114.0					21																	19642327		2203	4300	6503	SO:0001583	missense	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19642327C>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.3019G>T	21.37:g.19642327C>A	ENSP00000284885:p.Val1007Phe						p.V1007F	NM_002772	NP_002763	P98073	ENTK_HUMAN			25	3050	-			1007			Extracellular (Potential).|Peptidase S1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.3019G>T	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412436	0.42817	.	.	ENSG00000154646	ENST00000284885	D	0.96940	-4.18	5.85	4.02	0.46733	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.315650	0.29594	N	0.011714	D	0.98732	0.9574	H	0.98965	4.385	0.21719	N	0.999572	D	0.62365	0.991	D	0.65874	0.939	D	0.93636	0.6960	9	.	.	.	.	12.1676	0.54139	0.0:0.8758:0.0:0.1242	.	1007	P98073	ENTK_HUMAN	F	1007	ENSP00000284885:V1007F	.	V	-	1	0	TMPRSS15	18564198	0.968000	0.33430	0.015000	0.15790	0.082000	0.17680	2.514000	0.45503	2.753000	0.94483	0.655000	0.94253	GTC		0.433	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		5	100	1	0	0.000602214	0.000602	0.00212546	5	100				
BAP1	8314	broad.mit.edu	37	3	52441235	52441235	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:52441235G>A	ENST00000460680.1	-	7	1006	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	BAP1_ENST00000296288.5_Missense_Mutation_p.R179W	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R179W(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TCAAAGAGCCGGCCTGTGATA	0.597			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	GBM(101;493 1458 7992 21037 25532)	uc003ddx.2		NA		Rec	yes		3	3p21.31-p21.2	8314	N|Mis|F|S|O	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)			E			uveal melanoma|breast|NSCLC		1	Substitution - Missense(1)		lung(1)	pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1)	65						c.(535-537)CGG>TGG		BRCA1 associated protein-1							73.0	71.0	71.0					3																	52441235		2203	4300	6503	SO:0001583	missense	8314				monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52441235G>A	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930			950	protein-coding gene	gene with protein product		603089				9528852	Standard	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.535C>T	3.37:g.52441235G>A	ENSP00000417132:p.Arg179Trp					BAP1_uc010hmh.2_5'Flank	p.R179W	NM_004656	NP_004647	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	7	650	-			179					B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000460680.1	37	c.535C>T	CCDS2853.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.125610	0.77436	.	.	ENSG00000163930	ENST00000460680;ENST00000296288;ENST00000470173	T;T;T	0.56776	0.44;0.44;0.44	6.05	4.22	0.49857	Peptidase C12, ubiquitin carboxyl-terminal hydrolase 1 (3);	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	M	0.86864	2.845	0.80722	D	1	P	0.52061	0.95	P	0.53401	0.725	T	0.77011	-0.2746	10	0.87932	D	0	-8.2031	15.6989	0.77528	0.0:0.0:0.7509:0.249	.	179	Q92560	BAP1_HUMAN	W	179;179;100	ENSP00000417132:R179W;ENSP00000296288:R179W;ENSP00000417776:R100W	ENSP00000296288:R179W	R	-	1	2	BAP1	52416275	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	4.617000	0.61204	0.833000	0.34828	0.655000	0.94253	CGG		0.597	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1			31	31	0	0	0	0.004878	0	31	31				
SENP7	57337	broad.mit.edu	37	3	101050843	101050843	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:101050843T>C	ENST00000394095.2	-	19	2737	c.2684A>G	c.(2683-2685)gAc>gGc	p.D895G	SENP7_ENST00000394085.3_Missense_Mutation_p.D83G|SENP7_ENST00000394094.2_Missense_Mutation_p.D830G|SENP7_ENST00000394091.1_Missense_Mutation_p.D731G|SENP7_ENST00000358203.3_Missense_Mutation_p.D731G|SENP7_ENST00000314261.7_Missense_Mutation_p.D829G|SENP7_ENST00000348610.3_Missense_Mutation_p.D862G	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	895	Protease.					intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.D895G(1)|p.D829G(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGTTTTGTTGTCATTTTGGGA	0.373																																							uc003dut.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(2)	5						c.(2683-2685)GAC>GGC		sentrin/SUMO-specific protease 7 isoform 1							203.0	180.0	188.0					3																	101050843		2203	4300	6503	SO:0001583	missense	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101050843T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2684A>G	3.37:g.101050843T>C	ENSP00000377655:p.Asp895Gly					SENP7_uc003duu.2_Missense_Mutation_p.D830G|SENP7_uc003duv.2_Missense_Mutation_p.D862G|SENP7_uc003duw.2_Missense_Mutation_p.D829G|SENP7_uc003dux.2_Missense_Mutation_p.D731G|SENP7_uc003dus.2_Missense_Mutation_p.D83G	p.D895G	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN			19	2795	-			895			Protease.		A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Missense_Mutation	SNP	ENST00000394095.2	37	c.2684A>G	CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	10.10	1.256354	0.22965	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	T;T;T;T;T;T;T	0.32023	2.02;2.03;2.03;2.05;2.05;1.47;2.03	5.4	2.94	0.34122	.	0.692629	0.14329	N	0.326499	T	0.24470	0.0593	L	0.42008	1.315	0.09310	N	1	B;B;B;B;B	0.11235	0.002;0.004;0.001;0.002;0.0	B;B;B;B;B	0.14578	0.001;0.011;0.008;0.01;0.0	T	0.23013	-1.0200	10	0.56958	D	0.05	0.0066	6.1133	0.20112	0.1211:0.1371:0.0:0.7418	.	731;829;862;895;83	Q9BQF6-4;Q9BQF6-5;Q9BQF6-2;Q9BQF6;Q9BQF6-3	.;.;.;SENP7_HUMAN;.	G	895;830;829;731;731;83;862	ENSP00000377655:D895G;ENSP00000377654:D830G;ENSP00000313624:D829G;ENSP00000377651:D731G;ENSP00000350936:D731G;ENSP00000377647:D83G;ENSP00000342159:D862G	ENSP00000313624:D829G	D	-	2	0	SENP7	102533533	0.207000	0.23482	0.250000	0.24296	0.965000	0.64279	2.331000	0.43894	0.394000	0.25230	0.482000	0.46254	GAC		0.373	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		11	189	0	0	0	0.001368	0	11	189				
CASR	846	broad.mit.edu	37	3	122002536	122002536	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:122002536G>A	ENST00000490131.1	+	7	2107	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_Missense_Mutation_p.A579T|CASR_ENST00000498619.1_Missense_Mutation_p.A589T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	579					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.A579T(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTTTACAGATGCCAGTGCCTG	0.473																																							uc003eev.3		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(1735-1737)GCC>ACC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						84.0	76.0	78.0					3																	122002536		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002536G>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1735G>A	3.37:g.122002536G>A	ENSP00000418685:p.Ala579Thr					CASR_uc003eew.3_Missense_Mutation_p.A589T	p.A579T	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2107	+			579			Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1735G>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941542	0.92526	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.89681	-2.55;-2.55;-2.55	5.91	5.91	0.95273	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	D	0.93177	0.7827	L	0.49640	1.575	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.87578	0.998;0.936	D	0.92893	0.6333	10	0.59425	D	0.04	.	19.2828	0.94058	0.0:0.0:1.0:0.0	.	589;579	E7ENE0;P41180	.;CASR_HUMAN	T	579;589;579	ENSP00000418685:A579T;ENSP00000420194:A589T;ENSP00000296154:A579T	ENSP00000296154:A579T	A	+	1	0	CASR	123485226	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.010000	0.88615	2.804000	0.96469	0.462000	0.41574	GCC		0.473	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		12	65	0	0	0	0.001368	0	12	65				
