#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF11	440560	broad.mit.edu	37	1	12887574	12887574	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:12887574C>G	ENST00000535591.1	-	3	478	c.283G>C	c.(283-285)Gtg>Ctg	p.V95L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	95					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAGTCCTGCACTGGTGTTTTG	0.498																																						uc001auk.2		NA																	0					0						c.(283-285)GTG>CTG		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887574C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.283G>C	1.37:g.12887574C>G	ENSP00000439551:p.Val95Leu						p.V95L	NM_001146344	NP_001139816	O60813	PRA11_HUMAN			3	479	-			95						Missense_Mutation	SNP	ENST00000535591.1	37	c.283G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	4.005	-0.001716	0.07819	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.04551	3.6;3.6	1.48	-2.96	0.05547	.	4.770550	0.00810	N	0.001497	T	0.08223	0.0205	M	0.69185	2.1	0.09310	N	1	P	0.34615	0.459	B	0.36464	0.225	T	0.22626	-1.0211	10	0.37606	T	0.19	.	6.4748	0.22028	0.1619:0.2397:0.5984:0.0	.	95	O60813	PRA11_HUMAN	L	95;136;95	ENSP00000439551:V95L;ENSP00000391839:V95L	ENSP00000328783:V136L	V	-	1	0	PRAMEF11	12810161	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.979000	0.03774	-1.849000	0.01171	-0.506000	0.04501	GTG		0.498	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		11	236	0	0	0	0	11	236				
TTF2	8458	broad.mit.edu	37	1	117624536	117624536	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:117624536A>T	ENST00000369466.4	+	10	1914	c.1870A>T	c.(1870-1872)Aaa>Taa	p.K624*		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	624	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGAAAAGGAGAAAAGCACAGC	0.453																																						uc001egy.2		NA																	0				ovary(1)	1						c.(1870-1872)AAA>TAA		transcription termination factor, RNA polymerase							118.0	116.0	117.0					1																	117624536		2203	4300	6503	SO:0001587	stop_gained	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117624536A>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.1870A>T	1.37:g.117624536A>T	ENSP00000358478:p.Lys624*					TTF2_uc001egx.1_Nonsense_Mutation_p.K624*	p.K624*	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	10	1890	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	624			Helicase ATP-binding.		A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	ENST00000369466.4	37	c.1870A>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.544898	0.86022	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.84	-3.97	0.04094	.	0.737262	0.11685	N	0.539459	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2174	8.1858	0.31337	0.3391:0.1538:0.5071:0.0	.	.	.	.	X	624	.	ENSP00000358478:K624X	K	+	1	0	TTF2	117426059	0.007000	0.16637	0.005000	0.12908	0.012000	0.07955	1.189000	0.32114	-0.320000	0.08640	-0.379000	0.06801	AAA		0.453	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			5	53	0	0	0	0	5	53				
FLG	2312	broad.mit.edu	37	1	152280551	152280551	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:152280551C>A	ENST00000368799.1	-	3	6846	c.6811G>T	c.(6811-6813)Gct>Tct	p.A2271S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2271	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTCCTGAGCAGATCCATGA	0.582									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6811-6813)GCT>TCT		filaggrin							199.0	200.0	200.0					1																	152280551		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280551C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6811G>T	1.37:g.152280551C>A	ENSP00000357789:p.Ala2271Ser						p.A2271S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6847	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2271			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6811G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	6.871	0.530137	0.13127	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.01685	4.69	3.41	-6.83	0.01693	.	.	.	.	.	T	0.00300	0.0009	L	0.36672	1.1	0.09310	N	1	B	0.13145	0.007	B	0.09377	0.004	T	0.50250	-0.8850	9	0.07325	T	0.83	.	1.1931	0.01869	0.2345:0.1642:0.1234:0.4778	.	2271	P20930	FILA_HUMAN	S	2271;181	ENSP00000357789:A2271S	ENSP00000271820:A181S	A	-	1	0	FLG	150547175	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-6.936000	0.00049	-1.981000	0.00989	0.436000	0.28706	GCT		0.582	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		25	264	1	0	5.45e-15	7.68e-15	25	264				
CCDC181	57821	broad.mit.edu	37	1	169390949	169390949	+	Silent	SNP	A	A	C			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:169390949A>C	ENST00000367806.3	-	3	872	c.720T>G	c.(718-720)ccT>ccG	p.P240P	CCDC181_ENST00000367805.3_Silent_p.P240P|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Silent_p.P240P	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	240						nucleus (GO:0005634)											TATTAATGGGAGGCAAAAACC	0.408																																						uc001gga.1		NA																	0					0						c.(718-720)CCT>CCG		hypothetical protein LOC57821							118.0	118.0	118.0					1																	169390949		2203	4300	6503	SO:0001819	synonymous_variant	57821							g.chr1:169390949A>C	AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.720T>G	1.37:g.169390949A>C						C1orf114_uc001gfz.1_Silent_p.P240P|C1orf114_uc009wvq.1_Silent_p.P240P|C1orf114_uc001ggb.2_Silent_p.P240P|C1orf114_uc001ggc.1_Silent_p.P240P	p.P240P	NM_021179	NP_067002	Q5TID7	CA114_HUMAN			3	888	-	all_hematologic(923;0.208)		240					O60780|Q53FD5|Q5TID9|Q8TC48	Silent	SNP	ENST00000367806.3	37	c.720T>G																																																																																					0.408	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086099.1	NM_021179		17	109	0	0	0	0	17	109				
SRGAP2	23380	broad.mit.edu	37	1	206628236	206628236	+	Silent	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr1:206628236C>T	ENST00000414007.1	+	17	1953	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V	SRGAP2_ENST00000419187.2_Silent_p.V96V|SRGAP2_ENST00000471256.1_3'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	791	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AGGACGGTGTCGTGGAGAGGT	0.597																																						uc001hdy.2		NA																	0					0						c.(2110-2112)GTC>GTT		SLIT-ROBO Rho GTPase activating protein 2							49.0	55.0	53.0					1																	206628236		2018	4176	6194	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206628236C>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1953C>T	1.37:g.206628236C>T						SRGAP2_uc001hdx.2_Silent_p.V704V|SRGAP2_uc010pru.1_Silent_p.V627V	p.V704V	NM_015326	NP_056141	O75044	FNBP2_HUMAN			18	2445	+	Breast(84;0.137)		791						Silent	SNP	ENST00000414007.1	37	c.2112C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.425|6.425	0.446557|0.446557	0.12223|0.12223	.|.	.|.	ENSG00000163486|ENSG00000163486	ENST00000295713|ENST00000426388	.|.	.|.	.|.	5.8|5.8	5.8|5.8	0.92144|0.92144	.|.	.|.	.|.	.|.	.|.	T|T	0.42337|0.42337	0.1198|0.1198	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.53683|0.53683	-0.8404|-0.8404	3|3	.|.	.|.	.|.	.|.	5.3328|5.3328	0.15942|0.15942	0.1487:0.6319:0.1432:0.0762|0.1487:0.6319:0.1432:0.0762	.|.	.|.	.|.	.|.	C|L	705|74	.|.	.|.	R|S	+|+	1|2	0|0	SRGAP2|SRGAP2	204694859|204694859	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	0.649000|0.649000	0.24843|0.24843	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	CGT|TCG		0.597	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		4	34	0	0	0	0	4	34				
C10orf107	219621	broad.mit.edu	37	10	63450358	63450358	+	Silent	SNP	A	A	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr10:63450358A>G	ENST00000330194.2	+	4	572	c.267A>G	c.(265-267)gaA>gaG	p.E89E		NM_173554.2	NP_775825.1	Q8IVU9	CJ107_HUMAN	chromosome 10 open reading frame 107	89										breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1)	8	Prostate(12;0.016)					CTGCCAGGGAAGAAATTGTGA	0.343																																						uc010qik.1		NA																	0					0						c.(265-267)GAA>GAG		hypothetical protein LOC219621							134.0	133.0	133.0					10																	63450358		2203	4299	6502	SO:0001819	synonymous_variant	219621							g.chr10:63450358A>G	BC041932	CCDS7262.1	10q21.3	2012-06-01			ENSG00000183346	ENSG00000183346			28678	protein-coding gene	gene with protein product						12477932	Standard	NM_173554		Approved	bA63A2.1, Em:AC022398.2, MGC44593	uc010qik.2	Q8IVU9	OTTHUMG00000018295	ENST00000330194.2:c.267A>G	10.37:g.63450358A>G							p.E89E	NM_173554	NP_775825	Q8IVU9	CJ107_HUMAN			4	572	+	Prostate(12;0.016)		89					Q5T1B8	Silent	SNP	ENST00000330194.2	37	c.267A>G	CCDS7262.1	.	.	.	.	.	.	.	.	.	.	A	8.205	0.798967	0.16397	.	.	ENSG00000183346	ENST00000389639	.	.	.	5.48	2.91	0.33838	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48833	-0.9000	4	.	.	.	-16.957	6.1412	0.20261	0.5867:0.0:0.0689:0.3444	.	.	.	.	R	78	.	.	K	+	2	0	C10orf107	63120364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.683000	0.37638	0.965000	0.38133	0.482000	0.46254	AAG		0.343	C10orf107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048228.2	NM_173554		7	46	0	0	0	0	7	46				
SYT9	143425	broad.mit.edu	37	11	7439283	7439283	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:7439283G>A	ENST00000318881.6	+	5	1498	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	421	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.E421K(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGTTTACAACGAAGCCATAGT	0.468																																						uc001mfe.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)|large_intestine(1)	3						c.(1261-1263)GAA>AAA		synaptotagmin IX							182.0	152.0	162.0					11																	7439283		2201	4296	6497	SO:0001583	missense	143425					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr11:7439283G>A	AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1261G>A	11.37:g.7439283G>A	ENSP00000324419:p.Glu421Lys					SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA	p.E421K	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN		Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)	5	1498	+			421			Cytoplasmic (Potential).|C2 2.			Missense_Mutation	SNP	ENST00000318881.6	37	c.1261G>A	CCDS7778.1	.	.	.	.	.	.	.	.	.	.	G	36	5.614628	0.96649	.	.	ENSG00000170743	ENST00000318881	T	0.77750	-1.12	5.85	5.85	0.93711	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000010	D	0.90167	0.6927	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91396	0.5139	10	0.87932	D	0	.	17.6588	0.88185	0.0:0.0:1.0:0.0	.	421	Q86SS6	SYT9_HUMAN	K	421	ENSP00000324419:E421K	ENSP00000324419:E421K	E	+	1	0	SYT9	7395859	1.000000	0.71417	0.976000	0.42696	0.972000	0.66771	9.476000	0.97823	2.753000	0.94483	0.655000	0.94253	GAA		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733		6	61	0	0	0	0	6	61				
OR4C16	219428	broad.mit.edu	37	11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	rs374191202		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATTTTTTTGCGTCTCTACTTG	0.368													g|||	1	0.000199681	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.001					uc010rih.1		NA																	3	Substitution - Missense(3)		prostate(2)|lung(1)	ovary(1)|skin(1)	2						c.(91-93)CGT>CAT		olfactory receptor, family 4, subfamily C,							189.0	177.0	181.0					11																	55339695		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339695G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.92G>A	11.37:g.55339695G>A	ENSP00000324913:p.Arg31His						p.R31H	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	92	+		all_epithelial(135;0.0748)	31			Helical; Name=1; (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.92G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519004	0.27211	.	.	ENSG00000181935	ENST00000314634	T	0.00438	7.42	4.98	3.85	0.44370	.	2.239510	0.01631	N	0.023546	T	0.00300	0.0009	N	0.14661	0.345	0.09310	N	1	B	0.25351	0.124	B	0.12837	0.008	T	0.47156	-0.9139	10	0.87932	D	0	.	9.0123	0.36148	0.0:0.0:0.1863:0.8137	.	31	Q8NGL9	OR4CG_HUMAN	H	31	ENSP00000324913:R31H	ENSP00000324913:R31H	R	+	2	0	OR4C16	55096271	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.003000	0.12901	0.915000	0.36847	-0.425000	0.05940	CGT		0.368	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		7	89	0	0	0	0	7	89				
