#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
PRAMEF1	65121	broad.mit.edu	37	1	12854235	12854235	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:12854235C>T	ENST00000332296.7	+	3	562	c.459C>T	c.(457-459)atC>atT	p.I153I	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	153					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)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCATAGACATCTGCCTCAAGG	0.522																																						uc001auj.1		NA																	0					0						c.(457-459)ATC>ATT		PRAME family member 1							57.0	64.0	62.0					1																	12854235		2186	4288	6474	SO:0001819	synonymous_variant	65121							g.chr1:12854235C>T	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.459C>T	1.37:g.12854235C>T							p.I153I	NM_023013	NP_075389	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	562	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	153					Q9UQP2	Silent	SNP	ENST00000332296.7	37	c.459C>T	CCDS148.1																																																																																				0.522	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		71	273	0	0	0	0	71	273				
NBPF1	55672	broad.mit.edu	37	1	16907926	16907926	+	Silent	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:16907926T>A	ENST00000430580.2	-	15	2255	c.1368A>T	c.(1366-1368)tcA>tcT	p.S456S	NBPF1_ENST00000432949.1_5'Flank	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	456	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGGGGGCAGATGATTCCAGTA	0.433																																						uc009vos.1		NA																	0					0						c.(1366-1368)TCA>TCT		hypothetical protein LOC55672							272.0	304.0	292.0					1																	16907926		1493	2688	4181	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16907926T>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.1368A>T	1.37:g.16907926T>A						NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Silent_p.S185S	p.S456S	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	15	2256	-			456			NBPF 2.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.1368A>T																																																																																					0.433	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		19	493	0	0	0	0	19	493				
EXTL1	2134	broad.mit.edu	37	1	26349593	26349593	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:26349593A>G	ENST00000374280.3	+	1	1323	c.456A>G	c.(454-456)caA>caG	p.Q152Q		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	152					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTCTGCAATGGAACAGGG	0.647																																						uc001blf.2		NA																	0				central_nervous_system(1)	1						c.(454-456)CAA>CAG		exostoses-like 1							55.0	54.0	54.0					1																	26349593		2203	4300	6503	SO:0001819	synonymous_variant	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349593A>G	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.456A>G	1.37:g.26349593A>G							p.Q152Q	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1323	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	152			Lumenal (Potential).		Q6GSC1	Silent	SNP	ENST00000374280.3	37	c.456A>G	CCDS271.1																																																																																				0.647	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		13	53	0	0	0	0	13	53				
MACF1	23499	broad.mit.edu	37	1	39876055	39876055	+	Intron	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:39876055G>C	ENST00000372915.3	+	58	15918				MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|KIAA0754_ENST00000530275.1_5'Flank|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTCTATATATGATACGATGAG	0.463																																						uc009vvt.1		NA																	0					0						c.(118-120)GAT>CAT		hypothetical protein LOC643314							75.0	72.0	73.0					1																	39876055		1921	4137	6058	SO:0001627	intron_variant	643314							g.chr1:39876055G>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15832-11991G>C	1.37:g.39876055G>C						MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.D40H	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	880	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	Error:Variant_position_missing_in_O94854_after_alignment					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.118G>C																																																																																					0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		15	46	0	0	0	0	15	46				
LRRC7	57554	broad.mit.edu	37	1	70144160	70144160	+	Splice_Site	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:70144160G>C	ENST00000370958.1	+	2	289	c.99G>C	c.(97-99)gaG>gaC	p.E33D	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGAAGAGGAGTGTAAGTATG	0.408																																						uc001deo.1		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(97-99)GAG>GAC		SubName: Full=Leucine rich repeat containing 7; SubName: Full=cDNA FLJ54846, highly similar to Leucine-rich repeat-containing protein 7;							21.0	20.0	20.0					1																	70144160		876	1991	2867	SO:0001630	splice_region_variant	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70144160G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000370958.1:c.100+1G>C	1.37:g.70144160G>C							p.E33D			Q96NW7	LRRC7_HUMAN			2	1554	+			Error:Variant_position_missing_in_Q96NW7_after_alignment					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000370958.1	37	c.99G>C		.	.	.	.	.	.	.	.	.	.	G	17.43	3.388855	0.61956	.	.	ENSG00000033122	ENST00000370958	T	0.39229	1.09	5.92	5.0	0.66597	.	.	.	.	.	T	0.29716	0.0742	.	.	.	0.80722	D	1	B	0.30068	0.267	P	0.48654	0.585	T	0.11591	-1.0581	8	0.12430	T	0.62	.	10.0175	0.42022	0.0894:0.0:0.9106:0.0	.	33	B1AKT2	.	D	33	ENSP00000359997:E33D	ENSP00000359997:E33D	E	+	3	2	LRRC7	69916748	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.987000	0.49378	2.803000	0.96430	0.591000	0.81541	GAG		0.408	LRRC7-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000131263.1	NM_020794	Missense_Mutation	5	12	0	0	0	0	5	12				
ERICH3	127254	broad.mit.edu	37	1	75038225	75038225	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:75038225C>A	ENST00000326665.5	-	14	3387	c.3169G>T	c.(3169-3171)Gca>Tca	p.A1057S	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1057	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CGCTCTCTTGCTAAATCTAAT	0.443																																						uc001dgg.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3169-3171)GCA>TCA		hypothetical protein LOC127254							155.0	164.0	161.0					1																	75038225		2203	4300	6503	SO:0001583	missense	127254							g.chr1:75038225C>A																												ENST00000326665.5:c.3169G>T	1.37:g.75038225C>A	ENSP00000322609:p.Ala1057Ser						p.A1057S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	3388	-			1057			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.3169G>T	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934328	0.34096	.	.	ENSG00000178965	ENST00000326665	T	0.14893	2.47	5.0	4.07	0.47477	.	.	.	.	.	T	0.12732	0.0309	L	0.36672	1.1	0.40651	D	0.982037	D	0.54207	0.965	P	0.58077	0.832	T	0.05784	-1.0864	9	0.11485	T	0.65	-1.2841	12.6199	0.56597	0.0:0.9159:0.0:0.0841	.	1057	Q5RHP9	CA173_HUMAN	S	1057	ENSP00000322609:A1057S	ENSP00000322609:A1057S	A	-	1	0	C1orf173	74810813	0.000000	0.05858	0.046000	0.18839	0.021000	0.10359	-0.157000	0.10085	2.327000	0.79052	0.561000	0.74099	GCA		0.443	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			51	131	1	0	2.08e-19	2.89e-19	51	131				
ABCA4	24	broad.mit.edu	37	1	94526180	94526180	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:94526180G>A	ENST00000370225.3	-	14	2159	c.2073C>T	c.(2071-2073)gtC>gtT	p.V691V	ABCA4_ENST00000535735.1_Silent_p.V691V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	691					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTGCATTGGAGACACCCTGAT	0.483																																						uc001dqh.2		NA																	0				ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(2071-2073)GTC>GTT		ATP-binding cassette, sub-family A member 4							172.0	143.0	153.0					1																	94526180		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526180G>A	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2073C>T	1.37:g.94526180G>A						ABCA4_uc010otn.1_Silent_p.V691V	p.V691V	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2177	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	691					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.2073C>T	CCDS747.1																																																																																				0.483	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		20	54	0	0	0	0	20	54				
DRAM2	128338	broad.mit.edu	37	1	111660792	111660792	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:111660792C>T	ENST00000286692.4	-	9	1408	c.791G>A	c.(790-792)aGa>aAa	p.R264K	DRAM2_ENST00000539140.1_Missense_Mutation_p.R264K|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	264					apoptotic process (GO:0006915)|regulation of autophagy (GO:0010506)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|microtubule cytoskeleton (GO:0015630)				endometrium(1)|large_intestine(5)|lung(3)	9						TCAAATATCTCTGGAAAGTAG	0.368																																						uc001ead.3		NA																	0					0						c.(790-792)AGA>AAA		transmembrane protein 77							126.0	131.0	129.0					1																	111660792		2203	4300	6503	SO:0001583	missense	128338				apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		g.chr1:111660792C>T	AY336747	CCDS30801.1	1p13.3	2010-07-08	2009-06-12	2009-06-12	ENSG00000156171	ENSG00000156171			28769	protein-coding gene	gene with protein product		613360	"""transmembrane protein 77"""	TMEM77		12975309	Standard	NM_178454		Approved	MGC54289, PRO180, WWFQ154, RP5-1180E21.1	uc001ead.4	Q6UX65	OTTHUMG00000011911	ENST00000286692.4:c.791G>A	1.37:g.111660792C>T	ENSP00000286692:p.Arg264Lys					DRAM2_uc001eae.3_Missense_Mutation_p.R264K|DRAM2_uc009wfy.2_RNA|DRAM2_uc001eaf.3_Missense_Mutation_p.R134K	p.R264K	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN			9	1048	-			264					B3SUG9|Q4VWF6|Q86VD3|Q8NBQ4	Missense_Mutation	SNP	ENST00000286692.4	37	c.791G>A	CCDS30801.1	.	.	.	.	.	.	.	.	.	.	C	13.31	2.197757	0.38806	.	.	ENSG00000156171	ENST00000286692;ENST00000539140	.	.	.	5.79	4.69	0.59074	.	0.119663	0.64402	D	0.000014	T	0.06872	0.0175	N	0.08118	0	0.28107	N	0.931147	B	0.06786	0.001	B	0.06405	0.002	T	0.22208	-1.0223	9	0.02654	T	1	-18.1663	10.5992	0.45356	0.0:0.8995:0.0:0.1005	.	264	Q6UX65	DRAM2_HUMAN	K	264	.	ENSP00000286692:R264K	R	-	2	0	DRAM2	111462315	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.831000	0.48144	2.738000	0.93877	0.585000	0.79938	AGA		0.368	DRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032930.3	NM_178454		10	53	0	0	0	0	10	53				
PEX19	5824	broad.mit.edu	37	1	160253344	160253344	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:160253344C>T	ENST00000368072.5	-	2	177	c.156G>A	c.(154-156)aaG>aaA	p.K52K	DCAF8_ENST00000608310.1_Intron|PEX19_ENST00000532508.1_5'UTR|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_Intron	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	52	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGCGATCTCTTCTGGGGCC	0.577																																						uc001fvs.2		NA																	0					0						c.(154-156)AAG>AAA		peroxisomal biogenesis factor 19 isoform a							64.0	65.0	64.0					1																	160253344		2203	4300	6503	SO:0001819	synonymous_variant	5824				peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport	brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane	protein binding|protein N-terminus binding	g.chr1:160253344C>T	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.156G>A	1.37:g.160253344C>T						DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron	p.K52K	NM_002857	NP_002848	P40855	PEX19_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	183	-	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		52			Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3.		D3DVE7|Q5QNY4|Q8NI97	Silent	SNP	ENST00000368072.5	37	c.156G>A	CCDS1201.1																																																																																				0.577	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857		21	50	0	0	0	0	21	50				
UAP1	6675	broad.mit.edu	37	1	162536139	162536139	+	Splice_Site	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:162536139G>T	ENST00000367925.1	+	1	312		c.e1+1		UAP1_ENST00000367926.4_Splice_Site|UAP1_ENST00000367924.1_Splice_Site|UAP1_ENST00000271469.3_Splice_Site			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAAGTGAAGGTACTGGGCAT	0.408																																						uc001gce.3		NA																	0				ovary(2)|skin(2)|kidney(1)	5						c.e2+1		UDP-N-acetylglucosamine pyrophosphorylase 1							72.0	63.0	66.0					1																	162536139		2203	4300	6503	SO:0001630	splice_region_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162536139G>T	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	ENST00000367925.1:c.280+1G>T	1.37:g.162536139G>T							p.G94_splice	NM_003115	NP_003106	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		2	609	+	all_hematologic(112;0.115)							B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Splice_Site	SNP	ENST00000367925.1	37	c.280_splice		.	.	.	.	.	.	.	.	.	.	G	20.4	3.986636	0.74589	.	.	ENSG00000117143	ENST00000412525;ENST00000367926;ENST00000271469;ENST00000367925;ENST00000367924	.	.	.	5.24	5.24	0.73138	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3513	0.83213	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UAP1	160802763	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.253000	0.78320	2.416000	0.81992	0.655000	0.94253	.		0.408	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	NM_003115	Intron	12	31	1	0	2.68e-12	3.68e-12	12	31				
TMCO1	54499	broad.mit.edu	37	1	165712477	165712477	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:165712477T>C	ENST00000392129.6	-	6	545	c.395A>G	c.(394-396)aAt>aGt	p.N132S	TMCO1_ENST00000580248.1_Missense_Mutation_p.N48S|TMCO1_ENST00000367881.5_Missense_Mutation_p.N183S|TMCO1_ENST00000464650.1_Missense_Mutation_p.N48S	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	132						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCCCAGCAGATTTCGATGAGA	0.378																																						uc001gdj.3		NA																	0				central_nervous_system(1)	1						c.(394-396)AAT>AGT		transmembrane and coiled-coil domains 1							91.0	91.0	91.0					1																	165712477		2203	4300	6503	SO:0001583	missense	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712477T>C	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.395A>G	1.37:g.165712477T>C	ENSP00000375975:p.Asn132Ser					TMCO1_uc001gdl.3_Missense_Mutation_p.N48S|TMCO1_uc001gdm.3_Missense_Mutation_p.N48S|TMCO1_uc001gdk.3_Missense_Mutation_p.N120S|TMCO1_uc001gdn.3_RNA	p.N132S	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN			6	544	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)		132					B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	ENST00000392129.6	37	c.395A>G		.	.	.	.	.	.	.	.	.	.	T	28.4	4.914425	0.92178	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63651	0.2529	M	0.80746	2.51	0.49582	D	0.999807	P;P	0.39003	0.654;0.57	P;P	0.46629	0.522;0.453	T	0.67669	-0.5611	8	0.38643	T	0.18	.	14.7743	0.69713	0.0:0.0:0.0:1.0	.	120;132	B7Z591;Q9UM00	.;TMCO1_HUMAN	S	132;113	.	ENSP00000356856:N132S	N	-	2	0	TMCO1	163979101	1.000000	0.71417	0.959000	0.39883	0.973000	0.67179	7.606000	0.82863	2.371000	0.80710	0.533000	0.62120	AAT		0.378	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026		14	43	0	0	0	0	14	43				
DNM3	26052	broad.mit.edu	37	1	172011156	172011156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:172011156C>T	ENST00000355305.5	+	8	1157	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	DNM3_ENST00000367733.2_Nonsense_Mutation_p.Q334*|DNM3_ENST00000358155.4_Nonsense_Mutation_p.Q334*|DNM3_ENST00000520906.1_Nonsense_Mutation_p.Q334*|DNM3_ENST00000367731.1_Nonsense_Mutation_p.Q334*			Q9UQ16	DYN3_HUMAN	dynamin 3	334					endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAGGATGGTTCAGCAATTTGC	0.368																																						uc001gie.2		NA																	0				breast(1)	1						c.(1000-1002)CAG>TAG		dynamin 3 isoform a							133.0	129.0	130.0					1																	172011156		1826	4083	5909	SO:0001587	stop_gained	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172011156C>T	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1000C>T	1.37:g.172011156C>T	ENSP00000347457:p.Gln334*					DNM3_uc001gid.3_Nonsense_Mutation_p.Q334*|DNM3_uc009wwb.2_Nonsense_Mutation_p.Q334*|DNM3_uc001gif.2_Nonsense_Mutation_p.Q334*	p.Q334*	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN			8	1176	+			334					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonsense_Mutation	SNP	ENST00000355305.5	37	c.1000C>T		.	.	.	.	.	.	.	.	.	.	C	39	7.853365	0.98525	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906;ENST00000523513	.	.	.	5.65	5.65	0.86999	.	0.126782	0.56097	D	0.000024	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.2887	0.90122	0.0:1.0:0.0:0.0	.	.	.	.	X	334;334;334;334;334;334;224	.	ENSP00000347457:Q334X	Q	+	1	0	DNM3	170277779	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.669000	0.90835	0.491000	0.48974	CAG		0.368	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		23	87	0	0	0	0	23	87				
F13B	2165	broad.mit.edu	37	1	197030149	197030149	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:197030149A>T	ENST00000367412.1	-	4	551	c.508T>A	c.(508-510)Ttc>Atc	p.F170I		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	170	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTCACTTTGAATGTTTTCTGT	0.323																																						uc001gtt.1		NA																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(508-510)TTC>ATC		coagulation factor XIII B subunit precursor							169.0	155.0	160.0					1																	197030149		2203	4300	6503	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197030149A>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.508T>A	1.37:g.197030149A>T	ENSP00000356382:p.Phe170Ile						p.F170I	NM_001994	NP_001985	P05160	F13B_HUMAN			4	552	-			170			Sushi 3.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.508T>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.064775	0.76187	.	.	ENSG00000143278	ENST00000367412	T	0.69561	-0.41	5.88	5.88	0.94601	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80813	0.4695	M	0.83953	2.67	0.41623	D	0.988972	D	0.59767	0.986	D	0.65323	0.934	D	0.83751	0.0209	9	0.72032	D	0.01	.	11.3423	0.49539	0.9279:0.0:0.0721:0.0	.	170	P05160	F13B_HUMAN	I	170	ENSP00000356382:F170I	ENSP00000356382:F170I	F	-	1	0	F13B	195296772	0.965000	0.33210	0.566000	0.28421	0.865000	0.49528	2.401000	0.44513	2.253000	0.74438	0.455000	0.32223	TTC		0.323	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		13	61	0	0	0	0	13	61				
ADORA1	134	broad.mit.edu	37	1	203097989	203097989	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:203097989C>T	ENST00000367236.4	+	2	941	c.20C>T	c.(19-21)gCt>gTt	p.A7V	ADORA1_ENST00000309502.3_Missense_Mutation_p.A7V|RP11-335O13.7_ENST00000421055.1_RNA|ADORA1_ENST00000337894.4_Missense_Mutation_p.A7V|ADORA1_ENST00000367235.1_Missense_Mutation_p.A7V	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	7					activation of MAPKK activity (GO:0000186)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cognition (GO:0050890)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood pressure (GO:0045776)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of heart contraction (GO:0045822)|negative regulation of hormone secretion (GO:0046888)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of mucus secretion (GO:0070256)|negative regulation of neurotrophin production (GO:0032900)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of vasodilation (GO:0045908)|nervous system development (GO:0007399)|phagocytosis (GO:0006909)|positive regulation of blood pressure (GO:0045777)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of nucleoside transport (GO:0032244)|positive regulation of peptide secretion (GO:0002793)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of protein dephosphorylation (GO:0035307)|protein targeting to membrane (GO:0006612)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of glomerular filtration (GO:0003093)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|relaxation of vascular smooth muscle (GO:0060087)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|temperature homeostasis (GO:0001659)	asymmetric synapse (GO:0032279)|axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled adenosine receptor activity (GO:0001609)|phospholipase C activity (GO:0004629)|purine nucleoside binding (GO:0001883)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Adenosine(DB00640)|Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Dyphylline(DB00651)|Enprofylline(DB00824)|Gabapentin(DB00996)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Theobromine(DB01412)|Theophylline(DB00277)	TCCATCTCAGCTTTCCAGGCC	0.657																																						uc001gze.1		NA																	0				large_intestine(1)	1						c.(19-21)GCT>GTT		adenosine A1 receptor	Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)						93.0	82.0	85.0					1																	203097989		2203	4300	6503	SO:0001583	missense	134				induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane		g.chr1:203097989C>T	BC026340	CCDS1434.1	1q32.1	2012-08-08			ENSG00000163485	ENSG00000163485		"""GPCR / Class A : Adenosine receptors"""	262	protein-coding gene	gene with protein product		102775				1662665, 2541503	Standard	NM_001048230		Approved	RDC7	uc001gzf.1	P30542	OTTHUMG00000042125	ENST00000367236.4:c.20C>T	1.37:g.203097989C>T	ENSP00000356205:p.Ala7Val					ADORA1_uc001gzf.1_Missense_Mutation_p.A7V|ADORA1_uc010pqg.1_5'UTR|ADORA1_uc009xak.1_5'UTR|ADORA1_uc010pqh.1_Missense_Mutation_p.A40V	p.A7V	NM_000674	NP_000665	P30542	AA1R_HUMAN			3	453	+			7			Extracellular (Potential).		A6NFY5|A6NGP4|A8K1L3|B3KXQ4|D2CGD0|Q6FHK3|Q8TAM8	Missense_Mutation	SNP	ENST00000367236.4	37	c.20C>T	CCDS1434.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.923561	0.52653	.	.	ENSG00000163485	ENST00000309502;ENST00000367236;ENST00000337894;ENST00000367235	T;T;T;T	0.37235	1.21;1.21;1.21;1.21	4.34	4.34	0.51931	.	0.171393	0.50627	D	0.000110	T	0.14657	0.0354	N	0.03967	-0.31	0.44798	D	0.997808	P;B	0.42827	0.791;0.209	B;B	0.38428	0.273;0.066	T	0.10154	-1.0642	10	0.09843	T	0.71	-24.7337	12.0278	0.53382	0.0:0.826:0.174:0.0	.	40;7	B7Z379;P30542	.;AA1R_HUMAN	V	7	ENSP00000308549:A7V;ENSP00000356205:A7V;ENSP00000338435:A7V;ENSP00000356204:A7V	ENSP00000308549:A7V	A	+	2	0	ADORA1	201364612	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.983000	0.56916	2.235000	0.73313	0.609000	0.83330	GCT		0.657	ADORA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100273.1	NM_000674		18	81	0	0	0	0	18	81				
TP53BP2	7159	broad.mit.edu	37	1	223984132	223984132	+	Silent	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr1:223984132G>C	ENST00000343537.7	-	13	2400	c.2109C>G	c.(2107-2109)ctC>ctG	p.L703L	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391878.2_Silent_p.L574L|TP53BP2_ENST00000391879.2_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	697					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		TAGTTGGGCTGAGTGGCCGAG	0.468																																						uc010pvb.1		NA																	0				ovary(2)|lung(1)	3						c.(2107-2109)CTC>CTG		tumor protein p53 binding protein, 2 isoform 1							137.0	134.0	135.0					1																	223984132		2203	4300	6503	SO:0001819	synonymous_variant	7159				apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:223984132G>C	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.2109C>G	1.37:g.223984132G>C						TP53BP2_uc001hod.2_Silent_p.L574L|TP53BP2_uc010puz.1_5'UTR|TP53BP2_uc010pva.1_Silent_p.L342L	p.L703L	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN		GBM - Glioblastoma multiforme(131;0.0958)	13	2401	-			697					B4DG66|Q12892|Q86X75|Q96KQ3	Silent	SNP	ENST00000343537.7	37	c.2109C>G	CCDS44319.1																																																																																				0.468	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090985.3	NM_001031685, NM_005426		45	122	0	0	0	0	45	122				
KIF5B	3799	broad.mit.edu	37	10	32329357	32329357	+	Missense_Mutation	SNP	T	T	C	rs147256984		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:32329357T>C	ENST00000302418.4	-	3	700	c.243A>G	c.(241-243)atA>atG	p.I81M		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	81	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CATATGCAAATATTGTTCCAT	0.328			T	"""RET, ALK"""	NSCLC																																	uc001iwe.3		NA		Dom	yes		10	10p11.22	3799		kinesin family member 5B			E				KIF5B/ALK(4)	0				lung(4)|ovary(1)	5						c.(241-243)ATA>ATG		kinesin family member 5B		T	MET/ILE	0,4404		0,0,2202	207.0	188.0	194.0		243	4.6	1.0	10	dbSNP_134	194	1,8593	1.2+/-3.3	0,1,4296	no	missense	KIF5B	NM_004521.2	10	0,1,6498	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	81/964	32329357	1,12997	2202	4297	6499	SO:0001583	missense	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32329357T>C	X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.243A>G	10.37:g.32329357T>C	ENSP00000307078:p.Ile81Met						p.I81M	NM_004521	NP_004512	P33176	KINH_HUMAN			3	713	-		Prostate(175;0.0137)	81			Kinesin-motor.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.243A>G	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	18.33	3.601382	0.66445	0.0	1.16E-4	ENSG00000170759	ENST00000302418	T	0.77620	-1.11	5.8	4.63	0.57726	Kinesin, motor domain (5);	0.043454	0.85682	D	0.000000	D	0.89315	0.6680	M	0.90145	3.09	0.46725	D	0.999174	D	0.89917	1.0	D	0.85130	0.997	D	0.90406	0.4406	10	0.87932	D	0	.	12.1533	0.54062	0.1284:0.0:0.0:0.8716	.	81	P33176	KINH_HUMAN	M	81	ENSP00000307078:I81M	ENSP00000307078:I81M	I	-	3	3	KIF5B	32369363	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.236000	0.32683	0.990000	0.38787	0.529000	0.55759	ATA		0.328	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		13	43	0	0	0	0	13	43				
POLR3A	11128	broad.mit.edu	37	10	79737376	79737376	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:79737376C>A	ENST00000372371.3	-	31	4170	c.4033G>T	c.(4033-4035)Gag>Tag	p.E1345*		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1345					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGATGCACTCAGACACCCCT	0.478																																						uc001jzn.2		NA																	0					0						c.(4033-4035)GAG>TAG		polymerase (RNA) III (DNA directed) polypeptide							93.0	89.0	90.0					10																	79737376		2203	4300	6503	SO:0001587	stop_gained	11128				innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	g.chr10:79737376C>A	AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.4033G>T	10.37:g.79737376C>A	ENSP00000361446:p.Glu1345*						p.E1345*	NM_007055	NP_008986	O14802	RPC1_HUMAN	Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)		31	4127	-	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		1345					Q8IW34|Q8TCW5	Nonsense_Mutation	SNP	ENST00000372371.3	37	c.4033G>T	CCDS7354.1	.	.	.	.	.	.	.	.	.	.	C	45	11.539889	0.99574	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-29.8059	19.3013	0.94145	0.0:1.0:0.0:0.0	.	.	.	.	X	1345;1324	.	.	E	-	1	0	POLR3A	79407382	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	7.038000	0.76537	2.569000	0.86673	0.655000	0.94253	GAG		0.478	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048923.1	NM_007055		17	59	1	0	0.00074312	0.000945233	17	59				
GRID1	2894	broad.mit.edu	37	10	87898641	87898641	+	Missense_Mutation	SNP	G	G	A	rs201655919		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:87898641G>A	ENST00000327946.7	-	4	746	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	221					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						AGCGTGTCCCGGTAGCGATTC	0.592										Multiple Myeloma(13;0.14)			g|||	1	0.000199681	0.0	0.0014	5008	,	,		20594	0.0		0.0	False		,,,				2504	0.0					uc001kdl.1		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1)	10						c.(661-663)CGG>TGG		glutamate receptor, ionotropic, delta 1	L-Glutamic Acid(DB00142)						191.0	163.0	172.0					10																	87898641		2203	4300	6503	SO:0001583	missense	2894					cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	g.chr10:87898641G>A	AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.661C>T	10.37:g.87898641G>A	ENSP00000330148:p.Arg221Trp	Multiple Myeloma(13;0.14)				GRID1_uc009xsu.1_RNA	p.R221W	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN			4	762	-			221			Extracellular (Potential).		B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	ENST00000327946.7	37	c.661C>T	CCDS31236.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	g	19.13	3.767266	0.69878	.	.	ENSG00000182771	ENST00000327946	D	0.84298	-1.83	5.17	3.26	0.37387	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90147	0.6921	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89761	0.3947	10	0.87932	D	0	.	12.341	0.55093	0.0:0.0:0.5558:0.4442	.	221	Q9ULK0	GRID1_HUMAN	W	221	ENSP00000330148:R221W	ENSP00000330148:R221W	R	-	1	2	GRID1	87888621	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.309000	0.59135	0.536000	0.28733	-0.329000	0.08387	CGG		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613		41	133	0	0	0	0	41	133				
AGAP11	119385	broad.mit.edu	37	10	88768495	88768495	+	RNA	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:88768495G>A	ENST00000444431.1	+	0	3095				RP11-96C23.10_ENST00000451760.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)										GTGATTATATGAAGAATATTC	0.443																																						uc001kee.2		NA																	0					0						c.(484-486)ATG>ATA		ankyrin repeat and GTPase domain Arf GTPase							69.0	81.0	77.0					10																	88768495		2172	4256	6428			119385				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:88768495G>A			10q23.2	2013-01-11			ENSG00000151303	ENSG00000151303		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	29421	protein-coding gene	gene with protein product						11853319	Standard	NM_133447		Approved	KIAA1975	uc001kee.2	Q8TF27	OTTHUMG00000018667		10.37:g.88768495G>A						AGAP11_uc001kef.2_Intron	p.M162I	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN			12	1690	+			162			PH.		B9EIP7|D3DWE4	Missense_Mutation	SNP	ENST00000444431.1	37	c.486G>A																																																																																					0.443	AGAP11-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000049193.1	NM_133447		55	197	0	0	0	0	55	197				
CHUK	1147	broad.mit.edu	37	10	101953836	101953836	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:101953836C>A	ENST00000370397.7	-	18	1965	c.1879G>T	c.(1879-1881)Gtg>Ttg	p.V627L	CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	627					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CTGAGGGCCACTTCCACCTTA	0.423																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NA																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(1879-1881)GTG>TTG		conserved helix-loop-helix ubiquitous kinase							91.0	85.0	87.0					10																	101953836		2203	4300	6503	SO:0001583	missense	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101953836C>A	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1879G>T	10.37:g.101953836C>A	ENSP00000359424:p.Val627Leu						p.V627L	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	18	1934	-		Colorectal(252;0.117)	627					O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	ENST00000370397.7	37	c.1879G>T	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	13.77	2.336812	0.41398	.	.	ENSG00000213341	ENST00000370397	T	0.71461	-0.57	5.71	4.75	0.60458	.	0.231584	0.45126	D	0.000385	T	0.57695	0.2071	L	0.44542	1.39	0.30289	N	0.790593	B	0.18013	0.025	B	0.13407	0.009	T	0.54316	-0.8312	10	0.33940	T	0.23	-3.0855	5.4031	0.16306	0.0:0.7116:0.0:0.2884	.	627	O15111	IKKA_HUMAN	L	627	ENSP00000359424:V627L	ENSP00000359424:V627L	V	-	1	0	CHUK	101943826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.245000	0.43133	1.243000	0.43853	0.563000	0.77884	GTG		0.423	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278		13	52	1	0	0.00010058	0.00013008	13	52				