CPB1	1360	broad.mit.edu	37	3	148562468	148562468	+	Missense_Mutation	SNP	G	G	A	rs370907426		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:148562468G>A	ENST00000491148.1	+	9	1026	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	CPB1_ENST00000282957.4_Missense_Mutation_p.R231Q			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	231						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.R231Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TTTCAGAGCCGATTTTGGAGA	0.443																																							uc003ewl.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(691-693)CGA>CAA		pancreatic carboxypeptidase B1 preproprotein		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	104.0	104.0	104.0		692	5.8	1.0	3		104	0,8600		0,0,4300	no	missense	CPB1	NM_001871.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	231/418	148562468	1,13005	2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148562468G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.692G>A	3.37:g.148562468G>A	ENSP00000417222:p.Arg231Gln						p.R231Q	NM_001871	NP_001862	P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		8	715	+			231					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.692G>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915181	0.92178	2.27E-4	0.0	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.36878	1.23;1.23;1.23	5.78	5.78	0.91487	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.73659	0.3615	H	0.95079	3.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81373	-0.0962	10	0.87932	D	0	.	20.0124	0.97464	0.0:0.0:1.0:0.0	.	231	P15086	CBPB1_HUMAN	Q	231;231;197	ENSP00000417222:R231Q;ENSP00000282957:R231Q;ENSP00000419427:R197Q	ENSP00000282957:R231Q	R	+	2	0	CPB1	150045158	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	9.476000	0.97823	2.749000	0.94314	0.655000	0.94253	CGA		0.443	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		64	34	0	0	0	0.00361	0	64	34				
SLC7A14	57709	broad.mit.edu	37	3	170198379	170198379	+	Silent	SNP	C	C	A	rs371546088		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:170198379C>A	ENST00000231706.5	-	7	2007	c.1692G>T	c.(1690-1692)acG>acT	p.T564T	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	564					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T564T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGATGGTCACCGTGTGCCCCG	0.532																																							uc003fgz.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|liver(1)|central_nervous_system(1)	5						c.(1690-1692)ACG>ACT		solute carrier family 7 (cationic amino acid							90.0	82.0	84.0					3																	170198379		2203	4300	6503	SO:0001819	synonymous_variant	57709					integral to membrane	amino acid transmembrane transporter activity	g.chr3:170198379C>A	BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.1692G>T	3.37:g.170198379C>A						CLDN11_uc011bpt.1_Intron|uc003fha.1_Intron	p.T564T	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)		7	2008	-	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		564					B3KV33|Q9HCF9	Silent	SNP	ENST00000231706.5	37	c.1692G>T	CCDS33892.1																																																																																				0.532	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2	NM_020949		61	22	1	0	2.18419e-29	0.00361	9.4965e-29	61	22				
LINC00969	440993	broad.mit.edu	37	3	195400795	195400795	+	lincRNA	SNP	C	C	T	rs7615357	byFrequency	TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr3:195400795C>T	ENST00000445430.1	+	0	1391									long intergenic non-protein coding RNA 969																		GGGGCAAACTCGCTGTTGGAC	0.592																																							uc003fuw.2		NA																	0					0						c.(91-93)CGC>TGC		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400795C>T	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400795C>T						SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.R31C							9	1285	+									Missense_Mutation	SNP	ENST00000445430.1	37	c.91C>T																																																																																					0.592	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	58	0	0	0	0.001168	0	4	58				
EIF4E	1977	broad.mit.edu	37	4	99802265	99802265	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:99802265G>A	ENST00000450253.2	-	7	2092	c.568C>T	c.(568-570)Cct>Tct	p.P190S	EIF4E_ENST00000505992.1_Missense_Mutation_p.P221S|EIF4E_ENST00000280892.6_Missense_Mutation_p.P210S|EIF4E_ENST00000504432.1_Missense_Mutation_p.P218S	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	190					cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of mitotic cell cycle (GO:0045931)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|mRNA cap binding complex (GO:0005845)|RISC complex (GO:0016442)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation initiation factor activity (GO:0003743)	p.P190S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		ATCTTTGGAGGAAGTCCTAAC	0.358																																							uc003hue.2		NA																	1	Substitution - Missense(1)		lung(1)	lung(1)|central_nervous_system(1)	2						c.(568-570)CCT>TCT		eukaryotic translation initiation factor 4E							42.0	45.0	44.0					4																	99802265		2201	4300	6501	SO:0001583	missense	1977				G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr4:99802265G>A	M15353	CCDS34031.1, CCDS47109.1, CCDS54779.1	4q21-q25	2008-02-05			ENSG00000151247	ENSG00000151247			3287	protein-coding gene	gene with protein product		133440		EIF4EL1, EIF4F		9330633, 1916814	Standard	NM_001968		Approved	EIF4E1	uc011cea.1	P06730	OTTHUMG00000161090	ENST00000450253.2:c.568C>T	4.37:g.99802265G>A	ENSP00000389624:p.Pro190Ser					EIF4E_uc011cea.1_Missense_Mutation_p.P210S|EIF4E_uc011ceb.1_Missense_Mutation_p.P221S	p.P190S	NM_001968	NP_001959	P06730	IF4E_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)	7	2091	-			190					B7Z6V1|D6RCQ6|Q96E95	Missense_Mutation	SNP	ENST00000450253.2	37	c.568C>T	CCDS34031.1	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907198	0.17833	.	.	ENSG00000151247	ENST00000450253;ENST00000280892;ENST00000504432;ENST00000505992	T;T;T;T	0.46819	0.86;0.86;0.86;0.9	5.81	5.81	0.92471	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.43545	0.1252	L	0.31157	0.91	0.80722	D	1	B;B;B	0.17667	0.017;0.023;0.008	B;B;B	0.30401	0.061;0.115;0.039	T	0.19031	-1.0318	10	0.23891	T	0.37	-27.4488	20.0694	0.97716	0.0:0.0:1.0:0.0	.	221;210;190	P06730-2;B7Z6V1;P06730	.;.;IF4E_HUMAN	S	190;210;218;221	ENSP00000389624:P190S;ENSP00000280892:P210S;ENSP00000423977:P218S;ENSP00000425561:P221S	ENSP00000280892:P210S	P	-	1	0	EIF4E	100021288	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.146000	0.94640	2.761000	0.94854	0.585000	0.79938	CCT		0.358	EIF4E-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000363739.1	NM_001968		18	46	0	0	0	0.004656	0	18	46				
LARP1B	55132	broad.mit.edu	37	4	129043234	129043234	+	Missense_Mutation	SNP	C	C	G	rs530543535		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:129043234C>G	ENST00000326639.6	+	11	1626	c.1415C>G	c.(1414-1416)tCt>tGt	p.S472C	LARP1B_ENST00000441387.1_Missense_Mutation_p.S472C|LARP1B_ENST00000427266.1_Missense_Mutation_p.S472C|LARP1B_ENST00000512292.1_Missense_Mutation_p.S472C|LARP1B_ENST00000264584.5_Missense_Mutation_p.S425C|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	472						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S472C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						ACCCACATGTCTCGGGCAAAA	0.378																																							uc003iga.2		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1414-1416)TCT>TGT		La ribonucleoprotein domain family member 2							113.0	105.0	108.0					4																	129043234		2203	4300	6503	SO:0001583	missense	55132						RNA binding	g.chr4:129043234C>G		CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1415C>G	4.37:g.129043234C>G	ENSP00000321997:p.Ser472Cys					LARP1B_uc003igc.2_5'UTR|LARP1B_uc003ifz.1_Missense_Mutation_p.S472C|LARP1B_uc003igb.1_Missense_Mutation_p.S187C	p.S472C	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN			11	1546	+			472					Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	c.1415C>G	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	C	15.48	2.846330	0.51164	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.38887	1.59;1.12;1.11;1.62;1.56;1.12	5.27	4.43	0.53597	.	0.181563	0.49916	D	0.000134	T	0.38852	0.1056	L	0.55481	1.735	0.80722	D	1	P;B;B	0.37525	0.598;0.343;0.021	B;B;B	0.37888	0.26;0.216;0.016	T	0.31530	-0.9940	10	0.51188	T	0.08	.	10.7084	0.45969	0.0:0.7843:0.1413:0.0744	.	425;472;472	D6RJB0;Q659C4;G3XAJ5	.;LAR1B_HUMAN;.	C	472;472;425;425;472;472	ENSP00000321997:S472C;ENSP00000422850:S472C;ENSP00000427281:S425C;ENSP00000264584:S425C;ENSP00000396521:S472C;ENSP00000403586:S472C	ENSP00000264584:S425C	S	+	2	0	LARP1B	129262684	0.999000	0.42202	0.645000	0.29479	0.542000	0.35054	3.847000	0.55895	1.463000	0.47967	-0.142000	0.14014	TCT		0.378	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078		24	143	0	0	0	0.003954	0	24	143				