WDR74	54663	broad.mit.edu	37	11	62606655	62606655	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:62606655C>T	ENST00000525239.1	-	4	761	c.224G>A	c.(223-225)gGc>gAc	p.G75D	WDR74_ENST00000540620.1_5'UTR|WDR74_ENST00000311713.7_Missense_Mutation_p.G75D|WDR74_ENST00000529106.1_Missense_Mutation_p.G75D|WDR74_ENST00000525752.1_Missense_Mutation_p.G18D|RNU2-2P_ENST00000410396.1_RNA|WDR74_ENST00000278856.4_Missense_Mutation_p.G75D			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	75					blastocyst formation (GO:0001825)|RNA metabolic process (GO:0016070)	nucleolus (GO:0005730)|nucleus (GO:0005634)				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						CTGGAATATGCCATCCTCGGT	0.652																																						uc001nvm.1		NA																	0				ovary(1)	1						c.(223-225)GGC>GAC		WD repeat domain 74							44.0	49.0	47.0					11																	62606655		2083	4207	6290	SO:0001583	missense	54663					nucleolus		g.chr11:62606655C>T		CCDS44630.1	11q12.3	2013-01-09				ENSG00000133316		"""WD repeat domain containing"""	25529	protein-coding gene	gene with protein product							Standard	NM_018093		Approved	FLJ10439	uc001nvm.2	Q6RFH5		ENST00000525239.1:c.224G>A	11.37:g.62606655C>T	ENSP00000432119:p.Gly75Asp					WDR74_uc001nvk.1_Missense_Mutation_p.G18D|WDR74_uc001nvl.1_Missense_Mutation_p.G75D|WDR74_uc001nvn.1_Missense_Mutation_p.G127D|WDR74_uc009yoi.1_Missense_Mutation_p.G75D|WDR74_uc010rmk.1_Missense_Mutation_p.G75D	p.G75D	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN			4	392	-			75			WD 1.		A8K8G5|Q9BRC9|Q9H6X8|Q9NVY2	Missense_Mutation	SNP	ENST00000525239.1	37	c.224G>A	CCDS44630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.32|17.32	3.359979|3.359979	0.61403|0.61403	.|.	.|.	ENSG00000133316|ENSG00000133316	ENST00000311713;ENST00000529106;ENST00000525239;ENST00000278856;ENST00000525752|ENST00000535048	T;T;T;T;T|.	0.37752|.	1.18;1.18;1.18;1.18;1.18|.	4.7|4.7	4.7|4.7	0.59300|0.59300	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.	0.130054|.	0.51477|.	D|.	0.000092|.	T|.	0.61640|.	0.2363|.	L|L	0.55834|0.55834	1.745|1.745	0.47994|0.47994	D|D	0.999566|0.999566	D;D;D;D|.	0.76494|.	0.999;0.996;0.975;0.982|.	D;P;P;P|.	0.70016|.	0.967;0.883;0.489;0.79|.	T|.	0.60100|.	-0.7329|.	10|.	0.18710|.	T|.	0.47|.	-13.5883|-13.5883	11.1051|11.1051	0.48199|0.48199	0.0:0.8123:0.1877:0.0|0.0:0.8123:0.1877:0.0	.|.	75;18;75;75|.	B4E018;E9PS41;Q6RFH5;Q6RFH5-2|.	.;.;WDR74_HUMAN;.|.	D|X	75;75;75;75;18|66	ENSP00000308931:G75D;ENSP00000435726:G75D;ENSP00000432119:G75D;ENSP00000278856:G75D;ENSP00000432113:G18D|.	ENSP00000278856:G75D|.	G|W	-|-	2|3	0|0	WDR74|WDR74	62363231|62363231	0.781000|0.781000	0.28676|0.28676	0.405000|0.405000	0.26409|0.26409	0.301000|0.301000	0.27625|0.27625	2.717000|2.717000	0.47227|0.47227	2.142000|2.142000	0.66516|0.66516	0.655000|0.655000	0.94253|0.94253	GGC|TGG		0.652	WDR74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395678.1	NM_018093		4	46	0	0	0	0	4	46				
SESN3	143686	broad.mit.edu	37	11	94911920	94911920	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr11:94911920T>G	ENST00000536441.1	-	7	1346	c.1010A>C	c.(1009-1011)gAc>gCc	p.D337A	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000278499.2_Missense_Mutation_p.D198A	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	337					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCTGGCAAAGTCTTCATACCC	0.363																																						uc001pfk.1		NA																	0					0						c.(1009-1011)GAC>GCC		sestrin 3							114.0	108.0	110.0					11																	94911920		2201	4298	6499	SO:0001583	missense	143686				cell cycle arrest	nucleus		g.chr11:94911920T>G	AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1010A>C	11.37:g.94911920T>G	ENSP00000441927:p.Asp337Ala					SESN3_uc010rug.1_Missense_Mutation_p.D198A	p.D337A	NM_144665	NP_653266	P58005	SESN3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.234)	7	1232	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	337					B7Z7P9|Q96AD1	Missense_Mutation	SNP	ENST00000536441.1	37	c.1010A>C	CCDS8303.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664380	0.88251	.	.	ENSG00000149212	ENST00000536441;ENST00000278499	T;T	0.35789	1.29;1.29	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.67906	0.2943	M	0.90019	3.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75548	-0.3279	10	0.87932	D	0	-2.3642	16.2322	0.82352	0.0:0.0:0.0:1.0	.	198;337	B7Z7P9;P58005	.;SESN3_HUMAN	A	337;198	ENSP00000441927:D337A;ENSP00000278499:D198A	ENSP00000278499:D198A	D	-	2	0	SESN3	94551568	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.233000	0.78125	2.288000	0.76882	0.528000	0.53228	GAC		0.363	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665		7	46	0	0	0	0	7	46				
ST8SIA1	6489	broad.mit.edu	37	12	22408274	22408274	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:22408274C>T	ENST00000396037.4	-	3	912	c.431G>A	c.(430-432)gGt>gAt	p.G144D	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	144					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CAGAATCCCACCATTTCCCAC	0.517																																						uc001rfo.3		NA																	0				ovary(3)	3						c.(430-432)GGT>GAT		alpha-2,8-sialyltransferase 1							128.0	136.0	133.0					12																	22408274		2203	4300	6503	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22408274C>T	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.431G>A	12.37:g.22408274C>T	ENSP00000379353:p.Gly144Asp					ST8SIA1_uc009zix.2_Intron	p.G144D	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			3	913	-			144			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.431G>A	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475669	0.84640	.	.	ENSG00000111728	ENST00000396037;ENST00000540824;ENST00000541868	T;T;T	0.39592	1.07;1.07;1.07	5.81	4.92	0.64577	.	0.045340	0.85682	N	0.000000	T	0.72724	0.3496	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.81223	-0.1030	10	0.87932	D	0	-12.4342	14.8158	0.70034	0.0:0.931:0.0:0.069	.	144	Q92185	SIA8A_HUMAN	D	144;95;121	ENSP00000379353:G144D;ENSP00000441707:G95D;ENSP00000440292:G121D	ENSP00000379353:G144D	G	-	2	0	ST8SIA1	22299541	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.517000	0.73759	1.449000	0.47699	0.650000	0.86243	GGT		0.517	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		10	100	0	0	0	0	10	100				
KMT2D	8085	broad.mit.edu	37	12	49445626	49445626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:49445626C>A	ENST00000301067.7	-	10	1839	c.1840G>T	c.(1840-1842)Gag>Tag	p.E614*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	614	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AGGGGAGACTCCTCAGGTGGA	0.602																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1840-1842)GAG>TAG		myeloid/lymphoid or mixed-lineage leukemia 2							75.0	78.0	77.0					12																	49445626		2096	4211	6307	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445626C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1840G>T	12.37:g.49445626C>A	ENSP00000301067:p.Glu614*	HNSCC(34;0.089)					p.E614*	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	1840	-			614			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.1840G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	36	5.933996	0.97122	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.99	3.99	0.46301	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.3942	0.67001	0.0:1.0:0.0:0.0	.	.	.	.	X	614	.	ENSP00000301067:E614X	E	-	1	0	MLL2	47731893	0.003000	0.15002	0.997000	0.53966	0.878000	0.50629	0.904000	0.28491	2.513000	0.84729	0.313000	0.20887	GAG		0.602	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			9	49	1	0	2.18e-05	3.01e-05	9	49				
KIF5A	3798	broad.mit.edu	37	12	57958726	57958726	+	Silent	SNP	C	C	T	rs143178113		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:57958726C>T	ENST00000455537.2	+	6	745	c.471C>T	c.(469-471)caC>caT	p.H157H	KIF5A_ENST00000286452.5_Silent_p.H68H	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	157	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.H157H(1)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						TGTCCGTGCACGAGGACAAGA	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		20414	0.0		0.001	False		,,,				2504	0.0					uc001sor.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(469-471)CAC>CAT		kinesin family member 5A		C		0,4406		0,0,2203	143.0	112.0	123.0		471	-5.5	0.8	12	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	KIF5A	NM_004984.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		157/1033	57958726	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57958726C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.471C>T	12.37:g.57958726C>T						KIF5A_uc010srr.1_Silent_p.H68H	p.H157H	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			6	679	+			157			Kinesin-motor.		A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.471C>T	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		6	33	0	0	0	0	6	33				
THAP2	83591	broad.mit.edu	37	12	72070612	72070612	+	Silent	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr12:72070612G>A	ENST00000308086.2	+	3	1912	c.411G>A	c.(409-411)agG>agA	p.R137R	RP11-293I14.2_ENST00000548802.1_Intron	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	137						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						CAAAAAAGAGGATCATTAAAC	0.383																																						uc001swq.2		NA																	0				ovary(1)	1						c.(409-411)AGG>AGA		THAP domain containing, apoptosis associated							70.0	74.0	73.0					12																	72070612		2203	4299	6502	SO:0001819	synonymous_variant	83591					nucleolus	DNA binding|metal ion binding	g.chr12:72070612G>A	BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.411G>A	12.37:g.72070612G>A							p.R137R	NM_031435	NP_113623	Q9H0W7	THAP2_HUMAN			3	917	+			137					B2R8P3	Silent	SNP	ENST00000308086.2	37	c.411G>A	CCDS9001.1																																																																																				0.383	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435		6	65	0	0	0	0	6	65				
SACS	26278	broad.mit.edu	37	13	23914846	23914846	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr13:23914846C>G	ENST00000382292.3	-	9	3442	c.3169G>C	c.(3169-3171)Gat>Cat	p.D1057H	SACS_ENST00000382298.3_Missense_Mutation_p.D1057H|SACS_ENST00000402364.1_Missense_Mutation_p.D307H			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1057					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTTCTATATCAGGGTCAAAG	0.373																																						uc001uon.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3169-3171)GAT>CAT		sacsin							111.0	113.0	112.0					13																	23914846		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914846C>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3169G>C	13.37:g.23914846C>G	ENSP00000371729:p.Asp1057His					SACS_uc001uoo.2_Missense_Mutation_p.D910H|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	p.D1057H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3758	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1057					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.3169G>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571636	0.65765	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87809	-2.15;-2.3;-2.15	5.96	5.96	0.96718	.	0.053481	0.85682	D	0.000000	D	0.82710	0.5096	L	0.27053	0.805	0.58432	D	0.999996	P	0.35600	0.511	B	0.34824	0.19	T	0.82916	-0.0220	10	0.72032	D	0.01	.	20.394	0.98981	0.0:1.0:0.0:0.0	.	1057	Q9NZJ4	SACS_HUMAN	H	1057;307;1057	ENSP00000371729:D1057H;ENSP00000385844:D307H;ENSP00000371735:D1057H	ENSP00000371729:D1057H	D	-	1	0	SACS	22812846	1.000000	0.71417	0.997000	0.53966	0.843000	0.47879	7.487000	0.81328	2.830000	0.97506	0.585000	0.79938	GAT		0.373	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		5	115	0	0	0	0	5	115				
SMOC1	64093	broad.mit.edu	37	14	70444647	70444647	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr14:70444647A>G	ENST00000381280.4	+	5	744	c.491A>G	c.(490-492)gAc>gGc	p.D164G	SMOC1_ENST00000361956.3_Missense_Mutation_p.D164G	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	164					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TCAGTCACCGACAAGCCCTTG	0.433																																						uc001xls.1		NA																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(490-492)GAC>GGC		secreted modular calcium-binding protein 1							183.0	151.0	162.0					14																	70444647		2203	4300	6503	SO:0001583	missense	64093				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	g.chr14:70444647A>G	AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.491A>G	14.37:g.70444647A>G	ENSP00000370680:p.Asp164Gly					SMOC1_uc001xlt.1_Missense_Mutation_p.D164G	p.D164G	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN		all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)	5	744	+			164					A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	ENST00000381280.4	37	c.491A>G	CCDS9798.1	.	.	.	.	.	.	.	.	.	.	A	14.83	2.651153	0.47362	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.57436	0.4;0.4	5.13	5.13	0.70059	.	0.058045	0.64402	D	0.000003	T	0.48187	0.1486	N	0.24115	0.695	0.47819	D	0.999523	P;P	0.40970	0.734;0.608	P;B	0.48227	0.571;0.202	T	0.40534	-0.9558	10	0.25751	T	0.34	-19.6964	14.9514	0.71077	1.0:0.0:0.0:0.0	.	164;164	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	G	164	ENSP00000355110:D164G;ENSP00000370680:D164G	ENSP00000355110:D164G	D	+	2	0	SMOC1	69514400	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.617000	0.90927	1.928000	0.55862	0.448000	0.29417	GAC		0.433	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412467.1			6	56	0	0	0	0	6	56				
EFTUD1	79631	broad.mit.edu	37	15	82444535	82444535	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr15:82444535G>A	ENST00000268206.7	-	18	2428	c.2260C>T	c.(2260-2262)Cga>Tga	p.R754*	EFTUD1_ENST00000359445.3_Nonsense_Mutation_p.R703*	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	754					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGCATGGCTCGAACACTGAGC	0.438																																						uc002bgt.1		NA																	0				ovary(1)	1						c.(2260-2262)CGA>TGA		elongation factor Tu GTP binding domain							117.0	118.0	118.0					15																	82444535		1921	4139	6060	SO:0001587	stop_gained	79631				mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity	g.chr15:82444535G>A	AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.2260C>T	15.37:g.82444535G>A	ENSP00000268206:p.Arg754*					EFTUD1_uc002bgs.1_Nonsense_Mutation_p.R125*|EFTUD1_uc002bgu.1_Nonsense_Mutation_p.R703*	p.R754*	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN			18	2429	-			754					A6NKY5|B7Z6I0|Q9H8Z6	Nonsense_Mutation	SNP	ENST00000268206.7	37	c.2260C>T	CCDS42071.1	.	.	.	.	.	.	.	.	.	.	G	38	7.070366	0.98044	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	.	.	.	5.94	5.94	0.96194	.	0.217217	0.21707	N	0.070340	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.236	14.2008	0.65703	0.0:0.0:0.7519:0.2481	.	.	.	.	X	754;703	.	ENSP00000268206:R754X	R	-	1	2	EFTUD1	80231590	0.997000	0.39634	0.955000	0.39395	0.991000	0.79684	2.721000	0.47260	2.817000	0.96982	0.563000	0.77884	CGA		0.438	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419252.1	NM_024580		7	75	0	0	0	0	7	75				