ABLIM1	3983	broad.mit.edu	37	10	116251550	116251550	+	Splice_Site	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:116251550C>T	ENST00000277895.5	-	7	1079	c.982G>A	c.(982-984)Ggc>Agc	p.G328S	ABLIM1_ENST00000392952.3_Splice_Site_p.G12S|ABLIM1_ENST00000369266.3_Splice_Site_p.G12S|ABLIM1_ENST00000533213.2_Splice_Site_p.G268S|ABLIM1_ENST00000369253.2_Splice_Site_p.G12S|ABLIM1_ENST00000369252.4_Splice_Site_p.G268S	NM_002313.5	NP_002304.3	O14639	ABLM1_HUMAN	actin binding LIM protein 1	328	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				axon guidance (GO:0007411)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TCCACCTCACCTTGAAGATAC	0.438																																						uc010qsg.1		NA																	0				breast(1)	1						c.(982-984)GGC>AGC		actin-binding LIM protein 1 isoform a							192.0	162.0	172.0					10																	116251550		2203	4300	6503	SO:0001630	splice_region_variant	3983				axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding	g.chr10:116251550C>T	AF005654	CCDS7590.1, CCDS31289.1	10q25	2008-07-07		2002-09-13	ENSG00000099204	ENSG00000099204			78	protein-coding gene	gene with protein product		602330		LIMAB1, ABLIM		9245787	Standard	NM_002313		Approved	abLIM, limatin	uc021pyw.1	O14639	OTTHUMG00000019088	ENST00000277895.5:c.982+1G>A	10.37:g.116251550C>T						ABLIM1_uc010qsh.1_Missense_Mutation_p.G268S|ABLIM1_uc010qsi.1_Missense_Mutation_p.G268S|ABLIM1_uc010qsk.1_Missense_Mutation_p.G252S|ABLIM1_uc009xyp.2_Missense_Mutation_p.G262S|ABLIM1_uc010qsf.1_Missense_Mutation_p.G12S|ABLIM1_uc009xyn.2_Missense_Mutation_p.G5S|ABLIM1_uc010qsj.1_Missense_Mutation_p.G5S|ABLIM1_uc009xyo.2_Missense_Mutation_p.G176S	p.G328S	NM_002313	NP_002304	O14639	ABLM1_HUMAN		Epithelial(162;0.0132)|all cancers(201;0.0383)	7	1081	-		Colorectal(252;0.0373)|Breast(234;0.231)	328			LIM zinc-binding 4.		A6NI16|A6NJ06|A8MXA9|B3KVH2|Q15039|Q5JVV1|Q5JVV2|Q5T6N2|Q5T6N3|Q5T6N5|Q68CQ9|Q9BUP1	Missense_Mutation	SNP	ENST00000277895.5	37	c.982G>A	CCDS7590.1	.	.	.	.	.	.	.	.	.	.	C	33	5.226091	0.95173	.	.	ENSG00000099204	ENST00000336585;ENST00000369252;ENST00000392952;ENST00000369257;ENST00000369267;ENST00000533213;ENST00000369262;ENST00000369263;ENST00000369266;ENST00000369256;ENST00000369260;ENST00000277895;ENST00000369253;ENST00000428430	D;T;D;T;D;T;T	0.87179	-2.22;0.06;-2.22;0.1;-2.22;0.43;-0.85	5.75	5.75	0.90469	Zinc finger, LIM-type (3);	0.000000	0.85682	D	0.000000	D	0.94706	0.8292	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D;D;P;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0;0.943;0.999;1.0	D;D;D;D;D;D;P;D;D	0.97110	1.0;1.0;1.0;0.998;0.99;1.0;0.896;0.988;1.0	D	0.95161	0.8281	9	.	.	.	.	16.8829	0.86068	0.0:1.0:0.0:0.0	.	252;12;268;268;328;12;268;252;12	B7Z4H1;B4DQA3;F8W8M4;A6NKJ2;O14639;O14639-5;B3KVH2;C9K0X4;O14639-4	.;.;.;.;ABLM1_HUMAN;.;.;.;.	S	328;268;12;12;268;268;328;252;12;252;252;328;12;12	ENSP00000358256:G268S;ENSP00000376679:G12S;ENSP00000433629:G268S;ENSP00000358270:G12S;ENSP00000277895:G328S;ENSP00000358257:G12S;ENSP00000400934:G12S	.	G	-	1	0	ABLIM1	116241540	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.464000	0.80887	2.701000	0.92244	0.650000	0.86243	GGC		0.438	ABLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050469.3		Missense_Mutation	25	94	0	0	0	0	25	94				
KCNK18	338567	broad.mit.edu	37	10	118969311	118969311	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:118969311C>G	ENST00000334549.1	+	3	656	c.656C>G	c.(655-657)tCa>tGa	p.S219*		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	219					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)	p.S219L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		ACATGTCCTTCACGCCCAAGC	0.532																																						uc010qsr.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(655-657)TCA>TGA		potassium channel, subfamily K, member 18							80.0	80.0	80.0					10																	118969311		2203	4300	6503	SO:0001587	stop_gained	338567					integral to membrane|plasma membrane		g.chr10:118969311C>G	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.656C>G	10.37:g.118969311C>G	ENSP00000334650:p.Ser219*						p.S219*	NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN		all cancers(201;0.0211)	3	656	+		Colorectal(252;0.19)	219			Cytoplasmic (Potential).		Q5SQQ8	Nonsense_Mutation	SNP	ENST00000334549.1	37	c.656C>G	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.289386	0.40494	.	.	ENSG00000186795	ENST00000334549	.	.	.	4.72	0.767	0.18482	.	1.364740	0.04456	N	0.373508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	8.7324	0.34507	0.0:0.665:0.0:0.335	.	.	.	.	X	219	.	ENSP00000334650:S219X	S	+	2	0	KCNK18	118959301	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.423000	0.07034	0.037000	0.15575	-0.119000	0.15052	TCA		0.532	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		14	51	0	0	0	0	14	51				
PDZD8	118987	broad.mit.edu	37	10	119043299	119043299	+	Missense_Mutation	SNP	G	G	A	rs148717941		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr10:119043299G>A	ENST00000334464.5	-	5	3184	c.2945C>T	c.(2944-2946)aCg>aTg	p.T982M	PDZD8_ENST00000482496.1_5'Flank	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	982					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		ACAGACCTCCGTGTCACTGCC	0.478																																						uc001lde.1		NA																	0					0						c.(2944-2946)ACG>ATG		PDZ domain containing 8		G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	284.0	282.0	283.0		2945	4.9	1.0	10	dbSNP_134	283	0,8600		0,0,4300	no	missense	PDZD8	NM_173791.3	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	982/1155	119043299	1,13005	2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119043299G>A	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2945C>T	10.37:g.119043299G>A	ENSP00000334642:p.Thr982Met						p.T982M	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	3144	-		Colorectal(252;0.19)	982					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2945C>T	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617369	0.66672	2.27E-4	0.0	ENSG00000165650	ENST00000334464	D	0.86562	-2.14	5.82	4.88	0.63580	.	0.103105	0.64402	D	0.000003	D	0.88503	0.6454	L	0.27053	0.805	0.46849	D	0.999223	D	0.89917	1.0	D	0.64506	0.926	D	0.89314	0.3635	10	0.59425	D	0.04	-13.7757	16.3514	0.83213	0.0:0.0:0.8674:0.1326	.	982	Q8NEN9	PDZD8_HUMAN	M	982	ENSP00000334642:T982M	ENSP00000334642:T982M	T	-	2	0	PDZD8	119033289	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.611000	0.74183	2.764000	0.94973	0.650000	0.86243	ACG		0.478	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791		79	257	0	0	0	0	79	257				
IRF7	3665	broad.mit.edu	37	11	613301	613301	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:613301C>T	ENST00000397574.2	-	9	1511	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	IRF7_ENST00000397570.1_Missense_Mutation_p.G352D|IRF7_ENST00000525445.1_Missense_Mutation_p.G275D|IRF7_ENST00000330243.5_Missense_Mutation_p.G394D|IRF7_ENST00000397562.3_Missense_Mutation_p.G88D|IRF7_ENST00000348655.6_Missense_Mutation_p.G352D|IRF7_ENST00000397566.1_Missense_Mutation_p.G394D	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	381					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGGTCCGCCCACCTCCCA	0.672																																						uc001lqh.2		NA																	0					0						c.(1141-1143)GGC>GAC		interferon regulatory factor 7 isoform a							14.0	21.0	19.0					11																	613301		2194	4290	6484	SO:0001583	missense	3665				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:613301C>T	U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1142G>A	11.37:g.613301C>T	ENSP00000380704:p.Gly381Asp					IRF7_uc009ycb.2_Missense_Mutation_p.G275D|IRF7_uc010qwf.1_Missense_Mutation_p.G380D|IRF7_uc001lqf.2_Missense_Mutation_p.G88D|IRF7_uc010qwg.1_Missense_Mutation_p.G88D|IRF7_uc001lqg.2_Missense_Mutation_p.G394D|IRF7_uc001lqi.2_Missense_Mutation_p.G352D|IRF7_uc010qwh.1_Missense_Mutation_p.G88D	p.G381D	NM_001572	NP_001563	Q92985	IRF7_HUMAN		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1512	-		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)	381					B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Missense_Mutation	SNP	ENST00000397574.2	37	c.1142G>A	CCDS7703.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.238375	0.58886	.	.	ENSG00000185507	ENST00000525445;ENST00000348655;ENST00000397570;ENST00000397566;ENST00000397574;ENST00000397562;ENST00000330243	D;D;D;D;D;D;D	0.93953	-3.32;-3.32;-3.32;-3.32;-3.32;-3.32;-3.32	4.27	4.27	0.50696	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.488362	0.21247	N	0.077701	D	0.95934	0.8676	M	0.77103	2.36	0.40434	D	0.979975	D;P;D;D	0.89917	1.0;0.701;1.0;1.0	D;P;D;D	0.91635	0.994;0.521;0.999;0.995	D	0.94464	0.7679	10	0.20519	T	0.43	-31.5753	14.3822	0.66919	0.0:1.0:0.0:0.0	.	275;352;381;394	E9PSE3;Q92985-2;Q92985;Q92985-4	.;.;IRF7_HUMAN;.	D	275;352;352;394;381;88;394	ENSP00000434009:G275D;ENSP00000331803:G352D;ENSP00000380700:G352D;ENSP00000380697:G394D;ENSP00000380704:G381D;ENSP00000380693:G88D;ENSP00000329411:G394D	ENSP00000329411:G394D	G	-	2	0	IRF7	603301	0.495000	0.26051	0.892000	0.35008	0.451000	0.32288	2.782000	0.47758	2.376000	0.81061	0.561000	0.74099	GGC		0.672	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255026.1	NM_001572		7	27	0	0	0	0	7	27				
OR51Q1	390061	broad.mit.edu	37	11	5444060	5444060	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:5444060C>T	ENST00000300778.4	+	1	720	c.630C>T	c.(628-630)atC>atT	p.I210I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTATTATCGTGGATCCTC	0.502																																						uc010qzd.1		NA																	0				ovary(1)	1						c.(628-630)ATC>ATT		olfactory receptor, family 51, subfamily Q,							175.0	149.0	158.0					11																	5444060		2201	4297	6498	SO:0001819	synonymous_variant	390061				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5444060C>T	AB065531	CCDS31381.1	11p15.4	2013-10-10	2013-10-10		ENSG00000167360	ENSG00000167360		"""GPCR / Class A : Olfactory receptors"""	14851	protein-coding gene	gene with protein product			"""olfactory receptor, family 51, subfamily Q, member 1"""				Standard	NM_001004757		Approved		uc010qzd.2	Q8NH59	OTTHUMG00000066896	ENST00000300778.4:c.630C>T	11.37:g.5444060C>T						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.I210I	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	630	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	210			Helical; Name=5; (Potential).		B2RNN1	Silent	SNP	ENST00000300778.4	37	c.630C>T	CCDS31381.1																																																																																				0.502	OR51Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143373.1	NM_001004757		39	119	0	0	0	0	39	119				
DNHD1	144132	broad.mit.edu	37	11	6588430	6588430	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:6588430T>G	ENST00000527990.2	+	34	11691	c.11691T>G	c.(11689-11691)atT>atG	p.I3897M	DNHD1_ENST00000254579.6_Missense_Mutation_p.I3897M			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3897					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CACGTGAGATTAATCACGGGG	0.572																																						uc001mdw.3		NA																	0				ovary(2)	2						c.(11689-11691)ATT>ATG		dynein heavy chain domain 1 isoform 1							85.0	92.0	90.0					11																	6588430		2106	4214	6320	SO:0001583	missense	144132				microtubule-based movement	dynein complex	microtubule motor activity	g.chr11:6588430T>G	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11691T>G	11.37:g.6588430T>G	ENSP00000436180:p.Ile3897Met					DNHD1_uc001mea.3_Missense_Mutation_p.I166M|DNHD1_uc001meb.2_Missense_Mutation_p.I165M|DNHD1_uc001mec.2_Missense_Mutation_p.I165M|DNHD1_uc010rao.1_Missense_Mutation_p.I155M|DNHD1_uc009yfg.2_5'Flank	p.I3897M	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	36	12255	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)	3897					Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	c.11691T>G	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	9.214	1.031735	0.19590	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.26373	1.74;1.74	4.78	-0.375	0.12509	.	1.557610	0.03774	N	0.260279	T	0.15219	0.0367	N	0.14661	0.345	0.09310	N	1	B;B;B	0.18461	0.015;0.028;0.015	B;B;B	0.14578	0.011;0.007;0.011	T	0.25847	-1.0120	10	0.45353	T	0.12	4.7904	4.862	0.13588	0.0:0.3488:0.1643:0.4869	.	2985;165;3897	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	M	3897;3897;165;165	ENSP00000254579:I3897M;ENSP00000436180:I3897M	ENSP00000254579:I3897M	I	+	3	3	DNHD1	6545006	0.000000	0.05858	0.000000	0.03702	0.887000	0.51463	-0.608000	0.05641	0.022000	0.15160	0.459000	0.35465	ATT		0.572	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666		35	89	0	0	0	0	35	89				
TMEM41B	440026	broad.mit.edu	37	11	9321190	9321190	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:9321190A>G	ENST00000528080.1	-	2	518	c.180T>C	c.(178-180)atT>atC	p.I60I	TMEM41B_ENST00000527813.1_Silent_p.I60I|TMEM41B_ENST00000533723.1_Silent_p.I60I	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	60					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		CAGATAAGAAAATGGACACCA	0.299																																						uc001mhm.2		NA																	0					0						c.(178-180)ATT>ATC		transmembrane protein 41B isoform 1							46.0	48.0	48.0					11																	9321190		2201	4296	6497	SO:0001819	synonymous_variant	440026					integral to membrane		g.chr11:9321190A>G	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.180T>C	11.37:g.9321190A>G						TMEM41B_uc001mhn.1_Silent_p.I60I	p.I60I	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	2	488	-			60			Helical; (Potential).		D3DQU9|E9PP29|Q15055|Q4G0P0	Silent	SNP	ENST00000528080.1	37	c.180T>C	CCDS31424.1																																																																																				0.299	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			11	42	0	0	0	0	11	42				
CD82	3732	broad.mit.edu	37	11	44640601	44640601	+	Silent	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:44640601C>A	ENST00000227155.4	+	10	977	c.729C>A	c.(727-729)ctC>ctA	p.L243L	CD82_ENST00000530931.1_3'UTR|CD82_ENST00000342935.3_Silent_p.L218L	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	243						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				large_intestine(1)|ovary(1)	2						CCCCACAGCTCCTGGGGATGG	0.607																																						uc001myc.2		NA																	0				ovary(1)	1						c.(727-729)CTC>CTA		CD82 antigen isoform 1							117.0	98.0	105.0					11																	44640601		2203	4299	6502	SO:0001819	synonymous_variant	3732					integral to plasma membrane	protein binding	g.chr11:44640601C>A	U20770	CCDS7909.1, CCDS31469.1	11p11.2	2013-02-14	2006-03-28	2005-03-03		ENSG00000085117		"""CD molecules"", ""Tetraspanins"""	6210	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 6"", ""R2 leukocyte antigen"""	600623	"""kangai 1 (suppression of tumorigenicity 6, prostate; CD82 antigen (R2 leukocyte antigen, antigen detected by monoclonal and antibody IA4))"", ""CD82 antigen"""	ST6, KAI1			Standard	XM_006718222		Approved	R2, IA4, TSPAN27	uc001myc.3	P27701		ENST00000227155.4:c.729C>A	11.37:g.44640601C>A						CD82_uc001myd.2_Silent_p.L218L	p.L243L	NM_002231	NP_002222	P27701	CD82_HUMAN			10	977	+			243			Helical; (Potential).		D3DQN6|E9PC70|Q7Z2D4|Q7Z5N2	Silent	SNP	ENST00000227155.4	37	c.729C>A	CCDS7909.1																																																																																				0.607	CD82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389886.1			14	57	1	0	6.94e-10	9.35e-10	14	57				
ATG2A	23130	broad.mit.edu	37	11	64679357	64679357	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:64679357G>A	ENST00000377264.3	-	9	1297	c.1185C>T	c.(1183-1185)agC>agT	p.S395S	ATG2A_ENST00000421419.2_Silent_p.S395S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	395					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGGCCATGTCGCTGCGCACAG	0.637																																						uc001obx.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1183-1185)AGC>AGT		autophagy related 2A							48.0	46.0	46.0					11																	64679357		2200	4297	6497	SO:0001819	synonymous_variant	23130						protein binding	g.chr11:64679357G>A		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.1185C>T	11.37:g.64679357G>A							p.S395S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN			9	1300	-			395					O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	c.1185C>T	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	5.927	0.355013	0.11239	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.42	-5.57	0.02521	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.251	0.60052	0.6986:0.0:0.3014:0.0	.	.	.	.	X	197	.	.	R	-	1	2	ATG2A	64435933	0.000000	0.05858	0.002000	0.10522	0.088000	0.18126	-0.923000	0.04000	-1.083000	0.03097	-1.267000	0.01435	CGA		0.637	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104		5	24	0	0	0	0	5	24				
PCNXL3	399909	broad.mit.edu	37	11	65397860	65397860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:65397860G>A	ENST00000355703.3	+	27	4794	c.4255G>A	c.(4255-4257)Gag>Aag	p.E1419K		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1419						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GGCTATCACCGAGGGTGTGGA	0.637																																						uc001oey.2		NA																	0					0						c.(4255-4257)GAG>AAG		pecanex-like 3							50.0	56.0	54.0					11																	65397860		2122	4227	6349	SO:0001583	missense	399909					integral to membrane		g.chr11:65397860G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.4255G>A	11.37:g.65397860G>A	ENSP00000347931:p.Glu1419Lys					PCNXL3_uc001oez.2_Missense_Mutation_p.E306K	p.E1419K	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			27	4255	+			1419					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.4255G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369039	0.95900	.	.	ENSG00000197136	ENST00000355703	T	0.10288	2.89	4.72	4.72	0.59763	.	0.140045	0.49305	D	0.000149	T	0.37461	0.1004	M	0.87180	2.865	0.53688	D	0.99997	P;D	0.76494	0.947;0.999	P;D	0.68621	0.562;0.959	T	0.36065	-0.9763	10	0.87932	D	0	.	15.622	0.76813	0.0:0.0:1.0:0.0	.	306;1419	Q9H6A9-3;Q9H6A9	.;PCX3_HUMAN	K	1419	ENSP00000347931:E1419K	ENSP00000347931:E1419K	E	+	1	0	PCNXL3	65154436	1.000000	0.71417	0.982000	0.44146	0.954000	0.61252	9.199000	0.95003	2.637000	0.89404	0.650000	0.86243	GAG		0.637	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		24	67	0	0	0	0	24	67				
SUV420H1	51111	broad.mit.edu	37	11	67925548	67925548	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:67925548G>A	ENST00000304363.4	-	11	2618	c.2265C>T	c.(2263-2265)aaC>aaT	p.N755N		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	755					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CATAGAGATTGTTATCGTTGT	0.368																																						uc001onm.1		NA																	0				ovary(2)|kidney(1)	3						c.(2263-2265)AAC>AAT		suppressor of variegation 4-20 homolog 1 isoform							182.0	188.0	186.0					11																	67925548		2200	4294	6494	SO:0001819	synonymous_variant	51111				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr11:67925548G>A	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.2265C>T	11.37:g.67925548G>A						SUV420H1_uc009yse.1_Silent_p.N341N|SUV420H1_uc001onn.1_Silent_p.N583N|SUV420H1_uc009ysf.2_Silent_p.N515N	p.N755N	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN			11	2521	-			755					B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Silent	SNP	ENST00000304363.4	37	c.2265C>T	CCDS31623.1																																																																																				0.368	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635		58	152	0	0	0	0	58	152				
CWF19L2	143884	broad.mit.edu	37	11	107197637	107197637	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr11:107197637C>T	ENST00000282251.5	-	18	2711	c.2684G>A	c.(2683-2685)tGa>tAa	p.*895*		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	0							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		AGGTACACCTCAATAGTTTTT	0.408																																						uc010rvp.1		NA																	0					0						c.(2683-2685)TGA>TAA		CWF19-like 2, cell cycle control							89.0	93.0	91.0					11																	107197637		2201	4298	6499	SO:0001819	synonymous_variant	143884						catalytic activity	g.chr11:107197637C>T	AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2684G>A	11.37:g.107197637C>T						CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA	p.*895*	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)	18	2714	-		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)	895					A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Silent	SNP	ENST00000282251.5	37	c.2684G>A	CCDS8336.2																																																																																				0.408	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328825.2	NM_152434		11	42	0	0	0	0	11	42				
GRIN2B	2904	broad.mit.edu	37	12	13715886	13715886	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:13715886G>A	ENST00000609686.1	-	13	4495	c.4286C>T	c.(4285-4287)cCg>cTg	p.P1429L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1429					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGAGACCACCGGCTTGTTGGT	0.607																																						uc001rbt.2		NA																	0				central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(4285-4287)CCG>CTG		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						46.0	49.0	48.0					12																	13715886		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13715886G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.4286C>T	12.37:g.13715886G>A	ENSP00000477455:p.Pro1429Leu						p.P1429L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	4465	-			1429			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.4286C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983567	0.53827	.	.	ENSG00000150086	ENST00000279593	T	0.09817	2.94	5.23	5.23	0.72850	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.068636	0.64402	D	0.000015	T	0.07503	0.0189	N	0.08118	0	0.58432	D	0.999999	B	0.31026	0.304	B	0.26614	0.071	T	0.36768	-0.9734	10	0.59425	D	0.04	.	18.9946	0.92807	0.0:0.0:1.0:0.0	.	1429	Q13224	NMDE2_HUMAN	L	1429	ENSP00000279593:P1429L	ENSP00000279593:P1429L	P	-	2	0	GRIN2B	13607153	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	9.213000	0.95133	2.716000	0.92895	0.655000	0.94253	CCG		0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			16	54	0	0	0	0	16	54				
PUS7L	83448	broad.mit.edu	37	12	44148421	44148421	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:44148421C>G	ENST00000416848.2	-	2	1116	c.628G>C	c.(628-630)Gta>Cta	p.V210L	PUS7L_ENST00000551923.1_Missense_Mutation_p.V210L|PUS7L_ENST00000553166.1_Missense_Mutation_p.V210L|PUS7L_ENST00000344862.5_Missense_Mutation_p.V210L|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	210					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCTTCAGATACCAAATGACAA	0.299																																						uc001rnq.3		NA																	0				pancreas(1)	1						c.(628-630)GTA>CTA		pseudouridylate synthase 7 homolog (S.							52.0	52.0	52.0					12																	44148421		2203	4297	6500	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148421C>G	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.628G>C	12.37:g.44148421C>G	ENSP00000415899:p.Val210Leu					PUS7L_uc001rnr.3_Missense_Mutation_p.V210L|PUS7L_uc001rns.3_Missense_Mutation_p.V210L|PUS7L_uc009zkb.2_Intron	p.V210L	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1117	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	210					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.628G>C	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457391	0.26161	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.24350	1.97;1.97;1.97;1.86	5.35	5.35	0.76521	Pseudouridine synthase, catalytic domain (1);	0.310145	0.35067	N	0.003465	T	0.26412	0.0645	N	0.24115	0.695	0.80722	D	1	D	0.62365	0.991	P	0.53593	0.73	T	0.00675	-1.1615	10	0.22706	T	0.39	-19.8791	13.2362	0.59971	0.0:0.9261:0.0:0.0739	.	210	Q9H0K6	PUS7L_HUMAN	L	210	ENSP00000415899:V210L;ENSP00000343081:V210L;ENSP00000447706:V210L;ENSP00000446865:V210L	ENSP00000343081:V210L	V	-	1	0	PUS7L	42434688	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.434000	0.59935	2.894000	0.99253	0.655000	0.94253	GTA		0.299	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1	NM_031292		4	24	0	0	0	0	4	24				
KRT74	121391	broad.mit.edu	37	12	52965209	52965209	+	Silent	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:52965209C>A	ENST00000305620.2	-	4	824	c.777G>T	c.(775-777)gtG>gtT	p.V259V	KRT74_ENST00000549343.1_Silent_p.V259V	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	259	Coil 1B.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCTGAAGCTCCACCTTGACTG	0.567																																						uc001sap.1		NA																	0				ovary(1)|skin(1)	2						c.(775-777)GTG>GTT		keratin 6 irs4							196.0	156.0	169.0					12																	52965209		2203	4300	6503	SO:0001819	synonymous_variant	121391					keratin filament	structural molecule activity	g.chr12:52965209C>A	BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.777G>T	12.37:g.52965209C>A							p.V259V	NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.191)	4	825	-			259			Coil 1B.|Rod.		B5MD61|Q86Y45	Silent	SNP	ENST00000305620.2	37	c.777G>T	CCDS8832.1																																																																																				0.567	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405324.1	NM_175053		16	54	1	0	2e-07	2.65e-07	16	54				
TRHDE	29953	broad.mit.edu	37	12	72955951	72955951	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:72955951T>G	ENST00000261180.4	+	8	1756	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	554					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTAGGATTATTTAACCATTCA	0.274																																						uc001sxa.2		NA																	0				ovary(2)|skin(1)	3						c.(1660-1662)TTA>GTA		thyrotropin-releasing hormone degrading enzyme							31.0	33.0	32.0					12																	72955951		2199	4265	6464	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72955951T>G	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1660T>G	12.37:g.72955951T>G	ENSP00000261180:p.Leu554Val						p.L554V	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN			8	1690	+			554			Extracellular (Potential).		A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1660T>G	CCDS9004.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.51|19.51	3.840516|3.840516	0.71488|0.71488	.|.	.|.	ENSG00000072657|ENSG00000072657	ENST00000547300|ENST00000261180	.|T	.|0.05717	.|3.4	5.77|5.77	4.64|4.64	0.57946|0.57946	.|.	.|0.000000	.|0.64402	.|D	.|0.000001	T|T	0.22859|0.22859	0.0552|0.0552	M|M	0.87456|0.87456	2.885|2.885	0.53688|0.53688	D|D	0.999974|0.999974	.|D	.|0.62365	.|0.991	.|P	.|0.57101	.|0.813	T|T	0.01899|0.01899	-1.1251|-1.1251	5|10	.|0.87932	.|D	.|0	.|.	11.5336|11.5336	0.50624|0.50624	0.0:0.0697:0.0:0.9303|0.0:0.0697:0.0:0.9303	.|.	.|554	.|Q9UKU6	.|TRHDE_HUMAN	C|V	141|554	.|ENSP00000261180:L554V	.|ENSP00000261180:L554V	F|L	+|+	2|1	0|2	TRHDE|TRHDE	71242218|71242218	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.318000|3.318000	0.51975|0.51975	1.024000|1.024000	0.39682|0.39682	0.482000|0.482000	0.46254|0.46254	TTT|TTA		0.274	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		4	14	0	0	0	0	4	14				
GPR133	283383	broad.mit.edu	37	12	131476850	131476850	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:131476850C>T	ENST00000261654.5	+	8	1438	c.879C>T	c.(877-879)ccC>ccT	p.P293P	GPR133_ENST00000535015.1_Silent_p.P325P|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	293					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(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCCAAAGTCCCGGAGTGATAC	0.458																																						uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(877-879)CCC>CCT		G protein-coupled receptor 133 precursor							164.0	170.0	168.0					12																	131476850		2203	4300	6503	SO:0001819	synonymous_variant	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131476850C>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.879C>T	12.37:g.131476850C>T						GPR133_uc010tbm.1_Silent_p.P325P	p.P293P	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	8	1438	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		293			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Silent	SNP	ENST00000261654.5	37	c.879C>T	CCDS9272.1																																																																																				0.458	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		45	129	0	0	0	0	45	129				
MMP17	4326	broad.mit.edu	37	12	132323155	132323155	+	Splice_Site	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:132323155A>G	ENST00000360564.1	+	3	394		c.e3-1		MMP17_ENST00000535291.1_Splice_Site	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)						positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CTTTCCCTGCAGACGAGGCCA	0.667																																						uc001ujc.1		NA																	0					0						c.e3-2		matrix metalloproteinase 17 preproprotein							43.0	36.0	38.0					12																	132323155		2203	4300	6503	SO:0001630	splice_region_variant	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132323155A>G	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.293-1A>G	12.37:g.132323155A>G						MMP17_uc001ujd.1_Splice_Site_p.D14_splice	p.D98_splice	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	3	392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)							Q14850	Splice_Site	SNP	ENST00000360564.1	37	c.293_splice	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	A	12.66	2.005942	0.35415	.	.	ENSG00000198598	ENST00000360564;ENST00000545790;ENST00000535291	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3557	0.60627	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MMP17	130889108	1.000000	0.71417	0.825000	0.32803	0.343000	0.28985	8.595000	0.90840	1.749000	0.51849	0.418000	0.28097	.		0.667	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155	Intron	4	13	0	0	0	0	4	13				
AMER2	219287	broad.mit.edu	37	13	25744231	25744231	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr13:25744231C>T	ENST00000515384.1	-	1	2194	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P	AMER2_ENST00000381853.3_Silent_p.P390P|AMER2_ENST00000357816.2_Silent_p.P390P|AMER2-AS1_ENST00000413501.1_lincRNA			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	509					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)										GCTCCTTCTCCGGGTGCTTGG	0.652																																						uc001uqb.2		NA																	0				ovary(2)|large_intestine(1)|lung(1)	4						c.(1525-1527)CCG>CCA		hypothetical protein LOC219287 isoform 1							61.0	56.0	58.0					13																	25744231		2203	4300	6503	SO:0001819	synonymous_variant	219287							g.chr13:25744231C>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1527G>A	13.37:g.25744231C>T						FAM123A_uc001uqa.2_Silent_p.P390P|FAM123A_uc001uqc.2_Silent_p.P390P	p.P509P	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1627	-		Lung SC(185;0.0225)|Breast(139;0.0602)	509					Q5RL80|Q5VX56|Q8N593|Q96NN5	Silent	SNP	ENST00000515384.1	37	c.1527G>A	CCDS53859.1																																																																																				0.652	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		18	65	0	0	0	0	18	65				
ATP8A2	51761	broad.mit.edu	37	13	26104781	26104781	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr13:26104781G>A	ENST00000381655.2	+	4	545	c.403G>A	c.(403-405)Gag>Aag	p.E135K	ATP8A2_ENST00000255283.8_Missense_Mutation_p.E95K	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	95					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGGCATCAAAGAGATTGTAGA	0.353																																						uc001uqk.2		NA																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(403-405)GAG>AAG		ATPase, aminophospholipid transporter-like,							81.0	71.0	74.0					13																	26104781		1809	4072	5881	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26104781G>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.403G>A	13.37:g.26104781G>A	ENSP00000371070:p.Glu135Lys					ATP8A2_uc010tdi.1_Missense_Mutation_p.E95K|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.E95K	p.E135K	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	4	545	+		Breast(139;0.0201)|Lung SC(185;0.0225)	95			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.403G>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	34	5.307961	0.95629	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000381648	T;T	0.77229	-1.08;-1.08	5.37	5.37	0.77165	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.095862	0.64402	D	0.000001	D	0.91805	0.7407	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.93838	0.7134	10	0.87932	D	0	.	19.1059	0.93294	0.0:0.0:1.0:0.0	.	95;95;95	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	K	135;95;95	ENSP00000371070:E135K;ENSP00000255283:E95K	ENSP00000255283:E95K	E	+	1	0	ATP8A2	25002781	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.758000	0.98927	2.516000	0.84829	0.551000	0.68910	GAG		0.353	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		4	16	0	0	0	0	4	16				
CHD8	57680	broad.mit.edu	37	14	21881157	21881157	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:21881157T>C	ENST00000557364.1	-	10	2406		c.e10-2		CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Splice_Site|CHD8_ENST00000399982.2_Splice_Site			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8						ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTCTTCATCCTAGATGAGTTA	0.423																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.e10-1		chromodomain helicase DNA binding protein 8							108.0	99.0	102.0					14																	21881157		1898	4120	6018	SO:0001630	splice_region_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21881157T>C	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.2143-2A>G	14.37:g.21881157T>C						CHD8_uc001war.1_Splice_Site_p.D332_splice	p.D436_splice	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	10	1400	-	all_cancers(95;0.00121)							Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Splice_Site	SNP	ENST00000557364.1	37	c.1306_splice	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339540	0.41398	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3099	0.54922	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD8	20950997	1.000000	0.71417	0.993000	0.49108	0.649000	0.38597	5.014000	0.64029	2.097000	0.63578	0.459000	0.35465	.		0.423	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920	Intron	6	20	0	0	0	0	6	20				