MAB21L2	10586	broad.mit.edu	37	4	151504477	151504477	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr4:151504477T>C	ENST00000317605.4	+	1	1401	c.296T>C	c.(295-297)gTg>gCg	p.V99A	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	99					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.V99A(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCTGCGCAGTGCTCAAACTG	0.597																																							uc003ilw.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)GTG>GCG		mab-21-like protein 2							85.0	79.0	81.0					4																	151504477		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151504477T>C	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.296T>C	4.37:g.151504477T>C	ENSP00000324701:p.Val99Ala					LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron	p.V99A	NM_006439	NP_006430	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1401	+	all_hematologic(180;0.151)		99					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.296T>C	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.436297	0.83885	.	.	ENSG00000181541	ENST00000317605	T	0.08546	3.08	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.26048	0.0635	M	0.74258	2.255	0.80722	D	1	D	0.59767	0.986	P	0.60117	0.869	T	0.00710	-1.1599	10	0.35671	T	0.21	-18.4146	16.3483	0.83171	0.0:0.0:0.0:1.0	.	99	Q9Y586	MB212_HUMAN	A	99	ENSP00000324701:V99A	ENSP00000324701:V99A	V	+	2	0	MAB21L2	151723927	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	8.040000	0.89188	2.254000	0.74563	0.533000	0.62120	GTG		0.597	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		18	76	0	0	0	0.007413	0	18	76				
FBXL7	23194	broad.mit.edu	37	5	15928027	15928027	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:15928027C>A	ENST00000504595.1	+	3	637	c.156C>A	c.(154-156)agC>agA	p.S52R	FBXL7_ENST00000510662.1_Missense_Mutation_p.S5R|FBXL7_ENST00000329673.7_Missense_Mutation_p.S40R	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	52					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.S52R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						GCACACTGAGCACGCCCAGCC	0.587																																							uc003jfn.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(154-156)AGC>AGA		F-box and leucine-rich repeat protein 7							88.0	98.0	95.0					5																	15928027		2090	4215	6305	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928027C>A	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.156C>A	5.37:g.15928027C>A	ENSP00000423630:p.Ser52Arg						p.S52R	NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN			3	637	+			52					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.156C>A	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911692	0.72983	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.10960	2.88;2.82;2.89	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.16599	0.0399	N	0.24115	0.695	0.58432	D	0.999999	D	0.65815	0.995	D	0.70487	0.969	T	0.12116	-1.0560	10	0.13470	T	0.59	.	12.5792	0.56381	0.0:0.924:0.0:0.076	.	52	Q9UJT9	FBXL7_HUMAN	R	52;5;40	ENSP00000423630:S52R;ENSP00000425184:S5R;ENSP00000329632:S40R	ENSP00000329632:S40R	S	+	3	2	FBXL7	15981027	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.624000	0.54231	2.571000	0.86741	0.563000	0.77884	AGC		0.587	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		25	95	1	0	2.41591e-17	0.004656	9.53649e-17	25	95				
ADAMTS12	81792	broad.mit.edu	37	5	33616058	33616058	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:33616058C>A	ENST00000504830.1	-	15	2598	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G670*|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	755	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G755*(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ATAAACCCTCCATTCAGGTAA	0.468										HNSCC(64;0.19)																													uc003jia.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(2263-2265)GGA>TGA		ADAM metallopeptidase with thrombospondin type 1							128.0	123.0	125.0					5																	33616058		2203	4300	6503	SO:0001587	stop_gained	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33616058C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2263G>T	5.37:g.33616058C>A	ENSP00000422554:p.Gly755*	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Nonsense_Mutation_p.G670*	p.G755*	NM_030955	NP_112217	P58397	ATS12_HUMAN			15	2426	-			755			Spacer 1.		A2RRN9|A5D6V6|Q6UWL3	Nonsense_Mutation	SNP	ENST00000504830.1	37	c.2263G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	44	11.135179	0.99521	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	.	.	.	5.51	5.51	0.81932	.	0.049130	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.015	0.92890	0.0:1.0:0.0:0.0	.	.	.	.	X	755;670	.	ENSP00000344847:G670X	G	-	1	0	ADAMTS12	33651815	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	7.741000	0.84997	2.558000	0.86282	0.561000	0.74099	GGA		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		69	125	1	0	1.07363e-35	0.00361	4.8073e-35	69	125				
OXCT1	5019	broad.mit.edu	37	5	41805723	41805723	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:41805723C>A	ENST00000196371.5	-	9	1061	c.901G>T	c.(901-903)Gta>Tta	p.V301L	OXCT1_ENST00000509987.1_Missense_Mutation_p.V115L	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	301					adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cellular response to acid chemical (GO:0071229)|cellular response to glucose stimulus (GO:0071333)|heart development (GO:0007507)|ketone body catabolic process (GO:0046952)|ketone catabolic process (GO:0042182)|positive regulation of insulin secretion (GO:0032024)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hormone (GO:0009725)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-oxoacid CoA-transferase activity (GO:0008260)|protein homodimerization activity (GO:0042803)	p.V301L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	CGTTCCCTTACGTCATCTCCA	0.438																																							uc003jmn.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(901-903)GTA>TTA		3-oxoacid CoA transferase 1 precursor	Succinic acid(DB00139)						144.0	142.0	143.0					5																	41805723		2203	4300	6503	SO:0001583	missense	5019				cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity	g.chr5:41805723C>A	U62961	CCDS3937.1	5p13	2008-02-05		2004-05-12	ENSG00000083720	ENSG00000083720			8527	protein-coding gene	gene with protein product		601424	"""3-oxoacid CoA transferase"""	OXCT		8751852	Standard	NM_000436		Approved	SCOT	uc003jmn.3	P55809	OTTHUMG00000094783	ENST00000196371.5:c.901G>T	5.37:g.41805723C>A	ENSP00000196371:p.Val301Leu						p.V301L	NM_000436	NP_000427	P55809	SCOT1_HUMAN			9	1232	-			301					B2R5V2|B7Z528	Missense_Mutation	SNP	ENST00000196371.5	37	c.901G>T	CCDS3937.1	.	.	.	.	.	.	.	.	.	.	C	7.893	0.732815	0.15507	.	.	ENSG00000083720	ENST00000196371;ENST00000509987	D;D	0.92446	-3.04;-3.04	5.65	2.67	0.31697	.	0.482223	0.22655	N	0.057267	D	0.84197	0.5419	L	0.28400	0.85	0.23809	N	0.996786	B	0.02656	0.0	B	0.01281	0.0	T	0.69083	-0.5239	10	0.25751	T	0.34	-9.5043	7.4979	0.27500	0.0:0.6996:0.1325:0.1679	.	301	P55809	SCOT1_HUMAN	L	301;115	ENSP00000196371:V301L;ENSP00000425348:V115L	ENSP00000196371:V301L	V	-	1	0	OXCT1	41841480	0.857000	0.29778	0.001000	0.08648	0.540000	0.34992	2.132000	0.42083	0.313000	0.23062	-0.145000	0.13849	GTA		0.438	OXCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211594.2	NM_000436		53	110	1	0	1.74971e-23	0.00361	7.29046e-23	53	110				