SLC28A1	9154	broad.mit.edu	37	15	85447424	85447424	+	Silent	SNP	C	C	T	rs536548509	byFrequency	TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr15:85447424C>T	ENST00000286749.3	+	6	648	c.558C>T	c.(556-558)tgC>tgT	p.C186C	SLC28A1_ENST00000537216.1_Silent_p.C186C|SLC28A1_ENST00000394573.1_Silent_p.C186C|SLC28A1_ENST00000537624.1_Silent_p.C186C|SLC28A1_ENST00000538177.1_Silent_p.C186C|SLC28A1_ENST00000537703.1_Silent_p.C108C			O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	186					nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside transmembrane transporter activity (GO:0005337)|nucleoside:sodium symporter activity (GO:0005415)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)		Gemcitabine(DB00441)|Stavudine(DB00649)|Zidovudine(DB00495)	CAGGAATCTGCGTGTTCGTCG	0.597													C|||	4	0.000798722	0.0	0.0	5008	,	,		20285	0.0		0.0	False		,,,				2504	0.0041					uc002blg.2		NA																	0				skin(2)|ovary(1)	3						c.(556-558)TGC>TGT		solute carrier family 28, member 1 isoform 1							179.0	151.0	161.0					15																	85447424		2203	4299	6502	SO:0001819	synonymous_variant	9154				nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	g.chr15:85447424C>T	U62967	CCDS10334.1, CCDS10335.1, CCDS73777.1	15q25.3	2013-07-17	2013-07-17		ENSG00000156222	ENSG00000156222		"""Solute carriers"""	11001	protein-coding gene	gene with protein product		606207	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 1"""			9124315	Standard	NM_004213		Approved	CNT1	uc002blg.3	O00337	OTTHUMG00000148668	ENST00000286749.3:c.558C>T	15.37:g.85447424C>T						SLC28A1_uc010upd.1_Silent_p.C108C|SLC28A1_uc010bnb.2_Silent_p.C186C|SLC28A1_uc010upe.1_Silent_p.C186C|SLC28A1_uc010upf.1_Silent_p.C186C|SLC28A1_uc010upg.1_Silent_p.C186C	p.C186C	NM_004213	NP_004204	O00337	S28A1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		7	760	+			186			Helical; (Potential).		A0AV42|A8K7I2|O00335|O00336|Q5U5S6|Q5U648|Q9UEZ9	Silent	SNP	ENST00000286749.3	37	c.558C>T	CCDS10334.1																																																																																				0.597	SLC28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308998.2			5	87	0	0	0	0	5	87				
PLK1	5347	broad.mit.edu	37	16	23695252	23695252	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:23695252G>A	ENST00000300093.4	+	5	989	c.878G>A	c.(877-879)cGc>cAc	p.R293H		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	293	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|centrosome organization (GO:0051297)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-serine phosphorylation (GO:0018105)|polar body extrusion after meiotic divisions (GO:0040038)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteolysis (GO:0045862)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein destabilization (GO:0031648)|protein localization to chromatin (GO:0071168)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of protein binding (GO:0043393)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to antibiotic (GO:0046677)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	anaphase-promoting complex binding (GO:0010997)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|microtubule binding (GO:0008017)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		CCCACTGCCCGCCCAACCATT	0.547																																					Colon(12;240 564 27038 33155)	uc002dlz.1		NA																	0				lung(1)|skin(1)	2						c.(877-879)CGC>CAC		polo-like kinase 1							233.0	242.0	239.0					16																	23695252		2197	4300	6497	SO:0001583	missense	5347				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding	g.chr16:23695252G>A		CCDS10616.1	16p	2013-01-17	2010-06-24	2004-01-28	ENSG00000166851	ENSG00000166851			9077	protein-coding gene	gene with protein product		602098	"""polo-like kinase (Drosophila)"""	PLK		8127874	Standard	NM_005030		Approved		uc002dlz.1	P53350	OTTHUMG00000096984	ENST00000300093.4:c.878G>A	16.37:g.23695252G>A	ENSP00000300093:p.Arg293His						p.R293H	NM_005030	NP_005021	P53350	PLK1_HUMAN		GBM - Glioblastoma multiforme(48;0.0156)	5	931	+			293			Protein kinase.		Q15153|Q99746	Missense_Mutation	SNP	ENST00000300093.4	37	c.878G>A	CCDS10616.1	.	.	.	.	.	.	.	.	.	.	G	35	5.421376	0.96111	.	.	ENSG00000166851	ENST00000300093;ENST00000425844	T	0.71934	-0.61	5.17	5.17	0.71159	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	0.90745	0.7095	H	0.98996	4.395	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94284	0.7522	10	0.87932	D	0	-26.3958	16.5017	0.84259	0.0:0.0:1.0:0.0	.	293	P53350	PLK1_HUMAN	H	293;196	ENSP00000300093:R293H	ENSP00000300093:R293H	R	+	2	0	PLK1	23602753	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.064000	0.93933	2.560000	0.86352	0.655000	0.94253	CGC		0.547	PLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214057.2	NM_005030		12	250	0	0	0	0	12	250				
CNOT1	23019	broad.mit.edu	37	16	58583721	58583721	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:58583721C>G	ENST00000317147.5	-	25	3756	c.3424G>C	c.(3424-3426)Gag>Cag	p.E1142Q	CNOT1_ENST00000569732.1_5'Flank|CNOT1_ENST00000441024.2_Missense_Mutation_p.E1142Q|CNOT1_ENST00000569240.1_Missense_Mutation_p.E1137Q|CNOT1_ENST00000245138.4_Missense_Mutation_p.E32Q|SNORA46_ENST00000384762.1_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1142	Interaction with CNOT6, CNOT6L, CNOT7 and CNOT8.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGTTTGGCTCAATACTGACT	0.393																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(3424-3426)GAG>CAG		CCR4-NOT transcription complex, subunit 1							169.0	159.0	162.0					16																	58583721		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58583721C>G	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.3424G>C	16.37:g.58583721C>G	ENSP00000320949:p.Glu1142Gln					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E1137Q|CNOT1_uc002enx.2_Missense_Mutation_p.E1142Q|CNOT1_uc002enz.1_Missense_Mutation_p.E571Q|CNOT1_uc010vik.1_Missense_Mutation_p.E138Q|SNORA46_uc002eny.1_5'Flank	p.E1142Q	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	25	3717	-			1142					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.3424G>C	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	C	33	5.201269	0.94997	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000245138;ENST00000394200;ENST00000441024	T;T	0.18657	2.2;2.2	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.49455	1.56	0.80722	D	1	D;D;D;D	0.89917	1.0;0.989;1.0;1.0	D;D;D;D	0.97110	1.0;0.979;0.996;0.999	T	0.07462	-1.0771	10	0.38643	T	0.18	.	19.1726	0.93585	0.0:1.0:0.0:0.0	.	32;1142;1142;1137	B5MDN3;A5YKK6-4;A5YKK6;A5YKK6-2	.;.;CNOT1_HUMAN;.	Q	1142;571;32;1137;1142	ENSP00000320949:E1142Q;ENSP00000413113:E1142Q	ENSP00000245138:E32Q	E	-	1	0	CNOT1	57141222	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.794000	0.85869	2.536000	0.85505	0.491000	0.48974	GAG		0.393	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		6	87	0	0	0	0	6	87				
ZFHX3	463	broad.mit.edu	37	16	72828433	72828433	+	Silent	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr16:72828433G>A	ENST00000268489.5	-	9	8820	c.8148C>T	c.(8146-8148)tgC>tgT	p.C2716C	ZFHX3_ENST00000397992.5_Silent_p.C1802C|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2716					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C2716>?(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGAGCGCTCTGCAAAAAGGGC	0.562																																						uc002fck.2		NA																	1	Complex(1)		large_intestine(1)	ovary(2)|skin(2)	4						c.(8146-8148)TGC>TGT		zinc finger homeobox 3 isoform A							78.0	69.0	72.0					16																	72828433		2198	4300	6498	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828433G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8148C>T	16.37:g.72828433G>A						ZFHX3_uc002fcl.2_Silent_p.C1802C	p.C2716C	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			9	8821	-		Ovarian(137;0.13)	2716			C2H2-type 20.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.8148C>T	CCDS10908.1																																																																																				0.562	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		17	65	0	0	0	0	17	65				
LEPREL4	10609	broad.mit.edu	37	17	39967445	39967445	+	Missense_Mutation	SNP	T	T	C	rs371239589		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr17:39967445T>C	ENST00000355468.3	-	3	1020	c.554A>G	c.(553-555)tAt>tGt	p.Y185C	FKBP10_ENST00000321562.4_5'Flank|LEPREL4_ENST00000393928.1_Missense_Mutation_p.Y185C			Q92791	SC65_HUMAN	leprecan-like 4	185					synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CATCCCCTGATAGTAGTTGAG	0.647																																						uc002hxt.2		NA																	0					0						c.(553-555)TAT>TGT		synaptonemal complex protein SC65		T	CYS/TYR	0,4406		0,0,2203	177.0	185.0	183.0		554	3.6	1.0	17		183	3,8597	3.0+/-9.4	0,3,4297	no	missense	LEPREL4	NM_006455.2	194	0,3,6500	CC,CT,TT		0.0349,0.0,0.0231	probably-damaging	185/438	39967445	3,13003	2203	4300	6503	SO:0001583	missense	10609				synaptonemal complex assembly	nucleolus|synaptonemal complex	binding	g.chr17:39967445T>C	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.554A>G	17.37:g.39967445T>C	ENSP00000347649:p.Tyr185Cys					FKBP10_uc002hxv.2_5'Flank|SC65_uc002hxu.2_Missense_Mutation_p.Y276C	p.Y185C	NM_006455	NP_006446	Q92791	SC65_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.149)	2	838	-		Breast(137;0.000162)	185					Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	37	c.554A>G	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266912	0.59540	0.0	3.49E-4	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.37915	1.17;1.17	4.69	3.6	0.41247	Tetratricopeptide-like helical (1);	0.062420	0.64402	N	0.000003	T	0.35770	0.0943	M	0.64567	1.98	0.80722	D	1	B;B	0.29085	0.232;0.063	B;B	0.31442	0.13;0.084	T	0.23119	-1.0197	10	0.72032	D	0.01	-10.6129	9.328	0.38005	0.0:0.0868:0.0:0.9132	.	174;185	B4DVZ5;Q92791	.;SC65_HUMAN	C	185;185;174	ENSP00000347649:Y185C;ENSP00000377505:Y185C	ENSP00000347649:Y185C	Y	-	2	0	LEPREL4	37220971	1.000000	0.71417	0.992000	0.48379	0.370000	0.29829	6.000000	0.70678	0.813000	0.34350	0.533000	0.62120	TAT		0.647	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2			27	233	0	0	0	0	27	233				
LDLRAD4	753	broad.mit.edu	37	18	13645527	13645527	+	Silent	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr18:13645527C>T	ENST00000359446.5	+	6	1260	c.792C>T	c.(790-792)ggC>ggT	p.G264G	LDLRAD4_ENST00000361205.4_Silent_p.G264G|LDLRAD4_ENST00000587757.1_Silent_p.G227G|LDLRAD4_ENST00000585931.1_Silent_p.G187G|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000586765.1_Silent_p.G209G|LDLRAD4_ENST00000399848.3_Silent_p.G246G|LDLRAD4_ENST00000592991.1_Silent_p.G166G	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4	264					negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										ACCACCCAGGCGCCTCTTTCC	0.597																																						uc002ksa.2		NA																	0				ovary(2)|skin(1)	3						c.(790-792)GGC>GGT		hypothetical protein LOC753 isoform alpha 1							47.0	51.0	50.0					18																	13645527		2203	4300	6503	SO:0001819	synonymous_variant	753					integral to membrane|plasma membrane		g.chr18:13645527C>T	AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.792C>T	18.37:g.13645527C>T						C18orf1_uc002ksb.2_Silent_p.G246G|C18orf1_uc002kse.2_Silent_p.G227G|C18orf1_uc002ksf.2_Silent_p.G209G|C18orf1_uc002ksg.1_Silent_p.G187G|C18orf1_uc002ksh.1_Silent_p.G206G|C18orf1_uc002ksi.1_Silent_p.G188G	p.G264G	NM_181481	NP_852146	O15165	CR001_HUMAN		READ - Rectum adenocarcinoma(73;0.0642)	7	1460	+			264			Cytoplasmic (Potential).		B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	Silent	SNP	ENST00000359446.5	37	c.792C>T	CCDS32793.1																																																																																				0.597	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458326.1	NM_181481		9	60	0	0	0	0	9	60				
TCEB3B	51224	broad.mit.edu	37	18	44559510	44559510	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr18:44559510C>T	ENST00000332567.4	-	1	2478	c.2126G>A	c.(2125-2127)cGg>cAg	p.R709Q	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	709					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGGTTGGCCCGCTTCTCAGG	0.672																																						uc002lcr.1		NA																	0				ovary(2)|large_intestine(1)|pancreas(1)	4						c.(2125-2127)CGG>CAG		elongin A2							34.0	39.0	37.0					18																	44559510		2202	4300	6502	SO:0001583	missense	51224				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding	g.chr18:44559510C>T	BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2126G>A	18.37:g.44559510C>T	ENSP00000331302:p.Arg709Gln					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.R709Q	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN			1	2479	-			709					Q9P2V9	Missense_Mutation	SNP	ENST00000332567.4	37	c.2126G>A	CCDS11932.1	.	.	.	.	.	.	.	.	.	.	C	6.995	0.553713	0.13374	.	.	ENSG00000206181	ENST00000332567	T	0.06449	3.3	1.42	-2.36	0.06663	.	1.057210	0.07540	U	0.913625	T	0.02230	0.0069	N	0.12182	0.205	0.09310	N	1	D	0.52996	0.957	B	0.37692	0.256	T	0.28933	-1.0028	10	0.12103	T	0.63	.	0.3871	0.00404	0.2511:0.3022:0.2494:0.1972	.	709	Q8IYF1	ELOA2_HUMAN	Q	709	ENSP00000331302:R709Q	ENSP00000331302:R709Q	R	-	2	0	TCEB3B	42813508	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.681000	0.01937	-0.829000	0.04268	-0.175000	0.13238	CGG		0.672	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427		5	62	0	0	0	0	5	62				