DHRS7	51635	broad.mit.edu	37	14	60616104	60616104	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:60616104C>T	ENST00000216500.5	-	7	1394	c.939G>A	c.(937-939)ggG>ggA	p.G313G	DHRS7_ENST00000536410.2_Silent_p.G263G|DHRS7_ENST00000557185.1_Silent_p.G313G|PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'Flank			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	313						membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		TCCTTTTCTTCCCCATCTTGT	0.383																																						uc001xes.2		NA																	0				ovary(1)	1						c.(937-939)GGG>GGA		dehydrogenase/reductase (SDR family) member 7							134.0	135.0	135.0					14																	60616104		2203	4300	6503	SO:0001819	synonymous_variant	51635						binding|oxidoreductase activity	g.chr14:60616104C>T	AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.939G>A	14.37:g.60616104C>T						C14orf135_uc001xeq.2_Intron|DHRS7_uc001xet.2_Silent_p.G263G|DHRS7_uc001xeu.2_Silent_p.G313G	p.G313G	NM_016029	NP_057113	Q9Y394	DHRS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.121)	6	1123	-			313					B2R896|Q9UKU2	Silent	SNP	ENST00000216500.5	37	c.939G>A	CCDS9743.1	.	.	.	.	.	.	.	.	.	.	C	7.045	0.563378	0.13498	.	.	ENSG00000100612	ENST00000360557;ENST00000554101	D	0.83992	-1.79	5.7	-7.93	0.01156	.	0.534894	0.22855	N	0.054810	T	0.79787	0.4506	.	.	.	0.43662	D	0.996087	.	.	.	.	.	.	T	0.75852	-0.3171	7	0.56958	D	0.05	.	6.5134	0.22234	0.0763:0.1283:0.2206:0.5748	.	.	.	.	E	312;308	ENSP00000450899:G308E	ENSP00000353759:G312E	G	-	2	0	DHRS7	59685857	0.223000	0.23663	0.019000	0.16419	0.933000	0.57130	-0.552000	0.06020	-1.025000	0.03334	-0.150000	0.13652	GGA		0.383	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276947.2	NM_016029		15	56	0	0	0	0	15	56				
SYNE2	23224	broad.mit.edu	37	14	64518705	64518705	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:64518705A>G	ENST00000344113.4	+	48	8286	c.8074A>G	c.(8074-8076)Agg>Ggg	p.R2692G	SYNE2_ENST00000554584.1_Missense_Mutation_p.R2725G|SYNE2_ENST00000358025.3_Missense_Mutation_p.R2692G|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2692					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCAGATGAAGAGGATTTGGGG	0.418																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(8074-8076)AGG>GGG		spectrin repeat containing, nuclear envelope 2							73.0	72.0	73.0					14																	64518705		1854	4097	5951	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64518705A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8074A>G	14.37:g.64518705A>G	ENSP00000341781:p.Arg2692Gly					SYNE2_uc001xgl.2_Missense_Mutation_p.R2692G	p.R2692G	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	48	8304	+			2692			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.8074A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	14.13	2.445076	0.43429	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59906	0.62;0.62;0.23	5.68	4.51	0.55191	.	0.000000	0.64402	D	0.000009	T	0.63965	0.2556	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.61237	-0.7103	10	0.37606	T	0.19	.	11.5016	0.50441	0.8499:0.1501:0.0:0.0	.	2692;2692	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	G	2692;2692;2725;2725	ENSP00000350719:R2692G;ENSP00000341781:R2692G;ENSP00000452570:R2725G	ENSP00000261678:R2725G	R	+	1	2	SYNE2	63588458	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.409000	0.52657	0.941000	0.37499	0.460000	0.39030	AGG		0.418	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		15	87	0	0	0	0	15	87				
ATG2B	55102	broad.mit.edu	37	14	96756776	96756776	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr14:96756776T>C	ENST00000359933.4	-	40	6746	c.5853A>G	c.(5851-5853)atA>atG	p.I1951M	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1951					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAGATACCTGTATGGTTTGAA	0.423																																						uc001yfi.2		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(5851-5853)ATA>ATG		ATG2 autophagy related 2 homolog B							71.0	69.0	70.0					14																	96756776		2203	4300	6503	SO:0001583	missense	55102							g.chr14:96756776T>C	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5853A>G	14.37:g.96756776T>C	ENSP00000353010:p.Ile1951Met						p.I1951M	NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	40	6218	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1951					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.5853A>G	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	T	18.13	3.556088	0.65425	.	.	ENSG00000066739	ENST00000359933	T	0.11277	2.79	4.98	2.48	0.30137	.	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	M	0.69823	2.125	0.49389	D	0.999784	D	0.76494	0.999	D	0.83275	0.996	T	0.00466	-1.1722	10	0.49607	T	0.09	.	7.3278	0.26566	0.1364:0.0:0.2846:0.579	.	1951	Q96BY7	ATG2B_HUMAN	M	1951	ENSP00000353010:I1951M	ENSP00000261834:I595M	I	-	3	3	ATG2B	95826529	1.000000	0.71417	0.989000	0.46669	0.954000	0.61252	1.379000	0.34340	0.284000	0.22305	0.528000	0.53228	ATA		0.423	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		23	65	0	0	0	0	23	65				
SPESP1	246777	broad.mit.edu	37	15	69238803	69238803	+	Silent	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:69238803C>G	ENST00000310673.3	+	2	1084	c.930C>G	c.(928-930)ctC>ctG	p.L310L	NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	310					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GATCTAAACTCTATGAATATT	0.318																																						uc002arn.1		NA																	0					0						c.(928-930)CTC>CTG		sperm equatorial segment protein 1 precursor							52.0	58.0	56.0					15																	69238803		2191	4288	6479	SO:0001819	synonymous_variant	246777				multicellular organismal development	acrosomal vesicle		g.chr15:69238803C>G	AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.930C>G	15.37:g.69238803C>G						NOX5_uc002arp.1_Intron|NOX5_uc002arq.1_Intron|NOX5_uc010bid.1_Intron|NOX5_uc002aro.2_Intron	p.L310L	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN			2	1058	+			310					Q8NG22|Q8WVH8	Silent	SNP	ENST00000310673.3	37	c.930C>G	CCDS10230.1																																																																																				0.318	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1	NM_145658		15	42	0	0	0	0	15	42				
ADAMTSL3	57188	broad.mit.edu	37	15	84651117	84651117	+	Missense_Mutation	SNP	C	C	T	rs370008263		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:84651117C>T	ENST00000286744.5	+	21	2961	c.2737C>T	c.(2737-2739)Cgt>Tgt	p.R913C	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R913C	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	913	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGAAGAGAAGCGTATTAACCT	0.473																																						uc002bjz.3		NA																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2737-2739)CGT>TGT		ADAMTS-like 3 precursor							152.0	135.0	141.0					15																	84651117		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651117C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2737C>T	15.37:g.84651117C>T	ENSP00000286744:p.Arg913Cys					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R913C|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.R913C	p.R913C	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	2961	+			913			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2737C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.447143	0.84101	.	.	ENSG00000156218	ENST00000286744	T	0.66638	-0.22	5.05	4.12	0.48240	Immunoglobulin-like (1);	0.215747	0.23682	N	0.045613	T	0.79405	0.4440	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.81346	-0.0974	10	0.72032	D	0.01	.	15.0603	0.71947	0.1425:0.8575:0.0:0.0	.	913;913	P82987-2;P82987	.;ATL3_HUMAN	C	913	ENSP00000286744:R913C	ENSP00000286744:R913C	R	+	1	0	ADAMTSL3	82442121	0.997000	0.39634	0.981000	0.43875	0.993000	0.82548	2.373000	0.44266	1.088000	0.41272	0.563000	0.77884	CGT		0.473	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		18	84	0	0	0	0	18	84				
NTRK3	4916	broad.mit.edu	37	15	88799155	88799155	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:88799155G>C	ENST00000360948.2	-	2	391	c.230C>G	c.(229-231)tCa>tGa	p.S77*	NTRK3_ENST00000540489.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000394480.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000317501.3_Nonsense_Mutation_p.S77*|NTRK3-AS1_ENST00000569588.1_lincRNA|NTRK3_ENST00000558676.1_Nonsense_Mutation_p.S77*|NTRK3_ENST00000355254.2_Nonsense_Mutation_p.S77*|NTRK3_ENST00000557856.1_Nonsense_Mutation_p.S77*|NTRK3_ENST00000357724.2_Nonsense_Mutation_p.S77*	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	77					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GATATTCCTTGAGATGTCCGT	0.647			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1		NA		Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	0				soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(229-231)TCA>TGA		neurotrophic tyrosine kinase, receptor, type 3							321.0	252.0	275.0					15																	88799155		2201	4299	6500	SO:0001587	stop_gained	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88799155G>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.230C>G	15.37:g.88799155G>C	ENSP00000354207:p.Ser77*	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Nonsense_Mutation_p.S77*|NTRK3_uc002bmf.1_Nonsense_Mutation_p.S77*|NTRK3_uc010bnh.1_Nonsense_Mutation_p.S77*|NTRK3_uc002bmg.2_Nonsense_Mutation_p.S77*	p.S77*	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		2	392	-			77			Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Nonsense_Mutation	SNP	ENST00000360948.2	37	c.230C>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981428	0.93044	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000540489;ENST00000317501	.	.	.	4.62	4.62	0.57501	.	0.157554	0.27735	N	0.018078	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	16.0092	0.80385	0.0:0.0:1.0:0.0	.	.	.	.	X	77	.	ENSP00000318328:S77X	S	-	2	0	NTRK3	86600159	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	5.771000	0.68881	2.092000	0.63282	0.455000	0.32223	TCA		0.647	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				19	60	0	0	0	0	19	60				
ZNF710	374655	broad.mit.edu	37	15	90611533	90611533	+	Silent	SNP	C	C	T	rs144375764		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr15:90611533C>T	ENST00000268154.4	+	2	1415	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCGCGGCTTCGCCTACCCCA	0.642																																						uc002bov.1		NA																	0				central_nervous_system(1)	1						c.(1162-1164)TTC>TTT		zinc finger protein 710		C		0,4400		0,0,2200	38.0	43.0	41.0		1164	-3.2	1.0	15	dbSNP_134	41	4,8592	3.7+/-12.6	0,4,4294	no	coding-synonymous	ZNF710	NM_198526.2		0,4,6494	TT,TC,CC		0.0465,0.0,0.0308		388/665	90611533	4,12992	2200	4298	6498	SO:0001819	synonymous_variant	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90611533C>T	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1164C>T	15.37:g.90611533C>T							p.F388F	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		2	1287	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		388			C2H2-type 4.		A0AVS3|Q6ZMK9|Q8NDU0	Silent	SNP	ENST00000268154.4	37	c.1164C>T	CCDS10358.1																																																																																				0.642	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		13	46	0	0	0	0	13	46				
PDILT	204474	broad.mit.edu	37	16	20371931	20371931	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:20371931G>A	ENST00000302451.4	-	11	1713	c.1465C>T	c.(1465-1467)Ctg>Ttg	p.L489L		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	489					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGCTTTCCAGGAAGTCAGAG	0.473																																						uc002dhc.1		NA																	0				large_intestine(1)	1						c.(1465-1467)CTG>TTG		protein disulfide isomerase-like, testis							218.0	198.0	205.0					16																	20371931		2203	4300	6503	SO:0001819	synonymous_variant	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20371931G>A		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.1465C>T	16.37:g.20371931G>A							p.L489L	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			11	1688	-			489					Q8IVQ5	Silent	SNP	ENST00000302451.4	37	c.1465C>T	CCDS10584.1																																																																																				0.473	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		50	190	0	0	0	0	50	190				
TNRC6A	27327	broad.mit.edu	37	16	24801451	24801451	+	Silent	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:24801451A>T	ENST00000395799.3	+	6	1617	c.1488A>T	c.(1486-1488)ccA>ccT	p.P496P	TNRC6A_ENST00000315183.7_Silent_p.P496P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	496	Interaction with argonaute family proteins.|Sufficient for interaction with AGO1, AGO3 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGCAGGCTCCATCAGGTATGA	0.473																																						uc002dmm.2		NA																	0				ovary(2)	2						c.(1486-1488)CCA>CCT		trinucleotide repeat containing 6A							92.0	85.0	88.0					16																	24801451		2197	4300	6497	SO:0001819	synonymous_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24801451A>T	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.1488A>T	16.37:g.24801451A>T						TNRC6A_uc010bxs.2_Silent_p.P243P|TNRC6A_uc010vcc.1_Silent_p.P243P|TNRC6A_uc002dmn.2_Silent_p.P243P|TNRC6A_uc002dmo.2_Silent_p.P243P	p.P496P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	6	1602	+			496			Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	ENST00000395799.3	37	c.1488A>T	CCDS10624.2																																																																																				0.473	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		13	91	0	0	0	0	13	91				
ATP2A1	487	broad.mit.edu	37	16	28912067	28912067	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr16:28912067G>A	ENST00000357084.3	+	15	2197	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	ATP2A1_ENST00000536376.1_Missense_Mutation_p.E519K|ATP2A1_ENST00000395503.4_Missense_Mutation_p.E644K	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	644					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATCTTTGGGGAGAACGAGGA	0.642																																						uc002dro.1		NA																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1930-1932)GAG>AAG		ATPase, Ca++ transporting, fast twitch 1 isoform							93.0	76.0	82.0					16																	28912067		2197	4300	6497	SO:0001583	missense	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28912067G>A		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.1930G>A	16.37:g.28912067G>A	ENSP00000349595:p.Glu644Lys					uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.E644K|ATP2A1_uc002drp.1_Missense_Mutation_p.E519K	p.E644K	NM_173201	NP_775293	O14983	AT2A1_HUMAN			15	2114	+			644			Cytoplasmic (By similarity).		A8K5J9|B3KY17|O14984	Missense_Mutation	SNP	ENST00000357084.3	37	c.1930G>A	CCDS10643.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701884	0.68501	.	.	ENSG00000196296	ENST00000357084;ENST00000395503;ENST00000395498;ENST00000536376	D;D;D	0.99023	-5.34;-5.34;-5.34	5.31	4.35	0.52113	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.048167	0.85682	D	0.000000	D	0.97548	0.9197	L	0.55103	1.725	0.52501	D	0.999951	B;B;B	0.28400	0.21;0.023;0.019	B;B;B	0.29524	0.103;0.053;0.043	D	0.96994	0.9724	10	0.33141	T	0.24	.	14.9982	0.71449	0.0:0.1436:0.8564:0.0	.	519;644;644	B3KY17;O14983;O14983-2	.;AT2A1_HUMAN;.	K	644;644;681;519	ENSP00000349595:E644K;ENSP00000378879:E644K;ENSP00000443101:E519K	ENSP00000349595:E644K	E	+	1	0	ATP2A1	28819568	1.000000	0.71417	0.548000	0.28192	0.969000	0.65631	9.783000	0.99037	1.233000	0.43693	0.485000	0.47835	GAG		0.642	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2	NM_004320		15	64	0	0	0	0	15	64				
WSCD1	23302	broad.mit.edu	37	17	5993711	5993711	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:5993711G>A	ENST00000574946.1	+	4	1003	c.613G>A	c.(613-615)Gtg>Atg	p.V205M	WSCD1_ENST00000573634.1_Missense_Mutation_p.V89M|WSCD1_ENST00000574232.1_Missense_Mutation_p.V205M|WSCD1_ENST00000539421.1_Missense_Mutation_p.V205M|WSCD1_ENST00000317744.5_Missense_Mutation_p.V205M			Q658N2	WSCD1_HUMAN	WSC domain containing 1	205	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						AGCGGTGAGCGTGGGGCTGGA	0.662																																						uc010cli.2		NA																	0					0						c.(613-615)GTG>ATG		WSC domain containing 1							66.0	63.0	64.0					17																	5993711		2203	4300	6503	SO:0001583	missense	23302					integral to membrane	sulfotransferase activity	g.chr17:5993711G>A		CCDS32538.1	17p13.2	2008-02-05				ENSG00000179314			29060	protein-coding gene	gene with protein product							Standard	XM_005256572		Approved	KIAA0523	uc002gcn.3	Q658N2		ENST00000574946.1:c.613G>A	17.37:g.5993711G>A	ENSP00000460825:p.Val205Met					WSCD1_uc002gcn.2_Missense_Mutation_p.V205M|WSCD1_uc002gco.2_Missense_Mutation_p.V205M|WSCD1_uc010clj.2_Translation_Start_Site	p.V205M	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN			4	992	+			205			WSC 1.		A8K0N8|D3DTM3|O60276|Q96G45	Missense_Mutation	SNP	ENST00000574946.1	37	c.613G>A	CCDS32538.1	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900780	0.17686	.	.	ENSG00000179314	ENST00000317744;ENST00000539421	T;T	0.56275	0.47;0.47	6.04	2.7	0.31948	Carbohydrate-binding WSC (2);Carbohydrate-binding WSC, subgroup (1);	0.433356	0.23694	N	0.045496	T	0.46132	0.1377	M	0.64676	1.99	0.09310	N	1	B	0.19331	0.035	B	0.13407	0.009	T	0.39583	-0.9607	10	0.40728	T	0.16	-27.2974	8.9378	0.35711	0.1481:0.0:0.7217:0.1301	.	205	Q658N2	WSCD1_HUMAN	M	205	ENSP00000323087:V205M;ENSP00000446032:V205M	ENSP00000323087:V205M	V	+	1	0	WSCD1	5934435	0.033000	0.19621	0.008000	0.14137	0.034000	0.12701	1.021000	0.30040	0.897000	0.36392	0.563000	0.77884	GTG		0.662	WSCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438965.4	NM_015253		17	59	0	0	0	0	17	59				
TP53	7157	broad.mit.edu	37	17	7578196	7578196	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578196A>C	ENST00000269305.4	-	6	842	c.653T>G	c.(652-654)gTg>gGg	p.V218G	TP53_ENST00000413465.2_Missense_Mutation_p.V218G|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V218G|TP53_ENST00000445888.2_Missense_Mutation_p.V218G|TP53_ENST00000359597.4_Missense_Mutation_p.V218G|TP53_ENST00000420246.2_Missense_Mutation_p.V218G	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	218	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.V218E(8)|p.0?(8)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCATAGGGCACCACCACACT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		50	Substitution - Missense(16)|Unknown(11)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(5)|Complex - deletion inframe(1)	p.V218E(8)|p.V218M(7)|p.0?(7)|p.V218G(5)|p.V218del(5)|p.V218A(3)|p.D208fs*1(1)|p.V216fs*28(1)|p.V218fs*26(1)|p.?(1)|p.S215_V218>R(1)|p.T211fs*28(1)|p.V218_P219insX(1)|p.V218L(1)|p.V218V(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.K164_P219del(1)|p.S215fs*27(1)|p.V218_Y220delVPY(1)|p.V216_Y220delVVVPY(1)	oesophagus(7)|endometrium(6)|upper_aerodigestive_tract(5)|biliary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(3)|liver(3)|lung(3)|ovary(3)|stomach(2)|large_intestine(2)|cervix(1)|urinary_tract(1)|breast(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CI084336	TP53	I		c.(652-654)GTG>GGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							116.0	105.0	109.0					17																	7578196		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578196A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.653T>G	17.37:g.7578196A>C	ENSP00000269305:p.Val218Gly	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.V218G|TP53_uc002gih.2_Missense_Mutation_p.V218G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V86G|TP53_uc010cng.1_Missense_Mutation_p.V86G|TP53_uc002gii.1_Missense_Mutation_p.V86G|TP53_uc010cnh.1_Missense_Mutation_p.V218G|TP53_uc010cni.1_Missense_Mutation_p.V218G|TP53_uc002gij.2_Missense_Mutation_p.V218G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V125G|TP53_uc002gio.2_Missense_Mutation_p.V86G|TP53_uc010vug.1_Missense_Mutation_p.V179G	p.V218G	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	847	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	218		V -> A (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.653T>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.438634	0.83885	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99884	-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49;-7.49	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99896	0.9950	M	0.90977	3.165	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96088	0.9059	10	0.87932	D	0	-6.4964	13.4753	0.61306	1.0:0.0:0.0:0.0	.	179;218;218;125;218;218;218	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	218;218;218;218;218;218;207;125;86;125	ENSP00000410739:V218G;ENSP00000352610:V218G;ENSP00000269305:V218G;ENSP00000398846:V218G;ENSP00000391127:V218G;ENSP00000391478:V218G;ENSP00000425104:V86G;ENSP00000423862:V125G	ENSP00000269305:V218G	V	-	2	0	TP53	7518921	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.287000	0.95975	2.128000	0.65567	0.460000	0.39030	GTG		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	26	0	0	0	0	9	26				
MYH13	8735	broad.mit.edu	37	17	10248895	10248895	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:10248895G>A	ENST00000418404.3	-	13	1465	c.1302C>T	c.(1300-1302)taC>taT	p.Y434Y	MYH13_ENST00000252172.4_Silent_p.Y434Y			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	434	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACATCTTCTCGTAGACGGCTT	0.517																																						uc002gmk.1		NA																	0				ovary(4)|skin(2)	6						c.(1300-1302)TAC>TAT		myosin, heavy polypeptide 13, skeletal muscle							163.0	154.0	157.0					17																	10248895		2203	4300	6503	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10248895G>A	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.1302C>T	17.37:g.10248895G>A						MYH13_uc010vvf.1_Silent_p.Y109Y	p.Y434Y	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			14	1392	-			434			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.1302C>T	CCDS45613.1																																																																																				0.517	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		36	125	0	0	0	0	36	125				
ABHD15	116236	broad.mit.edu	37	17	27889938	27889938	+	Missense_Mutation	SNP	C	C	A	rs374284598		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:27889938C>A	ENST00000307201.4	-	2	1218	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	350						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGCACAGGCACGGCTGCCTCA	0.582																																						uc002hed.1		NA																	0					0						c.(1048-1050)GTG>TTG		abhydrolase domain containing 15 precursor							78.0	72.0	74.0					17																	27889938		2203	4300	6503	SO:0001583	missense	116236					extracellular region	carboxylesterase activity	g.chr17:27889938C>A	AK056717	CCDS32602.1	17q11.2	2009-11-20			ENSG00000168792	ENSG00000168792		"""Abhydrolase domain containing"""	26971	protein-coding gene	gene with protein product						12975309	Standard	NM_198147		Approved		uc002hed.2	Q6UXT9		ENST00000307201.4:c.1048G>T	17.37:g.27889938C>A	ENSP00000302657:p.Val350Leu						p.V350L	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN			2	1112	-			350					Q96EC5	Missense_Mutation	SNP	ENST00000307201.4	37	c.1048G>T	CCDS32602.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360014	0.82353	.	.	ENSG00000168792	ENST00000307201	T	0.73575	-0.76	5.68	5.68	0.88126	.	0.074930	0.53938	D	0.000047	D	0.84197	0.5419	M	0.66939	2.045	0.42611	D	0.993311	D	0.63880	0.993	P	0.62014	0.897	D	0.84963	0.0878	10	0.59425	D	0.04	-12.6589	18.3745	0.90431	0.0:1.0:0.0:0.0	.	350	Q6UXT9	ABH15_HUMAN	L	350	ENSP00000302657:V350L	ENSP00000302657:V350L	V	-	1	0	ABHD15	24914064	0.944000	0.32072	0.450000	0.26969	0.880000	0.50808	2.156000	0.42310	2.702000	0.92279	0.655000	0.94253	GTG		0.582	ABHD15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447796.2	NM_198147		7	47	1	0	0.000673444	0.000858966	7	47				
TMEM132E	124842	broad.mit.edu	37	17	32953441	32953441	+	Silent	SNP	G	G	A	rs541603154		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:32953441G>A	ENST00000321639.5	+	2	691	c.363G>A	c.(361-363)acG>acA	p.T121T		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	121						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGCGCCTGACGGTGAACTGGA	0.697													g|||	1	0.000199681	0.0	0.0	5008	,	,		12572	0.0		0.0	False		,,,				2504	0.001					uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(361-363)ACG>ACA		transmembrane protein 132E precursor							23.0	25.0	24.0					17																	32953441		2202	4298	6500	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32953441G>A	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.363G>A	17.37:g.32953441G>A							p.T121T	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	2	691	+			121			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.363G>A	CCDS11283.1																																																																																				0.697	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		6	25	0	0	0	0	6	25				
CEP95	90799	broad.mit.edu	37	17	62533807	62533807	+	Silent	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:62533807T>C	ENST00000556440.2	+	20	2886	c.2376T>C	c.(2374-2376)gaT>gaC	p.D792D	CEP95_ENST00000553412.1_Silent_p.D628D	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	792						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)				endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						AGAATGATGATGATGTTTTCT	0.458																																						uc002jem.2		NA																	0					0						c.(2374-2376)GAT>GAC		coiled-coil domain containing 45							69.0	69.0	69.0					17																	62533807		1959	4151	6110	SO:0001819	synonymous_variant	90799					centrosome|spindle pole	protein binding	g.chr17:62533807T>C	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2376T>C	17.37:g.62533807T>C						CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Silent_p.D628D	p.D792D	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		20	2434	+	Breast(5;1.32e-14)		792			Potential.		B4DMD2|Q96M81	Silent	SNP	ENST00000556440.2	37	c.2376T>C	CCDS45763.1																																																																																				0.458	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		6	27	0	0	0	0	6	27				
CDK3	1018	broad.mit.edu	37	17	74001438	74001438	+	Silent	SNP	G	G	A	rs150329289		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:74001438G>A	ENST00000425876.2	+	7	940	c.852G>A	c.(850-852)ccG>ccA	p.P284P	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Silent_p.P284P			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	284	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						TGGCCCACCCGTACTTCTCAT	0.582																																						uc010dgt.2		NA																	0				central_nervous_system(1)	1						c.(850-852)CCG>CCA		cyclin-dependent kinase 3		G		0,4406		0,0,2203	86.0	70.0	75.0		852	-8.4	0.1	17	dbSNP_134	75	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDK3	NM_001258.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		284/306	74001438	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:74001438G>A	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.852G>A	17.37:g.74001438G>A						CDK3_uc002jqg.3_Silent_p.P312P	p.P284P	NM_001258	NP_001249	Q00526	CDK3_HUMAN			8	928	+			284			Protein kinase.			Silent	SNP	ENST00000425876.2	37	c.852G>A	CCDS11736.1																																																																																				0.582	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		12	53	0	0	0	0	12	53				
POTEC	388468	broad.mit.edu	37	18	14530502	14530502	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:14530502G>C	ENST00000358970.5	-	6	1105	c.1106C>G	c.(1105-1107)tCt>tGt	p.S369C	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	369										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GTTTTCAGAAGAGATTTTTAG	0.303																																						uc010dln.2		NA																	0				skin(3)	3						c.(1105-1107)TCT>TGT		ANKRD26-like family B, member 2																																				SO:0001583	missense	388468							g.chr18:14530502G>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1106C>G	18.37:g.14530502G>C	ENSP00000351856:p.Ser369Cys					POTEC_uc010xaj.1_RNA	p.S369C	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			6	1560	-			369			ANK 7.			Missense_Mutation	SNP	ENST00000358970.5	37	c.1106C>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	G	5.283	0.237571	0.10023	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.18960	2.18	1.37	-2.73	0.05950	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.11965	0.0291	N	0.24115	0.695	0.09310	N	1	P	0.46395	0.877	B	0.43916	0.436	T	0.09997	-1.0649	9	0.72032	D	0.01	.	0.4964	0.00572	0.1877:0.2425:0.325:0.2448	.	369	B2RU33	POTEC_HUMAN	C	369	ENSP00000351856:S369C	ENSP00000351856:S369C	S	-	2	0	POTEC	14520502	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	-0.051000	0.11885	-0.848000	0.04163	-1.111000	0.02071	TCT		0.303	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	27	0	0	0	0	3	27				
ROCK1	6093	broad.mit.edu	37	18	18622625	18622625	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:18622625T>C	ENST00000399799.2	-	7	1661	c.721A>G	c.(721-723)Att>Gtt	p.I241V		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	241	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TCAGGGGAAATATAATCAGGT	0.393																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(721-723)ATT>GTT		Rho-associated, coiled-coil containing protein							111.0	102.0	105.0					18																	18622625		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18622625T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.721A>G	18.37:g.18622625T>C	ENSP00000382697:p.Ile241Val						p.I241V	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			7	1662	-	Melanoma(1;0.165)		241			Protein kinase.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.721A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	27.3	4.814576	0.90790	.	.	ENSG00000067900	ENST00000399799	T	0.24151	1.87	4.83	4.83	0.62350	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.159640	0.52532	D	0.000078	T	0.24509	0.0594	N	0.03115	-0.41	0.80722	D	1	P	0.39424	0.673	P	0.53689	0.732	T	0.42189	-0.9466	10	0.87932	D	0	.	14.8815	0.70537	0.0:0.0:0.0:1.0	.	241	Q13464	ROCK1_HUMAN	V	241	ENSP00000382697:I241V	ENSP00000382697:I241V	I	-	1	0	ROCK1	16876623	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.168000	0.68352	0.533000	0.62120	ATT		0.393	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		10	32	0	0	0	0	10	32				
MIB1	57534	broad.mit.edu	37	18	19429197	19429197	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr18:19429197G>C	ENST00000261537.6	+	17	2698	c.2434G>C	c.(2434-2436)Gat>Cat	p.D812H	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	812					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D812Y(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GATTAGTAATGATTCTGAAAC	0.348																																						uc002ktq.2		NA																	1	Substitution - Missense(1)		large_intestine(1)	ovary(4)	4						c.(2434-2436)GAT>CAT		mindbomb homolog 1							200.0	200.0	200.0					18																	19429197		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429197G>C	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2434G>C	18.37:g.19429197G>C	ENSP00000261537:p.Asp812His					MIB1_uc002ktp.2_Missense_Mutation_p.D451H	p.D812H	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2434	+			812					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2434G>C	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703794	0.48412	.	.	ENSG00000101752	ENST00000261537	T	0.37915	1.17	5.33	5.33	0.75918	.	0.048325	0.85682	D	0.000000	T	0.41305	0.1153	N	0.08118	0	0.53688	D	0.999975	D	0.61697	0.99	D	0.70487	0.969	T	0.48328	-0.9045	10	0.36615	T	0.2	-20.6605	19.042	0.93004	0.0:0.0:1.0:0.0	.	812	Q86YT6	MIB1_HUMAN	H	812	ENSP00000261537:D812H	ENSP00000261537:D812H	D	+	1	0	MIB1	17683195	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.391000	0.79828	2.494000	0.84150	0.585000	0.79938	GAT		0.348	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		47	198	0	0	0	0	47	198				
CREB3L3	84699	broad.mit.edu	37	19	4164536	4164536	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:4164536C>T	ENST00000078445.2	+	5	760	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CREB3L3_ENST00000602257.1_Missense_Mutation_p.P203S|CREB3L3_ENST00000252587.3_Missense_Mutation_p.P145S|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P205S|CREB3L3_ENST00000595923.1_Missense_Mutation_p.P204S	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	205					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCTGCGACCTGGGGCTGG	0.582																																						uc002lzl.2		NA																	0				ovary(1)|skin(1)	2						c.(613-615)CCT>TCT		cAMP responsive element binding protein 3-like							91.0	88.0	89.0					19																	4164536		2203	4300	6503	SO:0001583	missense	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4164536C>T		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.613C>T	19.37:g.4164536C>T	ENSP00000078445:p.Pro205Ser					CREB3L3_uc002lzm.2_Missense_Mutation_p.P195S|CREB3L3_uc010xib.1_Missense_Mutation_p.P194S|CREB3L3_uc010xic.1_Missense_Mutation_p.P196S	p.P205S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	5	729	+			205			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	c.613C>T	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.301412	0.40694	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.84944	-1.92;-1.92	4.93	4.93	0.64822	.	1.057440	0.07253	N	0.866189	D	0.91033	0.7179	L	0.53729	1.69	0.28670	N	0.905672	D;D;P;P	0.76494	0.999;0.958;0.909;0.852	D;P;P;B	0.67548	0.952;0.555;0.555;0.353	T	0.83050	-0.0153	10	0.36615	T	0.2	2.0441	16.6973	0.85339	0.0:1.0:0.0:0.0	.	205;203;204;205	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	S	205;205;145	ENSP00000078445:P205S;ENSP00000252587:P145S	ENSP00000078445:P205S	P	+	1	0	CREB3L3	4115536	0.005000	0.15991	0.047000	0.18901	0.010000	0.07245	1.084000	0.30828	2.271000	0.75665	0.511000	0.50034	CCT		0.582	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607		19	94	0	0	0	0	19	94				