TRIM23	373	broad.mit.edu	37	5	64890374	64890374	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:64890374G>C	ENST00000231524.9	-	10	1890	c.1519C>G	c.(1519-1521)Ctg>Gtg	p.L507V	TRIM23_ENST00000381018.3_Missense_Mutation_p.L507V|TRIM23_ENST00000274327.7_Missense_Mutation_p.L507V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	507	ARF-like.				GTP catabolic process (GO:0006184)|positive regulation of catalytic activity (GO:0043085)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L507V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATCAGGAGCAGAGCATCTCGG	0.358																																							uc003jty.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(1519-1521)CTG>GTG		ADP-ribosylation factor domain protein 1 isoform							133.0	132.0	132.0					5																	64890374		2202	4300	6502	SO:0001583	missense	373				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:64890374G>C	L04510	CCDS3986.1, CCDS3987.1, CCDS43322.1	5q12.3	2013-01-09	2011-01-25	2004-06-04	ENSG00000113595	ENSG00000113595		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	660	protein-coding gene	gene with protein product		601747	"""ADP-ribosylation factor domain protein 1, 64kDa"", ""tripartite motif-containing 23"""	ARFD1		8473324	Standard	NM_001656		Approved	ARD1, RNF46	uc003jty.3	P36406	OTTHUMG00000097802	ENST00000231524.9:c.1519C>G	5.37:g.64890374G>C	ENSP00000231524:p.Leu507Val					TRIM23_uc003jtw.2_Missense_Mutation_p.L507V|TRIM23_uc003jtx.2_Missense_Mutation_p.L507V	p.L507V	NM_001656	NP_001647	P36406	TRI23_HUMAN		Lung(70;0.00473)	10	1605	-		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)	507			ARF-like.		Q9BZY4|Q9BZY5	Missense_Mutation	SNP	ENST00000231524.9	37	c.1519C>G	CCDS3987.1	.	.	.	.	.	.	.	.	.	.	G	6.533	0.466575	0.12402	.	.	ENSG00000113595	ENST00000231524;ENST00000381018;ENST00000274327	D;D;D	0.81821	-1.54;-1.54;-1.54	5.64	3.27	0.37495	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	N	0.04018	-0.295	0.52501	D	0.999956	B;P;B	0.35793	0.241;0.521;0.001	B;B;B	0.40602	0.334;0.111;0.005	T	0.50440	-0.8828	10	0.17369	T	0.5	.	8.113	0.30926	0.6939:0.0:0.3061:0.0	.	507;507;507	P36406;P36406-2;P36406-3	TRI23_HUMAN;.;.	V	507	ENSP00000231524:L507V;ENSP00000370406:L507V;ENSP00000274327:L507V	ENSP00000231524:L507V	L	-	1	2	TRIM23	64926130	0.952000	0.32445	1.000000	0.80357	0.993000	0.82548	1.042000	0.30303	0.419000	0.25927	-0.469000	0.05056	CTG		0.358	TRIM23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215058.2	NM_001656		57	100	0	0	0	0.00361	0	57	100				
CARTPT	9607	broad.mit.edu	37	5	71016433	71016433	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:71016433G>C	ENST00000296777.4	+	3	473	c.342G>C	c.(340-342)aaG>aaC	p.K114N	CARTPT_ENST00000513096.1_3'UTR	NM_004291.3	NP_004282.1	Q16568	CART_HUMAN	CART prepropeptide	114					activation of MAPKK activity (GO:0000186)|adult feeding behavior (GO:0008343)|cell-cell signaling (GO:0007267)|cellular glucose homeostasis (GO:0001678)|cellular response to starvation (GO:0009267)|circadian regulation of gene expression (GO:0032922)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of appetite (GO:0032099)|negative regulation of bone resorption (GO:0045779)|negative regulation of glucagon secretion (GO:0070093)|negative regulation of osteoclast differentiation (GO:0045671)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of epinephrine secretion (GO:0032812)|positive regulation of transmission of nerve impulse (GO:0051971)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|somatostatin secretion (GO:0070253)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|secretory granule (GO:0030141)		p.K114N(1)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TCCTCCTGAAGTGCTTATGAA	0.557																																							uc003kbv.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(340-342)AAG>AAC		cocaine- and amphetamine-regulated transcript	Amphetamine(DB00182)						141.0	110.0	121.0					5																	71016433		2203	4300	6503	SO:0001583	missense	9607				activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space		g.chr5:71016433G>C	U16826	CCDS4011.1	5q13.2	2008-02-05			ENSG00000164326	ENSG00000164326			24323	protein-coding gene	gene with protein product	"""cocaine and amphetamine regulated transcript"""	602606				9590691, 8647455	Standard	NM_004291		Approved	CART	uc003kbv.2	Q16568	OTTHUMG00000131261	ENST00000296777.4:c.342G>C	5.37:g.71016433G>C	ENSP00000296777:p.Lys114Asn						p.K114N	NM_004291	NP_004282	Q16568	CART_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	3	469	+		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)	114					Q6FG92	Missense_Mutation	SNP	ENST00000296777.4	37	c.342G>C	CCDS4011.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612731	0.66672	.	.	ENSG00000164326	ENST00000296777	T	0.62364	0.03	5.61	3.84	0.44239	.	0.000000	0.85682	D	0.000000	T	0.72095	0.3418	L	0.52905	1.665	0.58432	D	0.999993	D	0.76494	0.999	D	0.87578	0.998	T	0.72154	-0.4376	10	0.87932	D	0	.	9.3182	0.37948	0.2329:0.0:0.7671:0.0	.	114	Q16568	CART_HUMAN	N	114	ENSP00000296777:K114N	ENSP00000296777:K114N	K	+	3	2	CARTPT	71052189	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.855000	0.48333	0.740000	0.32651	0.655000	0.94253	AAG		0.557	CARTPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254029.2	NM_004291		7	14	0	0	0	0.00308	0	7	14				
CAMK4	814	broad.mit.edu	37	5	110814095	110814095	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:110814095C>G	ENST00000282356.4	+	9	1116	c.718C>G	c.(718-720)Cca>Gca	p.P240A	CAMK4_ENST00000512453.1_Missense_Mutation_p.P240A	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.P240A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGGATTTGAACCATTCTATGA	0.343																																							uc011cvj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)	5						c.(718-720)CCA>GCA		calcium/calmodulin-dependent protein kinase IV							96.0	103.0	100.0					5																	110814095		2202	4300	6502	SO:0001583	missense	814				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr5:110814095C>G	D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.718C>G	5.37:g.110814095C>G	ENSP00000282356:p.Pro240Ala					CAMK4_uc003kpf.2_Missense_Mutation_p.P240A|CAMK4_uc010jbv.2_Missense_Mutation_p.P43A	p.P240A	NM_001744	NP_001735	Q16566	KCC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)	10	817	+		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)	240			Protein kinase.		D3DSZ7	Missense_Mutation	SNP	ENST00000282356.4	37	c.718C>G	CCDS4103.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.758018	0.89843	.	.	ENSG00000152495	ENST00000512453;ENST00000282356	T;T	0.62105	0.05;0.05	5.9	5.9	0.94986	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86363	0.1718	10	0.87932	D	0	.	20.2704	0.98474	0.0:1.0:0.0:0.0	.	240	Q16566	KCC4_HUMAN	A	240	ENSP00000422634:P240A;ENSP00000282356:P240A	ENSP00000282356:P240A	P	+	1	0	CAMK4	110841994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.793000	0.96121	0.591000	0.81541	CCA		0.343	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250719.2	NM_001744		10	195	0	0	0	0.001368	0	10	195				
DTWD2	285605	broad.mit.edu	37	5	118183901	118183901	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:118183901T>C	ENST00000510708.1	-	5	643	c.610A>G	c.(610-612)Act>Gct	p.T204A	DTWD2_ENST00000515439.3_Missense_Mutation_p.T108A|DTWD2_ENST00000304058.4_Missense_Mutation_p.T138A	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	204								p.T204A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		GAAATGCTAGTTTTTAATTGC	0.308																																							uc003ksa.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(610-612)ACT>GCT		DTW domain containing 2							50.0	48.0	49.0					5																	118183901		2202	4299	6501	SO:0001583	missense	285605							g.chr5:118183901T>C		CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.610A>G	5.37:g.118183901T>C	ENSP00000425048:p.Thr204Ala						p.T204A	NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)	5	644	-		all_epithelial(76;0.0982)|Prostate(80;0.121)	204						Missense_Mutation	SNP	ENST00000510708.1	37	c.610A>G	CCDS34216.1	.	.	.	.	.	.	.	.	.	.	T	8.611	0.889129	0.17540	.	.	ENSG00000169570	ENST00000304058;ENST00000510708;ENST00000515439	.	.	.	5.36	5.36	0.76844	DTW (1);	0.111627	0.64402	D	0.000009	T	0.38532	0.1044	N	0.12961	0.28	0.41967	D	0.990731	B	0.22909	0.077	B	0.25759	0.063	T	0.28681	-1.0036	9	0.06625	T	0.88	-33.2785	15.0251	0.71663	0.0:0.0:0.0:1.0	.	204	Q8NBA8	DTWD2_HUMAN	A	138;204;108	.	ENSP00000302892:T138A	T	-	1	0	DTWD2	118211800	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.085000	0.50151	2.032000	0.59987	0.374000	0.22700	ACT		0.308	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666		11	59	0	0	0	0.00245	0	11	59				