LPHN1	22859	broad.mit.edu	37	19	14268749	14268749	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr19:14268749G>A	ENST00000340736.6	-	14	2792	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.T827M|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	832	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGGCACACGTGGTATGGGT	0.597																																						uc010xnn.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)	5						c.(2494-2496)ACG>ATG		latrophilin 1 isoform 1 precursor							162.0	126.0	138.0					19																	14268749		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14268749G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.2495C>T	19.37:g.14268749G>A	ENSP00000340688:p.Thr832Met					LPHN1_uc010xno.1_Missense_Mutation_p.T827M|uc002myf.2_Intron	p.T832M	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN			14	2791	-			832			GPS.|Extracellular (Potential).		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.2495C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533244	0.85812	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.70282	-0.47;-0.47	4.97	4.97	0.65823	GPS domain (3);	0.000000	0.85682	D	0.000000	D	0.84579	0.5503	M	0.81614	2.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.86854	0.2025	10	0.87932	D	0	.	16.0671	0.80891	0.0:0.0:1.0:0.0	.	827;832	O94910-2;O94910	.;LPHN1_HUMAN	M	832;827	ENSP00000340688:T832M;ENSP00000355328:T827M	ENSP00000340688:T832M	T	-	2	0	LPHN1	14129749	1.000000	0.71417	0.983000	0.44433	0.993000	0.82548	8.004000	0.88535	2.456000	0.83038	0.561000	0.74099	ACG		0.597	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		5	61	0	0	0	0	5	61				
ZNF540	163255	broad.mit.edu	37	19	38102814	38102814	+	Silent	SNP	T	T	C			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr19:38102814T>C	ENST00000592533.1	+	5	965	c.633T>C	c.(631-633)ggT>ggC	p.G211G	ZNF540_ENST00000589117.1_Silent_p.G179G|ZNF540_ENST00000316433.4_Silent_p.G211G|ZNF540_ENST00000343599.5_Silent_p.G211G	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	211					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCATACTGGTGAAAAATCCT	0.338																																						uc002ogq.2		NA																	0				large_intestine(1)	1						c.(631-633)GGT>GGC		zinc finger protein 540							47.0	49.0	49.0					19																	38102814		2203	4299	6502	SO:0001819	synonymous_variant	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38102814T>C	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.633T>C	19.37:g.38102814T>C						ZNF540_uc002ogu.2_Silent_p.G211G|ZNF540_uc010efq.2_Silent_p.G179G	p.G211G	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	965	+			211					A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Silent	SNP	ENST00000592533.1	37	c.633T>C	CCDS12506.1																																																																																				0.338	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		3	50	0	0	0	0	3	50				
ANKRD36	375248	broad.mit.edu	37	2	97867947	97867947	+	Missense_Mutation	SNP	C	C	G	rs10203570		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr2:97867947C>G	ENST00000461153.2	+	47	3110	c.2866C>G	c.(2866-2868)Cag>Gag	p.Q956E	ANKRD36_ENST00000420699.2_Missense_Mutation_p.Q956E			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	956										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGTGTCTTCTCAGAAACCACC	0.343																																						uc010yva.1		NA																	0					0						c.(2866-2868)CAG>GAG		ankyrin repeat domain 36							116.0	117.0	117.0					2																	97867947		692	1591	2283	SO:0001583	missense	375248							g.chr2:97867947C>G	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2866C>G	2.37:g.97867947C>G	ENSP00000419530:p.Gln956Glu					ANKRD36_uc002sxp.3_RNA	p.Q956E	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN			47	3110	+			956					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	ENST00000461153.2	37	c.2866C>G	CCDS54379.1	79	0.036172161172161175	61	0.12398373983739837	3	0.008287292817679558	14	0.024475524475524476	1	0.0013192612137203166	.	3.010	-0.204111	0.06180	.	.	ENSG00000135976	ENST00000461153;ENST00000420699;ENST00000461694	T;T	0.78246	-1.16;-1.16	0.673	-1.35	0.09114	.	.	.	.	.	T	0.01222	0.0040	L	0.29908	0.895	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.02933	-1.1092	8	0.05436	T	0.98	.	.	.	.	rs10203570	956	A6QL64	AN36A_HUMAN	E	956;956;318	ENSP00000419530:Q956E;ENSP00000391950:Q956E	ENSP00000391950:Q956E	Q	+	1	0	ANKRD36	97231674	0.627000	0.27129	0.020000	0.16555	0.034000	0.12701	0.091000	0.15046	-0.447000	0.07138	0.175000	0.17021	CAG		0.343	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			2	13	0	0	0	0	2	13				
KIF3B	9371	broad.mit.edu	37	20	30897727	30897727	+	Silent	SNP	G	G	A	rs375081058		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:30897727G>A	ENST00000375712.3	+	2	314	c.147G>A	c.(145-147)acG>acA	p.T49T	KIF3B_ENST00000418717.2_5'Flank	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	49	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAAAGGGACGGCCCATGAAA	0.512																																						uc002wxq.2		NA																	0				central_nervous_system(3)|ovary(2)	5						c.(145-147)ACG>ACA		kinesin family member 3B		G		0,4406		0,0,2203	159.0	132.0	141.0		147	-4.8	0.0	20		141	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KIF3B	NM_004798.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		49/748	30897727	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30897727G>A	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.147G>A	20.37:g.30897727G>A						KIF3B_uc010ztv.1_Silent_p.T49T|KIF3B_uc010ztw.1_Silent_p.T49T	p.T49T	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	314	+			49			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	Silent	SNP	ENST00000375712.3	37	c.147G>A	CCDS13200.1																																																																																				0.512	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1	NM_004798		5	52	0	0	0	0	5	52				
BPIFB6	128859	broad.mit.edu	37	20	31622901	31622901	+	Missense_Mutation	SNP	T	T	C			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:31622901T>C	ENST00000349552.1	+	5	467	c.467T>C	c.(466-468)aTg>aCg	p.M156T		NM_174897.2	NP_777557.1	Q8NFQ5	BPIB6_HUMAN	BPI fold containing family B, member 6	156						extracellular region (GO:0005576)	lipid binding (GO:0008289)										CTCCCCAAGATGGTCAACAAG	0.577																																						uc010zuc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(466-468)ATG>ACG		bactericidal/permeability-increasing							95.0	78.0	83.0					20																	31622901		2203	4300	6503	SO:0001583	missense	128859					extracellular region	lipid binding	g.chr20:31622901T>C	AF465767	CCDS13211.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000167104	ENSG00000167104		"""BPI fold containing"""	16504	protein-coding gene	gene with protein product		614110	"""bactericidal/permeability-increasing protein-like 3"""	BPIL3		12185532, 21787333	Standard	NM_174897		Approved	LPLUNC6	uc010zuc.2	Q8NFQ5	OTTHUMG00000032238	ENST00000349552.1:c.467T>C	20.37:g.31622901T>C	ENSP00000344929:p.Met156Thr					BPIL3_uc010zud.1_Missense_Mutation_p.M95T	p.M156T	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN			5	467	+			156						Missense_Mutation	SNP	ENST00000349552.1	37	c.467T>C	CCDS13211.1	.	.	.	.	.	.	.	.	.	.	T	11.33	1.606435	0.28623	.	.	ENSG00000167104	ENST00000349552	T	0.04360	3.64	4.55	3.44	0.39384	.	0.718820	0.12415	N	0.470912	T	0.04815	0.0130	L	0.36672	1.1	0.09310	N	0.99999	B	0.20164	0.042	B	0.22152	0.038	T	0.40813	-0.9543	10	0.35671	T	0.21	-17.2234	6.4263	0.21772	0.0:0.1187:0.0:0.8813	.	156	Q8NFQ5	BPIB6_HUMAN	T	156	ENSP00000344929:M156T	ENSP00000344929:M156T	M	+	2	0	BPIFB6	31086562	0.996000	0.38824	0.784000	0.31847	0.992000	0.81027	2.510000	0.45468	0.706000	0.31912	0.459000	0.35465	ATG		0.577	BPIFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078658.2	NM_174897		11	52	0	0	0	0	11	52				
TOMM34	10953	broad.mit.edu	37	20	43585027	43585027	+	Splice_Site	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:43585027G>A	ENST00000372813.3	-	2	379	c.227C>T	c.(226-228)tCa>tTa	p.S76L	PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	76					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GGCCACTTACGAAGTGCAATC	0.468																																						uc002xmy.2		NA																	0					0						c.(226-228)TCA>TTA		translocase of outer mitochondrial membrane 34							218.0	215.0	216.0					20																	43585027		2203	4300	6503	SO:0001630	splice_region_variant	10953				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	g.chr20:43585027G>A	U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.227+1C>T	20.37:g.43585027G>A						PABPC1L_uc002xmx.2_Intron|TOMM34_uc002xmz.2_RNA	p.S76L	NM_006809	NP_006800	Q15785	TOM34_HUMAN			2	367	-		Myeloproliferative disorder(115;0.0122)	76			TPR 2.		Q53GH9|Q6IBN7|Q9NTZ3	Missense_Mutation	SNP	ENST00000372813.3	37	c.227C>T	CCDS13340.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245642	0.39697	.	.	ENSG00000025772	ENST00000372813	T	0.58358	0.34	4.9	1.67	0.24075	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	1.002150	0.08037	N	0.994517	T	0.36608	0.0973	L	0.33753	1.03	0.39218	D	0.963442	B	0.14805	0.011	B	0.12156	0.007	T	0.33777	-0.9855	9	.	.	.	-36.5068	3.3961	0.07307	0.2958:0.0:0.522:0.1821	.	76	Q15785	TOM34_HUMAN	L	76	ENSP00000361900:S76L	.	S	-	2	0	TOMM34	43018441	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.374000	0.34283	0.661000	0.30985	0.491000	0.48974	TCA		0.468	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079390.3	NM_006809	Missense_Mutation	14	203	0	0	0	0	14	203				
SYCP2	10388	broad.mit.edu	37	20	58471566	58471566	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr20:58471566T>A	ENST00000357552.3	-	19	1647	c.1422A>T	c.(1420-1422)aaA>aaT	p.K474N	SYCP2_ENST00000371001.2_Missense_Mutation_p.K474N			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	474					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)	p.K474N(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ACATTTTTCTTTTGCTAGGAG	0.318																																						uc002yaz.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)|lung(2)	5						c.(1420-1422)AAA>AAT		synaptonemal complex protein 2							84.0	81.0	82.0					20																	58471566		2203	4299	6502	SO:0001583	missense	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58471566T>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1422A>T	20.37:g.58471566T>A	ENSP00000350162:p.Lys474Asn						p.K474N	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		18	1561	-	all_lung(29;0.00344)		474					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	ENST00000357552.3	37	c.1422A>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.205109	0.79127	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.29397	1.8;1.8;1.57	5.59	5.59	0.84812	.	0.087877	0.49305	D	0.000155	T	0.49440	0.1557	L	0.58101	1.795	0.29307	N	0.868262	D	0.67145	0.996	D	0.68943	0.961	T	0.51934	-0.8642	10	0.72032	D	0.01	-15.5527	12.1447	0.54016	0.0:0.0:0.0:1.0	.	474	Q9BX26	SYCP2_HUMAN	N	474	ENSP00000360040:K474N;ENSP00000350162:K474N;ENSP00000402456:K474N	ENSP00000350162:K474N	K	-	3	2	SYCP2	57904961	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.336000	0.43938	2.123000	0.65237	0.443000	0.29094	AAA		0.318	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		7	38	0	0	0	0	7	38				
CCT8L2	150160	broad.mit.edu	37	22	17072504	17072504	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr22:17072504C>G	ENST00000359963.3	-	1	1196	c.937G>C	c.(937-939)Gtg>Ctg	p.V313L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	313					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)	p.V313M(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557																																						uc002zlp.1		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(937-939)GTG>CTG		T-complex protein 1							197.0	174.0	182.0					22																	17072504		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072504C>G	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.937G>C	22.37:g.17072504C>G	ENSP00000353048:p.Val313Leu						p.V313L	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	1197	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	313					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.937G>C	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	3.086	-0.187898	0.06299	.	.	ENSG00000198445	ENST00000359963	T	0.74209	-0.82	1.98	0.869	0.19096	.	0.138719	0.32719	U	0.005730	T	0.35828	0.0945	N	0.01729	-0.75	0.21020	N	0.999806	B	0.11235	0.004	B	0.06405	0.002	T	0.35798	-0.9774	10	0.02654	T	1	-26.8196	3.695	0.08361	0.0:0.2182:0.0:0.7818	.	313	Q96SF2	TCPQM_HUMAN	L	313	ENSP00000353048:V313L	ENSP00000353048:V313L	V	-	1	0	CCT8L2	15452504	0.985000	0.35326	0.959000	0.39883	0.033000	0.12548	0.049000	0.14099	0.063000	0.16370	-0.552000	0.04208	GTG		0.557	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			14	132	0	0	0	0	14	132				
C22orf42	150297	broad.mit.edu	37	22	32548591	32548591	+	Silent	SNP	C	C	T	rs542443093	byFrequency	TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr22:32548591C>T	ENST00000382097.3	-	3	402	c.330G>A	c.(328-330)gcG>gcA	p.A110A	C22orf42_ENST00000490640.1_5'Flank	NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	110										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CGTGTGCAGACGCCTGCACAT	0.493													.|||	4	0.000798722	0.0	0.0	5008	,	,		18927	0.0		0.0	False		,,,				2504	0.0041					uc003amd.2		NA																	0				ovary(1)|skin(1)	2						c.(328-330)GCG>GCA		chromosome 22 open reading frame 42							53.0	59.0	57.0					22																	32548591		2202	4299	6501	SO:0001819	synonymous_variant	150297							g.chr22:32548591C>T	BC040263	CCDS33639.1	22q12.3	2009-03-05			ENSG00000205856	ENSG00000205856			27160	protein-coding gene	gene with protein product						12477932	Standard	XM_005261369		Approved		uc003amd.3	Q6IC83	OTTHUMG00000030380	ENST00000382097.3:c.330G>A	22.37:g.32548591C>T							p.A110A	NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN			3	371	-			110					A4QPH5	Silent	SNP	ENST00000382097.3	37	c.330G>A	CCDS33639.1																																																																																				0.493	C22orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075268.2	NM_001010859		6	46	0	0	0	0	6	46				