KHSRP	8570	broad.mit.edu	37	19	6422368	6422368	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:6422368C>T	ENST00000398148.3	-	2	421	c.329G>A	c.(328-330)aGa>aAa	p.R110K		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	110	Gly-rich.				gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCCAACTGTCTCTTTTGGCC	0.493																																					Colon(55;593 1006 2067 9135 22980)	uc002mer.3		NA																	0				skin(1)	1						c.(328-330)AGA>AAA		KH-type splicing regulatory protein							127.0	131.0	130.0					19																	6422368		1910	4114	6024	SO:0001583	missense	8570				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	g.chr19:6422368C>T	U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945		ENST00000398148.3:c.329G>A	19.37:g.6422368C>T	ENSP00000381216:p.Arg110Lys						p.R110K	NM_003685	NP_003676	Q92945	FUBP2_HUMAN			2	439	-			110			Gly-rich.		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	ENST00000398148.3	37	c.329G>A	CCDS45936.1	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482614	0.63962	.	.	ENSG00000088247	ENST00000398148;ENST00000201886;ENST00000424942	T	0.53640	0.61	4.81	4.81	0.61882	.	0.185493	0.48767	D	0.000164	T	0.54415	0.1857	M	0.71036	2.16	0.36969	D	0.893703	P	0.46952	0.887	P	0.45232	0.474	T	0.68891	-0.5289	10	0.72032	D	0.01	.	16.6635	0.85247	0.0:1.0:0.0:0.0	.	110	Q92945	FUBP2_HUMAN	K	110;110;66	ENSP00000381216:R110K	ENSP00000201886:R110K	R	-	2	0	KHSRP	6373368	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.041000	0.76558	2.205000	0.71048	0.655000	0.94253	AGA		0.493	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453305.1			19	96	0	0	0	0	19	96				
MYO9B	4650	broad.mit.edu	37	19	17270248	17270248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:17270248C>T	ENST00000594824.1	+	8	1520	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CTD-3032J10.2_ENST00000597216.1_RNA|MYO9B_ENST00000397274.2_Missense_Mutation_p.T458M|MYO9B_ENST00000595618.1_Missense_Mutation_p.T458M|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	458	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.T458M(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AAAAGAAAAACGGTGACCGTC	0.522																																						uc010eak.2		NA																	2	Substitution - Missense(2)		endometrium(2)	breast(1)	1						c.(1372-1374)ACG>ATG		myosin IXB isoform 1							107.0	104.0	105.0					19																	17270248		1976	4149	6125	SO:0001583	missense	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17270248C>T		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.1373C>T	19.37:g.17270248C>T	ENSP00000471367:p.Thr458Met					MYO9B_uc002nfi.2_Missense_Mutation_p.T458M|MYO9B_uc002nfj.1_Missense_Mutation_p.T458M	p.T458M	NM_004145	NP_004136	Q13459	MYO9B_HUMAN			8	1525	+			458			Myosin head-like.		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37	c.1373C>T		.	.	.	.	.	.	.	.	.	.	C	22.7	4.329555	0.81690	.	.	ENSG00000099331	ENST00000397274	D	0.86627	-2.15	4.13	4.13	0.48395	Myosin head, motor domain (2);	0.000000	0.51477	D	0.000096	D	0.88115	0.6350	N	0.17723	0.515	0.47659	D	0.999485	P;P;D	0.89917	0.948;0.948;1.0	P;P;D	0.81914	0.698;0.698;0.995	D	0.89750	0.3939	10	0.56958	D	0.05	.	15.4019	0.74845	0.0:1.0:0.0:0.0	.	458;458;464	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	M	458	ENSP00000380444:T458M	ENSP00000380444:T458M	T	+	2	0	MYO9B	17131248	1.000000	0.71417	0.968000	0.41197	0.915000	0.54546	7.346000	0.79347	1.864000	0.54056	0.467000	0.42956	ACG		0.522	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			6	13	0	0	0	0	6	13				
ITPKC	80271	broad.mit.edu	37	19	41223543	41223543	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:41223543G>T	ENST00000263370.2	+	1	536	c.503G>T	c.(502-504)gGg>gTg	p.G168V	ADCK4_ENST00000243583.6_5'Flank|ADCK4_ENST00000324464.3_5'Flank|ADCK4_ENST00000450541.1_5'Flank	NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	168					inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACACAGCCAGGGGTTCATGGG	0.607																																						uc002oot.2		NA																	0					0						c.(502-504)GGG>GTG		inositol 1,4,5-trisphosphate 3-kinase C							47.0	53.0	51.0					19																	41223543		2203	4300	6503	SO:0001583	missense	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41223543G>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.503G>T	19.37:g.41223543G>T	ENSP00000263370:p.Gly168Val					ADCK4_uc002ooq.1_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	p.G168V	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		1	536	+			168					Q9UE25|Q9Y475	Missense_Mutation	SNP	ENST00000263370.2	37	c.503G>T	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	5.325	0.245213	0.10077	.	.	ENSG00000086544	ENST00000263370	.	.	.	3.62	-1.51	0.08664	.	0.690450	0.12635	N	0.451775	T	0.22781	0.0550	N	0.24115	0.695	0.09310	N	0.999996	B	0.14438	0.01	B	0.04013	0.001	T	0.17715	-1.0360	9	0.87932	D	0	-0.4093	2.7576	0.05297	0.2997:0.0:0.3548:0.3455	.	168	Q96DU7	IP3KC_HUMAN	V	168	.	ENSP00000263370:G168V	G	+	2	0	ITPKC	45915383	0.000000	0.05858	0.000000	0.03702	0.623000	0.37688	-0.006000	0.12833	-0.261000	0.09405	0.485000	0.47835	GGG		0.607	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194		19	40	1	0	1.16e-05	1.52e-05	19	40				
LMTK3	114783	broad.mit.edu	37	19	49013282	49013282	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:49013282G>A	ENST00000600059.1	-	3	586	c.359C>T	c.(358-360)tCa>tTa	p.S120L	LMTK3_ENST00000270238.3_Missense_Mutation_p.S149L			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	120					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GGCAGTACCTGAGTGTGAAGG	0.622																																						uc002pjk.2		NA																	0				lung(5)|central_nervous_system(1)	6						c.(445-447)TCA>TTA		lemur tyrosine kinase 3							36.0	40.0	38.0					19																	49013282		2110	4220	6330	SO:0001583	missense	114783							g.chr19:49013282G>A	AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.359C>T	19.37:g.49013282G>A	ENSP00000472020:p.Ser120Leu						p.S149L	NM_001080434	NP_001073903				OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)	4	446	-		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)						Q4G0U1	Missense_Mutation	SNP	ENST00000600059.1	37	c.446C>T		.	.	.	.	.	.	.	.	.	.	g	18.92	3.725762	0.69074	.	.	ENSG00000142235	ENST00000270238	T	0.77229	-1.08	4.34	4.34	0.51931	Protein kinase-like domain (1);	0.762571	0.11180	U	0.591045	T	0.66066	0.2752	N	0.14661	0.345	0.42048	D	0.991108	P	0.47409	0.895	B	0.42030	0.373	T	0.66674	-0.5864	10	0.38643	T	0.18	.	15.207	0.73186	0.0:0.0:1.0:0.0	.	120	Q96Q04	LMTK3_HUMAN	L	149	ENSP00000270238:S149L	ENSP00000270238:S149L	S	-	2	0	LMTK3	53705094	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.399000	0.66314	2.355000	0.79922	0.436000	0.28706	TCA		0.622	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000466137.1	NM_052895		10	33	0	0	0	0	10	33				
ZNF432	9668	broad.mit.edu	37	19	52537191	52537191	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:52537191C>A	ENST00000594154.1	-	5	1953	c.1741G>T	c.(1741-1743)Gaa>Taa	p.E581*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.E581*			O94892	ZN432_HUMAN	zinc finger protein 432	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		AGCTCTGTTTCCTTGGCAAAG	0.378																																						uc002pyk.2		NA																	0				breast(2)|pancreas(1)	3						c.(1741-1743)GAA>TAA		zinc finger protein 432							102.0	97.0	99.0					19																	52537191		2203	4300	6503	SO:0001587	stop_gained	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52537191C>A	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1741G>T	19.37:g.52537191C>A	ENSP00000470488:p.Glu581*						p.E581*	NM_014650	NP_055465	O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	2059	-		all_neural(266;0.117)	581			C2H2-type 14.			Nonsense_Mutation	SNP	ENST00000594154.1	37	c.1741G>T	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318783	0.81469	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.96	1.75	0.24633	.	.	.	.	.	.	.	.	.	.	.	0.50313	D	0.99986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.5242	0.04687	0.0:0.3461:0.2632:0.3906	.	.	.	.	X	581	.	ENSP00000221315:E581X	E	-	1	0	ZNF432	57229003	0.000000	0.05858	0.013000	0.15412	0.149000	0.21700	0.008000	0.13197	0.356000	0.24157	0.655000	0.94253	GAA		0.378	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		28	63	1	0	9.39e-14	1.29e-13	28	63				
KIR3DL1	3811	broad.mit.edu	37	19	55281317	55281317	+	Intron	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:55281317C>T	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000402254.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.V5V|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000336077.6_Silent_p.V5V			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CGCTCTTGGTCGTCAGCATGG	0.602											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002qhb.1		NA																	0					0						c.(13-15)GTC>GTT		killer cell immunoglobulin-like receptor, two							114.0	99.0	104.0					19																	55281317		2156	4194	6350	SO:0001627	intron_variant	3802				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	g.chr19:55281317C>T	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45282C>T	19.37:g.55281317C>T			OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1006	KIR2DS4_uc010yfj.1_Intron|KIR2DS4_uc010yfk.1_RNA|KIR2DL3_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron|KIR3DP1_uc010yfi.1_Intron|KIR2DL1_uc010erz.1_Silent_p.V5V	p.V5V	NM_014218	NP_055033	P43626	KI2L1_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	1	53	+			5					O43473|Q14946|Q16541	Silent	SNP	ENST00000538269.1	37	c.15C>T																																																																																					0.602	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		32	37	0	0	0	0	32	37				
PEG3	5178	broad.mit.edu	37	19	57326231	57326231	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57326231C>A	ENST00000326441.9	-	10	3942	c.3579G>T	c.(3577-3579)atG>atT	p.M1193I	PEG3_ENST00000593695.1_Missense_Mutation_p.M1067I|PEG3_ENST00000598410.1_Missense_Mutation_p.M1069I|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M1193I	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1193					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CACACCCCTTCATGGAATACA	0.473																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(3577-3579)ATG>ATT		paternally expressed 3 isoform 1							155.0	149.0	151.0					19																	57326231		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326231C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3579G>T	19.37:g.57326231C>A	ENSP00000326581:p.Met1193Ile					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M1164I|PEG3_uc002qnv.2_Missense_Mutation_p.M1193I|PEG3_uc002qnw.2_Missense_Mutation_p.M1069I|PEG3_uc002qnx.2_Missense_Mutation_p.M1067I|PEG3_uc010etr.2_Missense_Mutation_p.M1193I	p.M1193I	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	3930	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1193					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3579G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578101	0.28180	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02369	4.32;4.32	4.06	-6.63	0.01807	.	3.099820	0.00812	N	0.001513	T	0.01592	0.0051	N	0.08118	0	.	.	.	B;B;B	0.15930	0.0;0.015;0.014	B;B;B	0.10450	0.001;0.005;0.005	T	0.43893	-0.9363	9	0.54805	T	0.06	0.6351	1.6887	0.02847	0.1153:0.25:0.285:0.3498	.	1069;1193;1128	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	I	1193	ENSP00000326581:M1193I;ENSP00000403051:M1193I	ENSP00000326581:M1193I	M	-	3	0	ZIM2	62018043	0.004000	0.15560	0.000000	0.03702	0.992000	0.81027	0.052000	0.14163	-1.508000	0.01800	0.655000	0.94253	ATG		0.473	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			21	93	1	0	1.5e-11	2.05e-11	21	93				
USP29	57663	broad.mit.edu	37	19	57640945	57640945	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:57640945A>C	ENST00000254181.4	+	4	1356	c.902A>C	c.(901-903)cAa>cCa	p.Q301P	USP29_ENST00000598197.1_Missense_Mutation_p.Q301P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	301	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGTTTTACAATCGCTATTT	0.448																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(901-903)CAA>CCA		ubiquitin specific peptidase 29							85.0	82.0	83.0					19																	57640945		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640945A>C		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.902A>C	19.37:g.57640945A>C	ENSP00000254181:p.Gln301Pro						p.Q301P	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1258	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	301						Missense_Mutation	SNP	ENST00000254181.4	37	c.902A>C	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110379	0.37242	.	.	ENSG00000131864	ENST00000254181	D	0.91894	-2.93	2.68	2.68	0.31781	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2, conserved site (1);Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.46442	U	0.000283	D	0.95730	0.8611	M	0.89163	3.01	0.35860	D	0.827391	D	0.89917	1.0	D	0.97110	1.0	D	0.96755	0.9557	10	0.87932	D	0	-11.9485	9.1727	0.37093	1.0:0.0:0.0:0.0	.	301	Q9HBJ7	UBP29_HUMAN	P	301	ENSP00000254181:Q301P	ENSP00000254181:Q301P	Q	+	2	0	USP29	62332757	1.000000	0.71417	0.047000	0.18901	0.373000	0.29922	2.715000	0.47210	1.449000	0.47699	0.477000	0.44152	CAA		0.448	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			7	58	0	0	0	0	7	58				
ZNF530	348327	broad.mit.edu	37	19	58117555	58117555	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58117555G>C	ENST00000332854.6	+	3	882	c.662G>C	c.(661-663)aGa>aCa	p.R221T	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	221					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AAATCTTTTAGAGAGAAATCT	0.438																																						uc002qpk.2		NA																	0					0						c.(661-663)AGA>ACA		zinc finger protein 530							68.0	71.0	70.0					19																	58117555		2203	4300	6503	SO:0001583	missense	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58117555G>C	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.662G>C	19.37:g.58117555G>C	ENSP00000332861:p.Arg221Thr					ZNF547_uc002qpm.3_Intron|ZNF530_uc002qpl.2_RNA	p.R221T	NM_020880	NP_065931	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	882	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	221					O43340|Q9P220	Missense_Mutation	SNP	ENST00000332854.6	37	c.662G>C	CCDS12955.1	.	.	.	.	.	.	.	.	.	.	G	1.766	-0.485630	0.04352	.	.	ENSG00000183647	ENST00000332854	T	0.14391	2.51	1.83	1.83	0.25207	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	L	0.28649	0.875	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.37150	-0.9718	9	0.15499	T	0.54	.	8.6847	0.34229	0.0:0.0:1.0:0.0	.	221	Q6P9A1	ZN530_HUMAN	T	221	ENSP00000332861:R221T	ENSP00000332861:R221T	R	+	2	0	ZNF530	62809367	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.477000	0.22196	0.974000	0.38366	0.609000	0.83330	AGA		0.438	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	NM_020880		3	69	0	0	0	0	3	69				
ZSCAN1	284312	broad.mit.edu	37	19	58565265	58565265	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr19:58565265G>A	ENST00000282326.1	+	6	1320	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	358					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGGGCCCCCGGGAGTCCGTC	0.662																																						uc002qrc.1		NA																	0				ovary(2)	2						c.(1072-1074)CGG>CAG		zinc finger and SCAN domain containing 1							31.0	33.0	32.0					19																	58565265		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565265G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.1073G>A	19.37:g.58565265G>A	ENSP00000282326:p.Arg358Gln						p.R358Q	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1320	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	358					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.1073G>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	8.644	0.896689	0.17686	.	.	ENSG00000152467	ENST00000282326	T	0.04603	3.59	1.14	0.0667	0.14362	.	.	.	.	.	T	0.02380	0.0073	N	0.08118	0	0.18873	N	0.999984	B	0.25235	0.121	B	0.15052	0.012	T	0.44574	-0.9319	9	0.46703	T	0.11	.	5.353	0.16045	0.2167:0.0:0.7833:0.0	.	358	Q8NBB4	ZSCA1_HUMAN	Q	358	ENSP00000282326:R358Q	ENSP00000282326:R358Q	R	+	2	0	ZSCAN1	63257077	0.000000	0.05858	0.001000	0.08648	0.024000	0.10985	-0.731000	0.04909	0.059000	0.16252	-0.339000	0.08088	CGG		0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		10	37	0	0	0	0	10	37				
SLC8A1	6546	broad.mit.edu	37	2	40366549	40366549	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:40366549G>C	ENST00000403092.1	-	10	2570	c.2537C>G	c.(2536-2538)tCa>tGa	p.S846*	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Nonsense_Mutation_p.S838*|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000405269.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000402441.1_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000542024.1_Nonsense_Mutation_p.S810*|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000405901.3_Nonsense_Mutation_p.S841*|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000406785.2_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000332839.4_Nonsense_Mutation_p.S846*|SLC8A1_ENST00000406391.2_Nonsense_Mutation_p.S810*|SLC8A1_ENST00000542756.1_Nonsense_Mutation_p.S841*|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	846					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCTGGCACTGATGTTCCAAG	0.453																																						uc002rrx.2		NA																	0				ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2536-2538)TCA>TGA		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						59.0	52.0	54.0					2																	40366549		2203	4300	6503	SO:0001587	stop_gained	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366549G>C		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2537C>G	2.37:g.40366549G>C	ENSP00000384763:p.Ser846*					uc002rrw.2_Intron|SLC8A1_uc002rry.2_Nonsense_Mutation_p.S841*|SLC8A1_uc002rrz.2_Nonsense_Mutation_p.S833*|SLC8A1_uc002rsa.2_Nonsense_Mutation_p.S810*|SLC8A1_uc002rsd.3_Nonsense_Mutation_p.S810*	p.S846*	NM_021097	NP_066920	P32418	NAC1_HUMAN			9	2561	-			846			Extracellular (Potential).|Alpha-2.		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Nonsense_Mutation	SNP	ENST00000403092.1	37	c.2537C>G	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	39	7.416037	0.98269	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9345	0.79691	0.0:0.0:1.0:0.0	.	.	.	.	X	810;846;841;846;841;810;810;846;838;833;810;810	.	ENSP00000332931:S846X	S	-	2	0	SLC8A1	40220053	1.000000	0.71417	0.998000	0.56505	0.673000	0.39480	9.731000	0.98807	2.333000	0.79357	0.563000	0.77884	TCA		0.453	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		10	20	0	0	0	0	10	20				
INPP4A	3631	broad.mit.edu	37	2	99154409	99154409	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:99154409C>T	ENST00000523221.1	+	6	551	c.551C>T	c.(550-552)aCc>aTc	p.T184I	INPP4A_ENST00000409851.3_Missense_Mutation_p.T184I|INPP4A_ENST00000409540.3_Missense_Mutation_p.T184I|INPP4A_ENST00000074304.5_Missense_Mutation_p.T184I|INPP4A_ENST00000409016.4_Missense_Mutation_p.T184I|INPP4A_ENST00000545415.1_Missense_Mutation_p.T184I|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	184					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCCCCTGTGACCCGGTCTGTG	0.522																																						uc002syy.2		NA																	0				kidney(1)	1						c.(550-552)ACC>ATC		inositol polyphosphate-4-phosphatase, type 1							68.0	76.0	73.0					2																	99154409		2006	4182	6188	SO:0001583	missense	3631				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr2:99154409C>T	U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.551C>T	2.37:g.99154409C>T	ENSP00000427722:p.Thr184Ile					INPP4A_uc010yvj.1_Missense_Mutation_p.T184I|INPP4A_uc010yvk.1_Missense_Mutation_p.T184I|INPP4A_uc002syx.2_Missense_Mutation_p.T184I|INPP4A_uc010fik.2_Intron	p.T184I	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN			8	944	+			184					O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	c.551C>T	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	C	10.66	1.411304	0.25465	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76;1.76	5.59	4.71	0.59529	.	0.273784	0.40728	N	0.001037	T	0.13243	0.0321	N	0.04090	-0.28	0.44388	D	0.997293	B;B;B;B	0.27140	0.05;0.169;0.169;0.169	B;B;B;B	0.21151	0.022;0.03;0.033;0.033	T	0.07102	-1.0790	10	0.32370	T	0.25	-25.0474	15.5476	0.76118	0.0:0.8616:0.1384:0.0	.	184;184;184;184	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	I	184	ENSP00000386704:T184I;ENSP00000386777:T184I;ENSP00000074304:T184I;ENSP00000442149:T184I;ENSP00000387294:T184I;ENSP00000427722:T184I	ENSP00000074304:T184I	T	+	2	0	INPP4A	98520841	1.000000	0.71417	0.998000	0.56505	0.585000	0.36419	4.594000	0.61041	1.324000	0.45282	0.655000	0.94253	ACC		0.522	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1	NM_001566		5	16	0	0	0	0	5	16				
ACVR2A	92	broad.mit.edu	37	2	148653878	148653878	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:148653878C>G	ENST00000241416.7	+	2	700	c.64C>G	c.(64-66)Ctt>Gtt	p.L22V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.L22V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	22					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		AGGTGCTATACTTGGTAGATC	0.328																																						uc002twg.2		NA																	0				stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1)	13						c.(64-66)CTT>GTT		activin A receptor, type IIA precursor							85.0	89.0	88.0					2																	148653878		2203	4300	6503	SO:0001583	missense	92				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	g.chr2:148653878C>G		CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.64C>G	2.37:g.148653878C>G	ENSP00000241416:p.Leu22Val					ACVR2A_uc010zbn.1_Intron|ACVR2A_uc002twh.2_Missense_Mutation_p.L22V	p.L22V	NM_001616	NP_001607	P27037	AVR2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0969)	3	333	+			22			Extracellular (Potential).		B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Missense_Mutation	SNP	ENST00000241416.7	37	c.64C>G	CCDS33301.1	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067122	0.36470	.	.	ENSG00000121989	ENST00000241416;ENST00000404590	D;D	0.83673	-1.75;-1.75	5.17	5.17	0.71159	.	0.068068	0.64402	D	0.000018	T	0.78149	0.4238	L	0.43152	1.355	0.80722	D	1	B	0.16396	0.017	B	0.13407	0.009	T	0.72557	-0.4257	10	0.17369	T	0.5	.	18.6722	0.91516	0.0:1.0:0.0:0.0	.	22	P27037	AVR2A_HUMAN	V	22	ENSP00000241416:L22V;ENSP00000384338:L22V	ENSP00000241416:L22V	L	+	1	0	ACVR2A	148370348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.952000	0.56691	2.398000	0.81561	0.655000	0.94253	CTT		0.328	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319051.1	NM_001616		7	49	0	0	0	0	7	49				
BAZ2B	29994	broad.mit.edu	37	2	160243034	160243034	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:160243034G>A	ENST00000392783.2	-	22	3796	c.3301C>T	c.(3301-3303)Cga>Tga	p.R1101*	BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.R1067*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.R1001*|AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.R1065*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1101	DDT. {ECO:0000255|PROSITE- ProRule:PRU00063}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCAAAGTTTCGTAAGAACTGC	0.413																																						uc002uao.2		NA																	0				ovary(3)|skin(1)	4						c.(3301-3303)CGA>TGA		bromodomain adjacent to zinc finger domain, 2B							91.0	82.0	85.0					2																	160243034		1858	4123	5981	SO:0001587	stop_gained	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160243034G>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3301C>T	2.37:g.160243034G>A	ENSP00000376534:p.Arg1101*					BAZ2B_uc002uap.2_Nonsense_Mutation_p.R1065*	p.R1101*	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			22	3653	-			1101			DDT.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Nonsense_Mutation	SNP	ENST00000392783.2	37	c.3301C>T	CCDS2209.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.4|26.4	4.738088|4.738088	0.89573|0.89573	.|.	.|.	ENSG00000123636|ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439|ENST00000294905	.|.	.|.	.|.	6.08|6.08	3.23|3.23	0.37069|0.37069	.|.	0.000000|.	0.31461|.	U|.	0.007616|.	.|T	.|0.53061	.|0.1773	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60100	.|-0.7329	.|3	0.06365|.	T|.	0.9|.	-4.2703|-4.2703	10.3628|10.3628	0.44006|0.44006	0.0628:0.0:0.6956:0.2415|0.0628:0.0:0.6956:0.2415	.|.	.|.	.|.	.|.	X|M	1065;1101;1067;1001|161	.|.	ENSP00000339670:R1001X|.	R|T	-|-	1|2	2|0	BAZ2B|BAZ2B	159951280|159951280	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.691000|5.691000	0.68249|0.68249	0.402000|0.402000	0.25451|0.25451	0.591000|0.591000	0.81541|0.81541	CGA|ACG		0.413	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			13	45	0	0	0	0	13	45				
PCED1A	64773	broad.mit.edu	37	20	2819570	2819570	+	Silent	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:2819570A>C	ENST00000360652.2	-	4	865	c.363T>G	c.(361-363)ctT>ctG	p.L121L	PCED1A_ENST00000356872.3_Silent_p.L70L|VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	121																	GAACATCCTCAAGGTACTCGG	0.577																																						uc002wgz.1		NA																	0				ovary(2)	2						c.(361-363)CTT>CTG		hypothetical protein LOC64773							98.0	94.0	95.0					20																	2819570		2203	4300	6503	SO:0001819	synonymous_variant	64773						hydrolase activity|protein binding	g.chr20:2819570A>C	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.363T>G	20.37:g.2819570A>C						FAM113A_uc002whb.1_Intron|FAM113A_uc002wha.1_5'UTR|FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Silent_p.L70L|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank	p.L121L	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN			4	860	-			121					Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Silent	SNP	ENST00000360652.2	37	c.363T>G	CCDS13035.1																																																																																				0.577	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		5	94	0	0	0	0	5	94				
CRLS1	54675	broad.mit.edu	37	20	5990553	5990553	+	Missense_Mutation	SNP	G	G	C	rs59962100		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:5990553G>C	ENST00000378863.4	+	2	596	c.439G>C	c.(439-441)Gat>Cat	p.D147H	CRLS1_ENST00000378868.4_Missense_Mutation_p.D48H|CRLS1_ENST00000452938.1_Missense_Mutation_p.D147H	NM_019095.4	NP_061968.1	Q9UJA2	CRLS1_HUMAN	cardiolipin synthase 1	147					cardiolipin biosynthetic process (GO:0032049)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			lung(3)|ovary(1)	4						TGGACTAACAGATTTGGTAAG	0.413																																						uc002wmn.3		NA																	0					0						c.(439-441)GAT>CAT		cardiolipin synthase 1 isoform 1							91.0	87.0	88.0					20																	5990553		2203	4300	6503	SO:0001583	missense	54675				phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups	g.chr20:5990553G>C	AF241784	CCDS13096.1, CCDS46578.1	20p13-p12.3	2006-04-04	2006-04-04	2006-04-04	ENSG00000088766	ENSG00000088766			16148	protein-coding gene	gene with protein product	"""GCD10 homolog (S. cerevisiae)"""	608188	"""chromosome 20 open reading frame 155"""	C20orf155		16547353	Standard	NM_019095		Approved	dJ967N21.6, CLS1, GCD10	uc002wmn.4	Q9UJA2	OTTHUMG00000031823	ENST00000378863.4:c.439G>C	20.37:g.5990553G>C	ENSP00000368140:p.Asp147His					CRLS1_uc010gbq.2_RNA|CRLS1_uc010gbr.2_Missense_Mutation_p.D48H|CRLS1_uc010gbs.1_Missense_Mutation_p.D36H	p.D147H	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN			2	593	+			147			Helical; (Potential).		D3DW09|E9PAT4|Q27RP0|Q69YQ5	Missense_Mutation	SNP	ENST00000378863.4	37	c.439G>C	CCDS13096.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.654165	0.88056	.	.	ENSG00000088766	ENST00000378863;ENST00000452938;ENST00000378868	T;T;T	0.78364	-1.17;-1.17;-1.17	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	D	0.93959	0.8066	H	0.99487	4.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96285	0.9209	10	0.87932	D	0	-4.3423	18.6466	0.91413	0.0:0.0:1.0:0.0	.	147;48;147	Q6NTG3;Q9UJA2-2;Q9UJA2	.;.;CRLS1_HUMAN	H	147;147;48	ENSP00000368140:D147H;ENSP00000416770:D147H;ENSP00000368145:D48H	ENSP00000368140:D147H	D	+	1	0	CRLS1	5938553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.715000	0.91416	2.744000	0.94065	0.655000	0.94253	GAT		0.413	CRLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077902.2	NM_019095		5	51	0	0	0	0	5	51				
DNTTIP1	116092	broad.mit.edu	37	20	44422617	44422617	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:44422617C>T	ENST00000372622.3	+	3	302	c.234C>T	c.(232-234)atC>atT	p.I78I	WFDC3_ENST00000481847.1_5'Flank|WFDC3_ENST00000243938.4_5'Flank	NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	78						nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AGCCCAGCATCAACGAGGAGA	0.522																																						uc002xpk.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(232-234)ATC>ATT		terminal deoxynucleotidyltransferase interacting							117.0	94.0	102.0					20																	44422617		2203	4300	6503	SO:0001819	synonymous_variant	116092					nucleus		g.chr20:44422617C>T	AB035676	CCDS13369.1	20q13.12	2003-09-10	2003-09-10	2003-09-12	ENSG00000101457	ENSG00000101457			16160	protein-coding gene	gene with protein product	"""novel protein similar to synaptotagmin 1 (SYT1, P65) (isoform 1)"", ""TdT binding protein"""	611388	"""chromosome 20 open reading frame 167"""	C20orf167		11473582	Standard	NM_052951		Approved	dJ447F3.4, Tdif1	uc002xpk.3	Q9H147	OTTHUMG00000032610	ENST00000372622.3:c.234C>T	20.37:g.44422617C>T						WFDC3_uc002xpf.1_5'Flank|WFDC3_uc002xpj.1_5'Flank|WFDC3_uc002xph.1_5'Flank|WFDC3_uc010ghh.1_5'Flank	p.I78I	NM_052951	NP_443183	Q9H147	TDIF1_HUMAN			3	302	+		Myeloproliferative disorder(115;0.0122)	78					B2RA18|Q96DE3|Q9BQP2|Q9H148	Silent	SNP	ENST00000372622.3	37	c.234C>T	CCDS13369.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.64|10.64	1.407053|1.407053	0.25378|0.25378	.|.	.|.	ENSG00000101457|ENSG00000101457	ENST00000456939|ENST00000435014	.|.	.|.	.|.	5.94|5.94	4.97|4.97	0.65823|0.65823	.|.	.|.	.|.	.|.	.|.	.|T	.|0.59059	.|0.2166	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.55062	.|-0.8199	.|4	.|.	.|.	.|.	-18.5648|-18.5648	8.8591|8.8591	0.35247|0.35247	0.1498:0.7752:0.0:0.0751|0.1498:0.7752:0.0:0.0751	.|.	.|.	.|.	.|.	X|L	62|5	.|.	.|.	Q|S	+|+	1|2	0|0	DNTTIP1|DNTTIP1	43856024|43856024	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.848000|1.848000	0.39309|0.39309	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	CAA|TCA		0.522	DNTTIP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079502.1	NM_052951		19	65	0	0	0	0	19	65				
NFATC2	4773	broad.mit.edu	37	20	50007976	50007976	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:50007976A>G	ENST00000396009.3	-	10	2954	c.2735T>C	c.(2734-2736)aTc>aCc	p.I912T	NFATC2_ENST00000610033.1_3'UTR|NFATC2_ENST00000414705.1_3'UTR|NFATC2_ENST00000609943.1_Missense_Mutation_p.I892T|NFATC2_ENST00000371564.3_3'UTR|NFATC2_ENST00000609507.1_3'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	912					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CTCCTTCCTGATAATTTCATT	0.483																																						uc002xwd.2		NA																	0				ovary(2)	2						c.(2734-2736)ATC>ACC		nuclear factor of activated T-cells,							96.0	101.0	99.0					20																	50007976		2203	4300	6503	SO:0001583	missense	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50007976A>G	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.2735T>C	20.37:g.50007976A>G	ENSP00000379330:p.Ile912Thr					NFATC2_uc002xwc.2_3'UTR|NFATC2_uc010zyv.1_3'UTR|NFATC2_uc010zyw.1_Missense_Mutation_p.I693T|NFATC2_uc010zyx.1_3'UTR|NFATC2_uc010zyy.1_3'UTR|NFATC2_uc010zyz.1_Missense_Mutation_p.I693T|NFATC2_uc002xwe.2_Missense_Mutation_p.I892T	p.I912T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			10	2955	-	Hepatocellular(150;0.248)		912			Nuclear export signal.		B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Missense_Mutation	SNP	ENST00000396009.3	37	c.2735T>C	CCDS13437.1	.	.	.	.	.	.	.	.	.	.	A	16.22	3.061496	0.55432	.	.	ENSG00000101096	ENST00000396009	T	0.20463	2.07	5.61	5.61	0.85477	.	0.321368	0.29579	N	0.011755	T	0.41650	0.1168	L	0.50333	1.59	0.80722	D	1	D;B	0.57899	0.981;0.047	D;B	0.69824	0.966;0.022	T	0.24119	-1.0169	10	0.87932	D	0	-8.8753	15.8135	0.78581	1.0:0.0:0.0:0.0	.	892;912	B5B2P2;Q13469	.;NFAC2_HUMAN	T	912	ENSP00000379330:I912T	ENSP00000379330:I912T	I	-	2	0	NFATC2	49441383	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.774000	0.75012	2.118000	0.64928	0.533000	0.62120	ATC		0.483	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		25	63	0	0	0	0	25	63				