PCDHA6	56142	broad.mit.edu	37	5	140207997	140207997	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:140207997G>T	ENST00000529310.1	+	1	435	c.321G>T	c.(319-321)gaG>gaT	p.E107D	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E107D	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	107	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)	calcium ion binding (GO:0005509)	p.E107D(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCACCTGGAGGTGATCGTGG	0.567																																							uc003lho.2		NA																	2	Substitution - Missense(2)		lung(2)	haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(319-321)GAG>GAT		protocadherin alpha 6 isoform 1 precursor							111.0	123.0	119.0					5																	140207997		2203	4297	6500	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207997G>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.321G>T	5.37:g.140207997G>T	ENSP00000433378:p.Glu107Asp					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Missense_Mutation_p.E107D|PCDHA6_uc011dab.1_Missense_Mutation_p.E107D	p.E107D	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	348	+			107			Cadherin 1.|Extracellular (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.321G>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.868421	0.51588	.	.	ENSG00000081842	ENST00000529310;ENST00000527624	T;T	0.31247	1.5;1.5	3.87	3.87	0.44632	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.37053	U	0.002270	T	0.51568	0.1682	M	0.76938	2.355	0.27714	N	0.94536	D;D;D	0.63046	0.979;0.959;0.992	P;P;D	0.67548	0.735;0.655;0.952	T	0.45440	-0.9261	10	0.72032	D	0.01	.	10.1128	0.42572	0.0943:0.0:0.9057:0.0	.	107;107;107	Q9UN73-3;Q9UN73;Q9UN73-2	.;PCDA6_HUMAN;.	D	107	ENSP00000433378:E107D;ENSP00000434113:E107D	ENSP00000434113:E107D	E	+	3	2	PCDHA6	140188181	0.996000	0.38824	1.000000	0.80357	0.913000	0.54294	2.451000	0.44952	2.139000	0.66308	0.313000	0.20887	GAG		0.567	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		94	159	1	0	1.6041e-38	0.00361	7.29135e-38	94	159				
GABRA6	2559	broad.mit.edu	37	5	161112996	161112996	+	Start_Codon_SNP	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr5:161112996A>G	ENST00000274545.5	+	1	434	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Start_Codon_SNP_p.M1V|GABRA6_ENST00000522269.1_Intron			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	1					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.M1V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCACTGCAGGATGGCGTCGTC	0.463										TCGA Ovarian(5;0.080)																													uc003lyu.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1-3)ATG>GTG		gamma-aminobutyric acid A receptor, alpha 6	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						158.0	135.0	143.0					5																	161112996		2203	4300	6503	SO:0001582	initiator_codon_variant	2559				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	g.chr5:161112996A>G		CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.1A>G	5.37:g.161112996A>G	ENSP00000274545:p.Met1Val	TCGA Ovarian(5;0.080)					p.M1V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	339	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	1					A8K096|Q4VAV2	Missense_Mutation	SNP	ENST00000274545.5	37	c.1A>G	CCDS4356.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.708334	0.30322	.	.	ENSG00000145863	ENST00000274545;ENST00000523217	T;T	0.79247	-1.25;-0.53	5.63	5.63	0.86233	.	0.492930	0.21382	N	0.075441	T	0.73249	0.3563	.	.	.	0.80722	D	1	B	0.26081	0.141	B	0.20767	0.031	T	0.71988	-0.4426	9	0.72032	D	0.01	.	15.87	0.79108	1.0:0.0:0.0:0.0	.	1	Q16445	GBRA6_HUMAN	V	1	ENSP00000274545:M1V;ENSP00000430527:M1V	ENSP00000274545:M1V	M	+	1	0	GABRA6	161045574	1.000000	0.71417	0.955000	0.39395	0.116000	0.19942	5.039000	0.64185	2.145000	0.66743	0.533000	0.62120	ATG		0.463	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252707.2		Missense_Mutation	11	125	0	0	0	0.001368	0	11	125				
SMAP1	60682	broad.mit.edu	37	6	71566660	71566660	+	Silent	SNP	A	A	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:71566660A>C	ENST00000370455.3	+	9	1136	c.888A>C	c.(886-888)gcA>gcC	p.A296A	SMAP1_ENST00000316999.5_Silent_p.A269A|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000370452.3_Silent_p.A269A	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	296					positive regulation of erythrocyte differentiation (GO:0045648)|regulation of ARF GTPase activity (GO:0032312)|regulation of clathrin-mediated endocytosis (GO:2000369)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.A269A(1)|p.A296A(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						AAGAAGTGGCAAAGAAACAAC	0.428																																							uc003pfr.2		NA																	2	Substitution - coding silent(2)		lung(2)		0						c.(886-888)GCA>GCC		stromal membrane-associated GTPase-activating							107.0	103.0	104.0					6																	71566660		2203	4300	6503	SO:0001819	synonymous_variant	60682				regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	g.chr6:71566660A>C	AK023221	CCDS4973.1, CCDS43478.1, CCDS64459.1, CCDS75478.1	6q12-q13	2009-11-30	2008-09-05		ENSG00000112305	ENSG00000112305		"""ADP-ribosylation factor GTPase activating proteins"""	19651	protein-coding gene	gene with protein product		611372	"""stromal membrane-associated protein 1"", ""stromal membrane-associated GTPase-activating protein 1"""			9644265, 12119110	Standard	NM_001044305		Approved	FLJ13159, SMAP-1	uc003pfr.3	Q8IYB5	OTTHUMG00000014996	ENST00000370455.3:c.888A>C	6.37:g.71566660A>C						SMAP1_uc003pfs.2_Silent_p.A269A|SMAP1_uc010kao.2_Silent_p.A269A|SMAP1_uc010kap.2_Silent_p.A286A	p.A296A	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN			9	1136	+			296					Q53H70|Q5SYQ2|Q6PK24|Q8NDH4|Q96L38|Q96L39|Q9H8X4	Silent	SNP	ENST00000370455.3	37	c.888A>C	CCDS43478.1																																																																																				0.428	SMAP1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041149.1	NM_001044305		4	167	0	0	0	0.000602	0	4	167				
GPRC6A	222545	broad.mit.edu	37	6	117113394	117113394	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:117113394G>T	ENST00000310357.3	-	6	2713	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	GPRC6A_ENST00000368549.3_Missense_Mutation_p.L827I|GPRC6A_ENST00000530250.1_Missense_Mutation_p.L723I	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	898					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L898I(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TGTGCCTGAAGATCTTTGCTT	0.453																																							uc003pxj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2692-2694)CTT>ATT		G protein-coupled receptor, family C, group 6,							159.0	158.0	158.0					6																	117113394		2203	4300	6503	SO:0001583	missense	222545				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117113394G>T	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.2692C>A	6.37:g.117113394G>T	ENSP00000309493:p.Leu898Ile					GPRC6A_uc003pxk.1_Missense_Mutation_p.L723I|GPRC6A_uc003pxl.1_Missense_Mutation_p.L827I	p.L898I	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	6	2714	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	898			Cytoplasmic (Potential).		Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Missense_Mutation	SNP	ENST00000310357.3	37	c.2692C>A	CCDS5112.1	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974353	0.18736	.	.	ENSG00000173612	ENST00000310357;ENST00000368549;ENST00000530250	D;D;D	0.90732	-2.49;-2.72;-2.72	4.3	1.23	0.21249	.	0.532611	0.15943	N	0.237109	T	0.66944	0.2841	L	0.34521	1.04	0.09310	N	1	B;B;B	0.32160	0.358;0.0;0.02	B;B;B	0.29716	0.106;0.002;0.011	T	0.57254	-0.7843	10	0.35671	T	0.21	.	0.7705	0.01023	0.1573:0.1952:0.2508:0.3967	.	827;723;898	Q5T6X5-3;Q5T6X5-2;Q5T6X5	.;.;GPC6A_HUMAN	I	898;827;723	ENSP00000309493:L898I;ENSP00000357537:L827I;ENSP00000433465:L723I	ENSP00000309493:L898I	L	-	1	0	GPRC6A	117220087	0.000000	0.05858	0.002000	0.10522	0.025000	0.11179	-0.155000	0.10115	0.904000	0.36572	0.491000	0.48974	CTT		0.453	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2			8	222	1	0	2.17888e-05	0.006214	7.87546e-05	8	222				