SLC6A6	6533	broad.mit.edu	37	3	14526472	14526472	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr3:14526472C>T	ENST00000454876.2	+	15	2149	c.1820C>T	c.(1819-1821)gCt>gTt	p.A607V	SLC6A6_ENST00000360861.3_Missense_Mutation_p.A607V			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	607					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATGAACGGCGCTCTCGTGAAA	0.577																																						uc010heg.2		NA																	0				ovary(1)	1						c.(1819-1821)GCT>GTT		solute carrier family 6 (neurotransmitter							69.0	55.0	60.0					3																	14526472		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14526472C>T		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1820C>T	3.37:g.14526472C>T	ENSP00000398063:p.Ala607Val					SLC6A6_uc003byq.2_Missense_Mutation_p.A607V|SLC6A6_uc003byr.2_RNA	p.A607V	NM_001134367	NP_001127839	P31641	SC6A6_HUMAN			22	2111	+			607			Cytoplasmic (Potential).		B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.1820C>T	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.688076	0.29962	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.72835	-0.69;-0.69	5.17	0.628	0.17681	.	2.223100	0.01694	N	0.026810	T	0.51126	0.1656	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26189	-1.0110	10	0.19590	T	0.45	.	0.6057	0.00752	0.2287:0.2189:0.3254:0.2269	.	607	P31641	SC6A6_HUMAN	V	607	ENSP00000398063:A607V;ENSP00000354107:A607V	ENSP00000354107:A607V	A	+	2	0	SLC6A6	14501476	0.011000	0.17503	0.000000	0.03702	0.011000	0.07611	1.878000	0.39608	0.460000	0.27045	0.313000	0.20887	GCT		0.577	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		3	22	0	0	0	0	3	22				
GRM2	2912	broad.mit.edu	37	3	51743211	51743211	+	Missense_Mutation	SNP	G	G	A	rs200502357		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr3:51743211G>A	ENST00000395052.3	+	2	446	c.212G>A	c.(211-213)cGc>cAc	p.R71H	GRM2_ENST00000475478.1_Intron|GRM2_ENST00000442933.2_Missense_Mutation_p.R71H	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	71					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCACTGGACCGCATCAACCGT	0.632																																						uc010hlv.2		NA																	0				lung(1)	1						c.(211-213)CGC>CAC		glutamate receptor, metabotropic 2 isoform a	Acamprosate(DB00659)|Nicotine(DB00184)						127.0	115.0	119.0					3																	51743211		2203	4300	6503	SO:0001583	missense	2912				synaptic transmission	integral to plasma membrane		g.chr3:51743211G>A	L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.212G>A	3.37:g.51743211G>A	ENSP00000378492:p.Arg71His					GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA	p.R71H	NM_000839	NP_000830	Q14416	GRM2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	2	451	+			71			Extracellular (Potential).		B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	ENST00000395052.3	37	c.212G>A	CCDS2834.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247197	0.80024	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.86497	-2.13;-2.13	5.28	4.41	0.53225	Extracellular ligand-binding receptor (1);	0.167226	0.46758	D	0.000274	T	0.81093	0.4751	L	0.56199	1.76	0.42153	D	0.991563	B	0.28419	0.211	B	0.21917	0.037	T	0.78252	-0.2276	10	0.62326	D	0.03	.	5.1701	0.15105	0.2123:0.1632:0.6245:0.0	.	71	Q14416	GRM2_HUMAN	H	71	ENSP00000378492:R71H;ENSP00000408906:R71H	ENSP00000296479:R71H	R	+	2	0	GRM2	51718251	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.691000	0.54720	1.245000	0.43885	-0.137000	0.14449	CGC		0.632	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346542.1			8	89	0	0	0	0	8	89				
SLC4A4	8671	broad.mit.edu	37	4	72412192	72412192	+	Silent	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr4:72412192G>A	ENST00000264485.5	+	19	2685	c.2568G>A	c.(2566-2568)aaG>aaA	p.K856K	SLC4A4_ENST00000425175.1_Silent_p.K856K|SLC4A4_ENST00000340595.3_Silent_p.K812K|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	856				K -> R (in Ref. 4; AAG47773). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	ACAGTTTGAAGATGGAGACAG	0.483																																						uc003hfy.2		NA																	0				ovary(3)|kidney(1)|skin(1)	5						c.(2566-2568)AAG>AAA		solute carrier family 4, sodium bicarbonate							154.0	120.0	132.0					4																	72412192		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72412192G>A	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2568G>A	4.37:g.72412192G>A						SLC4A4_uc010iic.2_Silent_p.K856K|SLC4A4_uc010iib.2_Intron|SLC4A4_uc003hfz.2_Silent_p.K856K|SLC4A4_uc003hgc.3_Silent_p.K812K|SLC4A4_uc010iid.2_Silent_p.K60K	p.K856K	NM_001098484	NP_001091954	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		19	2685	+			856	K -> R (in Ref. 4; AAG47773).		Extracellular (Potential).		C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2568G>A	CCDS43236.1																																																																																				0.483	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		6	46	0	0	0	0	6	46				
LRBA	987	broad.mit.edu	37	4	151509256	151509256	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr4:151509256C>T	ENST00000357115.3	-	41	6550	c.6307G>A	c.(6307-6309)Gaa>Aaa	p.E2103K	LRBA_ENST00000535741.1_Missense_Mutation_p.E2092K|LRBA_ENST00000507224.1_Missense_Mutation_p.E2092K|LRBA_ENST00000510413.1_Missense_Mutation_p.E2092K	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2103						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAATAGAGTTCGGAGGAGGTG	0.463																																						uc010ipj.2		NA																	0				ovary(3)|breast(3)|skin(1)	7						c.(6307-6309)GAA>AAA		LPS-responsive vesicle trafficking, beach and							97.0	107.0	104.0					4																	151509256		2203	4299	6502	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151509256C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6307G>A	4.37:g.151509256C>T	ENSP00000349629:p.Glu2103Lys					LRBA_uc003ilt.3_Missense_Mutation_p.E751K|LRBA_uc003ilu.3_Missense_Mutation_p.E2092K	p.E2103K	NM_006726	NP_006717	P50851	LRBA_HUMAN			41	6781	-	all_hematologic(180;0.151)		2103					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.6307G>A	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871363	0.91587	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.58060	0.8;0.95;0.8;0.36	6.03	6.03	0.97812	PH-BEACH domain (1);	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.80183	2.485	0.80722	D	1	D;P	0.89917	1.0;0.82	D;B	0.74674	0.984;0.319	T	0.73350	-0.4010	10	0.42905	T	0.14	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	2103;2092	P50851;P50851-2	LRBA_HUMAN;.	K	2092;2092;2103;2092	ENSP00000446299:E2092K;ENSP00000421552:E2092K;ENSP00000349629:E2103K;ENSP00000422180:E2092K	ENSP00000349629:E2103K	E	-	1	0	LRBA	151728706	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.811000	0.86092	2.854000	0.98071	0.655000	0.94253	GAA		0.463	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			10	91	0	0	0	0	10	91				
SLC38A9	153129	broad.mit.edu	37	5	54922346	54922346	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:54922346G>T	ENST00000396865.2	-	16	2253	c.1662C>A	c.(1660-1662)aaC>aaA	p.N554K	SLC38A9_ENST00000512595.1_Missense_Mutation_p.N491K|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000318672.3_Missense_Mutation_p.N554K|SLC38A9_ENST00000515629.1_Missense_Mutation_p.N491K|SLC38A9_ENST00000416547.2_Missense_Mutation_p.N430K	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	554					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAACAATCAGGTTAGCCACGC	0.368																																						uc003jqf.2		NA																	0					0						c.(1660-1662)AAC>AAA		solute carrier family 38, member 9							119.0	113.0	115.0					5																	54922346		2203	4300	6503	SO:0001583	missense	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54922346G>T		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1662C>A	5.37:g.54922346G>T	ENSP00000380074:p.Asn554Lys					SLC38A9_uc003jqd.2_Missense_Mutation_p.N491K|SLC38A9_uc010ivx.2_Missense_Mutation_p.N491K|SLC38A9_uc003jqe.2_RNA|SLC38A9_uc010ivy.2_Missense_Mutation_p.N425K	p.N554K	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN			16	1863	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	554			Helical; (Potential).		B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Missense_Mutation	SNP	ENST00000396865.2	37	c.1662C>A	CCDS3968.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.381484	0.61845	.	.	ENSG00000177058	ENST00000396865;ENST00000318672;ENST00000515629;ENST00000416547;ENST00000512595	T;T;T;T;T	0.02258	4.37;4.37;4.37;4.37;4.37	4.68	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.10165	0.0249	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.08330	-1.0727	10	0.29301	T	0.29	-16.5885	8.2796	0.31892	0.25:0.0:0.75:0.0	.	491;554	B3KXV1;Q8NBW4	.;S38A9_HUMAN	K	554;554;491;430;491	ENSP00000380074:N554K;ENSP00000316596:N554K;ENSP00000420934:N491K;ENSP00000397429:N430K;ENSP00000427335:N491K	ENSP00000316596:N554K	N	-	3	2	SLC38A9	54958103	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.713000	0.47194	1.078000	0.41014	0.655000	0.94253	AAC		0.368	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	NM_173514		12	86	1	0	0.000978159	0.00124859	12	86				
DDX4	54514	broad.mit.edu	37	5	55110956	55110956	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:55110956C>T	ENST00000505374.1	+	20	2035	c.1943C>T	c.(1942-1944)tCg>tTg	p.S648L	DDX4_ENST00000354991.5_Missense_Mutation_p.S614L|DDX4_ENST00000511853.1_Missense_Mutation_p.S499L|DDX4_ENST00000514278.2_Missense_Mutation_p.S628L|DDX4_ENST00000353507.5_Missense_Mutation_p.S614L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	648	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GATCTTGAATCGGATAACCAT	0.358																																						uc003jqg.3		NA																	0				ovary(1)|skin(1)	2						c.(1942-1944)TCG>TTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 isoform							164.0	161.0	162.0					5																	55110956		2203	4300	6503	SO:0001583	missense	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55110956C>T	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.1943C>T	5.37:g.55110956C>T	ENSP00000424838:p.Ser648Leu					DDX4_uc010ivz.2_Missense_Mutation_p.S628L|DDX4_uc003jqh.3_Missense_Mutation_p.S614L|DDX4_uc003jqj.2_Missense_Mutation_p.S499L	p.S648L	NM_001136034	NP_001129506	Q9NQI0	DDX4_HUMAN			20	2017	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	648			Helicase C-terminal.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Missense_Mutation	SNP	ENST00000505374.1	37	c.1943C>T	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123697	0.20959	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000354991;ENST00000511853	D;D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26;-3.26	5.54	4.67	0.58626	Helicase, C-terminal (1);	0.290764	0.33419	N	0.004937	D	0.90813	0.7115	L	0.55017	1.72	0.20563	N	0.999886	B;B;B;D	0.55385	0.184;0.318;0.287;0.971	B;B;B;P	0.44359	0.103;0.048;0.103;0.447	D	0.84758	0.0760	10	0.48119	T	0.1	-6.356	9.3327	0.38032	0.1433:0.7841:0.0:0.0726	.	628;499;614;648	D6RDK4;E9PCD8;Q9NQI0-2;Q9NQI0	.;.;.;DDX4_HUMAN	L	614;628;648;614;499	ENSP00000334167:S614L;ENSP00000425359:S628L;ENSP00000424838:S648L;ENSP00000347087:S614L;ENSP00000423123:S499L	ENSP00000334167:S614L	S	+	2	0	DDX4	55146713	0.953000	0.32496	0.864000	0.33941	0.002000	0.02628	2.597000	0.46214	1.349000	0.45751	-0.258000	0.10820	TCG		0.358	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415		6	104	0	0	0	0	6	104				
HTR1A	3350	broad.mit.edu	37	5	63256816	63256816	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:63256816G>A	ENST00000323865.3	-	1	964	c.731C>T	c.(730-732)gCa>gTa	p.A244V	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	244				A -> AA (in Ref. 8; no nucleotide entry). {ECO:0000305}.	adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GGCGGGAGATGCTCCATGGCG	0.632																																						uc011cqt.1		NA																	0				ovary(2)|pancreas(2)	4						c.(730-732)GCA>GTA		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						55.0	58.0	57.0					5																	63256816		2202	4300	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256816G>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.731C>T	5.37:g.63256816G>A	ENSP00000316244:p.Ala244Val						p.A244V	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	731	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	244	A -> AA (in Ref. 8).		Cytoplasmic (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.731C>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	G	2.926	-0.222131	0.06061	.	.	ENSG00000178394	ENST00000323865	T	0.63913	-0.07	5.7	4.81	0.61882	GPCR, rhodopsin-like superfamily (1);	0.501179	0.18766	N	0.131745	T	0.28034	0.0691	N	0.00788	-1.185	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13953	-1.0490	10	0.27082	T	0.32	.	7.1005	0.25333	0.2763:0.0:0.7237:0.0	.	244	P08908	5HT1A_HUMAN	V	244	ENSP00000316244:A244V	ENSP00000316244:A244V	A	-	2	0	HTR1A	63292572	0.071000	0.21146	0.032000	0.17829	0.032000	0.12392	3.072000	0.50049	1.348000	0.45733	0.655000	0.94253	GCA		0.632	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		8	56	0	0	0	0	8	56				