SRMS	6725	broad.mit.edu	37	20	62178520	62178520	+	Silent	SNP	G	G	A	rs531420290		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr20:62178520G>A	ENST00000217188.1	-	1	337	c.297C>T	c.(295-297)gcC>gcT	p.A99A		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	99	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCACGAGCCCGGCGCTGGGCT	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14785	0.0		0.0	False		,,,				2504	0.0					uc002yfi.1		NA																	0				stomach(1)|lung(1)	2						c.(295-297)GCC>GCT		src-related kinase lacking C-terminal regulatory							69.0	75.0	73.0					20																	62178520		2200	4300	6500	SO:0001819	synonymous_variant	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62178520G>A		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.297C>T	20.37:g.62178520G>A							p.A99A	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		1	338	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		99			SH3.			Silent	SNP	ENST00000217188.1	37	c.297C>T	CCDS13525.1																																																																																				0.697	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		25	48	0	0	0	0	25	48				
GRIK1	2897	broad.mit.edu	37	21	31311810	31311810	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:31311810G>A	ENST00000399907.1	-	1	420	c.9C>T	c.(7-9)caC>caT	p.H3H	GRIK1_ENST00000389125.3_Silent_p.H3H|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Silent_p.H3H|GRIK1_ENST00000389124.2_Silent_p.H3H|GRIK1_ENST00000309434.7_Silent_p.H3H|GRIK1_ENST00000399914.1_Silent_p.H3H|GRIK1_ENST00000535441.1_Silent_p.H3H|GRIK1_ENST00000399909.1_Silent_p.H3H|GRIK1_ENST00000327783.4_Silent_p.H3H	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	3					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	GGAGTGTGCCGTGCTCCATCT	0.622																																						uc002yno.1		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(7-9)CAC>CAT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						96.0	75.0	82.0					21																	31311810		2203	4300	6503	SO:0001819	synonymous_variant	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31311810G>A		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.9C>T	21.37:g.31311810G>A						GRIK1_uc002ynn.2_Silent_p.H3H|GRIK1_uc011acs.1_Silent_p.H3H|GRIK1_uc011act.1_Silent_p.H3H|GRIK1_uc010glq.1_Silent_p.H3H|GRIK1_uc002ynr.2_Silent_p.H3H	p.H3H	NM_000830	NP_000821	P39086	GRIK1_HUMAN			1	473	-			3					Q13001|Q86SU9	Silent	SNP	ENST00000399907.1	37	c.9C>T	CCDS42913.1																																																																																				0.622	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			4	10	0	0	0	0	4	10				
COL6A1	1291	broad.mit.edu	37	21	47404294	47404294	+	Silent	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr21:47404294C>G	ENST00000361866.3	+	3	453	c.339C>G	c.(337-339)ctC>ctG	p.L113L		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	113	N-terminal globular domain.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		GCGACGCACTCAAAAGCAGCG	0.632																																						uc002zhu.1		NA																	0				ovary(1)	1						c.(337-339)CTC>CTG		collagen, type VI, alpha 1 precursor	Palifermin(DB00039)						81.0	57.0	65.0					21																	47404294		2203	4297	6500	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47404294C>G	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.339C>G	21.37:g.47404294C>G							p.L113L	NM_001848	NP_001839	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	3	441	+	all_hematologic(128;0.24)		113			VWFA 1.|N-terminal globular domain.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.339C>G	CCDS13727.1																																																																																				0.632	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		7	20	0	0	0	0	7	20				
MED15	51586	broad.mit.edu	37	22	20940876	20940876	+	Missense_Mutation	SNP	C	C	T	rs371860906	byFrequency	TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:20940876C>T	ENST00000263205.7	+	18	2321	c.2252C>T	c.(2251-2253)tCg>tTg	p.S751L	MED15_ENST00000541476.1_Missense_Mutation_p.S685L|MED15_ENST00000425759.2_Missense_Mutation_p.S600L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S711L|MED15_ENST00000406969.1_Missense_Mutation_p.S685L|MED15_ENST00000382974.2_Missense_Mutation_p.S640L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	751					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			TTCCTCCAGTCGGTGCACCGC	0.677													C|||	2	0.000399361	0.0	0.0	5008	,	,		15885	0.0		0.0	False		,,,				2504	0.002					uc002zsp.2		NA																	0				skin(1)	1						c.(2251-2253)TCG>TTG		mediator complex subunit 15 isoform a							59.0	53.0	55.0					22																	20940876		2203	4298	6501	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20940876C>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2252C>T	22.37:g.20940876C>T	ENSP00000263205:p.Ser751Leu					MED15_uc002zsq.2_Missense_Mutation_p.S711L|MED15_uc010gso.2_Missense_Mutation_p.S694L|MED15_uc002zsr.2_Missense_Mutation_p.S685L|MED15_uc011ahs.1_Missense_Mutation_p.S685L|MED15_uc002zss.2_Missense_Mutation_p.S630L|MED15_uc011ahu.1_Missense_Mutation_p.S461L|MED15_uc002zst.2_Missense_Mutation_p.S367L|MED15_uc002zsu.2_Missense_Mutation_p.S356L	p.S751L	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		18	2332	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	751					D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.2252C>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045030	0.55110	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.67	5.67	0.87782	Mediator complex, subunit Med15, metazoa (1);	0.136787	0.49916	D	0.000131	T	0.63283	0.2498	L	0.39245	1.2	0.80722	D	1	D;D;D;D;D;D	0.63046	0.985;0.992;0.962;0.991;0.991;0.992	P;P;B;P;P;P	0.55965	0.507;0.788;0.231;0.682;0.682;0.788	T	0.64803	-0.6321	9	0.62326	D	0.03	.	15.2608	0.73621	0.0:1.0:0.0:0.0	.	681;730;367;685;711;751	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	L	600;711;751;685;640;685;681	.	ENSP00000263205:S751L	S	+	2	0	MED15	19270876	0.997000	0.39634	0.981000	0.43875	0.131000	0.20780	3.641000	0.54360	2.686000	0.91538	0.561000	0.74099	TCG		0.677	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		27	65	0	0	0	0	27	65				
CRYBB3	1417	broad.mit.edu	37	22	25601219	25601219	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:25601219G>A	ENST00000215855.2	+	5	440	c.360G>A	c.(358-360)gaG>gaA	p.E120E	CRYBB3_ENST00000404334.1_Intron	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	120	Beta/gamma crystallin 'Greek key' 3. {ECO:0000255|PROSITE-ProRule:PRU00028}.				visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(2)|lung(2)|prostate(1)	5						ATCTGTTTGAGAACCCAGCTT	0.567																																						uc003abo.1		NA																	0					0						c.(358-360)GAG>GAA		crystallin, beta B3							107.0	85.0	93.0					22																	25601219		2203	4300	6503	SO:0001819	synonymous_variant	1417				visual perception		protein binding|structural constituent of eye lens	g.chr22:25601219G>A		CCDS13830.1	22q11.23	2008-06-10			ENSG00000100053	ENSG00000100053			2400	protein-coding gene	gene with protein product		123630		CRYB3		8999933	Standard	NM_004076		Approved		uc003abo.2	P26998	OTTHUMG00000150869	ENST00000215855.2:c.360G>A	22.37:g.25601219G>A							p.E120E	NM_004076	NP_004067	P26998	CRBB3_HUMAN			5	432	+			120			Beta/gamma crystallin 'Greek key' 3.		Q3B7S9|Q3T1B7|Q6ISK6|Q92965|Q9UH09	Silent	SNP	ENST00000215855.2	37	c.360G>A	CCDS13830.1																																																																																				0.567	CRYBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320352.1	NM_004076		14	49	0	0	0	0	14	49				
PLA2G6	8398	broad.mit.edu	37	22	38508233	38508233	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:38508233C>T	ENST00000332509.3	-	17	2539	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K	BAIAP2L2_ENST00000332536.5_5'Flank|PLA2G6_ENST00000402064.1_Missense_Mutation_p.E732K|BAIAP2L2_ENST00000381669.3_5'Flank|PLA2G6_ENST00000335539.3_Missense_Mutation_p.E732K	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	786					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	ATGTAGACCTCGGTCTCCCAG	0.622																																						uc003auy.1		NA																	0				ovary(1)	1						c.(2356-2358)GAG>AAG		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						63.0	49.0	54.0					22																	38508233		2202	4298	6500	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38508233C>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.2356G>A	22.37:g.38508233C>T	ENSP00000333142:p.Glu786Lys					PLA2G6_uc003auz.1_Missense_Mutation_p.E732K|PLA2G6_uc003ava.1_Missense_Mutation_p.E786K|PLA2G6_uc003avb.2_Missense_Mutation_p.E732K|BAIAP2L2_uc003auw.2_5'Flank|PLA2G6_uc003aux.1_3'UTR	p.E786K	NM_003560	NP_003551	O60733	PA2G6_HUMAN			17	2492	-	Melanoma(58;0.045)		786					A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.2356G>A	CCDS13967.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.903841	0.33628	.	.	ENSG00000184381	ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064	T;T;T	0.77750	-1.12;-1.12;-1.12	4.7	3.6	0.41247	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.054132	0.85682	D	0.000000	T	0.47414	0.1444	N	0.04018	-0.295	0.80722	D	1	P;B	0.42757	0.789;0.059	B;B	0.34418	0.182;0.02	T	0.61083	-0.7134	10	0.02654	T	1	-25.9901	12.0297	0.53392	0.0:0.5948:0.4052:0.0	.	732;786	O60733-2;O60733	.;PA2G6_HUMAN	K	786;647;732;732	ENSP00000333142:E786K;ENSP00000335149:E732K;ENSP00000386100:E732K	ENSP00000333142:E786K	E	-	1	0	PLA2G6	36838179	1.000000	0.71417	0.999000	0.59377	0.841000	0.47740	6.073000	0.71245	2.137000	0.66172	0.313000	0.20887	GAG		0.622	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426		4	14	0	0	0	0	4	14				
PLXNB2	23654	broad.mit.edu	37	22	50716549	50716549	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:50716549G>A	ENST00000449103.1	-	31	5024	c.4884C>T	c.(4882-4884)gtC>gtT	p.V1628V	PLXNB2_ENST00000359337.4_Silent_p.V1628V			O15031	PLXB2_HUMAN	plexin B2	1628					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCCCACCTTGACTGAGAGCA	0.687																																						uc003bkv.3		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(4882-4884)GTC>GTT		plexin B2 precursor							28.0	30.0	29.0					22																	50716549		2113	4227	6340	SO:0001819	synonymous_variant	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50716549G>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4884C>T	22.37:g.50716549G>A						PLXNB2_uc003bkt.1_Silent_p.V420V|PLXNB2_uc003bku.1_Silent_p.V613V	p.V1628V	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	31	4990	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1628			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	ENST00000449103.1	37	c.4884C>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	G	1.494	-0.553822	0.03996	.	.	ENSG00000196576	ENST00000399991;ENST00000399964	.	.	.	4.7	0.677	0.17964	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.7901	0.40699	0.0913:0.3959:0.5128:0.0	.	.	.	.	X	100;259	.	ENSP00000382845:Q259X	Q	-	1	0	PLXNB2	49058676	1.000000	0.71417	0.993000	0.49108	0.041000	0.13682	0.989000	0.29629	0.476000	0.27440	-0.291000	0.09656	CAA		0.687	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	25	0	0	0	0	7	25				
CPT1B	1375	broad.mit.edu	37	22	51010715	51010715	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr22:51010715G>C	ENST00000360719.2	-	12	1512	c.1375C>G	c.(1375-1377)Ctc>Gtc	p.L459V	CPT1B_ENST00000440709.1_Missense_Mutation_p.L378V|CPT1B_ENST00000457250.1_Missense_Mutation_p.L425V|CPT1B_ENST00000395650.2_Missense_Mutation_p.L459V|CPT1B_ENST00000405237.3_Missense_Mutation_p.L459V|CPT1B_ENST00000312108.7_Missense_Mutation_p.L459V|CPT1B_ENST00000434492.2_Missense_Mutation_p.L256V|CHKB-CPT1B_ENST00000453634.1_3'UTR	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	459					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		AAGGAAATGAGAGTGAAGGAT	0.512																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	uc003bmk.3		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1375-1377)CTC>GTC		carnitine palmitoyltransferase 1B isoform a							74.0	67.0	69.0					22																	51010715		2203	4300	6503	SO:0001583	missense	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51010715G>C	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1375C>G	22.37:g.51010715G>C	ENSP00000353945:p.Leu459Val					CPT1B_uc003bml.2_Missense_Mutation_p.L459V|CPT1B_uc003bmm.2_Missense_Mutation_p.L459V|CPT1B_uc003bmo.2_Missense_Mutation_p.L459V|CPT1B_uc011asa.1_Missense_Mutation_p.L425V|CPT1B_uc003bmn.2_Missense_Mutation_p.L459V|CPT1B_uc011asb.1_Missense_Mutation_p.L378V|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.L256V|uc003bmr.1_RNA	p.L459V	NM_001145137	NP_001138609	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1537	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	459			Cytoplasmic (Potential).		B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Missense_Mutation	SNP	ENST00000360719.2	37	c.1375C>G	CCDS14098.1	.	.	.	.	.	.	.	.	.	.	G	4.258	0.046901	0.08243	.	.	ENSG00000205560	ENST00000405237;ENST00000312108;ENST00000360719;ENST00000457250;ENST00000440709;ENST00000434492;ENST00000395650	D;D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	5.51	2.3	0.28687	.	0.139097	0.47455	N	0.000226	D	0.86814	0.6023	L	0.55213	1.73	0.30560	N	0.764615	B;B;B;B	0.12630	0.006;0.004;0.002;0.005	B;B;B;B	0.27170	0.017;0.077;0.011;0.026	T	0.77062	-0.2727	10	0.33141	T	0.24	-21.9522	2.0347	0.03537	0.158:0.1694:0.4974:0.1752	.	378;425;256;459	E9PCP2;B7Z4U4;A2RRE8;Q92523	.;.;.;CPT1B_HUMAN	V	459;459;459;425;378;256;459	ENSP00000385486:L459V;ENSP00000312189:L459V;ENSP00000353945:L459V;ENSP00000409342:L425V;ENSP00000414713:L378V;ENSP00000410966:L256V;ENSP00000379011:L459V	ENSP00000312189:L459V	L	-	1	0	CPT1B	49357581	0.030000	0.19436	0.008000	0.14137	0.259000	0.26198	0.336000	0.19823	0.691000	0.31592	0.561000	0.74099	CTC		0.512	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		8	39	0	0	0	0	8	39				
FYCO1	79443	broad.mit.edu	37	3	46008282	46008282	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:46008282G>A	ENST00000296137.2	-	8	2749	c.2544C>T	c.(2542-2544)tgC>tgT	p.C848C	FYCO1_ENST00000535325.1_Silent_p.C848C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	848					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CACGCTCCGAGCATTGCAGCA	0.627																																						uc003cpb.3		NA																	0				central_nervous_system(1)	1						c.(2542-2544)TGC>TGT		FYVE and coiled-coil domain containing 1							51.0	49.0	49.0					3																	46008282		2203	4300	6503	SO:0001819	synonymous_variant	79443				transport	integral to membrane	metal ion binding|protein binding	g.chr3:46008282G>A	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2544C>T	3.37:g.46008282G>A						FYCO1_uc011bal.1_Silent_p.C848C	p.C848C	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)	8	2750	-			848			Potential.		B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Silent	SNP	ENST00000296137.2	37	c.2544C>T	CCDS2734.1																																																																																				0.627	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257320.2	NM_024513		11	24	0	0	0	0	11	24				
CELSR3	1951	broad.mit.edu	37	3	48697921	48697921	+	Missense_Mutation	SNP	C	C	T	rs199769009		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:48697921C>T	ENST00000164024.4	-	1	2427	c.2147G>A	c.(2146-2148)cGt>cAt	p.R716H	CELSR3_ENST00000544264.1_Missense_Mutation_p.R716H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	716	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACAGACTCACGGTCCAGGGG	0.557													C|||	1	0.000199681	0.0	0.0	5008	,	,		22247	0.0		0.001	False		,,,				2504	0.0					uc003cul.2		NA																	0				ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11						c.(2146-2148)CGT>CAT		cadherin EGF LAG seven-pass G-type receptor 3							64.0	61.0	62.0					3																	48697921		2203	4300	6503	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48697921C>T	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2147G>A	3.37:g.48697921C>T	ENSP00000164024:p.Arg716His					CELSR3_uc003cuf.1_Missense_Mutation_p.R786H	p.R716H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	1	2428	-			716			Extracellular (Potential).|Cadherin 4.		O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.2147G>A	CCDS2775.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.95	3.732307	0.69189	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.01705	4.68;4.68	5.95	5.07	0.68467	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.11110	0.0271	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.927	T	0.00899	-1.1522	9	0.59425	D	0.04	.	16.6036	0.84822	0.1313:0.8687:0.0:0.0	.	716;786	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	H	716	ENSP00000164024:R716H;ENSP00000445694:R716H	ENSP00000164024:R716H	R	-	2	0	CELSR3	48672925	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.088000	0.71371	1.502000	0.48669	0.655000	0.94253	CGT		0.557	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		12	26	0	0	0	0	12	26				
OR5H6	79295	broad.mit.edu	37	3	97983471	97983471	+	Missense_Mutation	SNP	G	G	C	rs372250333|rs386663735		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:97983471G>C	ENST00000383696.2	+	1	384	c.343G>C	c.(343-345)Gta>Cta	p.V115L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGAATGCATGGTACAATTTTT	0.388																																						uc003dsi.1		NA																	0				skin(2)|large_intestine(1)	3						c.(343-345)GTA>CTA		olfactory receptor, family 5, subfamily H,							111.0	101.0	104.0					3																	97983471		2203	4300	6503	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983471G>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.343G>C	3.37:g.97983471G>C	ENSP00000373196:p.Val115Leu						p.V115L	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			1	343	+			115			Extracellular (Potential).		Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.343G>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	5.361	0.251929	0.10185	.	.	ENSG00000230301	ENST00000383696	T	0.02763	4.17	2.19	-0.869	0.10649	GPCR, rhodopsin-like superfamily (1);	0.545744	0.16469	N	0.213054	T	0.01765	0.0056	N	0.12853	0.265	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43393	-0.9394	10	0.44086	T	0.13	.	7.7076	0.28659	0.428:0.0:0.572:0.0	.	115	Q8NGV6	OR5H6_HUMAN	L	115	ENSP00000373196:V115L	ENSP00000373196:V115L	V	+	1	0	OR5H6	99466161	0.000000	0.05858	0.019000	0.16419	0.004000	0.04260	-3.099000	0.00605	-0.444000	0.07170	-1.220000	0.01600	GTA		0.388	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			23	113	0	0	0	0	23	113				
GTPBP8	29083	broad.mit.edu	37	3	112718380	112718380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:112718380C>G	ENST00000383678.2	+	5	836	c.754C>G	c.(754-756)Caa>Gaa	p.Q252E	GTPBP8_ENST00000467752.1_Missense_Mutation_p.Q141E|GTPBP8_ENST00000473129.1_Missense_Mutation_p.Q102E|GTPBP8_ENST00000383677.3_Missense_Mutation_p.Q219E	NM_014170.2	NP_054889.2	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	252	EngB-type G.				barrier septum assembly (GO:0000917)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						CATGAAAACTCAAGGATGTTT	0.289																																						uc003dzn.2		NA																	0					0						c.(754-756)CAA>GAA		GTP-binding protein 8 isoform 1							102.0	103.0	103.0					3																	112718380		2202	4299	6501	SO:0001583	missense	29083				barrier septum formation		GTP binding	g.chr3:112718380C>G	BC037163	CCDS33820.1, CCDS33821.1	3q13.2	2008-02-05			ENSG00000163607	ENSG00000163607			25007	protein-coding gene	gene with protein product							Standard	NM_014170		Approved	HSPC135	uc003dzn.3	Q8N3Z3	OTTHUMG00000159268	ENST00000383678.2:c.754C>G	3.37:g.112718380C>G	ENSP00000373176:p.Gln252Glu					GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Missense_Mutation_p.Q219E	p.Q252E	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN			5	801	+			252					A6NE99|A6NN11|A8K0P6|Q5I0Y4	Missense_Mutation	SNP	ENST00000383678.2	37	c.754C>G	CCDS33820.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.288521	0.40494	.	.	ENSG00000163607	ENST00000383678;ENST00000383677;ENST00000305485;ENST00000467752;ENST00000473129	T;T;T;T	0.70164	2.68;2.7;2.68;-0.46	5.81	5.81	0.92471	.	0.173971	0.51477	D	0.000083	T	0.74496	0.3724	M	0.70595	2.14	0.37883	D	0.930451	D;P	0.62365	0.991;0.925	P;B	0.56434	0.798;0.374	T	0.71374	-0.4612	10	0.02654	T	1	-25.7854	18.8375	0.92168	0.0:1.0:0.0:0.0	.	219;252	Q8N3Z3-2;Q8N3Z3	.;GTPB8_HUMAN	E	252;219;275;141;102	ENSP00000373176:Q252E;ENSP00000373175:Q219E;ENSP00000417632:Q141E;ENSP00000418514:Q102E	ENSP00000303802:Q275E	Q	+	1	0	GTPBP8	114201070	0.987000	0.35691	1.000000	0.80357	0.804000	0.45430	2.726000	0.47302	2.744000	0.94065	0.655000	0.94253	CAA		0.289	GTPBP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354260.2	NM_014170		14	65	0	0	0	0	14	65				
FSTL1	11167	broad.mit.edu	37	3	120130792	120130792	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:120130792A>C	ENST00000295633.3	-	4	563	c.207T>G	c.(205-207)aaT>aaG	p.N69K	FSTL1_ENST00000424703.2_Missense_Mutation_p.N34K	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	69	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		AGGTCTTGCCATTACTGCCAC	0.473																																						uc003eds.2		NA																	0				central_nervous_system(1)	1						c.(205-207)AAT>AAG		follistatin-like 1 precursor							233.0	185.0	201.0					3																	120130792		2203	4300	6503	SO:0001583	missense	11167				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding	g.chr3:120130792A>C	U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.207T>G	3.37:g.120130792A>C	ENSP00000295633:p.Asn69Lys					FSTL1_uc011bjh.1_Missense_Mutation_p.N34K|FSTL1_uc010hrb.2_Missense_Mutation_p.N69K	p.N69K	NM_007085	NP_009016	Q12841	FSTL1_HUMAN		GBM - Glioblastoma multiforme(114;0.189)	4	382	-			69			Kazal-like.		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	ENST00000295633.3	37	c.207T>G	CCDS2998.1	.	.	.	.	.	.	.	.	.	.	A	18.95	3.732045	0.69189	.	.	ENSG00000163430	ENST00000295633;ENST00000424703;ENST00000469005	T;T;T	0.06528	3.29;3.29;3.29	5.22	-10.4	0.00318	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	M	0.77820	2.39	0.40672	D	0.98222	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.996;0.999	T	0.67810	-0.5574	10	0.72032	D	0.01	-24.2236	21.0928	0.99945	0.8424:0.0:0.1576:0.0	.	34;69;69	B4DTT5;A8K523;Q12841	.;.;FSTL1_HUMAN	K	69;34;69	ENSP00000295633:N69K;ENSP00000394355:N34K;ENSP00000418505:N69K	ENSP00000295633:N69K	N	-	3	2	FSTL1	121613482	0.000000	0.05858	0.418000	0.26571	0.993000	0.82548	-1.530000	0.02221	-2.535000	0.00489	-0.239000	0.12128	AAT		0.473	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355399.1	NM_007085		25	81	0	0	0	0	25	81				
ATR	545	broad.mit.edu	37	3	142185265	142185265	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:142185265C>G	ENST00000350721.4	-	40	6919	c.6798G>C	c.(6796-6798)atG>atC	p.M2266I	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.M2202I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2266					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTGTAGGTATCATGACTGATT	0.403								Other conserved DNA damage response genes																														uc003eux.3		NA																	0				lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6796-6798)ATG>ATC	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							195.0	175.0	182.0					3																	142185265		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142185265C>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6798G>C	3.37:g.142185265C>G	ENSP00000343741:p.Met2266Ile					ATR_uc003euy.1_Missense_Mutation_p.M152I	p.M2266I	NM_001184	NP_001175	Q13535	ATR_HUMAN			40	6920	-			2266					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6798G>C	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103004|3.103004	0.56183|0.56183	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|T;T	.|0.80033	.|-1.33;-1.33	5.36|5.36	5.36|5.36	0.76844|0.76844	.|Protein kinase-like domain (1);	.|0.045148	.|0.85682	.|D	.|0.000000	T|T	0.75273|0.75273	0.3827|0.3827	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	.|B	.|0.27117	.|0.168	.|B	.|0.20577	.|0.03	T|T	0.70662|0.70662	-0.4810|-0.4810	5|10	.|0.18710	.|T	.|0.47	-7.2816|-7.2816	19.0699|19.0699	0.93127|0.93127	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|2266	.|Q13535	.|ATR_HUMAN	H|I	113|2266;2202	.|ENSP00000343741:M2266I;ENSP00000372581:M2202I	.|ENSP00000343741:M2266I	D|M	-|-	1|3	0|0	ATR|ATR	143667955|143667955	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.063000|5.063000	0.64332|0.64332	2.507000|2.507000	0.84556|0.84556	0.585000|0.585000	0.79938|0.79938	GAT|ATG		0.403	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		9	49	0	0	0	0	9	49				
TBL1XR1	79718	broad.mit.edu	37	3	176765338	176765338	+	Splice_Site	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:176765338C>G	ENST00000430069.1	-	8	962		c.e8-1		TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Splice_Site			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1						canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TACCTTCACTCTGCCAGAGAA	0.328																																						uc003fiw.3		NA																	0				ovary(1)	1						c.e8-1		transducin (beta)-like 1 X-linked receptor 1							48.0	46.0	47.0					3																	176765338		1817	4069	5886	SO:0001630	splice_region_variant	79718				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr3:176765338C>G	AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.703-1G>C	3.37:g.176765338C>G						TBL1XR1_uc003fix.3_Splice_Site_p.S235_splice|TBL1XR1_uc011bpz.1_Splice_Site	p.S235_splice	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)		8	963	-	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)						D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Splice_Site	SNP	ENST00000430069.1	37	c.703_splice	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094326	0.76870	.	.	ENSG00000177565	ENST00000430069;ENST00000457928;ENST00000536758	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9717	0.92718	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TBL1XR1	178248032	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.787000	0.85759	2.733000	0.93635	0.655000	0.94253	.		0.328	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3	NM_024665	Intron	8	29	0	0	0	0	8	29				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			11	43	0	0	0	0	11	43				
EPHB3	2049	broad.mit.edu	37	3	184294876	184294876	+	Missense_Mutation	SNP	G	G	A	rs373788594		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr3:184294876G>A	ENST00000330394.2	+	5	1711	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	420	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCCCACACGCGCTACACCTTT	0.627																																						uc003foz.2		NA																	0				lung(5)|breast(2)|upper_aerodigestive_tract(1)|stomach(1)|skin(1)|ovary(1)	11						c.(1258-1260)CGC>CAC		ephrin receptor EphB3 precursor		G	HIS/ARG	0,4406		0,0,2203	54.0	53.0	54.0		1259	3.5	0.9	3		54	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHB3	NM_004443.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	420/999	184294876	1,13005	2203	4300	6503	SO:0001583	missense	2049					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:184294876G>A	X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1259G>A	3.37:g.184294876G>A	ENSP00000332118:p.Arg420His						p.R420H	NM_004443	NP_004434	P54753	EPHB3_HUMAN	Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)		5	1696	+	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		420			Fibronectin type-III 1.|Extracellular (Potential).		Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	c.1259G>A	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541677	0.45280	0.0	1.16E-4	ENSG00000182580	ENST00000330394	T	0.57436	0.4	5.28	3.47	0.39725	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.218024	0.40908	D	0.000994	T	0.35128	0.0921	N	0.21097	0.63	0.37576	D	0.919604	B	0.21688	0.059	B	0.17722	0.019	T	0.24440	-1.0160	10	0.56958	D	0.05	.	7.1789	0.25761	0.3538:0.0:0.6462:0.0	.	420	P54753	EPHB3_HUMAN	H	420	ENSP00000332118:R420H	ENSP00000332118:R420H	R	+	2	0	EPHB3	185777570	1.000000	0.71417	0.942000	0.38095	0.651000	0.38670	4.335000	0.59298	0.712000	0.32039	0.442000	0.29010	CGC		0.627	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443		19	40	0	0	0	0	19	40				
ADD1	118	broad.mit.edu	37	4	2930158	2930158	+	Missense_Mutation	SNP	G	G	A	rs200088947		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:2930158G>A	ENST00000398129.1	+	14	2142	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	ADD1_ENST00000355842.3_3'UTR|ADD1_ENST00000513328.2_3'UTR|ADD1_ENST00000398125.1_3'UTR|ADD1_ENST00000398123.2_3'UTR|ADD1_ENST00000503455.2_3'UTR|ADD1_ENST00000446856.1_Missense_Mutation_p.D708N|ADD1_ENST00000264758.7_Missense_Mutation_p.D739N			P35611	ADDA_HUMAN	adducin 1 (alpha)	708					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCTGGCAGCGATGGGTCTCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		14432	0.001		0.0	False		,,,				2504	0.0				Esophageal Squamous(71;505 1201 20414 34538 37449)	uc003gfr.2		NA																	0				ovary(1)	1						c.(2122-2124)GAT>AAT		adducin 1 (alpha) isoform a		G	ASN/ASP,ASN/ASP,,	1,4403		0,1,2201	53.0	68.0	63.0		2122,2215,,	5.2	0.8	4		63	2,8592		0,2,4295	yes	missense,missense,utr-3,utr-3	ADD1	NM_001119.4,NM_014189.3,NM_014190.3,NM_176801.2	23,23,,	0,3,6496	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging,probably-damaging,,	708/738,739/769,,	2930158	3,12995	2202	4297	6499	SO:0001583	missense	118				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	g.chr4:2930158G>A	L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.2122G>A	4.37:g.2930158G>A	ENSP00000381197:p.Asp708Asn					ADD1_uc003gfn.2_RNA|ADD1_uc003gfo.2_3'UTR|ADD1_uc003gfp.2_3'UTR|ADD1_uc003gfq.2_Missense_Mutation_p.D739N|ADD1_uc003gfs.2_3'UTR	p.D708N	NM_001119	NP_001110	P35611	ADDA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	15	2310	+			708					A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	ENST00000398129.1	37	c.2122G>A	CCDS43205.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.4	4.411838	0.83340	2.27E-4	2.33E-4	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398129	T;T;T	0.49139	0.79;0.79;0.79	5.15	5.15	0.70609	.	0.050011	0.85682	D	0.000000	T	0.55657	0.1934	L	0.46157	1.445	0.80722	D	1	D;D	0.59767	0.976;0.986	P;P	0.52627	0.51;0.704	T	0.59705	-0.7404	10	0.66056	D	0.02	-25.816	18.6168	0.91305	0.0:0.0:1.0:0.0	.	708;739	P35611;P35611-3	ADDA_HUMAN;.	N	739;708;708	ENSP00000264758:D739N;ENSP00000399828:D708N;ENSP00000381197:D708N	ENSP00000264758:D739N	D	+	1	0	ADD1	2899956	1.000000	0.71417	0.751000	0.31187	0.928000	0.56348	9.244000	0.95423	2.389000	0.81357	0.655000	0.94253	GAT		0.632	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242840.1	NM_014189		28	99	0	0	0	0	28	99				
AFM	173	broad.mit.edu	37	4	74350097	74350097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:74350097C>T	ENST00000226355.3	+	3	353	c.260C>T	c.(259-261)tCa>tTa	p.S87L		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	87	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	vitamin E binding (GO:0008431)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAGAGTGTTCAAAATTACCT	0.343																																						uc003hhb.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(259-261)TCA>TTA		afamin precursor							88.0	92.0	90.0					4																	74350097		2203	4300	6503	SO:0001583	missense	173				vitamin transport		vitamin E binding	g.chr4:74350097C>T	L32140	CCDS3557.1	4q13.3	2008-06-11			ENSG00000079557	ENSG00000079557			316	protein-coding gene	gene with protein product		104145				7517938	Standard	NM_001133		Approved	ALB2, ALBA	uc003hhb.3	P43652	OTTHUMG00000130004	ENST00000226355.3:c.260C>T	4.37:g.74350097C>T	ENSP00000226355:p.Ser87Leu						p.S87L	NM_001133	NP_001124	P43652	AFAM_HUMAN	Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		3	291	+	Breast(15;0.00102)		87			Albumin 1.		A8K3E1|Q32MR3|Q4W5C5	Missense_Mutation	SNP	ENST00000226355.3	37	c.260C>T	CCDS3557.1	.	.	.	.	.	.	.	.	.	.	C	5.159	0.214899	0.09810	.	.	ENSG00000079557	ENST00000226355	T	0.38401	1.14	5.09	3.29	0.37713	Serum albumin-like (1);Serum albumin, N-terminal (3);	1.032170	0.07679	N	0.936812	T	0.32436	0.0829	L	0.33245	0.995	0.09310	N	1	P	0.50819	0.939	P	0.51324	0.666	T	0.05903	-1.0857	10	0.02654	T	1	.	7.3614	0.26748	0.0:0.7396:0.1672:0.0932	.	87	P43652	AFAM_HUMAN	L	87	ENSP00000226355:S87L	ENSP00000226355:S87L	S	+	2	0	AFM	74568961	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	0.078000	0.14761	1.155000	0.42497	-0.157000	0.13467	TCA		0.343	AFM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252275.2			12	32	0	0	0	0	12	32				
FNIP2	57600	broad.mit.edu	37	4	159753081	159753081	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:159753081C>T	ENST00000264433.6	+	4	525	c.450C>T	c.(448-450)taC>taT	p.Y150Y	FNIP2_ENST00000379346.3_Silent_p.Y173Y	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	150					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCATGAGTTACAAAGGCTCCA	0.408																																						uc003iqe.3		NA																	0					0						c.(448-450)TAC>TAT		folliculin interacting protein 2							113.0	101.0	105.0					4																	159753081		1960	4180	6140	SO:0001819	synonymous_variant	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159753081C>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.450C>T	4.37:g.159753081C>T						FNIP2_uc003iqd.2_Silent_p.Y150Y	p.Y150Y	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	4	633	+	all_hematologic(180;0.24)		150					Q05DC3|Q96I31|Q9H994	Silent	SNP	ENST00000264433.6	37	c.450C>T	CCDS47155.1																																																																																				0.408	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840		5	15	0	0	0	0	5	15				