TAAR8	83551	broad.mit.edu	37	6	132874425	132874425	+	Silent	SNP	G	G	T	rs571489659		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:132874425G>T	ENST00000275200.1	+	1	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	198					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)	p.V198V(1)		endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		AAGGCTGGGTGTTGATAGATT	0.358																																							uc011ecj.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(592-594)GTG>GTT		trace amine associated receptor 8							253.0	251.0	252.0					6																	132874425		2203	4300	6503	SO:0001819	synonymous_variant	83551					plasma membrane	G-protein coupled receptor activity	g.chr6:132874425G>T	AF380193	CCDS5154.1	6q23.2	2014-05-14	2005-02-23	2005-02-24	ENSG00000146385	ENSG00000146385		"""GPCR / Class A : Trace amine associated receptors"""	14964	protein-coding gene	gene with protein product		606927	"""trace amine receptor 5"""	GPR102, TRAR5		11574155, 15718104	Standard	NM_053278		Approved	TA5, TAR5	uc011ecj.2	Q969N4	OTTHUMG00000015586	ENST00000275200.1:c.594G>T	6.37:g.132874425G>T							p.V198V	NM_053278	NP_444508	Q969N4	TAAR8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)	1	594	+	Breast(56;0.112)		198			Helical; Name=5; (Potential).		Q5VUQ0	Silent	SNP	ENST00000275200.1	37	c.594G>T	CCDS5154.1																																																																																				0.358	TAAR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042262.1	NM_053278		24	93	1	0	6.21321e-17	0.00278	2.42073e-16	24	93				
PEX3	8504	broad.mit.edu	37	6	143792568	143792568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr6:143792568C>T	ENST00000367591.4	+	6	568	c.505C>T	c.(505-507)Cag>Tag	p.Q169*		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	169					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)	p.Q169*(1)		endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		ATCAAGTATTCAGCACCTACT	0.294																																							uc003qjl.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(505-507)CAG>TAG		peroxisomal biogenesis factor 3							101.0	104.0	103.0					6																	143792568		2203	4297	6500	SO:0001587	stop_gained	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143792568C>T	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.505C>T	6.37:g.143792568C>T	ENSP00000356563:p.Gln169*					PEX3_uc011edx.1_Nonsense_Mutation_p.Q169*	p.Q169*	NM_003630	NP_003621	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	6	767	+			169			Cytoplasmic (Potential).		Q6FGP5	Nonsense_Mutation	SNP	ENST00000367591.4	37	c.505C>T	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	37	6.079137	0.97262	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	.	.	.	5.54	5.54	0.83059	.	0.104261	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.1563	19.8426	0.96695	0.0:1.0:0.0:0.0	.	.	.	.	X	125;125;169	.	ENSP00000344195:Q125X	Q	+	1	0	PEX3	143834261	1.000000	0.71417	0.991000	0.47740	0.917000	0.54804	5.411000	0.66386	2.751000	0.94390	0.591000	0.81541	CAG		0.294	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			12	160	0	0	0	0.001855	0	12	160				
HECW1	23072	broad.mit.edu	37	7	43484237	43484237	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:43484237A>G	ENST00000395891.2	+	11	2071	c.1466A>G	c.(1465-1467)gAg>gGg	p.E489G	HECW1_ENST00000453890.1_Missense_Mutation_p.E489G	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.E489G(1)|p.E468G(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCTTGGAGGAGGAAGCAACG	0.637																																							uc003tid.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1465-1467)GAG>GGG		NEDD4-like ubiquitin-protein ligase 1							16.0	19.0	18.0					7																	43484237		2063	4199	6262	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484237A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1466A>G	7.37:g.43484237A>G	ENSP00000379228:p.Glu489Gly					HECW1_uc011kbi.1_Missense_Mutation_p.E489G	p.E489G	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2071	+			489			Glu-rich.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.1466A>G	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370920	0.24771	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.34667	1.38;1.35	4.89	0.668	0.17912	.	3.482350	0.00659	N	0.000594	T	0.29945	0.0749	L	0.39898	1.24	0.09310	N	1	B;B	0.17038	0.02;0.0	B;B	0.15870	0.014;0.0	T	0.15350	-1.0440	10	0.42905	T	0.14	.	3.6038	0.08035	0.5558:0.252:0.0707:0.1215	.	489;489	B4DH42;Q76N89	.;HECW1_HUMAN	G	489	ENSP00000379228:E489G;ENSP00000407774:E489G	ENSP00000265522:E489G	E	+	2	0	HECW1	43450762	0.157000	0.22836	0.001000	0.08648	0.071000	0.16799	1.449000	0.35123	0.257000	0.21650	0.459000	0.35465	GAG		0.637	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		12	13	0	0	0	0.001368	0	12	13				
EPHB6	2051	broad.mit.edu	37	7	142564781	142564781	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr7:142564781G>T	ENST00000392957.2	+	11	2492	c.1705G>T	c.(1705-1707)Ggc>Tgc	p.G569C	EPHB6_ENST00000411471.2_Missense_Mutation_p.G292C|EPHB6_ENST00000442129.1_Missense_Mutation_p.G569C	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	569	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.G554C(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCCGGCCACGGCCCCTACGG	0.627																																							uc011kst.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(1705-1707)GGC>TGC		ephrin receptor EphB6 precursor							48.0	48.0	48.0					7																	142564781		2203	4300	6503	SO:0001583	missense	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142564781G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1705G>T	7.37:g.142564781G>T	ENSP00000376684:p.Gly569Cys					EPHB6_uc011ksu.1_Missense_Mutation_p.G569C|EPHB6_uc003wbs.2_Missense_Mutation_p.G277C|EPHB6_uc003wbt.2_Missense_Mutation_p.G43C|EPHB6_uc003wbu.2_Missense_Mutation_p.G277C|EPHB6_uc003wbv.2_5'Flank	p.G569C	NM_004445	NP_004436	O15197	EPHB6_HUMAN			11	2492	+	Melanoma(164;0.059)		569			Fibronectin type-III 2.|Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	c.1705G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845151	0.91197	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.64085	-0.08;-0.08;-0.08	5.12	5.12	0.69794	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000154	D	0.86003	0.5829	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90725	0.4638	10	0.87932	D	0	.	17.5466	0.87864	0.0:0.0:1.0:0.0	.	569;292	O15197;O15197-2	EPHB6_HUMAN;.	C	569;569;292	ENSP00000376684:G569C;ENSP00000410789:G569C;ENSP00000409061:G292C	ENSP00000376684:G569C	G	+	1	0	EPHB6	142274903	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.858000	0.86971	2.368000	0.80403	0.555000	0.69702	GGC		0.627	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			11	49	1	0	4.36969e-10	0.001855	1.63863e-09	11	49				
FAM110B	90362	broad.mit.edu	37	8	59059695	59059695	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:59059695C>T	ENST00000361488.3	+	5	1786	c.906C>T	c.(904-906)gaC>gaT	p.D302D	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	302						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.D302D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CTAATTCTGACATAATATCCC	0.493																																							uc003xtj.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(904-906)GAC>GAT		hypothetical protein LOC90362							88.0	87.0	88.0					8																	59059695		2203	4300	6503	SO:0001819	synonymous_variant	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059695C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.906C>T	8.37:g.59059695C>T							p.D302D	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1786	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	302					Q5BM08|Q9Y4K2	Silent	SNP	ENST00000361488.3	37	c.906C>T	CCDS6170.1																																																																																				0.493	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2	NM_147189		7	127	0	0	0	0.001984	0	7	127				