PCSK1	5122	broad.mit.edu	37	5	95746485	95746485	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:95746485T>A	ENST00000311106.3	-	8	1325	c.1088A>T	c.(1087-1089)cAg>cTg	p.Q363L	PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.Q316L	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	363	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TACGATTCTCTGGTCGGTGTA	0.512																																						uc003kls.1		NA																	0				ovary(2)	2						c.(1087-1089)CAG>CTG		proprotein convertase subtilisin/kexin type 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						176.0	154.0	161.0					5																	95746485		2203	4300	6503	SO:0001583	missense	5122				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	g.chr5:95746485T>A		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.1088A>T	5.37:g.95746485T>A	ENSP00000308024:p.Gln363Leu					PCSK1_uc010jbi.1_Intron	p.Q363L	NM_000439	NP_000430	P29120	NEC1_HUMAN		all cancers(79;3.44e-16)	8	1294	-		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)	363			Catalytic.		B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	c.1088A>T	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.557494	0.86231	.	.	ENSG00000175426	ENST00000311106;ENST00000508626	D;D	0.87650	-2.28;-2.28	5.53	5.53	0.82687	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.91576	0.7339	L	0.60455	1.87	0.58432	D	0.999999	D	0.71674	0.998	D	0.72075	0.976	D	0.92196	0.5764	10	0.66056	D	0.02	-15.3316	13.8816	0.63686	0.0:0.0:0.0:1.0	.	363	P29120	NEC1_HUMAN	L	363;316	ENSP00000308024:Q363L;ENSP00000421600:Q316L	ENSP00000308024:Q363L	Q	-	2	0	PCSK1	95772241	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.979000	0.56888	2.089000	0.63090	0.477000	0.44152	CAG		0.512	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439		10	80	0	0	0	0	10	80				
KDM3B	51780	broad.mit.edu	37	5	137727180	137727180	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:137727180A>G	ENST00000314358.5	+	8	2059	c.1859A>G	c.(1858-1860)aAt>aGt	p.N620S	KDM3B_ENST00000394866.1_Missense_Mutation_p.N276S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	620					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AATCATGAAAATCTATTTTTA	0.507																																						uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(1858-1860)AAT>AGT		jumonji domain containing 1B							63.0	70.0	68.0					5																	137727180		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137727180A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.1859A>G	5.37:g.137727180A>G	ENSP00000326563:p.Asn620Ser					KDM3B_uc010jew.1_Missense_Mutation_p.N276S|KDM3B_uc011cys.1_Intron	p.N620S	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			8	2059	+			620					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.1859A>G	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	A	19.01	3.743834	0.69418	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866	T;T	0.63417	-0.04;-0.04	5.19	5.19	0.71726	.	0.216467	0.47093	D	0.000243	T	0.68458	0.3003	L	0.32530	0.975	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73380	0.98;0.978	T	0.65393	-0.6179	10	0.25751	T	0.34	-2.1738	15.0531	0.71891	1.0:0.0:0.0:0.0	.	276;620	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	S	620;410;276	ENSP00000326563:N620S;ENSP00000378335:N276S	ENSP00000326563:N620S	N	+	2	0	KDM3B	137755079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.420000	0.90256	1.959000	0.56917	0.533000	0.62120	AAT		0.507	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		13	104	0	0	0	0	13	104				
PCDHGB3	56102	broad.mit.edu	37	5	140751490	140751490	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:140751490G>A	ENST00000576222.1	+	1	1660	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGGAGCGGGGTG	0.667																																						uc003ljw.1		NA																	0					0						c.(1528-1530)CGG>CAG		protocadherin gamma subfamily B, 3 isoform 1							49.0	53.0	52.0					5																	140751490		2080	4226	6306	SO:0001583	missense	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751490G>A	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.1529G>A	5.37:g.140751490G>A	ENSP00000461862:p.Arg510Gln					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Missense_Mutation_p.R510Q|PCDHGA6_uc011dau.1_5'Flank	p.R510Q	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1529	+			510			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	37	c.1529G>A	CCDS58980.1																																																																																				0.667	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		10	50	0	0	0	0	10	50				
FAM193B	54540	broad.mit.edu	37	5	176951739	176951739	+	Silent	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr5:176951739G>A	ENST00000514747.1	-	6	1791	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	FAM193B_ENST00000329540.5_Silent_p.N207N|FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000443375.2_Silent_p.N548N	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	661						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TCACGAGCCCGTTCTCGGGGA	0.652																																						uc003mhs.3		NA																	0					0						c.(1642-1644)AAC>AAT		hypothetical protein LOC54540							16.0	17.0	17.0					5																	176951739		1877	4105	5982	SO:0001819	synonymous_variant	54540							g.chr5:176951739G>A		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1743C>T	5.37:g.176951739G>A						FAM193B_uc003mhr.2_Silent_p.N85N|FAM193B_uc003mht.2_Silent_p.N207N|FAM193B_uc003mhu.2_Silent_p.N260N|FAM193B_uc003mhv.2_Silent_p.N207N|FAM193B_uc003mhw.2_RNA	p.N548N	NM_019057	NP_061930	E9PET5	E9PET5_HUMAN			8	3233	-			581					E9PET5|Q9NW00	Silent	SNP	ENST00000514747.1	37	c.1644C>T	CCDS54954.1	.	.	.	.	.	.	.	.	.	.	G	6.134	0.392991	0.11638	.	.	ENSG00000146067	ENST00000524677	.	.	.	5.75	-4.1	0.03940	.	.	.	.	.	T	0.63224	0.2493	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61642	-0.7021	4	.	.	.	-17.8094	14.3621	0.66779	0.5063:0.0:0.4937:0.0	.	.	.	.	W	267	.	.	R	-	1	2	FAM193B	176884345	0.998000	0.40836	0.896000	0.35187	0.689000	0.40095	0.342000	0.19926	-1.069000	0.03153	-0.258000	0.10820	CGG		0.652	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373121.1	NM_019057		4	8	0	0	0	0	4	8				
HIST1H2BM	8342	broad.mit.edu	37	6	27783137	27783137	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:27783137G>A	ENST00000359465.4	+	1	316	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	106					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GCTACCCGGGGAATTGGCCAA	0.622																																						uc003njo.2		NA																	0				large_intestine(1)	1						c.(316-318)GAA>AAA		histone cluster 1, H2bm							59.0	62.0	61.0					6																	27783137		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783137G>A	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.316G>A	6.37:g.27783137G>A	ENSP00000352442:p.Glu106Lys					HIST1H2AJ_uc003njn.1_5'Flank	p.E106K	NM_003521	NP_003512	Q99879	H2B1M_HUMAN			1	316	+			106					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.316G>A	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	12.25	1.881579	0.33255	.	.	ENSG00000196374	ENST00000359465	T	0.78126	-1.15	4.34	4.34	0.51931	Histone-fold (2);	0.000000	0.56097	U	0.000021	T	0.78641	0.4315	M	0.93106	3.38	0.80722	D	1	B	0.19817	0.039	B	0.22386	0.039	T	0.82283	-0.0534	10	0.87932	D	0	.	16.3606	0.83263	0.0:0.0:1.0:0.0	.	106	Q99879	H2B1M_HUMAN	K	106	ENSP00000352442:E106K	ENSP00000352442:E106K	E	+	1	0	HIST1H2BM	27891116	1.000000	0.71417	0.999000	0.59377	0.109000	0.19521	7.242000	0.78210	2.391000	0.81399	0.563000	0.77884	GAA		0.622	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		7	60	0	0	0	0	7	60				
TRIM27	5987	broad.mit.edu	37	6	28871857	28871857	+	Missense_Mutation	SNP	G	G	C			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:28871857G>C	ENST00000377199.3	-	8	1888	c.1532C>G	c.(1531-1533)aCc>aGc	p.T511S	TRIM27_ENST00000377194.3_3'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	511					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCAAGGGGAGGTCTCCATGGA	0.537			T	RET	papillary thyroid																																	uc003nlr.2		NA		Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				ovary(1)	1						c.(1531-1533)ACC>AGC		ret finger protein							87.0	94.0	92.0					6																	28871857		1507	2709	4216	SO:0001583	missense	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28871857G>C	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1532C>G	6.37:g.28871857G>C	ENSP00000366404:p.Thr511Ser					TRIM27_uc003nls.2_3'UTR|TRIM27_uc003nlt.1_3'UTR	p.T511S	NM_006510	NP_006501	P14373	TRI27_HUMAN			8	1891	-			511					A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	SNP	ENST00000377199.3	37	c.1532C>G	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.84|12.84	2.060012|2.060012	0.36373|0.36373	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199	.|T	.|0.53206	.|0.63	4.23|4.23	4.23|4.23	0.50019|0.50019	.|.	.|0.000000	.|0.56097	.|D	.|0.000033	T|T	0.20618|0.20618	0.0496|0.0496	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D	.|0.53151	.|0.958	.|P	.|0.46629	.|0.522	T|T	0.11446|0.11446	-1.0587|-1.0587	5|10	.|0.87932	.|D	.|0	.|.	10.4237|10.4237	0.44365|0.44365	0.0:0.198:0.802:0.0|0.0:0.198:0.802:0.0	.|.	.|511	.|P14373	.|TRI27_HUMAN	E|S	245|511	.|ENSP00000366404:T511S	.|ENSP00000366404:T511S	D|T	-|-	3|2	2|0	TRIM27|TRIM27	28979836|28979836	0.004000|0.004000	0.15560|0.15560	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.391000|1.391000	0.34475|0.34475	2.633000|2.633000	0.89246|0.89246	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.537	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		9	60	0	0	0	0	9	60				
VARS2	57176	broad.mit.edu	37	6	30888896	30888896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:30888896C>T	ENST00000321897.5	+	15	2166	c.1534C>T	c.(1534-1536)Cag>Tag	p.Q512*	VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000541562.1_Nonsense_Mutation_p.Q542*|VARS2_ENST00000416670.2_Nonsense_Mutation_p.Q512*|VARS2_ENST00000542001.1_Nonsense_Mutation_p.Q372*			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	512					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GAAGAACTGGCAGCACTGGTT	0.557																																						uc003nsc.1		NA																	0				ovary(3)|central_nervous_system(1)	4						c.(1534-1536)CAG>TAG		valyl-tRNA synthetase 2, mitochondrial							48.0	47.0	48.0					6																	30888896		2203	4300	6503	SO:0001587	stop_gained	57176				valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity	g.chr6:30888896C>T	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.1534C>T	6.37:g.30888896C>T	ENSP00000316092:p.Gln512*					VARS2_uc011dmx.1_Nonsense_Mutation_p.Q512*|VARS2_uc011dmy.1_Nonsense_Mutation_p.Q372*|VARS2_uc011dmz.1_Nonsense_Mutation_p.Q542*|VARS2_uc011dna.1_Nonsense_Mutation_p.Q510*|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank	p.Q512*	NM_020442	NP_065175	Q5ST30	SYVM_HUMAN			15	2166	+			512					A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Nonsense_Mutation	SNP	ENST00000321897.5	37	c.1534C>T	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	C	44	11.186925	0.99528	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000542001;ENST00000541562	.	.	.	5.11	4.18	0.49190	.	0.347201	0.32015	N	0.006709	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-16.3915	10.3704	0.44051	0.3096:0.6904:0.0:0.0	.	.	.	.	X	512;512;372;542	.	ENSP00000316092:Q512X	Q	+	1	0	VARS2	30996875	0.999000	0.42202	1.000000	0.80357	0.876000	0.50452	1.004000	0.29822	2.552000	0.86080	0.561000	0.74099	CAG		0.557	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442		6	45	0	0	0	0	6	45				
HLA-B	3106	broad.mit.edu	37	6	31324908	31324908	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:31324908G>T	ENST00000412585.2	-	1	56	c.28C>A	c.(28-30)Ctc>Atc	p.L10I		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	10					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						AGCAGCAGGAGGACGGTTCGG	0.697									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													uc003nth.2		NA																	0					0						c.(28-30)CTC>ATC		major histocompatibility complex, class I, B							13.0	12.0	12.0					6																	31324908		2102	4071	6173	SO:0001583	missense	3106	Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of	Familial Cancer Database	;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:31324908G>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.28C>A	6.37:g.31324908G>T	ENSP00000399168:p.Leu10Ile					HLA-C_uc003ntb.2_5'Flank|HLA-C_uc003ntc.1_5'Flank|HLA-B_uc010jsm.1_5'Flank|HLA-B_uc011dnk.1_5'Flank|HLA-B_uc003ntf.2_Missense_Mutation_p.L10I|HLA-B_uc003ntg.1_5'Flank|HLA-B_uc003nti.1_5'Flank|HLA-B_uc010jsn.1_5'Flank|HLA-B_uc010jso.2_5'Flank	p.L10I	NM_005514	NP_005505	P01889	1B07_HUMAN			1	82	-			10					Q29764	Missense_Mutation	SNP	ENST00000412585.2	37	c.28C>A	CCDS34394.1	.	.	.	.	.	.	.	.	.	.	N	13.53	2.265140	0.40095	.	.	ENSG00000234745	ENST00000412585	T	0.00675	5.88	2.81	2.81	0.32909	.	0.511841	0.12270	U	0.483927	T	0.00998	0.0033	M	0.90759	3.145	0.09310	N	1	B	0.33120	0.398	B	0.39339	0.297	T	0.28586	-1.0039	10	0.52906	T	0.07	.	9.3159	0.37934	0.0:0.0:1.0:0.0	.	10	P01889	1B07_HUMAN	I	10	ENSP00000399168:L10I	ENSP00000399168:L10I	L	-	1	0	HLA-B	31432887	0.001000	0.12720	0.028000	0.17463	0.142000	0.21351	0.316000	0.19469	1.887000	0.54652	0.442000	0.29010	CTC		0.697	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514		4	10	1	0	0.000602214	0.00077786	4	10				