WDR17	116966	broad.mit.edu	37	4	177071078	177071078	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:177071078G>C	ENST00000280190.4	+	15	2246	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	WDR17_ENST00000393643.2_Missense_Mutation_p.R673T|WDR17_ENST00000508596.1_Missense_Mutation_p.R673T|WDR17_ENST00000507824.2_Missense_Mutation_p.R680T			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	697										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CTGGCAGACAGATCTTGGGAA	0.383																																						uc003iuj.2		NA																	0				ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1)	6						c.(2089-2091)AGA>ACA		WD repeat domain 17 isoform 1							103.0	107.0	106.0					4																	177071078		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177071078G>C	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.2090G>C	4.37:g.177071078G>C	ENSP00000280190:p.Arg697Thr					WDR17_uc003iuk.2_Missense_Mutation_p.R673T|WDR17_uc003ium.3_Missense_Mutation_p.R673T|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_5'Flank	p.R697T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	15	2246	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	697					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.2090G>C	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	G	14.80	2.642294	0.47153	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.58797	0.35;0.37;0.31	5.38	4.53	0.55603	.	0.125991	0.52532	D	0.000080	T	0.54095	0.1837	M	0.67953	2.075	0.41095	D	0.985626	P;P	0.37914	0.611;0.611	B;B	0.33196	0.159;0.159	T	0.62637	-0.6812	10	0.54805	T	0.06	-27.1883	14.3372	0.66600	0.0726:0.0:0.9273:0.0	.	673;697	E7EQX0;Q8IZU2	.;WDR17_HUMAN	T	673;673;697;680	ENSP00000422763:R673T;ENSP00000377258:R673T;ENSP00000280190:R697T	ENSP00000280190:R697T	R	+	2	0	WDR17	177308072	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.711000	0.61881	2.505000	0.84491	0.563000	0.77884	AGA		0.383	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2			3	83	0	0	0	0	3	83				
FAT1	2195	broad.mit.edu	37	4	187522449	187522449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187522449G>A	ENST00000441802.2	-	21	11823	c.11614C>T	c.(11614-11616)Cga>Tga	p.R3872*	FAT1_ENST00000512347.1_5'Flank	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3872	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCAGTTCCTCGAGCATACATG	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11614-11616)CGA>TGA		FAT tumor suppressor 1 precursor							137.0	136.0	136.0					4																	187522449		1928	4141	6069	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187522449G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11614C>T	4.37:g.187522449G>A	ENSP00000406229:p.Arg3872*	HNSCC(5;0.00058)					p.R3872*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			21	11802	-			3872			Extracellular (Potential).|Laminin G-like.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.11614C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	53	20.171963	0.99928	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.63	4.77	0.60923	.	0.125530	0.52532	D	0.000064	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	13.7468	0.62881	0.0:0.0:0.72:0.28	.	.	.	.	X	3872;3874	.	ENSP00000260147:R3874X	R	-	1	2	FAT1	187759443	0.998000	0.40836	0.601000	0.28877	0.050000	0.14768	3.831000	0.55776	1.486000	0.48398	0.655000	0.94253	CGA		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		11	27	0	0	0	0	11	27				
NUP155	9631	broad.mit.edu	37	5	37303483	37303483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:37303483G>A	ENST00000231498.3	-	28	3399	c.3196C>T	c.(3196-3198)Cga>Tga	p.R1066*	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Nonsense_Mutation_p.R1002*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.R1007*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1066					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGGCCATTCGGACTAGATGT	0.378																																						uc003jku.1		NA																	0				ovary(1)	1						c.(3196-3198)CGA>TGA		nucleoporin 155kDa isoform 1							80.0	76.0	77.0					5																	37303483		2203	4300	6503	SO:0001587	stop_gained	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37303483G>A	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3196C>T	5.37:g.37303483G>A	ENSP00000231498:p.Arg1066*					NUP155_uc003jkt.1_Nonsense_Mutation_p.R1007*|NUP155_uc010iuz.1_Nonsense_Mutation_p.R1002*	p.R1066*	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		28	3314	-	all_lung(31;0.000137)		1066					Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	ENST00000231498.3	37	c.3196C>T	CCDS3921.1	.	.	.	.	.	.	.	.	.	.	G	43	9.859807	0.99281	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.71	4.83	0.62350	.	0.056181	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2398	15.0026	0.71486	0.0:0.0:0.7417:0.2583	.	.	.	.	X	1066;1007;1028;1002	.	ENSP00000231498:R1066X	R	-	1	2	NUP155	37339240	1.000000	0.71417	0.931000	0.37212	0.976000	0.68499	6.337000	0.72958	1.385000	0.46445	0.655000	0.94253	CGA		0.378	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		13	37	0	0	0	0	13	37				
C7	730	broad.mit.edu	37	5	40936557	40936557	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:40936557C>A	ENST00000313164.9	+	5	757	c.398C>A	c.(397-399)cCt>cAt	p.P133H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	133	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				ATCGATAAACCTCCTCCTAAC	0.403																																						uc003jmh.2		NA																	0					0						c.(397-399)CCT>CAT		complement component 7 precursor							93.0	92.0	93.0					5																	40936557		1949	4154	6103	SO:0001583	missense	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40936557C>A	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.398C>A	5.37:g.40936557C>A	ENSP00000322061:p.Pro133His					C7_uc011cpn.1_RNA	p.P133H	NM_000587	NP_000578	P10643	CO7_HUMAN			5	512	+		Ovarian(839;0.0112)	133			MACPF.		Q6P3T5|Q92489	Missense_Mutation	SNP	ENST00000313164.9	37	c.398C>A	CCDS47201.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.681490	0.47991	.	.	ENSG00000112936	ENST00000313164;ENST00000440677;ENST00000515157	T	0.65549	-0.16	5.02	5.02	0.67125	Membrane attack complex component/perforin (MACPF) domain (1);	0.304740	0.35555	N	0.003124	T	0.71459	0.3342	M	0.74881	2.28	0.36594	D	0.874259	D	0.58620	0.983	P	0.54499	0.754	T	0.75852	-0.3171	10	0.37606	T	0.19	-11.9412	13.4613	0.61229	0.1567:0.8433:0.0:0.0	.	133	P10643	CO7_HUMAN	H	133	ENSP00000322061:P133H	ENSP00000322061:P133H	P	+	2	0	C7	40972314	0.849000	0.29639	0.894000	0.35097	0.144000	0.21451	2.106000	0.41835	2.779000	0.95612	0.491000	0.48974	CCT		0.403	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1			17	26	1	0	6.94e-10	9.35e-10	17	26				
CCDC125	202243	broad.mit.edu	37	5	68581236	68581236	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:68581236A>G	ENST00000396496.2	-	11	1265	c.1158T>C	c.(1156-1158)ccT>ccC	p.P386P	CCDC125_ENST00000383374.2_Missense_Mutation_p.L291P|CCDC125_ENST00000511257.1_Silent_p.P261P|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Silent_p.P386P			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	386						cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		TGTTTTCTGAAGGGAGCATAC	0.418																																						uc003jvv.1		NA																	0					0						c.(1156-1158)CCT>CCC		coiled-coil domain containing 125							154.0	144.0	148.0					5																	68581236		2203	4300	6503	SO:0001819	synonymous_variant	202243					cytoplasm		g.chr5:68581236A>G	AB024691	CCDS4000.1, CCDS75255.1	5q13.2	2008-02-05			ENSG00000183323	ENSG00000183323			28924	protein-coding gene	gene with protein product		613781					Standard	XM_005248461		Approved	KENAE	uc003jvv.1	Q86Z20	OTTHUMG00000131259	ENST00000396496.2:c.1158T>C	5.37:g.68581236A>G						CCDC125_uc003jvx.1_Missense_Mutation_p.L327P|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Silent_p.P261P	p.P386P	NM_176816	NP_789786	Q86Z20	CC125_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)	10	1201	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	386					Q86Z19	Silent	SNP	ENST00000396496.2	37	c.1158T>C	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134541	0.37630	.	.	ENSG00000183323	ENST00000383374	T	0.49139	0.79	5.58	5.58	0.84498	.	.	.	.	.	T	0.59404	0.2191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63359	-0.6655	6	0.87932	D	0	-9.6515	10.74	0.46147	0.8575:0.0:0.0:0.1425	.	.	.	.	P	291	ENSP00000372865:L291P	ENSP00000372865:L291P	L	-	2	0	CCDC125	68616992	0.998000	0.40836	0.998000	0.56505	0.724000	0.41520	0.516000	0.22817	2.250000	0.74265	0.454000	0.30748	CTT		0.418	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		17	57	0	0	0	0	17	57				
SPATA9	83890	broad.mit.edu	37	5	94994576	94994576	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:94994576G>C	ENST00000274432.8	-	5	657	c.516C>G	c.(514-516)atC>atG	p.I172M	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	172					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTTCCTGGAAGATGTTCTTTA	0.383																																						uc003klj.1		NA																	0					0						c.(514-516)ATC>ATG		spermatogenesis associated 9							130.0	123.0	125.0					5																	94994576		2203	4300	6503	SO:0001583	missense	83890				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr5:94994576G>C	AK093225	CCDS4076.1	5q15	2008-02-05			ENSG00000145757	ENSG00000145757			22988	protein-coding gene	gene with protein product		608039				12493713	Standard	NM_031952		Approved	NYD-SP16, FLJ35906	uc003klj.1	Q9BWV2	OTTHUMG00000121169	ENST00000274432.8:c.516C>G	5.37:g.94994576G>C	ENSP00000274432:p.Ile172Met					SPATA9_uc010jbh.1_RNA|SPATA9_uc003klh.1_RNA|SPATA9_uc003kli.1_RNA	p.I172M	NM_031952	NP_114158	Q9BWV2	SPAT9_HUMAN		all cancers(79;8.91e-16)	5	672	-		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)	172					A8K8H3|Q4G122|Q86X33|Q8NA28	Missense_Mutation	SNP	ENST00000274432.8	37	c.516C>G	CCDS4076.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.380691	0.24944	.	.	ENSG00000145757	ENST00000274432	T	0.32023	1.47	5.35	1.51	0.23008	.	0.000000	0.64402	D	0.000018	T	0.33702	0.0872	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.18524	-1.0334	10	0.66056	D	0.02	-21.1817	3.379	0.07247	0.644:0.0:0.1884:0.1676	.	172	Q9BWV2	SPAT9_HUMAN	M	172	ENSP00000274432:I172M	ENSP00000274432:I172M	I	-	3	3	SPATA9	95020332	0.995000	0.38212	0.950000	0.38849	0.066000	0.16364	0.509000	0.22707	0.103000	0.17682	-0.334000	0.08254	ATC		0.383	SPATA9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304036.1	NM_031952		12	53	0	0	0	0	12	53				
KCNN2	3781	broad.mit.edu	37	5	113831673	113831673	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:113831673A>G	ENST00000512097.3	+	9	2552	c.1534A>G	c.(1534-1536)Aca>Gca	p.T512A	KCNN2_ENST00000503706.1_Missense_Mutation_p.T164A|KCNN2_ENST00000264773.3_Missense_Mutation_p.T512A|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	512					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TACCCTGGAAACAAAACTAGA	0.448																																						uc003kqo.2		NA																	0				ovary(2)	2						c.(1534-1536)ACA>GCA		small conductance calcium-activated potassium							126.0	129.0	128.0					5																	113831673		2202	4300	6502	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113831673A>G	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1534A>G	5.37:g.113831673A>G	ENSP00000427120:p.Thr512Ala					KCNN2_uc003kqp.2_Missense_Mutation_p.T164A|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.T512A	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	8	1991	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	512					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1534A>G	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	A	11.07	1.531065	0.27387	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98345	-4.88;-3.23	5.28	5.28	0.74379	.	0.097576	0.64402	D	0.000001	D	0.96762	0.8943	M	0.66939	2.045	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	D	0.95631	0.8689	10	0.21540	T	0.41	.	14.9059	0.70718	1.0:0.0:0.0:0.0	.	512	Q9H2S1	KCNN2_HUMAN	A	512;164	ENSP00000264773:T512A;ENSP00000421439:T164A	ENSP00000264773:T512A	T	+	1	0	KCNN2	113859572	1.000000	0.71417	0.617000	0.29091	0.927000	0.56198	6.997000	0.76270	2.009000	0.58944	0.523000	0.50628	ACA		0.448	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		20	116	0	0	0	0	20	116				
PCDHB4	56131	broad.mit.edu	37	5	140501700	140501700	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140501700C>T	ENST00000194152.1	+	1	120	c.120C>T	c.(118-120)agC>agT	p.S40S	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	40	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACAGAGAGCGGCTCCTTTG	0.537																																						uc003lip.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(118-120)AGC>AGT		protocadherin beta 4 precursor							98.0	99.0	98.0					5																	140501700		2203	4300	6503	SO:0001819	synonymous_variant	56131				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	g.chr5:140501700C>T	AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.120C>T	5.37:g.140501700C>T							p.S40S	NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	120	+			40			Cadherin 1.|Extracellular (Potential).		Q4V761	Silent	SNP	ENST00000194152.1	37	c.120C>T	CCDS4246.1																																																																																				0.537	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251812.2	NM_018938		11	57	0	0	0	0	11	57				
PCDHGB2	56103	broad.mit.edu	37	5	140741612	140741612	+	Missense_Mutation	SNP	C	C	T	rs573308473		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:140741612C>T	ENST00000522605.1	+	1	1910	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGGACGCGGCCCGCCAG	0.692																																						uc003ljs.1		NA																	0					0						c.(1909-1911)GCG>GTG		protocadherin gamma subfamily B, 2 isoform 1							13.0	15.0	15.0					5																	140741612		1840	4058	5898	SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741612C>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1910C>T	5.37:g.140741612C>T	ENSP00000429018:p.Ala637Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.A637V|PCDHGA5_uc011das.1_5'Flank	p.A637V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1910	+			637			Extracellular (Potential).|Cadherin 6.		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1910C>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	13.81	2.349241	0.41599	.	.	ENSG00000253910	ENST00000522605	T	0.51325	0.71	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.28067	0.0692	N	0.11313	0.125	0.22096	N	0.999362	P;P	0.39060	0.657;0.53	B;B	0.32533	0.147;0.089	T	0.15464	-1.0436	9	0.62326	D	0.03	.	11.9255	0.52817	0.0:0.9186:0.0:0.0814	.	637;637	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	637	ENSP00000429018:A637V	ENSP00000429018:A637V	A	+	2	0	PCDHGB2	140721796	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.231000	0.17872	2.510000	0.84645	0.454000	0.30748	GCG		0.692	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		8	17	0	0	0	0	8	17				
SH3TC2	79628	broad.mit.edu	37	5	148386619	148386619	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:148386619A>G	ENST00000515425.1	-	16	3601	c.3500T>C	c.(3499-3501)gTg>gCg	p.V1167A	SH3TC2_ENST00000512049.1_Missense_Mutation_p.V1160A|SH3TC2_ENST00000538184.1_Silent_p.G711G|SH3TC2_ENST00000502274.1_Missense_Mutation_p.V29A	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1167					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAAAGGCCACCAGCTCTTG	0.488																																						uc003lpu.2		NA																	0				ovary(2)	2						c.(3499-3501)GTG>GCG		SH3 domain and tetratricopeptide repeats 2							109.0	107.0	108.0					5																	148386619		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148386619A>G	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3500T>C	5.37:g.148386619A>G	ENSP00000423660:p.Val1167Ala					SH3TC2_uc003lpp.1_RNA|SH3TC2_uc010jgw.2_Missense_Mutation_p.V811A|SH3TC2_uc003lps.2_RNA|SH3TC2_uc003lpt.2_Missense_Mutation_p.V714A|SH3TC2_uc010jgx.2_Missense_Mutation_p.V1160A	p.V1167A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		16	3652	-			1167			TPR 7.		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.3500T>C	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228092	0.79576	.	.	ENSG00000169247	ENST00000502274;ENST00000515425;ENST00000512049	T;T;T	0.76186	-0.92;-1.0;-0.94	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.125047	0.56097	D	0.000033	T	0.69387	0.3105	L	0.40543	1.245	0.80722	D	1	P;P;P	0.40282	0.711;0.711;0.711	B;B;B	0.39119	0.291;0.264;0.291	T	0.71676	-0.4521	10	0.52906	T	0.07	-15.8143	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1160;1167;1167	Q14CC0;E9PDF1;Q8TF17	.;.;S3TC2_HUMAN	A	29;1167;1160	ENSP00000421092:V29A;ENSP00000423660:V1167A;ENSP00000421860:V1160A	ENSP00000421092:V29A	V	-	2	0	SH3TC2	148366812	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.951000	0.56684	2.371000	0.80710	0.533000	0.62120	GTG		0.488	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		18	80	0	0	0	0	18	80				
ARSI	340075	broad.mit.edu	37	5	149677008	149677008	+	Silent	SNP	G	G	A	rs141146390	byFrequency	TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr5:149677008G>A	ENST00000328668.7	-	2	2058	c.1479C>T	c.(1477-1479)gcC>gcT	p.A493A		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	493					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTTATATTCGGCCAGGCGAG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		16542	0.002		0.0	False		,,,				2504	0.0					uc003lrv.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1477-1479)GCC>GCT		arylsulfatase family, member I precursor		G		1,4405	2.1+/-5.4	0,1,2202	69.0	77.0	74.0		1479	-4.4	0.7	5	dbSNP_134	74	0,8600		0,0,4300	no	coding-synonymous	ARSI	NM_001012301.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		493/570	149677008	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677008G>A	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1479C>T	5.37:g.149677008G>A							p.A493A	NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	2068	-			493					A1L3B0|B3KV22|B7XD03	Silent	SNP	ENST00000328668.7	37	c.1479C>T	CCDS34275.1																																																																																				0.632	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	NM_001012301		25	95	0	0	0	0	25	95				
HIST1H2BG	8339	broad.mit.edu	37	6	26216707	26216707	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:26216707G>C	ENST00000244601.3	-	1	165	c.165C>G	c.(163-165)atC>atG	p.I55M	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	55					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CCTTGGATGAGATGCCAGTAT	0.537																																						uc003ngz.2		NA																	0				ovary(1)	1						c.(163-165)ATC>ATG		histone cluster 1, H2bg							237.0	214.0	222.0					6																	26216707		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216707G>C	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.165C>G	6.37:g.26216707G>C	ENSP00000244601:p.Ile55Met					HIST1H2AE_uc003nha.1_5'Flank	p.I55M	NM_003518	NP_003509	P62807	H2B1C_HUMAN			1	166	-		all_hematologic(11;0.196)	55					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.165C>G	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.82	2.350066	0.41599	.	.	ENSG00000187990	ENST00000244601	T	0.73152	-0.72	4.12	3.25	0.37280	.	.	.	.	.	T	0.65491	0.2696	.	.	.	0.32424	N	0.548998	.	.	.	.	.	.	T	0.66634	-0.5874	6	0.87932	D	0	.	11.2611	0.49083	0.0907:0.0:0.9093:0.0	.	.	.	.	M	55	ENSP00000244601:I55M	ENSP00000244601:I55M	I	-	3	3	HIST1H2BG	26324686	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	1.288000	0.33296	1.078000	0.41014	0.655000	0.94253	ATC		0.537	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		39	206	0	0	0	0	39	206				
OR2J2	26707	broad.mit.edu	37	6	29142034	29142034	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:29142034G>T	ENST00000377167.2	+	1	724	c.622G>T	c.(622-624)Gtt>Ttt	p.V208F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTCCATTTTTGTTCTCATACC	0.468																																						uc011dlm.1		NA																	0					0						c.(622-624)GTT>TTT		olfactory receptor, family 2, subfamily J,							157.0	132.0	140.0					6																	29142034		1958	4152	6110	SO:0001583	missense	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142034G>T		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.622G>T	6.37:g.29142034G>T	ENSP00000366372:p.Val208Phe						p.V208F	NM_030905	NP_112167	O76002	OR2J2_HUMAN			1	724	+			208			Helical; Name=5; (Potential).		A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Missense_Mutation	SNP	ENST00000377167.2	37	c.622G>T	CCDS43434.1	.	.	.	.	.	.	.	.	.	.	G	8.321	0.824401	0.16678	.	.	ENSG00000204700	ENST00000377167	T	0.29655	1.56	2.0	1.07	0.20283	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.21186	0.0510	N	0.25825	0.765	0.09310	N	1	D	0.63880	0.993	D	0.71414	0.973	T	0.05500	-1.0881	9	0.87932	D	0	.	5.2657	0.15597	0.329:0.0:0.671:0.0	.	208	O76002	OR2J2_HUMAN	F	208	ENSP00000366372:V208F	ENSP00000366372:V208F	V	+	1	0	OR2J2	29250013	0.000000	0.05858	0.595000	0.28798	0.088000	0.18126	-0.251000	0.08818	1.101000	0.41535	0.205000	0.17691	GTT		0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			43	109	1	0	2.27e-22	3.16e-22	43	109				
KCNK5	8645	broad.mit.edu	37	6	39158824	39158824	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:39158824T>C	ENST00000359534.3	-	5	1680	c.1342A>G	c.(1342-1344)Agc>Ggc	p.S448G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	448					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGCTGGGGGCTCTCCTCCCCT	0.627																																						uc003oon.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1342-1344)AGC>GGC		potassium channel, subfamily K, member 5							36.0	38.0	37.0					6																	39158824		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39158824T>C	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.1342A>G	6.37:g.39158824T>C	ENSP00000352527:p.Ser448Gly						p.S448G	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1706	-			448					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.1342A>G	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	T	1.707	-0.499974	0.04291	.	.	ENSG00000164626	ENST00000359534	T	0.20069	2.1	5.55	-6.13	0.02118	.	2.719710	0.00935	N	0.002765	T	0.02929	0.0087	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24764	-1.0151	10	0.35671	T	0.21	.	12.7332	0.57208	0.0:0.144:0.625:0.231	.	448	O95279	KCNK5_HUMAN	G	448	ENSP00000352527:S448G	ENSP00000352527:S448G	S	-	1	0	KCNK5	39266802	0.013000	0.17824	0.086000	0.20670	0.005000	0.04900	0.019000	0.13444	-0.955000	0.03636	-0.290000	0.09829	AGC		0.627	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		4	12	0	0	0	0	4	12				
LGSN	51557	broad.mit.edu	37	6	63989944	63989944	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:63989944G>A	ENST00000370657.4	-	4	1545	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	504					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AATACTCTAAGAATTTATTTC	0.328																																						uc003peh.2		NA																	0				skin(2)	2						c.(1510-1512)TTC>TTT		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						54.0	60.0	58.0					6																	63989944		2198	4297	6495	SO:0001819	synonymous_variant	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63989944G>A	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1512C>T	6.37:g.63989944G>A						LGSN_uc003pei.2_3'UTR	p.F504F	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1546	-			504					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	c.1512C>T	CCDS4964.1																																																																																				0.328	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		9	55	0	0	0	0	9	55				
MYO6	4646	broad.mit.edu	37	6	76591501	76591501	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:76591501G>A	ENST00000369977.3	+	23	2521	c.2382G>A	c.(2380-2382)aaG>aaA	p.K794K	MYO6_ENST00000369981.3_Silent_p.K794K|MYO6_ENST00000369975.1_Silent_p.K794K|MYO6_ENST00000369985.4_Silent_p.K794K|MYO6_ENST00000462633.1_3'UTR	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	794	Required for binding calmodulin. {ECO:0000250}.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTCGCTGGAAGAAAGTTCAGT	0.418																																						uc003pih.1		NA																	0				kidney(1)|pancreas(1)	2						c.(2380-2382)AAG>AAA		myosin VI							151.0	145.0	147.0					6																	76591501		2203	4300	6503	SO:0001819	synonymous_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76591501G>A	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2382G>A	6.37:g.76591501G>A						MYO6_uc003pig.1_Silent_p.K794K|MYO6_uc003pii.1_Silent_p.K794K	p.K794K	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	23	2661	+		all_hematologic(105;0.189)	794			Required for binding calmodulin (By similarity).		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Silent	SNP	ENST00000369977.3	37	c.2382G>A	CCDS34487.1																																																																																				0.418	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		23	77	0	0	0	0	23	77				
MDN1	23195	broad.mit.edu	37	6	90392899	90392899	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:90392899C>T	ENST00000369393.3	-	73	12169	c.12054G>A	c.(12052-12054)ctG>ctA	p.L4018L	MDN1_ENST00000428876.1_Silent_p.L4018L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4018					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTGCCCTGTTCAGATTCTGAA	0.547																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(12052-12054)CTG>CTA		MDN1, midasin homolog							92.0	82.0	86.0					6																	90392899		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90392899C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.12054G>A	6.37:g.90392899C>T							p.L4018L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	73	12170	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4018					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.12054G>A	CCDS5024.1																																																																																				0.547	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			18	47	0	0	0	0	18	47				
RFX6	222546	broad.mit.edu	37	6	117246698	117246698	+	Silent	SNP	C	C	T	rs531536969		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:117246698C>T	ENST00000332958.2	+	16	1777	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	587					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGCGACGCTGTGAAGA	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		18018	0.001		0.0	False		,,,				2504	0.0					uc003pxm.2		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1759-1761)GAC>GAT		regulatory factor X, 6							126.0	122.0	123.0					6																	117246698		2203	4300	6503	SO:0001819	synonymous_variant	222546				glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	g.chr6:117246698C>T	BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1761C>T	6.37:g.117246698C>T							p.D587D	NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN			16	1824	+			587					Q5T6B3	Silent	SNP	ENST00000332958.2	37	c.1761C>T	CCDS5113.1																																																																																				0.517	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041970.2	NM_173560		30	95	0	0	0	0	30	95				
CLVS2	134829	broad.mit.edu	37	6	123319045	123319045	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:123319045G>C	ENST00000275162.5	+	2	1458	c.123G>C	c.(121-123)agG>agC	p.R41S	CLVS2_ENST00000368438.1_Intron	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	41					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TCATCACCAGGCCGGACATTG	0.567																																						uc003pzi.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(121-123)AGG>AGC		retinaldehyde binding protein 1-like 2							178.0	144.0	155.0					6																	123319045		2203	4300	6503	SO:0001583	missense	134829				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr6:123319045G>C	AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.123G>C	6.37:g.123319045G>C	ENSP00000275162:p.Arg41Ser						p.R41S	NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN			2	992	+			41					B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	ENST00000275162.5	37	c.123G>C	CCDS34525.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012030	0.75046	.	.	ENSG00000146352	ENST00000275162	T	0.79247	-1.25	5.39	3.61	0.41365	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62551	0.2437	N	0.25992	0.78	0.80722	D	1	P	0.46277	0.875	P	0.48815	0.591	T	0.68006	-0.5523	10	0.66056	D	0.02	-17.2924	12.321	0.54985	0.1349:0.0:0.8651:0.0	.	41	Q5SYC1	CLVS2_HUMAN	S	41	ENSP00000275162:R41S	ENSP00000275162:R41S	R	+	3	2	CLVS2	123360744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.174000	0.42482	0.834000	0.34852	0.585000	0.79938	AGG		0.567	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042042.2	NM_001010852		19	53	0	0	0	0	19	53				
C6orf118	168090	broad.mit.edu	37	6	165706919	165706919	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:165706919G>A	ENST00000230301.8	-	6	1123	c.1103C>T	c.(1102-1104)tCt>tTt	p.S368F	C6orf118_ENST00000543069.1_Missense_Mutation_p.S264F|C6orf118_ENST00000494696.2_5'Flank	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	368										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TTCCTTTGCAGACTGCAGCAA	0.453																																						uc003qum.3		NA																	0					0						c.(1102-1104)TCT>TTT		hypothetical protein LOC168090							288.0	240.0	257.0					6																	165706919		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165706919G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.1103C>T	6.37:g.165706919G>A	ENSP00000230301:p.Ser368Phe					C6orf118_uc011egi.1_RNA	p.S368F	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	6	1139	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	368			Potential.		Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.1103C>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112753	0.37242	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.19250	2.57;2.16	4.02	1.24	0.21308	.	1.358980	0.04557	N	0.390943	T	0.19685	0.0473	L	0.52573	1.65	0.09310	N	1	D	0.71674	0.998	D	0.64877	0.93	T	0.08722	-1.0708	10	0.87932	D	0	-0.0177	4.2724	0.10792	0.2094:0.1892:0.6014:0.0	.	368	Q5T5N4	CF118_HUMAN	F	368;264	ENSP00000230301:S368F;ENSP00000439288:S264F	ENSP00000230301:S368F	S	-	2	0	C6orf118	165626909	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	0.959000	0.29240	0.253000	0.21552	0.563000	0.77884	TCT		0.453	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		39	109	0	0	0	0	39	109				
DNAH11	8701	broad.mit.edu	37	7	21882167	21882167	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:21882167T>A	ENST00000409508.3	+	66	10728	c.10697T>A	c.(10696-10698)aTc>aAc	p.I3566N	DNAH11_ENST00000328843.6_Missense_Mutation_p.I3573N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3573	AAA 5. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAGGTATATCAGGATTGGA	0.388									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(10717-10719)ATC>AAC		dynein, axonemal, heavy chain 11							109.0	103.0	105.0					7																	21882167		1874	4105	5979	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21882167T>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.10697T>A	7.37:g.21882167T>A	ENSP00000475939:p.Ile3566Asn						p.I3573N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			67	10749	+			3573			AAA 5 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.10718T>A		.	.	.	.	.	.	.	.	.	.	T	19.77	3.889001	0.72524	.	.	ENSG00000105877	ENST00000328843	T	0.32272	1.46	5.36	5.36	0.76844	.	0.046325	0.85682	D	0.000000	T	0.55609	0.1931	.	.	.	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	T	0.61397	-0.7071	9	0.87932	D	0	.	14.348	0.66680	0.0:0.0:0.0:1.0	.	3573	Q96DT5	DYH11_HUMAN	N	3573	ENSP00000330671:I3573N	ENSP00000330671:I3573N	I	+	2	0	DNAH11	21848692	1.000000	0.71417	0.984000	0.44739	0.718000	0.41266	6.291000	0.72719	2.034000	0.60081	0.533000	0.62120	ATC		0.388	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		8	39	0	0	0	0	8	39				
MALSU1	115416	broad.mit.edu	37	7	23339007	23339007	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:23339007C>T	ENST00000466681.1	+	1	189	c.36C>T	c.(34-36)gcC>gcT	p.A12A	MALSU1_ENST00000479974.1_Intron	NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	12					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											GGCTGCTCGCCCCACTAATGT	0.716																																						uc003swd.1		NA																	0					0						c.(34-36)GCC>GCT		hypothetical protein LOC115416							6.0	8.0	8.0					7																	23339007		2004	4140	6144	SO:0001819	synonymous_variant	115416					mitochondrion		g.chr7:23339007C>T	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.36C>T	7.37:g.23339007C>T							p.A12A	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		1	68	+			12					A4D154	Silent	SNP	ENST00000466681.1	37	c.36C>T	CCDS5381.1																																																																																				0.716	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		4	15	0	0	0	0	4	15				