ZFPM2	23414	broad.mit.edu	37	8	106813793	106813793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:106813793G>T	ENST00000407775.2	+	8	1733	c.1483G>T	c.(1483-1485)Ggc>Tgc	p.G495C	ZFPM2_ENST00000520492.1_Missense_Mutation_p.G363C|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G226C|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G363C|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	495					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G495C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTTCCCTGTGGGCCCTTTCCT	0.458																																							uc003ymd.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(1483-1485)GGC>TGC		zinc finger protein, multitype 2							121.0	123.0	122.0					8																	106813793		1889	4112	6001	SO:0001583	missense	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813793G>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1483G>T	8.37:g.106813793G>T	ENSP00000384179:p.Gly495Cys					ZFPM2_uc011lhs.1_Missense_Mutation_p.G226C	p.G495C	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1506	+			495					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	37	c.1483G>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153124	0.78001	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.29917	1.55;2.06;2.06;3.27	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.54549	0.1865	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.50906	-0.8772	10	0.72032	D	0.01	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	495	Q8WW38	FOG2_HUMAN	C	495;363;363;226	ENSP00000384179:G495C;ENSP00000430757:G363C;ENSP00000428720:G363C;ENSP00000367733:G226C	ENSP00000367733:G226C	G	+	1	0	ZFPM2	106882969	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.843000	0.99491	2.836000	0.97738	0.655000	0.94253	GGC		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			50	306	1	0	4.1673e-28	0.00361	1.78599e-27	50	306				
CSMD3	114788	broad.mit.edu	37	8	113649131	113649131	+	Silent	SNP	C	C	T			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:113649131C>T	ENST00000297405.5	-	22	3874	c.3630G>A	c.(3628-3630)tcG>tcA	p.S1210S	CSMD3_ENST00000343508.3_Silent_p.S1170S|CSMD3_ENST00000352409.3_Silent_p.S1210S|CSMD3_ENST00000455883.2_Silent_p.S1106S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1210	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S1210S(2)|p.S1170S(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCGATAACCCGAAGAGCATG	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																													uc003ynu.2		NA																	3	Substitution - coding silent(3)	p.S1210L(1)	lung(2)|large_intestine(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3628-3630)TCG>TCA		CUB and Sushi multiple domains 3 isoform 1							225.0	171.0	189.0					8																	113649131		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:113649131C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3630G>A	8.37:g.113649131C>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Silent_p.S482S|CSMD3_uc003ynt.2_Silent_p.S1170S|CSMD3_uc011lhx.1_Silent_p.S1106S	p.S1210S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			22	3789	-			1210			Sushi 6.|Extracellular (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.3630G>A	CCDS6315.1																																																																																				0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	223	0	0	0	0.005443	0	27	223				
TATDN1	83940	broad.mit.edu	37	8	125534428	125534428	+	Silent	SNP	A	A	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125534428A>G	ENST00000276692.6	-	3	139	c.102T>C	c.(100-102)gaT>gaC	p.D34D	TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000605953.1_Silent_p.D34D|TATDN1_ENST00000517678.1_Intron|TATDN1_ENST00000521546.1_5'UTR	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	34					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.D34D(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCCTATTACATCCTGTAAGT	0.279																																							uc003yrd.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(100-102)GAT>GAC		TatD DNase domain containing 1 isoform a							73.0	78.0	76.0					8																	125534428		2201	4295	6496	SO:0001819	synonymous_variant	83940					nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	g.chr8:125534428A>G	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.102T>C	8.37:g.125534428A>G						TATDN1_uc003yre.2_RNA|TATDN1_uc010mdm.2_Intron|TATDN1_uc003yrf.2_Silent_p.D34D	p.D34D	NM_032026	NP_114415	Q6P1N9	TATD1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	144	-	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		34					B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	c.102T>C	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	A	9.432	1.085721	0.20390	.	.	ENSG00000147687	ENST00000519232	.	.	.	5.55	3.15	0.36227	.	.	.	.	.	T	0.59542	0.2201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53563	-0.8421	4	.	.	.	.	10.088	0.42430	0.8631:0.0:0.1369:0.0	.	.	.	.	R	64	.	.	C	-	1	0	TATDN1	125603609	0.996000	0.38824	1.000000	0.80357	0.993000	0.82548	0.934000	0.28910	0.476000	0.27440	0.472000	0.43445	TGT		0.279	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		7	182	0	0	0	0.00308	0	7	182				
CNTLN	54875	broad.mit.edu	37	9	17298270	17298270	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:17298270C>G	ENST00000380647.3	+	7	1150	c.1066C>G	c.(1066-1068)Cag>Gag	p.Q356E	CNTLN_ENST00000262360.5_Missense_Mutation_p.Q356E|CNTLN_ENST00000425824.1_Missense_Mutation_p.Q356E|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q356E			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	356					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)	p.Q356E(1)		breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		CCAGCAGCTTCAGGTTCTCAA	0.403																																							uc003zmz.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1066-1068)CAG>GAG		centlein isoform 1							77.0	75.0	76.0					9																	17298270		1918	4140	6058	SO:0001583	missense	54875					centriole|membrane	two-component sensor activity	g.chr9:17298270C>G	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.1066C>G	9.37:g.17298270C>G	ENSP00000370021:p.Gln356Glu					CNTLN_uc003zmx.3_Missense_Mutation_p.Q356E|CNTLN_uc003zmy.2_Missense_Mutation_p.Q356E|CNTLN_uc010mio.2_Missense_Mutation_p.Q35E	p.Q356E	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	7	1092	+			356					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	ENST00000380647.3	37	c.1066C>G	CCDS43789.1	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155233	0.57259	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360;ENST00000380641	T;T;T;T	0.34667	2.59;2.59;1.35;2.59	5.72	5.72	0.89469	.	.	.	.	.	T	0.42223	0.1193	L	0.47190	1.495	0.35702	D	0.815716	P;B;B;D	0.55385	0.607;0.394;0.394;0.971	B;B;B;P	0.52386	0.146;0.12;0.12;0.697	T	0.32693	-0.9897	9	0.10377	T	0.69	.	16.8379	0.85961	0.0:0.8719:0.1281:0.0	.	356;356;356;356	Q9NXG0;C9J1F9;Q9NXG0-2;Q9NXG0-3	CNTLN_HUMAN;.;.;.	E	356	ENSP00000370021:Q356E;ENSP00000392798:Q356E;ENSP00000262360:Q356E;ENSP00000370015:Q356E	ENSP00000262360:Q356E	Q	+	1	0	CNTLN	17288270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.588000	0.60999	2.717000	0.92951	0.650000	0.86243	CAG		0.403	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		42	22	0	0	0	0.002522	0	42	22				