SLC44A4	80736	broad.mit.edu	37	6	31832499	31832499	+	Silent	SNP	C	C	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:31832499C>A	ENST00000229729.6	-	20	1961	c.1941G>T	c.(1939-1941)ggG>ggT	p.G647G	SLC44A4_ENST00000544672.1_Silent_p.G571G|NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Silent_p.G605G	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	647					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	TGACATAGGCCCCCAGGATGG	0.597																																						uc010jti.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(1939-1941)GGG>GGT		choline transporter-like protein 4	Choline(DB00122)						88.0	94.0	92.0					6																	31832499		1511	2709	4220	SO:0001819	synonymous_variant	80736					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr6:31832499C>A	AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.1941G>T	6.37:g.31832499C>A						NEU1_uc003nxq.3_5'Flank|NEU1_uc010jtg.2_5'Flank|NEU1_uc003nxr.3_5'Flank|NEU1_uc010jth.2_5'Flank|NEU1_uc003nxs.3_5'Flank	p.G647G	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN			20	2007	-			647			Helical; (Potential).		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Silent	SNP	ENST00000229729.6	37	c.1941G>T	CCDS4724.2																																																																																				0.597	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076234.3			7	79	1	0	8.13e-05	0.000108878	7	79				
DNAH8	1769	broad.mit.edu	37	6	38840791	38840791	+	Silent	SNP	C	C	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:38840791C>T	ENST00000359357.3	+	49	6950	c.6696C>T	c.(6694-6696)cgC>cgT	p.R2232R	DNAH8_ENST00000441566.1_Silent_p.R2196R|DNAH8_ENST00000449981.2_Silent_p.R2449R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2232	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGGAGATCGCATTCCCATGG	0.443																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6694-6696)CGC>CGT		dynein, axonemal, heavy polypeptide 8							111.0	112.0	112.0					6																	38840791		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38840791C>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.6696C>T	6.37:g.38840791C>T							p.R2232R	NM_001371	NP_001362					49	7296	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.6696C>T																																																																																					0.443	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		12	82	0	0	0	0	12	82				
UFL1	23376	broad.mit.edu	37	6	96971059	96971059	+	Silent	SNP	T	T	C			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:96971059T>C	ENST00000369278.4	+	2	181	c.115T>C	c.(115-117)Ttg>Ctg	p.L39L	UFL1-AS1_ENST00000430796.1_RNA	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	39	Required for E3 UFM1-protein ligase activity.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TGTTAATAAATTGATTGCTCA	0.368																																						uc003por.2		NA																	0				ovary(1)	1						c.(115-117)TTG>CTG		hypothetical protein LOC23376							123.0	124.0	124.0					6																	96971059		2203	4300	6503	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96971059T>C	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.115T>C	6.37:g.96971059T>C						KIAA0776_uc010kck.2_RNA	p.L39L	NM_015323	NP_056138	O94874	UFL1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0934)	2	163	+		all_cancers(76;5.83e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0604)|Colorectal(196;0.0721)	39			Required for E3 UFM1-protein ligase activity.		A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.115T>C	CCDS5034.1																																																																																				0.368	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		5	88	0	0	0	0	5	88				
HEY2	23493	broad.mit.edu	37	6	126080842	126080842	+	Missense_Mutation	SNP	T	T	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:126080842T>G	ENST00000368364.3	+	5	1105	c.908T>G	c.(907-909)aTc>aGc	p.I303S	HEY2_ENST00000368365.1_Missense_Mutation_p.I257S	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	303					anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GCCACAGCCATCAGCCCGCCC	0.622																																						uc003qad.2		NA																	0				breast(1)	1						c.(907-909)ATC>AGC		hairy/enhancer-of-split related with YRPW motif							61.0	71.0	68.0					6																	126080842		2203	4300	6503	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080842T>G	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.908T>G	6.37:g.126080842T>G	ENSP00000357348:p.Ile303Ser					HEY2_uc011ebr.1_Missense_Mutation_p.I257S	p.I303S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1099	+			303						Missense_Mutation	SNP	ENST00000368364.3	37	c.908T>G	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	T	14.04	2.416892	0.42918	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59224	0.28;0.28	5.43	5.43	0.79202	.	0.876767	0.09985	N	0.730453	T	0.26738	0.0654	N	0.14661	0.345	0.46149	D	0.998896	B	0.14438	0.01	B	0.17722	0.019	T	0.04115	-1.0976	10	0.21014	T	0.42	-17.4307	15.4856	0.75564	0.0:0.0:0.0:1.0	.	303	Q9UBP5	HEY2_HUMAN	S	257;303	ENSP00000357349:I257S;ENSP00000357348:I303S	ENSP00000357348:I303S	I	+	2	0	HEY2	126122535	0.956000	0.32656	0.774000	0.31636	0.853000	0.48598	1.915000	0.39976	2.055000	0.61198	0.459000	0.35465	ATC		0.622	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1			10	106	0	0	0	0	10	106				
FAM49B	51571	broad.mit.edu	37	8	130874554	130874554	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr8:130874554C>G	ENST00000519824.2	-	5	495	c.222G>C	c.(220-222)aaG>aaC	p.K74N	FAM49B_ENST00000519110.1_Missense_Mutation_p.K74N|FAM49B_ENST00000517654.1_Missense_Mutation_p.K74N|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519540.1_Missense_Mutation_p.K74N|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000522746.1_Missense_Mutation_p.K74N|FAM49B_ENST00000523509.1_Missense_Mutation_p.K74N|FAM49B_ENST00000401979.2_Missense_Mutation_p.K74N	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	74						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TCTCTTGCAACTTCTCATCTG	0.328																																						uc003yss.2		NA																	0					0						c.(220-222)AAG>AAC		hypothetical protein LOC51571							103.0	103.0	103.0					8																	130874554		2203	4300	6503	SO:0001583	missense	51571							g.chr8:130874554C>G	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.222G>C	8.37:g.130874554C>G	ENSP00000429150:p.Lys74Asn					FAM49B_uc003yst.2_Missense_Mutation_p.K74N|FAM49B_uc003ysu.2_Missense_Mutation_p.K74N|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Missense_Mutation_p.K74N|FAM49B_uc003ysx.2_Missense_Mutation_p.K74N|FAM49B_uc003ysy.1_Missense_Mutation_p.K74N	p.K74N	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		8	771	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		74					Q96AZ5|Q9NW21|Q9NZE7	Missense_Mutation	SNP	ENST00000519824.2	37	c.222G>C	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.406757	0.25378	.	.	ENSG00000153310	ENST00000522746;ENST00000523509;ENST00000401979;ENST00000519110;ENST00000519824;ENST00000517654;ENST00000519540;ENST00000311292;ENST00000519142;ENST00000520204;ENST00000518283;ENST00000523993;ENST00000520254	T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.56	4.68	0.58851	.	0.094899	0.64402	D	0.000001	T	0.30135	0.0755	L	0.27053	0.805	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.06661	-1.0814	10	0.35671	T	0.21	-20.8587	11.5299	0.50601	0.0:0.8512:0.0:0.1488	.	74	Q9NUQ9	FA49B_HUMAN	N	74;74;74;74;74;74;74;30;74;74;74;74;74	ENSP00000428117:K74N;ENSP00000429802:K74N;ENSP00000384880:K74N;ENSP00000429078:K74N;ENSP00000429150:K74N;ENSP00000430674:K74N;ENSP00000429499:K74N;ENSP00000430806:K74N;ENSP00000429051:K74N;ENSP00000430694:K74N;ENSP00000429074:K74N;ENSP00000430127:K74N	ENSP00000311651:K30N	K	-	3	2	FAM49B	130943736	0.870000	0.30015	1.000000	0.80357	0.986000	0.74619	0.124000	0.15728	1.486000	0.48398	0.591000	0.81541	AAG		0.328	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		8	87	0	0	0	0	8	87				
PAX5	5079	broad.mit.edu	37	9	37015073	37015073	+	Missense_Mutation	SNP	C	C	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr9:37015073C>A	ENST00000358127.4	-	3	405	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	PAX5_ENST00000523241.1_Missense_Mutation_p.A111S|PAX5_ENST00000414447.1_Missense_Mutation_p.A111S|PAX5_ENST00000520281.1_Missense_Mutation_p.A111S|PAX5_ENST00000523145.1_Missense_Mutation_p.A3S|PAX5_ENST00000377853.2_Missense_Mutation_p.A111S|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.A3S|PAX5_ENST00000377847.2_Missense_Mutation_p.A111S|PAX5_ENST00000520154.1_Missense_Mutation_p.A111S|PAX5_ENST00000377852.2_Missense_Mutation_p.A111S	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	111	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		ATCTCCCAGGCAAACATGGTG	0.547			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1		NA		Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	42	Unknown(42)	p.?(32)	haematopoietic_and_lymphoid_tissue(42)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(331-333)GCC>TCC		paired box 5							221.0	215.0	217.0					9																	37015073		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:37015073C>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.331G>T	9.37:g.37015073C>A	ENSP00000350844:p.Ala111Ser					PAX5_uc011lpw.1_Missense_Mutation_p.A111S|PAX5_uc011lpx.1_Intron|PAX5_uc011lpy.1_Missense_Mutation_p.A3S|PAX5_uc010mls.1_Missense_Mutation_p.A111S|PAX5_uc011lpz.1_Missense_Mutation_p.A111S|PAX5_uc011lqa.1_Missense_Mutation_p.A3S|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.A111S|PAX5_uc010mlp.1_Missense_Mutation_p.A111S|PAX5_uc011lqc.1_Missense_Mutation_p.A111S|PAX5_uc010mlr.1_Missense_Mutation_p.A111S|PAX5_uc011lqd.1_Intron|PAX5_uc011lqe.1_RNA|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_RNA	p.A111S	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	3	779	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	111			Paired.		A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.331G>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	C	33	5.215401	0.95104	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377853;ENST00000377852;ENST00000523241;ENST00000520154;ENST00000520281;ENST00000522003;ENST00000523145;ENST00000414447;ENST00000377847	D;D;D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.68	5.68	0.88126	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.057481	0.64402	D	0.000002	D	0.99239	0.9735	M	0.62088	1.915	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.981;0.999;0.981;1.0;1.0;0.981;0.981;0.981	D;D;D;D;D;D;D;D	0.97110	0.991;0.999;0.991;1.0;1.0;0.991;0.991;0.991	D	0.99902	1.1164	10	0.26408	T	0.33	.	19.8396	0.96677	0.0:1.0:0.0:0.0	.	111;111;111;111;111;111;111;111	C0KTF8;C0KTF7;C0KTF6;E7ERW5;E7EQT0;Q6S730;Q6S731;Q02548	.;.;.;.;.;.;.;PAX5_HUMAN	S	111;3;111;111;111;111;111;3;3;111;111	ENSP00000350844:A111S;ENSP00000367084:A111S;ENSP00000367083:A111S;ENSP00000429637:A111S;ENSP00000429291:A111S;ENSP00000430773:A111S;ENSP00000429359:A3S;ENSP00000429197:A3S;ENSP00000412188:A111S;ENSP00000367078:A111S	ENSP00000350844:A111S	A	-	1	0	PAX5	37005073	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.690000	0.91761	0.650000	0.86243	GCC		0.547	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			8	179	1	0	0.00448238	0.0056551	8	179				
CCDC180	100499483	broad.mit.edu	37	9	100127991	100127991	+	Missense_Mutation	SNP	G	G	T			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr9:100127991G>T	ENST00000357054.1	+	42	4919	c.3984G>T	c.(3982-3984)gaG>gaT	p.E1328D	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000529487.1_Missense_Mutation_p.E1383D|CCDC180_ENST00000375202.2_Missense_Mutation_p.E1383D|CCDC180_ENST00000395220.1_3'UTR|MIR1302-8_ENST00000408342.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1328						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TCCTCTGGGAGAGCAGTGAGA	0.562																																						uc011lut.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(4564-4566)GAG>GAT		hypothetical protein LOC57653							143.0	136.0	138.0					9																	100127991		2203	4300	6503	SO:0001583	missense	57653							g.chr9:100127991G>T	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.3984G>T	9.37:g.100127991G>T	ENSP00000349562:p.Glu1328Asp					KIAA1529_uc004axe.1_Missense_Mutation_p.E1328D|KIAA1529_uc004axg.1_Missense_Mutation_p.E1383D|KIAA1529_uc004axh.1_RNA|KIAA1529_uc011luw.1_Missense_Mutation_p.E476D|MIR1302-8_hsa-mir-1302-8|MI0006369_5'Flank	p.E1522D	NM_020893	NP_065944					42	5339	+		Acute lymphoblastic leukemia(62;0.154)						Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4566G>T		.	.	.	.	.	.	.	.	.	.	G	8.150	0.787148	0.16189	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.10192	2.94;2.9;2.9	4.73	-2.4	0.06583	.	0.560169	0.19526	N	0.112177	T	0.09598	0.0236	M	0.64997	1.995	0.80722	D	1	B;P	0.37731	0.119;0.607	B;B	0.41764	0.067;0.366	T	0.35301	-0.9794	10	0.17369	T	0.5	-2.8736	2.3887	0.04372	0.2303:0.2266:0.4279:0.1153	.	1522;1328	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	D	1328;1383;1383	ENSP00000349562:E1328D;ENSP00000364348:E1383D;ENSP00000434727:E1383D	ENSP00000349562:E1328D	E	+	3	2	C9orf174	99167812	0.595000	0.26857	0.693000	0.30195	0.082000	0.17680	-0.783000	0.04638	-0.904000	0.03876	-1.119000	0.02030	GAG		0.562	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		16	54	1	0	2e-07	2.78e-07	16	54				