TBX20	57057	broad.mit.edu	37	7	35244106	35244106	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:35244106C>T	ENST00000408931.3	-	7	1505	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	327					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GTCTGACTCTCATCCCCCAAG	0.512																																						uc011kas.1		NA																	0				central_nervous_system(1)	1						c.(979-981)GAG>AAG		T-box transcription factor TBX20							78.0	73.0	75.0					7																	35244106		1952	4152	6104	SO:0001583	missense	57057					nucleus	DNA binding	g.chr7:35244106C>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.979G>A	7.37:g.35244106C>T	ENSP00000386170:p.Glu327Lys						p.E327K	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			7	990	-			327					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	ENST00000408931.3	37	c.979G>A	CCDS43568.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.616309	0.66672	.	.	ENSG00000164532	ENST00000408931	D	0.87809	-2.3	5.88	5.88	0.94601	.	0.112117	0.64402	D	0.000015	T	0.77572	0.4150	N	0.14661	0.345	0.52501	D	0.999954	B	0.26635	0.155	B	0.18263	0.021	T	0.73011	-0.4117	10	0.11182	T	0.66	.	20.2314	0.98350	0.0:1.0:0.0:0.0	.	327	Q9UMR3	TBX20_HUMAN	K	327	ENSP00000386170:E327K	ENSP00000386170:E327K	E	-	1	0	TBX20	35210631	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	7.311000	0.78958	2.789000	0.95967	0.591000	0.81541	GAG		0.512	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		10	36	0	0	0	0	10	36				
ABCA13	154664	broad.mit.edu	37	7	48284272	48284272	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:48284272G>A	ENST00000435803.1	+	11	1386	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	454					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAATGCGATAGCTCAGA	0.418																																						uc003toq.2		NA																	0				ovary(5)|central_nervous_system(4)|skin(1)	10						c.(1360-1362)GCG>GCA		ATP binding cassette, sub-family A (ABC1),							112.0	110.0	111.0					7																	48284272		1877	4105	5982	SO:0001819	synonymous_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48284272G>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1362G>A	7.37:g.48284272G>A						ABCA13_uc010kyr.2_5'UTR	p.A454A	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			11	1387	+			454					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	c.1362G>A	CCDS47584.1																																																																																				0.418	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		18	53	0	0	0	0	18	53				
SEMA3A	10371	broad.mit.edu	37	7	83764187	83764187	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr7:83764187C>T	ENST00000265362.4	-	2	507	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	SEMA3A_ENST00000436949.1_Missense_Mutation_p.E65K	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	65	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTACTCCGTTCCTCATCCAAA	0.383																																						uc003uhz.2		NA																	0				ovary(2)|breast(1)|kidney(1)	4						c.(193-195)GAA>AAA		semaphorin 3A precursor							114.0	107.0	109.0					7																	83764187		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764187C>T	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.193G>A	7.37:g.83764187C>T	ENSP00000265362:p.Glu65Lys						p.E65K	NM_006080	NP_006071	Q14563	SEM3A_HUMAN			2	508	-			65			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.193G>A	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	c	31	5.100831	0.94245	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.10763	2.84;2.84;2.84	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.090555	0.85682	D	0.000000	T	0.28433	0.0703	L	0.46947	1.48	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.01169	-1.1430	10	0.62326	D	0.03	.	18.5015	0.90882	0.0:1.0:0.0:0.0	.	65	Q14563	SEM3A_HUMAN	K	65	ENSP00000265362:E65K;ENSP00000415260:E65K;ENSP00000391900:E65K	ENSP00000265362:E65K	E	-	1	0	SEMA3A	83602123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.388000	0.79795	2.434000	0.82447	0.467000	0.42956	GAA		0.383	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		17	40	0	0	0	0	17	40				
ASAH1	427	broad.mit.edu	37	8	17918918	17918918	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:17918918G>C	ENST00000262097.6	-	10	1064	c.753C>G	c.(751-753)ttC>ttG	p.F251L	ASAH1_ENST00000381733.4_Missense_Mutation_p.F267L|ASAH1_ENST00000520781.1_Missense_Mutation_p.F226L|ASAH1_ENST00000417108.2_Missense_Mutation_p.F161L|ASAH1_ENST00000314146.10_Missense_Mutation_p.F245L	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	251					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTCTAGTGAGGAACCCTATCC	0.328																																						uc003wyl.2		NA																	0					0						c.(751-753)TTC>TTG		N-acylsphingosine amidohydrolase 1 isoform a							99.0	89.0	92.0					8																	17918918		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17918918G>C	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.753C>G	8.37:g.17918918G>C	ENSP00000262097:p.Phe251Leu					ASAH1_uc010ltb.1_RNA|ASAH1_uc003wym.2_Missense_Mutation_p.F226L|ASAH1_uc003wyn.2_Missense_Mutation_p.F267L|ASAH1_uc003wyo.2_Missense_Mutation_p.F245L	p.F251L	NM_177924	NP_808592	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	10	1065	-			251					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.753C>G	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	G	19.87	3.906535	0.72868	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.48	2.85	0.33270	.	0.086186	0.85682	D	0.000000	T	0.79052	0.4381	M	0.64170	1.965	0.58432	D	0.999992	P;P;P;P	0.43578	0.751;0.811;0.751;0.751	P;P;P;P	0.50860	0.652;0.618;0.652;0.652	T	0.78398	-0.2219	10	0.59425	D	0.04	-13.001	8.2645	0.31806	0.7467:0.0:0.2532:0.0	.	245;267;226;251	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	L	251;267;226;161;245	ENSP00000262097:F251L;ENSP00000371152:F267L;ENSP00000427751:F226L;ENSP00000394125:F161L;ENSP00000326970:F245L	ENSP00000262097:F251L	F	-	3	2	ASAH1	17963198	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	1.760000	0.38430	1.036000	0.39998	-0.247000	0.11927	TTC		0.328	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		12	48	0	0	0	0	12	48				
ENTPD4	9583	broad.mit.edu	37	8	23306270	23306270	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:23306270T>C	ENST00000358689.4	-	3	426	c.191A>G	c.(190-192)gAc>gGc	p.D64G	ENTPD4_ENST00000417069.2_Missense_Mutation_p.D64G|ENTPD4_ENST00000356206.6_Missense_Mutation_p.D64G	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	64					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AAATTTCTTGTCTCTGGTTAG	0.378																																						uc003xdl.2		NA																	0				ovary(1)|kidney(1)	2						c.(190-192)GAC>GGC		ectonucleoside triphosphate diphosphohydrolase 4							72.0	74.0	73.0					8																	23306270		2203	4300	6503	SO:0001583	missense	9583				UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity	g.chr8:23306270T>C	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.191A>G	8.37:g.23306270T>C	ENSP00000351520:p.Asp64Gly					ENTPD4_uc011kzu.1_Missense_Mutation_p.D64G|ENTPD4_uc003xdm.2_Missense_Mutation_p.D64G|ENTPD4_uc011kzv.1_Missense_Mutation_p.D64G|ENTPD4_uc011kzw.1_Missense_Mutation_p.D30G	p.D64G	NM_004901	NP_004892	Q9Y227	ENTP4_HUMAN		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)	3	355	-		Prostate(55;0.114)	64			Lumenal (Potential).		D3DSS3|O15092	Missense_Mutation	SNP	ENST00000358689.4	37	c.191A>G	CCDS6041.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.135024	0.56828	.	.	ENSG00000197217	ENST00000356206;ENST00000358689;ENST00000417069;ENST00000518718	T;T;T	0.15017	2.46;2.47;2.46	5.47	5.47	0.80525	.	0.088555	0.85682	D	0.000000	T	0.21631	0.0521	M	0.63843	1.955	0.80722	D	1	B;B;B;B	0.27594	0.182;0.182;0.122;0.108	B;B;B;B	0.27608	0.055;0.055;0.081;0.055	T	0.01839	-1.1263	10	0.49607	T	0.09	-27.441	14.3728	0.66852	0.0:0.0:0.0:1.0	.	64;64;64;64	B4DU21;Q8NE73;Q9Y227-2;Q9Y227	.;.;.;ENTP4_HUMAN	G	64;64;64;30	ENSP00000348536:D64G;ENSP00000351520:D64G;ENSP00000408573:D64G	ENSP00000348536:D64G	D	-	2	0	ENTPD4	23362215	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.302000	0.72788	2.070000	0.61991	0.455000	0.32223	GAC		0.378	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215142.1	NM_004901		17	58	0	0	0	0	17	58				
DOCK5	80005	broad.mit.edu	37	8	25267635	25267635	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:25267635G>A	ENST00000276440.7	+	51	5469	c.5425G>A	c.(5425-5427)Gat>Aat	p.D1809N		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1809	Pro-rich.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTGCAGACAGATGGAATCGC	0.552																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2		NA																	0				ovary(3)	3						c.(5425-5427)GAT>AAT		dedicator of cytokinesis 5							83.0	66.0	72.0					8																	25267635		2203	4300	6503	SO:0001583	missense	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25267635G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.5425G>A	8.37:g.25267635G>A	ENSP00000276440:p.Asp1809Asn					PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xej.2_RNA	p.D1809N	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	51	5562	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1809			Pro-rich.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	c.5425G>A	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	6.341	0.430957	0.12045	.	.	ENSG00000147459	ENST00000276440	T	0.03772	3.81	4.93	4.93	0.64822	.	0.576233	0.17350	N	0.177433	T	0.03348	0.0097	N	0.20530	0.585	0.40103	D	0.976391	P	0.40970	0.734	B	0.31751	0.135	T	0.57533	-0.7795	10	0.10636	T	0.68	.	16.6867	0.85310	0.0:0.0:1.0:0.0	.	1809	Q9H7D0	DOCK5_HUMAN	N	1809	ENSP00000276440:D1809N	ENSP00000276440:D1809N	D	+	1	0	DOCK5	25323552	1.000000	0.71417	0.741000	0.31004	0.005000	0.04900	4.138000	0.58017	2.440000	0.82611	0.655000	0.94253	GAT		0.552	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		9	17	0	0	0	0	9	17				
CSPP1	79848	broad.mit.edu	37	8	68028171	68028171	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:68028171G>T	ENST00000262210.5	+	11	1326	c.1295G>T	c.(1294-1296)aGt>aTt	p.S432I	CSPP1_ENST00000412460.1_Missense_Mutation_p.S138I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	467					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AAGCAGTTTAGTGTGGCACCA	0.413																																						uc003xxi.2		NA																	0				ovary(3)|breast(2)	5						c.(1399-1401)AGT>ATT		centrosome spindle pole associated protein 1							139.0	132.0	134.0					8																	68028171		1862	4109	5971	SO:0001583	missense	79848					centrosome|microtubule|spindle		g.chr8:68028171G>T	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.1295G>T	8.37:g.68028171G>T	ENSP00000262210:p.Ser432Ile					CSPP1_uc003xxg.1_Missense_Mutation_p.S459I|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.S432I|CSPP1_uc003xxk.2_Missense_Mutation_p.S138I	p.S467I	NM_001077204	NP_001070672	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		13	1431	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	467					A6ND63|Q70F00|Q8TBC1	Missense_Mutation	SNP	ENST00000262210.5	37	c.1400G>T	CCDS43744.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.415262	0.83449	.	.	ENSG00000104218	ENST00000262210;ENST00000389042;ENST00000412460;ENST00000519668	T;T;T	0.37058	1.22;1.22;1.22	5.61	5.61	0.85477	.	0.245861	0.35207	N	0.003362	T	0.43255	0.1239	L	0.44542	1.39	0.36287	D	0.856184	P;P;P;P	0.50617	0.853;0.874;0.937;0.937	P;P;P;P	0.49999	0.628;0.466;0.628;0.628	T	0.52087	-0.8622	10	0.66056	D	0.02	-13.4352	16.5547	0.84482	0.0:0.0:1.0:0.0	.	138;432;467;467	Q1MSJ5-2;Q1MSJ5-1;Q1MSJ5;F8W7C3	.;.;CSPP1_HUMAN;.	I	432;467;138;138	ENSP00000262210:S432I;ENSP00000415782:S138I;ENSP00000430092:S138I	ENSP00000262210:S432I	S	+	2	0	CSPP1	68190725	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.983000	0.70540	2.657000	0.90304	0.655000	0.94253	AGT		0.413	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		14	81	1	0	4.38e-07	5.8e-07	14	81				
SLCO5A1	81796	broad.mit.edu	37	8	70585257	70585257	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:70585257G>A	ENST00000260126.4	-	10	3100	c.2394C>T	c.(2392-2394)ttC>ttT	p.F798F	SLCO5A1_ENST00000530307.1_Silent_p.F743F|SLCO5A1_ENST00000524945.1_3'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	798						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGGGTGCTGAAAGCTGGGC	0.577																																						uc003xyl.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(2392-2394)TTC>TTT		solute carrier organic anion transporter family,							104.0	96.0	99.0					8																	70585257		2203	4300	6503	SO:0001819	synonymous_variant	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585257G>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2394C>T	8.37:g.70585257G>A						SLCO5A1_uc010lzb.2_Silent_p.F743F|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.F798F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	3101	-	Breast(64;0.0654)		798			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Silent	SNP	ENST00000260126.4	37	c.2394C>T	CCDS6205.1																																																																																				0.577	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		26	120	0	0	0	0	26	120				
RUNX1T1	862	broad.mit.edu	37	8	93026818	93026818	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:93026818G>A	ENST00000523629.1	-	4	911	c.457C>T	c.(457-459)Ctg>Ttg	p.L153L	RUNX1T1_ENST00000436581.2_Silent_p.L164L|RUNX1T1_ENST00000522163.1_5'Flank|RUNX1T1_ENST00000360348.2_Silent_p.L116L|RUNX1T1_ENST00000521553.1_Silent_p.L116L|RUNX1T1_ENST00000265814.3_Silent_p.L153L|RUNX1T1_ENST00000422361.2_Silent_p.L116L|RUNX1T1_ENST00000518844.1_Silent_p.L126L|RUNX1T1_ENST00000520724.1_Silent_p.L116L|RUNX1T1_ENST00000396218.1_Silent_p.L126L	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	153	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTAGTCCCAGAACGAGGGTG	0.493																																						uc003yfd.2		NA																	0				lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1)	16						c.(457-459)CTG>TTG		acute myelogenous leukemia 1 translocation 1							114.0	106.0	109.0					8																	93026818		2203	4300	6503	SO:0001819	synonymous_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93026818G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.457C>T	8.37:g.93026818G>A						RUNX1T1_uc003yfc.1_Silent_p.L126L|RUNX1T1_uc003yfe.1_Silent_p.L116L|RUNX1T1_uc010mao.2_Silent_p.L126L|RUNX1T1_uc011lgi.1_Silent_p.L164L|RUNX1T1_uc003yfh.1_Silent_p.L116L|RUNX1T1_uc003yfb.1_Silent_p.L116L|RUNX1T1_uc003yff.1_Silent_p.L116L|RUNX1T1_uc003yfg.1_Silent_p.L116L	p.L153L	NM_175634	NP_783552	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		3	541	-			153			TAFH.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Silent	SNP	ENST00000523629.1	37	c.457C>T	CCDS6256.1																																																																																				0.493	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		41	74	0	0	0	0	41	74				
CSMD3	114788	broad.mit.edu	37	8	113564847	113564847	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:113564847T>A	ENST00000297405.5	-	26	4581	c.4337A>T	c.(4336-4338)gAg>gTg	p.E1446V	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1406V|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1446V|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1342V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1446	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGATCTACCTCAATCATCCA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4336-4338)GAG>GTG		CUB and Sushi multiple domains 3 isoform 1							76.0	72.0	74.0					8																	113564847		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113564847T>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4337A>T	8.37:g.113564847T>A	ENSP00000297405:p.Glu1446Val	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.E718V|CSMD3_uc003ynt.2_Missense_Mutation_p.E1406V|CSMD3_uc011lhx.1_Missense_Mutation_p.E1342V	p.E1446V	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			26	4496	-			1446			Extracellular (Potential).|CUB 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4337A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894933	0.72639	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	4.74	4.74	0.60224	CUB (5);	0.000000	0.64402	D	0.000001	T	0.33904	0.0879	L	0.52759	1.655	0.44789	D	0.997792	P;P;B	0.52316	0.94;0.952;0.36	P;P;B	0.56127	0.688;0.792;0.143	T	0.02632	-1.1131	10	0.40728	T	0.16	.	14.7021	0.69162	0.0:0.0:0.0:1.0	.	1342;1446;1406	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	V	1406;1446;786;1342;1446	ENSP00000345799:E1406V;ENSP00000297405:E1446V;ENSP00000341558:E786V;ENSP00000412263:E1342V;ENSP00000343124:E1446V	ENSP00000297405:E1446V	E	-	2	0	CSMD3	113634023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.825000	0.86693	2.115000	0.64714	0.533000	0.62120	GAG		0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		14	34	0	0	0	0	14	34				
FER1L6	654463	broad.mit.edu	37	8	125094566	125094566	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:125094566C>T	ENST00000522917.1	+	33	4464	c.4258C>T	c.(4258-4260)Ctg>Ttg	p.L1420L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Silent_p.L1420L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	1420	C2 5. {ECO:0000255|PROSITE- ProRule:PRU00041}.					integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGAGTCCCTGCTCTCCAT	0.488																																						uc003yqw.2		NA																	0				ovary(5)|skin(5)|central_nervous_system(1)	11						c.(4258-4260)CTG>TTG		fer-1-like 6							155.0	162.0	160.0					8																	125094566		2203	4300	6503	SO:0001819	synonymous_variant	654463					integral to membrane		g.chr8:125094566C>T	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.4258C>T	8.37:g.125094566C>T						uc003yqy.1_Intron	p.L1420L	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		33	4464	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		1420			C2 5.|Cytoplasmic (Potential).			Silent	SNP	ENST00000522917.1	37	c.4258C>T	CCDS43767.1																																																																																				0.488	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		43	149	0	0	0	0	43	149				
LRRC6	23639	broad.mit.edu	37	8	133622423	133622423	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr8:133622423A>T	ENST00000519595.1	-	10	1227	c.1129T>A	c.(1129-1131)Tgc>Agc	p.C377S	LRRC6_ENST00000518642.1_Missense_Mutation_p.C374S|LRRC6_ENST00000250173.1_Missense_Mutation_p.C377S			Q86X45	TILB_HUMAN	leucine rich repeat containing 6	377	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				cilium movement (GO:0003341)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|inner dynein arm assembly (GO:0036159)|male gonad development (GO:0008584)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|reproductive system development (GO:0061458)|sperm motility (GO:0030317)	cilium (GO:0005929)|cytoplasm (GO:0005737)				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TTGGGCATGCAGATGACCAAA	0.433																																						uc003ytk.2		NA																	0				ovary(1)|kidney(1)	2						c.(1129-1131)TGC>AGC		leucine rich repeat containing 6							120.0	104.0	109.0					8																	133622423		2203	4300	6503	SO:0001583	missense	23639					cytoplasm		g.chr8:133622423A>T	U60666	CCDS6365.1	8q24	2013-02-22			ENSG00000129295	ENSG00000129295			16725	protein-coding gene	gene with protein product	"""leucine rich testes protein"""	614930				10775177, 23122586	Standard	NM_012472		Approved	TSLRP, LRTP, CILD19	uc003ytk.4	Q86X45	OTTHUMG00000164646	ENST00000519595.1:c.1129T>A	8.37:g.133622423A>T	ENSP00000429791:p.Cys377Ser					LRRC6_uc003ytl.2_RNA	p.C377S	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		10	1203	-	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		377			CS.		Q13648|Q4G183	Missense_Mutation	SNP	ENST00000519595.1	37	c.1129T>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.697|9.697	1.153546|1.153546	0.21371|0.21371	.|.	.|.	ENSG00000129295|ENSG00000129295	ENST00000519595;ENST00000522789;ENST00000518642;ENST00000250173;ENST00000395414|ENST00000519085	T;T;T;T|.	0.75367|.	-0.93;-0.93;1.12;-0.93|.	5.92|5.92	1.98|1.98	0.26296|0.26296	CS-like domain (1);|.	0.419274|.	0.26780|.	N|.	0.022530|.	T|T	0.29914|0.29914	0.0748|0.0748	L|L	0.29908|0.29908	0.895|0.895	0.31043|0.31043	N|N	0.716046|0.716046	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.30446|0.30446	-0.9978|-0.9978	10|5	0.18710|.	T|.	0.47|.	-1.3445|-1.3445	5.1334|5.1334	0.14922|0.14922	0.4328:0.0:0.0874:0.4798|0.4328:0.0:0.0874:0.4798	.|.	377|.	Q86X45|.	LRRC6_HUMAN|.	S|Q	377;117;374;377;377|98	ENSP00000429791:C377S;ENSP00000428015:C117S;ENSP00000428610:C374S;ENSP00000250173:C377S|.	ENSP00000250173:C377S|.	C|L	-|-	1|2	0|0	LRRC6|LRRC6	133691605|133691605	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.982000|0.982000	0.71751|0.71751	2.775000|2.775000	0.47702|0.47702	0.479000|0.479000	0.27511|0.27511	0.528000|0.528000	0.53228|0.53228	TGC|CTG		0.433	LRRC6-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379578.1	NM_012472		12	78	0	0	0	0	12	78				
KIAA2026	158358	broad.mit.edu	37	9	5922609	5922609	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:5922609C>T	ENST00000399933.3	-	8	3386	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	KIAA2026_ENST00000381461.2_Silent_p.Q1099Q	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1129										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTGTACCTTTCTGTTGAAGTG	0.368																																						uc003zjq.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3385-3387)CAG>CAA		hypothetical protein LOC158358							127.0	121.0	123.0					9																	5922609		1881	4105	5986	SO:0001819	synonymous_variant	158358							g.chr9:5922609C>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3387G>A	9.37:g.5922609C>T						KIAA2026_uc010mht.2_Silent_p.Q304Q	p.Q1129Q	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3603	-		Acute lymphoblastic leukemia(23;0.158)	1129					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Silent	SNP	ENST00000399933.3	37	c.3387G>A																																																																																					0.368	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		4	83	0	0	0	0	4	83				
TRPM3	80036	broad.mit.edu	37	9	73457992	73457992	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:73457992C>G	ENST00000377111.2	-	5	971	c.728G>C	c.(727-729)cGa>cCa	p.R243P	TRPM3_ENST00000358082.3_Missense_Mutation_p.R90P|TRPM3_ENST00000377097.3_Missense_Mutation_p.R90P|TRPM3_ENST00000377105.1_Missense_Mutation_p.R90P|TRPM3_ENST00000396280.5_Missense_Mutation_p.R90P|TRPM3_ENST00000357533.2_Missense_Mutation_p.R245P|TRPM3_ENST00000423814.3_Missense_Mutation_p.R245P|TRPM3_ENST00000396285.1_Missense_Mutation_p.R90P|TRPM3_ENST00000360823.2_Missense_Mutation_p.R90P|TRPM3_ENST00000396283.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377101.1_Missense_Mutation_p.R90P|TRPM3_ENST00000377110.3_Missense_Mutation_p.R243P|TRPM3_ENST00000396292.4_Missense_Mutation_p.R90P|TRPM3_ENST00000408909.2_Missense_Mutation_p.R90P|TRPM3_ENST00000377106.1_Missense_Mutation_p.R90P|TRPM3_ENST00000361823.5_Missense_Mutation_p.R90P	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	243					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TATCTTTCCTCGAGACTTAGA	0.423																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(727-729)CGA>CCA		transient receptor potential cation channel,							96.0	85.0	88.0					9																	73457992		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73457992C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.728G>C	9.37:g.73457992C>G	ENSP00000366315:p.Arg243Pro					TRPM3_uc004ahu.2_Missense_Mutation_p.R73P|TRPM3_uc004ahv.2_Missense_Mutation_p.R73P|TRPM3_uc004ahw.2_Missense_Mutation_p.R90P|TRPM3_uc004ahx.2_Missense_Mutation_p.R90P|TRPM3_uc004ahy.2_Missense_Mutation_p.R90P|TRPM3_uc004ahz.2_Missense_Mutation_p.R90P|TRPM3_uc004aia.2_Missense_Mutation_p.R90P|TRPM3_uc004aib.2_Missense_Mutation_p.R90P|TRPM3_uc004aic.2_Missense_Mutation_p.R243P|TRPM3_uc010mor.2_Missense_Mutation_p.R243P|TRPM3_uc004aie.2_Missense_Mutation_p.R90P|TRPM3_uc004aif.2_Missense_Mutation_p.R90P|TRPM3_uc004aig.2_Missense_Mutation_p.R90P|TRPM3_uc004aii.2_Missense_Mutation_p.R245P	p.R243P	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			5	972	-			243			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.728G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.91|16.91	3.252681|3.252681	0.59212|0.59212	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377097|ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814;ENST00000377101;ENST00000396283;ENST00000361823;ENST00000455451	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27;0.27	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75250|0.75250	0.3824|0.3824	M|M	0.64170|0.64170	1.965|1.965	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D;B;D;P;D;P;D;D;P;P	.|0.89917	.|0.998;1.0;0.213;0.997;0.604;0.999;0.633;0.998;0.999;0.701;0.773	.|D;D;B;D;B;D;B;P;D;B;P	.|0.97110	.|0.979;1.0;0.19;0.956;0.225;0.942;0.133;0.905;0.942;0.16;0.547	T|T	0.74910|0.74910	-0.3503|-0.3503	5|10	.|0.52906	.|T	.|0.07	-21.3638|-21.3638	19.639|19.639	0.95749|0.95749	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|243;245;90;243;243;243;245;90;90;243;90	.|Q9HCF6;Q4VXD2;Q504Y1;Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.|TRPM3_HUMAN;.;.;.;.;.;.;.;.;.;.	Q|P	133|243;243;90;90;90;245;90;90;90;90;245;90;90;90;90	.|ENSP00000366315:R243P;ENSP00000366314:R243P;ENSP00000366310:R90P;ENSP00000354066:R90P;ENSP00000366309:R90P;ENSP00000350140:R245P;ENSP00000386127:R90P;ENSP00000379581:R90P;ENSP00000379587:R90P;ENSP00000350791:R90P;ENSP00000389542:R245P;ENSP00000366305:R90P;ENSP00000379579:R90P;ENSP00000355395:R90P	.|ENSP00000350140:R245P	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72647812|72647812	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.715000|0.715000	0.41141|0.41141	6.079000|6.079000	0.71291|0.71291	2.644000|2.644000	0.89710|0.89710	0.561000|0.561000	0.74099|0.74099	GAG|CGA		0.423	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		7	38	0	0	0	0	7	38				
TRPM6	140803	broad.mit.edu	37	9	77377455	77377455	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:77377455C>T	ENST00000360774.1	-	26	4369	c.4132G>A	c.(4132-4134)Gac>Aac	p.D1378N	TRPM6_ENST00000449912.2_Missense_Mutation_p.D1373N|TRPM6_ENST00000451710.3_Missense_Mutation_p.D1378N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.D1378N|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.D1373N	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1378					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.D1378Y(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTCTGGATGTCCTGTTCAGTT	0.512																																						uc004ajl.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(4132-4134)GAC>AAC		transient receptor potential cation channel,							113.0	111.0	112.0					9																	77377455		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77377455C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4132G>A	9.37:g.77377455C>T	ENSP00000354006:p.Asp1378Asn					TRPM6_uc004ajk.1_Missense_Mutation_p.D1373N|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.D334N	p.D1378N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			26	4370	-			1378			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.4132G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	8.778	0.927528	0.18056	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.52526	0.76;0.76;0.76;0.76;0.66	5.7	2.0	0.26442	.	1.300550	0.04766	N	0.427202	T	0.32285	0.0824	N	0.19112	0.55	0.09310	N	1	B;B;B	0.19817	0.023;0.039;0.039	B;B;B	0.20955	0.014;0.032;0.032	T	0.20940	-1.0260	10	0.20046	T	0.44	.	6.1762	0.20444	0.0:0.6384:0.1398:0.2219	.	1378;1373;1373	Q9BX84;Q9BX84-3;Q9BX84-2	TRPM6_HUMAN;.;.	N	1378;1378;1373;1373;1378;1041;1041	ENSP00000354006:D1378N;ENSP00000407341:D1378N;ENSP00000396672:D1373N;ENSP00000354962:D1373N;ENSP00000366060:D1378N	ENSP00000309693:D1041N	D	-	1	0	TRPM6	76567275	0.007000	0.16637	0.002000	0.10522	0.042000	0.13812	1.087000	0.30865	0.419000	0.25927	0.655000	0.94253	GAC		0.512	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		26	89	0	0	0	0	26	89				
C9orf3	84909	broad.mit.edu	37	9	97522832	97522832	+	Missense_Mutation	SNP	C	C	T	rs145414026		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:97522832C>T	ENST00000375315.2	+	1	767	c.767C>T	c.(766-768)tCg>tTg	p.S256L	C9orf3_ENST00000297979.5_Missense_Mutation_p.S256L|C9orf3_ENST00000277198.2_Missense_Mutation_p.S256L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	256					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAAGGGCGATCGGTTACATGG	0.488																																						uc004ava.2		NA																	0				ovary(1)	1						c.(766-768)TCG>TTG		aminopeptidase O		C	LEU/SER,LEU/SER,LEU/SER	0,4406		0,0,2203	55.0	50.0	52.0		767,767,767	4.8	1.0	9	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	C9orf3	NM_001193329.1,NM_001193331.2,NM_032823.5	145,145,145	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	256/820,256/567,256/721	97522832	2,13004	2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522832C>T	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.767C>T	9.37:g.97522832C>T	ENSP00000364464:p.Ser256Leu					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.S256L|C9orf3_uc004auy.2_Missense_Mutation_p.S256L|C9orf3_uc004auz.1_Missense_Mutation_p.S256L	p.S256L	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	902	+			256					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.767C>T	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891961	0.72524	0.0	2.33E-4	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000427193;ENST00000424143;ENST00000428313	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000003	T	0.21103	0.0508	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;1.0	T	0.00219	-1.1907	10	0.72032	D	0.01	-9.1491	18.3896	0.90478	0.0:1.0:0.0:0.0	.	256;256;256;256	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	L	256;256;256;130;79;38	ENSP00000277198:S256L;ENSP00000297979:S256L;ENSP00000364464:S256L;ENSP00000387736:S130L;ENSP00000402171:S79L;ENSP00000401854:S38L	ENSP00000277198:S256L	S	+	2	0	C9orf3	96562653	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	7.115000	0.77110	2.648000	0.89879	0.467000	0.42956	TCG		0.488	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		5	18	0	0	0	0	5	18				
BRINP1	1620	broad.mit.edu	37	9	121929788	121929788	+	Silent	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:121929788A>T	ENST00000265922.3	-	8	2321	c.1860T>A	c.(1858-1860)cgT>cgA	p.R620R	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	620					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											GAGTCCGACTACGTAGGTAGA	0.537																																						uc004bkc.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1)	8						c.(1858-1860)CGT>CGA		deleted in bladder cancer 1 precursor							126.0	122.0	124.0					9																	121929788		2203	4300	6503	SO:0001819	synonymous_variant	1620				cell cycle arrest|cell death	cytoplasm	protein binding	g.chr9:121929788A>T	AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1860T>A	9.37:g.121929788A>T							p.R620R	NM_014618	NP_055433	O60477	DBC1_HUMAN			8	2316	-			620					Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	ENST00000265922.3	37	c.1860T>A	CCDS6822.1																																																																																				0.537	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055440.2	NM_014618		33	107	0	0	0	0	33	107				
OBP2A	29991	broad.mit.edu	37	9	138439759	138439759	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:138439759C>T	ENST00000539850.1	+	4	346	c.320C>T	c.(319-321)aCg>aTg	p.T107M	OBP2A_ENST00000340780.3_Missense_Mutation_p.T107M|OBP2A_ENST00000371776.1_Missense_Mutation_p.T107M|OBP2A_ENST00000342114.4_Silent_p.D62D			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	107					response to stimulus (GO:0050896)|sensory perception of chemical stimulus (GO:0007606)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCCCGGGACGGACGACTAC	0.607																																						uc004cgb.2		NA																	0					0						c.(319-321)ACG>ATG		odorant binding protein 2A precursor							60.0	53.0	55.0					9																	138439759		2203	4300	6503	SO:0001583	missense	29991				response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	g.chr9:138439759C>T	AJ251029	CCDS6992.1	9q34	2014-01-22			ENSG00000122136	ENSG00000122136		"""Lipocalins"""	23380	protein-coding gene	gene with protein product		164320					Standard	NM_014582		Approved	hOBPIIa, OBP, LCN13	uc004cgb.3	Q9NY56	OTTHUMG00000020909	ENST00000539850.1:c.320C>T	9.37:g.138439759C>T	ENSP00000441028:p.Thr107Met					OBP2A_uc004cgc.2_Missense_Mutation_p.T107M|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Silent_p.D62D	p.T107M	NM_014582	NP_055397	Q9NY56	OBP2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)	4	362	+			107					Q5T8A3|Q9NY50|Q9NY53|Q9NY54|Q9NY55	Missense_Mutation	SNP	ENST00000539850.1	37	c.320C>T	CCDS6992.1	.	.	.	.	.	.	.	.	.	.	c	8.338	0.828034	0.16749	.	.	ENSG00000122136	ENST00000340780;ENST00000371776;ENST00000539850	T;T;T	0.11930	2.73;3.08;3.08	2.25	-4.51	0.03483	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	2.069230	0.02253	N	0.066788	T	0.07234	0.0183	N	0.02539	-0.55	0.09310	N	1	D;B	0.53885	0.963;0.02	P;B	0.49597	0.616;0.013	T	0.05225	-1.0898	10	0.59425	D	0.04	-14.9456	1.3977	0.02264	0.2534:0.1765:0.3975:0.1725	.	107;107	Q5T8A5;Q9NY56	.;OBP2A_HUMAN	M	107	ENSP00000342097:T107M;ENSP00000360841:T107M;ENSP00000441028:T107M	ENSP00000342097:T107M	T	+	2	0	OBP2A	137579580	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.871000	0.04223	-1.791000	0.01261	-1.765000	0.00666	ACG		0.607	OBP2A-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397904.1	NM_014582		10	26	0	0	0	0	10	26				