OR13F1	138805	broad.mit.edu	37	9	107266550	107266550	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:107266550C>A	ENST00000334726.2	+	1	96	c.7C>A	c.(7-9)Ccg>Acg	p.P3T		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P3T(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AAAAATGTTCCCGGCAAATTG	0.383																																							uc011lvm.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(7-9)CCG>ACG		olfactory receptor, family 13, subfamily F,							56.0	57.0	57.0					9																	107266550		2203	4300	6503	SO:0001583	missense	138805				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107266550C>A		CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.7C>A	9.37:g.107266550C>A	ENSP00000334452:p.Pro3Thr						p.P3T	NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN			1	7	+			3			Extracellular (Potential).		Q6IF50	Missense_Mutation	SNP	ENST00000334726.2	37	c.7C>A	CCDS35087.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.762274	0.00651	.	.	ENSG00000186881	ENST00000334726	T	0.00449	7.37	3.91	2.98	0.34508	.	1.881530	0.02845	N	0.128415	T	0.00241	0.0007	N	0.05351	-0.065	0.09310	N	1	B	0.12013	0.005	B	0.12837	0.008	T	0.36335	-0.9752	10	0.16896	T	0.51	.	6.9037	0.24297	0.2011:0.6041:0.1949:0.0	.	3	Q8NGS4	O13F1_HUMAN	T	3	ENSP00000334452:P3T	ENSP00000334452:P3T	P	+	1	0	OR13F1	106306371	0.000000	0.05858	0.006000	0.13384	0.019000	0.09904	-0.155000	0.10115	1.181000	0.42912	0.650000	0.86243	CCG		0.383	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053475.1			33	48	1	0	1.04352e-10	0.003755	3.96272e-10	33	48				
NUP214	8021	broad.mit.edu	37	9	134015959	134015959	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr9:134015959G>C	ENST00000359428.5	+	11	1300	c.1156G>C	c.(1156-1158)Gct>Cct	p.A386P	RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.A386P|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A386P			P35658	NU214_HUMAN	nucleoporin 214kDa	386	Seven-bladed beta propeller.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|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)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)	p.A386P(1)		NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TCTTCCTCCTGCTCCAGTTCT	0.393			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)	Pancreas(4;24 48 25510 30394 32571)	uc004cag.2		NA		Dom	yes		9	9q34.1	8021	T	nucleoporin 214kDa (CAN)			L	DEK|SET|ABL1		AML|T-ALL		1	Substitution - Missense(1)		lung(1)	breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1)	16						c.(1156-1158)GCT>CCT		nucleoporin 214kDa							129.0	131.0	130.0					9																	134015959		2203	4300	6503	SO:0001583	missense	8021				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding	g.chr9:134015959G>C	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.1156G>C	9.37:g.134015959G>C	ENSP00000352400:p.Ala386Pro					NUP214_uc004cah.2_Missense_Mutation_p.A386P|NUP214_uc004caf.1_Missense_Mutation_p.A386P	p.A386P	NM_005085	NP_005076	P35658	NU214_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)	11	1267	+	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	386					A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	c.1156G>C	CCDS6940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.269863|4.269863	0.80469|0.80469	.|.	.|.	ENSG00000126883|ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375|ENST00000530863	D;D;D|.	0.94723|.	-3.5;-3.5;-3.5|.	5.76|5.76	4.86|4.86	0.63082|0.63082	WD40/YVTN repeat-like-containing domain (1);|.	0.174845|.	0.27262|.	N|.	0.020163|.	T|T	0.68320|0.68320	0.2988|0.2988	L|L	0.50333|0.50333	1.59|1.59	0.45087|0.45087	D|D	0.998106|0.998106	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.80764|.	0.994;0.994|.	T|T	0.64076|0.64076	-0.6492|-0.6492	10|5	0.51188|.	T|.	0.08|.	-25.847|-25.847	17.0266|17.0266	0.86448|0.86448	0.0676:0.0:0.9324:0.0|0.0676:0.0:0.9324:0.0	.|.	386;386|.	P35658-4;P35658|.	.;NU214_HUMAN|.	P|S	386|57	ENSP00000352400:A386P;ENSP00000396576:A386P;ENSP00000405014:A386P|.	ENSP00000352400:A386P|.	A|C	+|+	1|2	0|0	NUP214|NUP214	133005780|133005780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	5.337000|5.337000	0.65941|0.65941	0.805000|0.805000	0.34159|0.34159	-0.797000|-0.797000	0.03246|0.03246	GCT|TGC		0.393	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085		11	164	0	0	0	0.001855	0	11	164				
TAZ	6901	broad.mit.edu	37	X	153648424	153648424	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chrX:153648424T>C	ENST00000350743.4	+	7	836	c.547T>C	c.(547-549)Tgg>Cgg	p.W183R	TAZ_ENST00000369776.4_Missense_Mutation_p.W144R|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369790.4_Missense_Mutation_p.W169R|TAZ_ENST00000299328.5_Missense_Mutation_p.W213R|TAZ_ENST00000351413.4_Missense_Mutation_p.W199R|TAZ_ENST00000475699.1_Missense_Mutation_p.W186R	NM_181311.2	NP_851828.1	Q9GZV5	WWTR1_HUMAN	tafazzin	0					cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.W213R(1)		lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					CCTGCCCCTGTGGCATGTCGG	0.642																																							uc004fkx.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(637-639)TGG>CGG		tafazzin isoform 1							102.0	95.0	97.0					X																	153648424		2203	4300	6503	SO:0001583	missense	6901				cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity	g.chrX:153648424T>C	X92762	CCDS14748.1, CCDS14749.1, CCDS14750.1, CCDS35450.1	Xq28	2014-09-17	2008-07-29		ENSG00000102125	ENSG00000102125			11577	protein-coding gene	gene with protein product	"""Barth syndrome"""	300394	"""endocardial fibroelastosis 2"", ""cardiomyopathy, dilated 3A (X-linked)"""	CMD3A, EFE2, EFE		8042670	Standard	NM_000116		Approved	BTHS, XAP-2, G4.5	uc004fkx.3	Q16635	OTTHUMG00000033190	ENST00000350743.4:c.547T>C	X.37:g.153648424T>C	ENSP00000338891:p.Trp183Arg					TAZ_uc004fky.2_Missense_Mutation_p.W199R|TAZ_uc004fkz.2_RNA|TAZ_uc004fla.2_Missense_Mutation_p.W183R|TAZ_uc004flb.2_Missense_Mutation_p.W169R|TAZ_uc010nuy.2_Missense_Mutation_p.W217R|TAZ_uc004flc.3_Missense_Mutation_p.W144R	p.W213R	NM_000116	NP_000107	Q16635	TAZ_HUMAN			8	941	+	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)		213					D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000350743.4	37	c.637T>C	CCDS14749.1	.	.	.	.	.	.	.	.	.	.	T	19.76	3.887679	0.72410	.	.	ENSG00000102125	ENST00000369790;ENST00000299328;ENST00000350743;ENST00000351413;ENST00000369776;ENST00000439735;ENST00000475699	D;D;D;D;D;D;D	0.98822	-3.17;-3.17;-3.17;-3.17;-5.16;-3.17;-3.17	5.3	4.12	0.48240	Phospholipid/glycerol acyltransferase (2);	0.068735	0.64402	D	0.000005	D	0.99105	0.9692	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.994;0.997;0.967;0.966;0.981;0.985	D	0.99236	1.0883	10	0.87932	D	0	-4.4798	9.7802	0.40643	0.0:0.0:0.1712:0.8288	.	217;144;169;183;199;213	A6XNE1;Q96F92;Q16635-7;Q16635-3;Q16635-5;Q16635	.;.;.;.;.;TAZ_HUMAN	R	169;213;183;199;144;182;186	ENSP00000358805:W169R;ENSP00000299328:W213R;ENSP00000338891:W183R;ENSP00000218246:W199R;ENSP00000358791:W144R;ENSP00000398193:W182R;ENSP00000419854:W186R	ENSP00000299328:W213R	W	+	1	0	TAZ	153301618	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.544000	0.82117	0.664000	0.31047	0.427000	0.28365	TGG		0.642	TAZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080939.1			7	115	0	0	0	0.00308	0	7	115				
TATDN1	83940	broad.mit.edu	37	8	125499067	125499084	+	IGR	DEL	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	-	rs142948801|rs376817114		TCGA-49-4510-01A-01D-1265-08	TCGA-49-4510-11A-01D-1265-08	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	-	-	CTGTTTGTCTCTGCTTGC	CTGTTTGTCTCTGCTTGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2c12bff-addd-45a2-ada4-c30ac935809c	19c2a338-ad3e-4fa9-be1f-2babcbf08ddb	g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC	ENST00000276692.6	-	0	1018				RP11-158K1.3_ENST00000518639.1_RNA|RNF139_ENST00000303545.3_In_Frame_Del_p.LFVSAC393del	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTTCCTGTGCTGTTTGTCTCTGCTTGCCTGTTTATTC	0.404																																							uc003yrc.2		NA																	0				kidney(1)	1						c.(1177-1194)CTGTTTGTCTCTGCTTGCdel		ring finger protein 139																																				SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125499067_125499084delCTGTTTGTCTCTGCTTGC							p.LFVSAC393del	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1520_1537	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		393_398			Helical; (Potential).		B2R5J0|Q8TD02|Q9BY40	In_Frame_Del	DEL	ENST00000276692.6	37	c.1177_1194delCTGTTTGTCTCTGCTTGC	CCDS6351.1																																																																																				0.404	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		219	576	NA	NA	NA	NA	NA	219	576	---	---	---	---