SCML1	6322	broad.mit.edu	37	X	17768243	17768243	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:17768243C>G	ENST00000380041.3	+	6	861	c.533C>G	c.(532-534)aCt>aGt	p.T178S	SCML1_ENST00000380045.3_Missense_Mutation_p.T57S|SCML1_ENST00000398080.1_Missense_Mutation_p.T57S|SCML1_ENST00000380043.3_Missense_Mutation_p.T151S	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	178					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					CTCAGCCGCACTCCGAGTCCA	0.522																																						uc004cyb.2		NA																	0				breast(2)|ovary(1)	3						c.(532-534)ACT>AGT		sex comb on midleg-like 1 isoform a							116.0	102.0	107.0					X																	17768243		2203	4300	6503	SO:0001583	missense	6322				anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:17768243C>G		CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.533C>G	X.37:g.17768243C>G	ENSP00000369380:p.Thr178Ser					SCML1_uc004cyc.2_Missense_Mutation_p.T151S|SCML1_uc004cyd.2_Missense_Mutation_p.T57S|SCML1_uc004cye.2_Missense_Mutation_p.T57S	p.T178S	NM_001037540	NP_001032629	Q9UN30	SCML1_HUMAN			6	858	+	Hepatocellular(33;0.183)		178					B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	ENST00000380041.3	37	c.533C>G	CCDS35210.1	.	.	.	.	.	.	.	.	.	.	C	0.764	-0.768182	0.02974	.	.	ENSG00000047634	ENST00000380045;ENST00000380041;ENST00000380043;ENST00000398080	.	.	.	2.61	-5.23	0.02798	.	1.616870	0.03586	N	0.230964	T	0.08582	0.0213	N	0.02247	-0.625	0.09310	N	1	B;B	0.16396	0.017;0.01	B;B	0.12837	0.008;0.004	T	0.16424	-1.0403	9	0.06757	T	0.87	.	0.419	0.00453	0.3566:0.1488:0.1471:0.3475	.	151;178	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	S	57;178;151;57	.	ENSP00000369380:T178S	T	+	2	0	SCML1	17678164	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.949000	0.03893	-2.677000	0.00410	-1.021000	0.02439	ACT		0.522	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060495.5	NM_006746		16	71	0	0	0	0	16	71				
BRWD3	254065	broad.mit.edu	37	X	79932674	79932674	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:79932674A>G	ENST00000373275.4	-	41	5059	c.4843T>C	c.(4843-4845)Tct>Cct	p.S1615P	BRWD3_ENST00000473691.1_5'Flank	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1615					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GTACTTTCAGAACTTAAACTG	0.373																																						uc004edt.2		NA																	0				ovary(4)	4						c.(4843-4845)TCT>CCT		bromodomain and WD repeat domain containing 3							146.0	131.0	136.0					X																	79932674		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79932674A>G		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.4843T>C	X.37:g.79932674A>G	ENSP00000362372:p.Ser1615Pro					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.S1211P|BRWD3_uc004edp.2_Missense_Mutation_p.S1444P|BRWD3_uc004edq.2_Missense_Mutation_p.S1211P|BRWD3_uc010nmj.1_Missense_Mutation_p.S1211P|BRWD3_uc004edr.2_Missense_Mutation_p.S1285P|BRWD3_uc004eds.2_Missense_Mutation_p.S1211P|BRWD3_uc004edu.2_Missense_Mutation_p.S1285P|BRWD3_uc004edv.2_Missense_Mutation_p.S1211P|BRWD3_uc004edw.2_Missense_Mutation_p.S1211P|BRWD3_uc004edx.2_Missense_Mutation_p.S1211P|BRWD3_uc004edy.2_Missense_Mutation_p.S1211P|BRWD3_uc004edz.2_Missense_Mutation_p.S1285P|BRWD3_uc004eea.2_Missense_Mutation_p.S1285P|BRWD3_uc004eeb.2_Missense_Mutation_p.S1211P|uc004edn.1_5'Flank	p.S1615P	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			41	5106	-			1615					C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.4843T>C	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250386	0.22880	.	.	ENSG00000165288	ENST00000373275	T	0.75589	-0.95	4.43	4.43	0.53597	.	0.000000	0.64402	D	0.000001	T	0.75488	0.3856	N	0.22421	0.69	0.46336	D	0.998997	D	0.65815	0.995	D	0.70487	0.969	T	0.74247	-0.3727	9	.	.	.	-7.9447	13.0073	0.58712	1.0:0.0:0.0:0.0	.	1615	Q6RI45	BRWD3_HUMAN	P	1615	ENSP00000362372:S1615P	.	S	-	1	0	BRWD3	79819330	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.117000	0.71577	1.639000	0.50556	0.412000	0.27726	TCT		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		5	136	0	0	0	0	5	136				
PCDH11X	27328	broad.mit.edu	37	X	91132437	91132437	+	Missense_Mutation	SNP	A	A	G			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:91132437A>G	ENST00000373094.1	+	2	2043	c.1198A>G	c.(1198-1200)Aca>Gca	p.T400A	PCDH11X_ENST00000361655.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T400A|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T400A|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T400A|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T400A	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	400	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACATGCTTCACAGATCATGA	0.418																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1		NA																	0				large_intestine(2)	2						c.(1198-1200)ACA>GCA		protocadherin 11 X-linked isoform c							163.0	135.0	144.0					X																	91132437		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132437A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1198A>G	X.37:g.91132437A>G	ENSP00000362186:p.Thr400Ala					PCDH11X_uc004efl.1_Missense_Mutation_p.T400A|PCDH11X_uc004efo.1_Missense_Mutation_p.T400A|PCDH11X_uc010nmv.1_Missense_Mutation_p.T400A|PCDH11X_uc004efm.1_Missense_Mutation_p.T400A|PCDH11X_uc004efn.1_Missense_Mutation_p.T400A|PCDH11X_uc004efh.1_Missense_Mutation_p.T400A|PCDH11X_uc004efj.1_Missense_Mutation_p.T400A	p.T400A	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	2043	+			400			Cadherin 4.|Extracellular (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1198A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	12.28	1.890762	0.33348	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.16	5.16	0.70880	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60340	0.2261	L	0.47716	1.5	0.51233	D	0.999911	D;P;D;D;D;D;D;D	0.69078	0.996;0.923;0.996;0.996;0.996;0.997;0.996;0.982	P;P;D;D;D;D;P;P	0.68621	0.907;0.774;0.931;0.931;0.931;0.959;0.907;0.84	T	0.63427	-0.6640	10	0.72032	D	0.01	.	13.1413	0.59436	1.0:0.0:0.0:0.0	.	400;400;400;400;400;400;400;400	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	A	400	ENSP00000378746:T400A;ENSP00000362186:T400A;ENSP00000362189:T400A;ENSP00000355040:T400A;ENSP00000362180:T400A;ENSP00000423762:T400A;ENSP00000355105:T400A;ENSP00000384758:T400A;ENSP00000298274:T400A	ENSP00000298274:T400A	T	+	1	0	PCDH11X	91019093	1.000000	0.71417	0.998000	0.56505	0.143000	0.21401	8.999000	0.93557	1.695000	0.51148	0.441000	0.28932	ACA		0.418	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		9	121	0	0	0	0	9	121				
GPR112	139378	broad.mit.edu	37	X	135405364	135405364	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:135405364T>A	ENST00000394143.1	+	5	789	c.498T>A	c.(496-498)aaT>aaA	p.N166K	GPR112_ENST00000287534.4_Missense_Mutation_p.N103K|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.N166K|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	166					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCTCAAGAATGAGAGCAGCG	0.448																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(496-498)AAT>AAA		G-protein coupled receptor 112							171.0	150.0	157.0					X																	135405364		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135405364T>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.498T>A	X.37:g.135405364T>A	ENSP00000377699:p.Asn166Lys					GPR112_uc010nsb.1_Intron	p.N166K	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			5	789	+	Acute lymphoblastic leukemia(192;0.000127)		166			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.498T>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	T	8.562	0.878049	0.17395	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000287534	T;T;T	0.63913	3.28;3.28;-0.07	5.1	-1.77	0.07982	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	.	.	.	.	T	0.46034	0.1372	L	0.48642	1.525	0.09310	N	1	B	0.32862	0.387	B	0.31016	0.123	T	0.28650	-1.0037	9	0.30854	T	0.27	.	4.0046	0.09595	0.2828:0.3493:0.0:0.3679	.	166	Q8IZF6	GP112_HUMAN	K	166;166;103	ENSP00000377699:N166K;ENSP00000359686:N166K;ENSP00000287534:N103K	ENSP00000287534:N103K	N	+	3	2	GPR112	135233030	0.000000	0.05858	0.003000	0.11579	0.383000	0.30230	-1.443000	0.02405	-0.308000	0.08792	0.417000	0.27973	AAT		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			7	129	0	0	0	0	7	129				
FLNA	2316	broad.mit.edu	37	X	153594747	153594747	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chrX:153594747G>A	ENST00000369850.3	-	8	1393	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V	FLNA_ENST00000422373.1_Missense_Mutation_p.A386V|FLNA_ENST00000360319.4_Missense_Mutation_p.A386V|FLNA_ENST00000344736.4_Missense_Mutation_p.A386V	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	386					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	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)					GGGACCTTGGGCTGTCACTTT	0.597																																						uc004fkk.2		NA																	0				breast(6)	6						c.(1156-1158)GCC>GTC		filamin A, alpha isoform 2							74.0	75.0	75.0					X																	153594747		2132	4237	6369	SO:0001583	missense	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153594747G>A	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.1157C>T	X.37:g.153594747G>A	ENSP00000358866:p.Ala386Val					FLNA_uc010nuu.1_Missense_Mutation_p.A386V	p.A386V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			8	1406	-	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)		386			Filamin 2.		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	c.1157C>T	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.475987	0.26511	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33	4.71	4.71	0.59529	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.91002	0.7170	L	0.46567	1.45	0.80722	D	1	P;D	0.69078	0.489;0.997	B;D	0.70935	0.139;0.971	D	0.91991	0.5603	10	0.62326	D	0.03	.	16.9731	0.86305	0.0:0.0:1.0:0.0	.	386;386	P21333-2;P21333	.;FLNA_HUMAN	V	386;359;386;386;386	ENSP00000353467:A386V;ENSP00000416926:A386V;ENSP00000358866:A386V;ENSP00000358863:A386V	ENSP00000358863:A386V	A	-	2	0	FLNA	153247941	1.000000	0.71417	0.977000	0.42913	0.133000	0.20885	9.857000	0.99534	1.926000	0.55796	0.464000	0.42555	GCC		0.597	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3			7	58	0	0	0	0	7	58				
ABCC3	8714	broad.mit.edu	37	17	48761081	48761082	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr17:48761081_48761082delGA	ENST00000285238.8	+	27	3998_3999	c.3918_3919delGA	c.(3916-3921)ctgagafs	p.R1307fs		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1307	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ACCTGGTGCTGAGAGACCTGAG	0.644																																						uc002isl.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.(3916-3921)CTGAGAfs		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)																																			SO:0001589	frameshift_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48761081_48761082delGA	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.3918_3919delGA	17.37:g.48761085_48761086delGA	ENSP00000285238:p.Arg1307fs					ABCC3_uc002isn.2_Frame_Shift_Del_p.L60fs	p.L1306fs	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		27	3998_3999	+			1306_1307			Cytoplasmic (By similarity).|ABC transporter 2.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Frame_Shift_Del	DEL	ENST00000285238.8	37	c.3918_3919delGA	CCDS32681.1																																																																																				0.644	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		15	77	NA	NA	NA	NA	15	77	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38816439	38816440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr6:38816439_38816440insA	ENST00000359357.3	+	35	4664_4665	c.4410_4411insA	c.(4411-4413)aaafs	p.K1471fs	DNAH8_ENST00000441566.1_Frame_Shift_Ins_p.K1471fs|DNAH8_ENST00000449981.2_Frame_Shift_Ins_p.K1688fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1471					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATGCTCCATTTAAAAAAAATAT	0.342																																						uc003ooe.1		NA																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4408-4413)TTTAAAfs		dynein, axonemal, heavy polypeptide 8																																				SO:0001589	frameshift_variant	1769							g.chr6:38816439_38816440insA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4418dupA	6.37:g.38816447_38816447dupA	ENSP00000352312:p.Lys1471fs						p.F1470fs	NM_001371	NP_001362					35	5010_5011	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Ins	INS	ENST00000359357.3	37	c.4410_4411insA																																																																																					0.342	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	31	NA	NA	NA	NA	7	31	---	---	---	---
AKAP9	10142	broad.mit.edu	37	7	91570433	91570435	+	In_Frame_Del	DEL	AGA	AGA	-	rs183942717		TCGA-IQ-7632-01A-11D-2078-08	TCGA-IQ-7632-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	9fcfc377-a153-401c-95b4-8a4569866096	a469cc49-769d-4e13-ad08-591a3792926e	g.chr7:91570433_91570435delAGA	ENST00000359028.2	+	1	245_247	c.20_22delAGA	c.(19-24)cagaag>cag	p.K9del	AKAP9_ENST00000394564.1_In_Frame_Del_p.K9del|AKAP9_ENST00000356239.3_In_Frame_Del_p.K9del|AKAP9_ENST00000358100.2_In_Frame_Del_p.K9del			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	9					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAGGAGAGACAGAAGAAGCTGGA	0.635			T	BRAF	papillary thyroid																																	uc003ulg.2		NA		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(19-24)CAGAAG>CAG		A-kinase anchor protein 9 isoform 2																																				SO:0001651	inframe_deletion	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91570433_91570435delAGA	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.20_22delAGA	7.37:g.91570436_91570438delAGA	ENSP00000351922:p.Lys9del					AKAP9_uc003uld.3_In_Frame_Del_p.K9del|AKAP9_uc003ule.2_In_Frame_Del_p.K9del|AKAP9_uc003ulf.2_In_Frame_Del_p.K9del	p.K9del	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		1	245_247	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		9					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	In_Frame_Del	DEL	ENST00000359028.2	37	c.20_22delAGA																																																																																					0.635	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		12	108	NA	NA	NA	NA	12	108	---	---	---	---