PNPLA7	375775	broad.mit.edu	37	9	140437130	140437130	+	Silent	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr9:140437130C>T	ENST00000277531.4	-	6	741	c.555G>A	c.(553-555)gtG>gtA	p.V185V	PNPLA7_ENST00000406427.1_Silent_p.V210V	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	185					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCCGTCCTGCACCACACAGA	0.642																																						uc004cnf.2		NA																	0				skin(1)	1						c.(553-555)GTG>GTA		patatin-like phospholipase domain containing 7							42.0	42.0	42.0					9																	140437130		2203	4300	6503	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140437130C>T	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.555G>A	9.37:g.140437130C>T						PNPLA7_uc010ncj.1_Silent_p.V210V	p.V185V	NM_152286	NP_689499	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	6	892	-	all_cancers(76;0.126)		185			cNMP 1.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.555G>A	CCDS7045.1																																																																																				0.642	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		17	40	0	0	0	0	17	40				
DDX53	168400	broad.mit.edu	37	X	23019111	23019111	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:23019111G>T	ENST00000327968.5	+	1	1025	c.937G>T	c.(937-939)Gaa>Taa	p.E313*	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	313	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCTTCACGTGGAAGCTGAATG	0.398																																						uc004daj.2		NA																	0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(937-939)GAA>TAA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							74.0	72.0	73.0					X																	23019111		2203	4300	6503	SO:0001587	stop_gained	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019111G>T	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.937G>T	X.37:g.23019111G>T	ENSP00000368667:p.Glu313*						p.E313*	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1025	+			313			Helicase ATP-binding.		Q0D2N2|Q6NVV4	Nonsense_Mutation	SNP	ENST00000327968.5	37	c.937G>T	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.745424	0.49151	.	.	ENSG00000184735	ENST00000327968	.	.	.	4.3	2.48	0.30137	.	0.306471	0.34291	N	0.004095	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.6223	5.2641	0.15589	0.3675:0.0:0.6325:0.0	.	.	.	.	X	313	.	ENSP00000368667:E313X	E	+	1	0	DDX53	22929032	0.616000	0.27035	0.006000	0.13384	0.028000	0.11728	1.382000	0.34374	0.761000	0.33130	0.600000	0.82982	GAA		0.398	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699		24	49	1	0	5.24e-26	7.34e-26	24	49				
CXorf22	170063	broad.mit.edu	37	X	35989886	35989886	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:35989886A>C	ENST00000297866.5	+	12	2220	c.2154A>C	c.(2152-2154)agA>agC	p.R718S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	718										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTGTGAGAAGAAAGGCACGTG	0.363																																						uc004ddj.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(2152-2154)AGA>AGC		hypothetical protein LOC170063							53.0	49.0	50.0					X																	35989886		2202	4300	6502	SO:0001583	missense	170063							g.chrX:35989886A>C	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2154A>C	X.37:g.35989886A>C	ENSP00000297866:p.Arg718Ser					CXorf22_uc010ngv.2_RNA	p.R718S	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN			12	2213	+			718					Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	c.2154A>C	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	A	8.673	0.903408	0.17760	.	.	ENSG00000165164	ENST00000297866	T	0.15718	2.4	5.84	3.43	0.39272	.	0.279707	0.38058	N	0.001835	T	0.14527	0.0351	M	0.76002	2.32	0.28300	N	0.923158	B	0.28850	0.225	B	0.26517	0.07	T	0.25363	-1.0134	10	0.08179	T	0.78	0.3718	3.8177	0.08822	0.7107:0.0:0.0982:0.191	.	718	Q6ZTR5	CX022_HUMAN	S	718	ENSP00000297866:R718S	ENSP00000297866:R718S	R	+	3	2	CXorf22	35899807	1.000000	0.71417	0.859000	0.33776	0.030000	0.12068	1.981000	0.40628	0.794000	0.33899	0.486000	0.48141	AGA		0.363	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632		16	20	0	0	0	0	16	20				
RIBC1	158787	broad.mit.edu	37	X	53455530	53455530	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:53455530C>T	ENST00000375327.3	+	5	652	c.499C>T	c.(499-501)Caa>Taa	p.Q167*	RIBC1_ENST00000457095.1_Nonsense_Mutation_p.Q167*|RIBC1_ENST00000490702.1_3'UTR|RIBC1_ENST00000414955.2_Intron	NM_001031745.2	NP_001026915.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	167										lung(2)	2						CTTGGAAAGGCAACAGCAGGA	0.562																																						uc004dsk.2		NA																	0					0						c.(499-501)CAA>TAA		RIB43A domain with coiled-coils 1 isoform 1							63.0	53.0	56.0					X																	53455530		2203	4300	6503	SO:0001587	stop_gained	158787							g.chrX:53455530C>T	AK057345	CCDS14353.1, CCDS35299.1, CCDS59168.1	Xp11.23	2006-04-12			ENSG00000158423	ENSG00000158423			26537	protein-coding gene	gene with protein product							Standard	NM_144968		Approved	FLJ32783	uc004dsk.4	Q8N443	OTTHUMG00000021615	ENST00000375327.3:c.499C>T	X.37:g.53455530C>T	ENSP00000364476:p.Gln167*					RIBC1_uc004dsj.1_Nonsense_Mutation_p.Q167*|RIBC1_uc011mog.1_Intron	p.Q167*	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN			5	652	+			167					B4E297|E9PDU2|Q5H931|Q96A80	Nonsense_Mutation	SNP	ENST00000375327.3	37	c.499C>T	CCDS35299.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374758	0.82573	.	.	ENSG00000158423	ENST00000329209;ENST00000457095;ENST00000375327	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-5.136	16.5662	0.84599	0.0:1.0:0.0:0.0	.	.	.	.	X	167	.	ENSP00000332142:Q167X	Q	+	1	0	RIBC1	53472255	0.997000	0.39634	0.040000	0.18447	0.166000	0.22503	4.536000	0.60636	2.168000	0.68352	0.600000	0.82982	CAA		0.562	RIBC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056762.1	NM_144968		15	9	0	0	0	0	15	9				
OGT	8473	broad.mit.edu	37	X	70787355	70787355	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:70787355G>A	ENST00000373719.3	+	20	2812	c.2595G>A	c.(2593-2595)ctG>ctA	p.L865L	OGT_ENST00000373701.3_Silent_p.L855L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	865					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTAGATTCTGAAGCGTGTTC	0.398																																						uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2593-2595)CTG>CTA		O-linked GlcNAc transferase isoform 1							65.0	62.0	63.0					X																	70787355		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70787355G>A	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2595G>A	X.37:g.70787355G>A						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.L855L|OGT_uc004eac.2_Silent_p.L726L|OGT_uc004ead.2_Silent_p.L484L	p.L865L	NM_181672	NP_858058	O15294	OGT1_HUMAN			20	2812	+	Renal(35;0.156)		865					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2595G>A	CCDS14414.1																																																																																				0.398	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		18	40	0	0	0	0	18	40				
NAP1L2	4674	broad.mit.edu	37	X	72433920	72433920	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:72433920C>T	ENST00000373517.3	-	1	764	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	137					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AACTTTCTTTCAATGTCATGA	0.373																																						uc004ebi.2		NA																	0				lung(1)	1						c.(409-411)GAA>AAA		nucleosome assembly protein 1-like 2							136.0	132.0	133.0					X																	72433920		2203	4300	6503	SO:0001583	missense	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433920C>T	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.409G>A	X.37:g.72433920C>T	ENSP00000362616:p.Glu137Lys					NAP1L2_uc011mqj.1_5'UTR	p.E137K	NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN			1	765	-	Renal(35;0.156)		137					B2RE61|B4E161|Q8TAN6	Missense_Mutation	SNP	ENST00000373517.3	37	c.409G>A	CCDS14423.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.144204	0.77888	.	.	ENSG00000186462	ENST00000373517	T	0.54279	0.58	3.31	3.31	0.37934	.	0.000000	0.85682	U	0.000000	T	0.73164	0.3552	M	0.87328	2.875	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.78534	-0.2167	10	0.87932	D	0	5.0057	11.7224	0.51689	0.0:1.0:0.0:0.0	.	137	Q9ULW6	NP1L2_HUMAN	K	137	ENSP00000362616:E137K	ENSP00000362616:E137K	E	-	1	0	NAP1L2	72350645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.837000	0.55820	1.903000	0.55091	0.600000	0.82982	GAA		0.373	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		29	99	0	0	0	0	29	99				
KIAA2022	340533	broad.mit.edu	37	X	73960449	73960449	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:73960449C>A	ENST00000055682.6	-	3	4554	c.3943G>T	c.(3943-3945)Gag>Tag	p.E1315*		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1315					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAGGAAGGCTCCTGAAATTCC	0.532																																						uc004eby.2		NA																	0				ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(3943-3945)GAG>TAG		hypothetical protein LOC340533							121.0	114.0	116.0					X																	73960449		2203	4300	6503	SO:0001587	stop_gained	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73960449C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.3943G>T	X.37:g.73960449C>A	ENSP00000055682:p.Glu1315*						p.E1315*	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			3	4560	-			1315					A7YY87|Q5JUX9|Q8IVE9	Nonsense_Mutation	SNP	ENST00000055682.6	37	c.3943G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	48	14.456636	0.99796	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-14.9931	18.525	0.90968	0.0:1.0:0.0:0.0	.	.	.	.	X	1315	.	ENSP00000055682:E1315X	E	-	1	0	KIAA2022	73877174	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.487000	0.81328	2.317000	0.78254	0.544000	0.68410	GAG		0.532	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		37	110	1	0	7e-10	9.39e-10	37	110				
TBX22	50945	broad.mit.edu	37	X	79281179	79281179	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79281179A>T	ENST00000373294.5	+	4	564	c.536A>T	c.(535-537)cAc>cTc	p.H179L	TBX22_ENST00000373296.3_Missense_Mutation_p.H179L|TBX22_ENST00000442340.1_Missense_Mutation_p.H59L|TBX22_ENST00000373291.1_Missense_Mutation_p.H59L	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	179					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTATGTTCACCCGGACTCA	0.488																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(535-537)CAC>CTC		T-box 22 isoform 1							112.0	81.0	92.0					X																	79281179		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79281179A>T	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.536A>T	X.37:g.79281179A>T	ENSP00000362390:p.His179Leu					TBX22_uc004edi.1_Missense_Mutation_p.H59L|TBX22_uc004edj.1_Missense_Mutation_p.H179L	p.H179L	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			5	670	+			179			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.536A>T	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231548	0.79688	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.93426	-3.22;-3.22;-3.22;-3.22	4.77	4.77	0.60923	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97945	0.9324	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98539	1.0631	10	0.87932	D	0	.	12.252	0.54603	1.0:0.0:0.0:0.0	.	179	Q9Y458	TBX22_HUMAN	L	179;59;179;59	ENSP00000362393:H179L;ENSP00000396394:H59L;ENSP00000362390:H179L;ENSP00000362388:H59L	ENSP00000362388:H59L	H	+	2	0	TBX22	79167835	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	8.735000	0.91549	1.567000	0.49668	0.486000	0.48141	CAC		0.488	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		25	71	0	0	0	0	25	71				
BRWD3	254065	broad.mit.edu	37	X	79946660	79946660	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:79946660G>C	ENST00000373275.4	-	31	3710	c.3494C>G	c.(3493-3495)cCt>cGt	p.P1165R	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1165	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						AACAGCAAAAGGGCTGGCAAA	0.373																																						uc004edt.2		NA																	0				ovary(4)	4						c.(3493-3495)CCT>CGT		bromodomain and WD repeat domain containing 3							70.0	66.0	67.0					X																	79946660		2203	4300	6503	SO:0001583	missense	254065							g.chrX:79946660G>C		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.3494C>G	X.37:g.79946660G>C	ENSP00000362372:p.Pro1165Arg					BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.P761R|BRWD3_uc004edp.2_Missense_Mutation_p.P994R|BRWD3_uc004edq.2_Missense_Mutation_p.P761R|BRWD3_uc010nmj.1_Missense_Mutation_p.P761R|BRWD3_uc004edr.2_Missense_Mutation_p.P835R|BRWD3_uc004eds.2_Missense_Mutation_p.P761R|BRWD3_uc004edu.2_Missense_Mutation_p.P835R|BRWD3_uc004edv.2_Missense_Mutation_p.P761R|BRWD3_uc004edw.2_Missense_Mutation_p.P761R|BRWD3_uc004edx.2_Missense_Mutation_p.P761R|BRWD3_uc004edy.2_Missense_Mutation_p.P761R|BRWD3_uc004edz.2_Missense_Mutation_p.P835R|BRWD3_uc004eea.2_Missense_Mutation_p.P835R|BRWD3_uc004eeb.2_Missense_Mutation_p.P761R	p.P1165R	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			31	3757	-			1165			Bromo 1.		C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	ENST00000373275.4	37	c.3494C>G	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131237	0.77549	.	.	ENSG00000165288	ENST00000373275	T	0.23552	1.9	4.81	4.81	0.61882	Bromodomain (5);	0.053535	0.85682	D	0.000000	T	0.64713	0.2623	H	0.96833	3.89	0.53688	D	0.999974	D	0.63046	0.992	D	0.65684	0.937	T	0.79279	-0.1869	9	.	.	.	-11.528	17.0235	0.86440	0.0:0.0:1.0:0.0	.	1165	Q6RI45	BRWD3_HUMAN	R	1165	ENSP00000362372:P1165R	.	P	-	2	0	BRWD3	79833316	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.263000	0.95617	2.197000	0.70478	0.600000	0.82982	CCT		0.373	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252		14	30	0	0	0	0	14	30				
SLC25A43	203427	broad.mit.edu	37	X	118586008	118586008	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:118586008G>C	ENST00000217909.7	+	4	1071	c.727G>C	c.(727-729)Gat>Cat	p.D243H	SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Missense_Mutation_p.R185T	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	243					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TGGAGGAGTAGATGTCCATTT	0.512																																						uc004erd.2		NA																	0				skin(1)	1						c.(727-729)GAT>CAT		mitochondrial solute carrier protein							70.0	71.0	71.0					X																	118586008		2203	4300	6503	SO:0001583	missense	203427				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chrX:118586008G>C	BC019584	CCDS14577.1	Xq24	2013-05-22			ENSG00000077713	ENSG00000077713		"""Solute carriers"""	30557	protein-coding gene	gene with protein product		300641				16949250	Standard	NM_145305		Approved		uc004erd.3	Q8WUT9	OTTHUMG00000022272	ENST00000217909.7:c.727G>C	X.37:g.118586008G>C	ENSP00000217909:p.Asp243His					SLC25A43_uc004erc.1_RNA|SLC25A43_uc011mtt.1_Missense_Mutation_p.R185T	p.D243H	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN			4	1071	+			243			Solcar 3.		O75854|Q8N9L5	Missense_Mutation	SNP	ENST00000217909.7	37	c.727G>C	CCDS14577.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.958260|3.958260	0.73902|0.73902	.|.	.|.	ENSG00000077713|ENSG00000077713	ENST00000217909;ENST00000326714|ENST00000336249	T|T	0.79247|0.76316	-1.25|-1.01	5.37|5.37	4.48|4.48	0.54585|0.54585	Mitochondrial carrier domain (2);|.	.|.	.|.	.|.	.|.	T|T	0.79470|0.79470	0.4451|0.4451	M|M	0.81802|0.81802	2.56|2.56	0.30397|0.30397	N|N	0.780436|0.780436	D|B	0.89917|0.13594	1.0|0.008	D|B	0.81914|0.14023	0.995|0.01	T|T	0.76457|0.76457	-0.2952|-0.2952	9|9	0.52906|0.66056	T|D	0.07|0.02	.|.	14.0422|14.0422	0.64684|0.64684	0.0:0.148:0.852:0.0|0.0:0.148:0.852:0.0	.|.	243|185	Q8WUT9|B4E1P8	S2543_HUMAN|.	H|T	243;191|185	ENSP00000217909:D243H|ENSP00000338628:R185T	ENSP00000217909:D243H|ENSP00000338628:R185T	D|R	+|+	1|2	0|0	SLC25A43|SLC25A43	118470036|118470036	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.801000|0.801000	0.45260|0.45260	5.867000|5.867000	0.69597|0.69597	0.994000|0.994000	0.38892|0.38892	0.600000|0.600000	0.82982|0.82982	GAT|AGA		0.512	SLC25A43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058028.1	NM_145305		32	112	0	0	0	0	32	112				
F9	2158	broad.mit.edu	37	X	138612944	138612944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:138612944C>G	ENST00000218099.2	+	1	28	c.21C>G	c.(19-21)atC>atG	p.I7M	F9_ENST00000394090.2_Missense_Mutation_p.I7M|F9_ENST00000479617.2_3'UTR	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	7			I -> F (in dbSNP:rs150190385). {ECO:0000269|PubMed:2773937}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	TGAACATGATCATGGCAGAAT	0.413																																						uc004fas.1		NA																	0				lung(2)|ovary(1)	3						c.(19-21)ATC>ATG		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						266.0	213.0	231.0					X																	138612944		2203	4300	6503	SO:0001583	missense	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138612944C>G	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.21C>G	X.37:g.138612944C>G	ENSP00000218099:p.Ile7Met					F9_uc004fat.1_Missense_Mutation_p.I7M	p.I7M	NM_000133	NP_000124	P00740	FA9_HUMAN			1	50	+	Acute lymphoblastic leukemia(192;0.000127)		7		I -> F.			A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Missense_Mutation	SNP	ENST00000218099.2	37	c.21C>G	CCDS14666.1	.	.	.	.	.	.	.	.	.	.	c	12.92	2.082551	0.36758	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	D;D	0.92299	-2.94;-3.01	4.55	4.55	0.56014	.	0.674127	0.14203	N	0.334557	D	0.87430	0.6175	L	0.44542	1.39	0.22142	N	0.999332	P;B	0.37864	0.61;0.004	B;B	0.33042	0.157;0.004	T	0.80603	-0.1309	10	0.42905	T	0.14	.	11.526	0.50580	0.0:1.0:0.0:0.0	.	7;7	Q5FBE1;P00740	.;FA9_HUMAN	M	7	ENSP00000218099:I7M;ENSP00000377650:I7M	ENSP00000218099:I7M	I	+	3	3	F9	138440610	1.000000	0.71417	0.974000	0.42286	0.822000	0.46500	1.811000	0.38942	2.099000	0.63709	0.591000	0.81541	ATC		0.413	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			13	144	0	0	0	0	13	144				
AFF2	2334	broad.mit.edu	37	X	148037550	148037550	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148037550G>C	ENST00000370460.2	+	11	2454	c.1975G>C	c.(1975-1977)Gaa>Caa	p.E659Q	AFF2_ENST00000342251.3_Missense_Mutation_p.E626Q|AFF2_ENST00000370457.5_Missense_Mutation_p.E626Q|AFF2_ENST00000286437.5_Missense_Mutation_p.E300Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	659					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAGAAAAAGAAAGTGTGGA	0.483																																						uc004fcp.2		NA																	0				ovary(3)|pancreas(2)	5						c.(1975-1977)GAA>CAA		fragile X mental retardation 2							92.0	99.0	96.0					X																	148037550		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037550G>C	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1975G>C	X.37:g.148037550G>C	ENSP00000359489:p.Glu659Gln					AFF2_uc004fcq.2_Missense_Mutation_p.E649Q|AFF2_uc004fcr.2_Missense_Mutation_p.E620Q|AFF2_uc011mxb.1_Missense_Mutation_p.E624Q|AFF2_uc004fcs.2_Missense_Mutation_p.E626Q|AFF2_uc011mxc.1_Missense_Mutation_p.E300Q	p.E659Q	NM_002025	NP_002016	P51816	AFF2_HUMAN			11	2454	+	Acute lymphoblastic leukemia(192;6.56e-05)		659					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.1975G>C	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177514	0.38413	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.56	3.78	0.43462	.	0.452392	0.24798	N	0.035518	T	0.50922	0.1644	L	0.40543	1.245	0.29507	N	0.854472	B;B;B;B;B;B	0.19445	0.016;0.033;0.033;0.033;0.029;0.036	B;B;B;B;B;B	0.24155	0.013;0.03;0.03;0.03;0.03;0.051	T	0.43686	-0.9376	10	0.23891	T	0.37	.	10.6589	0.45690	0.0734:0.129:0.7976:0.0	.	300;624;626;620;649;659	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	659;626;626;300	ENSP00000359489:E659Q;ENSP00000359486:E626Q;ENSP00000345459:E626Q;ENSP00000286437:E300Q	ENSP00000286437:E300Q	E	+	1	0	AFF2	147845250	1.000000	0.71417	0.937000	0.37676	0.798000	0.45092	8.149000	0.89632	0.514000	0.28300	0.600000	0.82982	GAA		0.483	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025		39	159	0	0	0	0	39	159				
MAGEA11	4110	broad.mit.edu	37	X	148797305	148797305	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:148797305G>T	ENST00000355220.5	+	4	336	c.234G>T	c.(232-234)agG>agT	p.R78S	MAGEA11_ENST00000333104.4_Missense_Mutation_p.R49S	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	78						cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGTCCCAGGAGAACCCAGA	0.502																																						uc004fdq.2		NA																	0				ovary(2)	2						c.(232-234)AGG>AGT		melanoma antigen family A, 11 isoform a							134.0	125.0	128.0					X																	148797305		2203	4300	6503	SO:0001583	missense	4110					cytoplasm|nucleus	protein binding	g.chrX:148797305G>T		CCDS48180.1	Xq28	2009-03-13			ENSG00000185247	ENSG00000185247			6798	protein-coding gene	gene with protein product	"""MAGE-11 antigen"", ""melanoma-associated antigen 11"", ""cancer/testis antigen family 1, member 11"""	300344		MAGE11		8575766	Standard	NM_001011544		Approved	MAGE-11, MAGEA-11, MGC10511, CT1.11	uc004fdq.3	P43364	OTTHUMG00000022633	ENST00000355220.5:c.234G>T	X.37:g.148797305G>T	ENSP00000347358:p.Arg78Ser					HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Missense_Mutation_p.R49S	p.R78S	NM_005366	NP_005357	P43364	MAGAB_HUMAN			4	336	+	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		78					Q5ETU4|Q6ZRZ5	Missense_Mutation	SNP	ENST00000355220.5	37	c.234G>T	CCDS48180.1	.	.	.	.	.	.	.	.	.	.	N	4.246	0.044655	0.08196	.	.	ENSG00000185247	ENST00000412632;ENST00000333104;ENST00000355220	T;T;T	0.03358	3.96;4.33;4.28	0.88	-0.0385	0.13880	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B;B	0.28378	0.209;0.133	B;B	0.17722	0.019;0.008	T	0.45041	-0.9288	8	0.02654	T	1	.	.	.	.	.	49;78	G5E962;P43364	.;MAGAB_HUMAN	S	49;49;78	ENSP00000391496:R49S;ENSP00000328177:R49S;ENSP00000347358:R78S	ENSP00000328177:R49S	R	+	3	2	MAGEA11	148577100	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.408000	0.02485	-0.094000	0.12374	-0.494000	0.04653	AGG		0.502	MAGEA11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058725.4	NM_005366		31	124	1	0	2e-19	2.77e-19	31	124				
PNMA5	114824	broad.mit.edu	37	X	152159807	152159807	+	Silent	SNP	A	A	G			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:152159807A>G	ENST00000439251.1	-	2	774	c.336T>C	c.(334-336)gaT>gaC	p.D112D	PNMA5_ENST00000535214.1_Silent_p.D112D|PNMA5_ENST00000452693.1_Silent_p.D112D|PNMA5_ENST00000361887.5_Silent_p.D112D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	112					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ttcggccctcatctttcagga	0.547																																						uc010ntw.2		NA																	0				ovary(1)|skin(1)	2						c.(334-336)GAT>GAC		paraneoplastic antigen like 5							120.0	118.0	119.0					X																	152159807		2203	4300	6503	SO:0001819	synonymous_variant	114824				apoptosis			g.chrX:152159807A>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.336T>C	X.37:g.152159807A>G						PNMA5_uc004fha.3_Silent_p.D112D|PNMA5_uc010ntx.2_Silent_p.D112D|PNMA5_uc004fgy.3_Silent_p.D112D	p.D112D	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	675	-	Acute lymphoblastic leukemia(192;6.56e-05)		112					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Silent	SNP	ENST00000439251.1	37	c.336T>C	CCDS14718.1																																																																																				0.547	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		46	241	0	0	0	0	46	241				
LAGE3	8270	broad.mit.edu	37	X	153706741	153706741	+	Silent	SNP	G	G	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chrX:153706741G>A	ENST00000357360.4	-	2	539	c.198C>T	c.(196-198)agC>agT	p.S66S	LAGE3_ENST00000407062.1_Silent_p.S66S	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	66					tRNA processing (GO:0008033)	nucleus (GO:0005634)				lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAAGGCACGCTGAGGGTGC	0.602																																						uc004fln.1		NA																	0					0						c.(196-198)AGC>AGT		L antigen family, member 3							50.0	47.0	48.0					X																	153706741		2203	4300	6503	SO:0001819	synonymous_variant	8270						protein binding	g.chrX:153706741G>A	X92896	CCDS14753.1	Xq28	2011-08-12			ENSG00000196976	ENSG00000196976			26058	protein-coding gene	gene with protein product	"""DNA segment on chromosome X (unique) 9879 expressed sequence"""	300060				8786131	Standard	NM_006014		Approved	ITBA2, CVG5, DXS9951E, DXS9879E, ESO3	uc004fln.1	Q14657	OTTHUMG00000033294	ENST00000357360.4:c.198C>T	X.37:g.153706741G>A							p.S66S	NM_006014	NP_006005	Q14657	LAGE3_HUMAN			2	540	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		66					Q5HY39|Q8IZ78	Silent	SNP	ENST00000357360.4	37	c.198C>T	CCDS14753.1																																																																																				0.602	LAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081651.2	NM_006014		24	110	0	0	0	0	24	110				
COPZ1	22818	broad.mit.edu	37	12	54718955	54718956	+	In_Frame_Ins	INS	-	-	GCG	rs200166993		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr12:54718955_54718956insGCG	ENST00000262061.2	+	1	45_46	c.8_9insGCG	c.(7-12)gcgctg>gcGCGgctg	p.3_4AL>ARL	COPZ1_ENST00000552362.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000551779.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000416254.2_5'UTR|COPZ1_ENST00000548753.1_5'Flank|COPZ1_ENST00000552218.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000553231.1_In_Frame_Ins_p.3_4AL>ARL|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000549116.1_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000455864.2_In_Frame_Ins_p.3_4AL>ARL|COPZ1_ENST00000549043.1_5'UTR	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	3					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						AAGATGGAGGCGCTGATTTTGG	0.619											OREG0021891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001sfs.1		NA																	0					0						c.(7-9)GCG>GCGCGG		coatomer protein complex, subunit zeta 1				2,4222		0,2,2110						5.4	1.0			26	22,8146		1,20,4063	no	coding	COPZ1	NM_016057.1		1,22,6173	A1A1,A1R,RR		0.2693,0.0473,0.1937				24,12368				SO:0001652	inframe_insertion	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54718955_54718956insGCG	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		Exception_encountered	12.37:g.54718955_54718956insGCG	ENSP00000262061:p.Ala3_Leu4insArg		OREG0021891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1002	COPZ1_uc001sft.2_5'UTR|COPZ1_uc009znm.1_5'UTR|COPZ1_uc010sot.1_In_Frame_Ins_p.3_4insR	p.3_4insR	NM_016057	NP_057141	P61923	COPZ1_HUMAN			1	45_46	+			3_4					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	In_Frame_Ins	INS	ENST00000262061.2	37	c.8_9insGCG	CCDS8877.1																																																																																				0.619	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		5	4	NA	NA	NA	NA	5	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578267	7578267	+	Frame_Shift_Del	DEL	A	A	-	rs370216745		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr17:7578267delA	ENST00000269305.4	-	6	771	c.582delT	c.(580-582)cttfs	p.L194fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.L194fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.L194fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.L194fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763}.|L -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(6)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*52(3)|p.P191_E198>Q(3)|p.I63fs*>28(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCACTCGGATAAGATGCTGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		40	Deletion - Frameshift(9)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Substitution - coding silent(4)|Insertion - Frameshift(1)|Complex - frameshift(1)	p.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.L194fs*15(2)|p.K164_P219del(1)|p.I195fs*14(1)|p.L194fs*52(1)|p.L194V(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.L194I(1)|p.I195fs*12(1)	biliary_tract(11)|breast(6)|skin(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(2)|large_intestine(2)|ovary(2)|stomach(1)|urinary_tract(1)|lung(1)|oesophagus(1)|prostate(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(580-582)CTTfs	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							97.0	87.0	90.0					17																	7578267		2203	4300	6503	SO:0001589	frameshift_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578267delA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.582delT	17.37:g.7578267delA	ENSP00000269305:p.Leu194fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.2_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.1_Frame_Shift_Del_p.L155fs	p.L194fs	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	776	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	194		L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.582delT	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	33	NA	NA	NA	NA	9	33	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102638648	102638649	+	Splice_Site	INS	-	-	A			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr2:102638648_102638649insA	ENST00000332549.3	+	6	917_918		c.e6-1		IL1R2_ENST00000441002.1_Splice_Site|IL1R2_ENST00000393414.2_Splice_Site	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II						cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATCTTTCTCAGAAAAAAAAGAA	0.441																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2		NA																	0				ovary(1)|breast(1)	2						c.e6-1		interleukin 1 receptor, type II precursor	Anakinra(DB00026)																																			SO:0001630	splice_region_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102638648_102638649insA	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.689-1->A	2.37:g.102638656_102638656dupA						IL1R2_uc002tbn.2_Splice_Site_p.K230_splice|IL1R2_uc002tbo.1_Splice_Site_p.K230_splice	p.K230_splice	NM_004633	NP_004624	P27930	IL1R2_HUMAN			6	918	+								D3DVJ5|Q6LCE6|Q9UE68	Splice_Site	INS	ENST00000332549.3	37	c.689_splice	CCDS2054.1																																																																																				0.441	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	Intron	7	218	NA	NA	NA	NA	7	218	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540720	187540742	+	Frame_Shift_Del	DEL	GCCAGTGCTGCTGTCTACATGAA	GCCAGTGCTGCTGTCTACATGAA	-	rs377454944|rs192720031		TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr4:187540720_187540742delGCCAGTGCTGCTGTCTACATGAA	ENST00000441802.2	-	10	7207_7229	c.6998_7020delTTCATGTAGACAGCAGCACTGGC	c.(6997-7020)tttcatgtagacagcagcactggcfs	p.FHVDSSTG2333fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2333	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGAGATGAGGCCAGTGCTGCTGTCTACATGAAAATGATCATG	0.48										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(6997-7020)TTTCATGTAGACAGCAGCACTGGCfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540720_187540742delGCCAGTGCTGCTGTCTACATGAA	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.6998_7020delTTCATGTAGACAGCAGCACTGGC	4.37:g.187540720_187540742delGCCAGTGCTGCTGTCTACATGAA	ENSP00000406229:p.Phe2333fs	HNSCC(5;0.00058)					p.F2333fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7186_7208	-			2333_2340			Extracellular (Potential).|Cadherin 21.			Frame_Shift_Del	DEL	ENST00000441802.2	37	c.6998_7020delTTCATGTAGACAGCAGCACTGGC	CCDS47177.1																																																																																				0.480	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	154	NA	NA	NA	NA	8	154	---	---	---	---
AKAP7	9465	broad.mit.edu	37	6	131540807	131540807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CQ-6218-01A-11D-1912-08	TCGA-CQ-6218-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	d3717097-7cdb-446f-a020-78c770362656	8e02ba07-6e8c-4016-af03-7601c57fbc9a	g.chr6:131540807delA	ENST00000431975.2	+	7	807	c.709delA	c.(709-711)aaafs	p.K238fs	AKAP7_ENST00000541650.1_Frame_Shift_Del_p.K237fs|AKAP7_ENST00000368123.4_Frame_Shift_Del_p.K216fs|AKAP7_ENST00000537868.1_5'UTR|AKAP7_ENST00000263050.3_5'UTR	NM_016377.3	NP_057461.2	Q9P0M2	AKA7G_HUMAN	A kinase (PRKA) anchor protein 7	238						cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|nucleotide binding (GO:0000166)|protein kinase A binding (GO:0051018)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CAAGGGAGTGAAAAAAATAGA	0.308																																						uc003qck.2		NA																	0				ovary(2)	2						c.(709-711)AAAfs		A-kinase anchor protein 7 isoform gamma							56.0	61.0	59.0					6																	131540807		2202	4292	6494	SO:0001589	frameshift_variant	9465				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding	g.chr6:131540807delA	AF047715	CCDS5142.1, CCDS5143.1, CCDS5144.1, CCDS5142.2	6q23.2	2012-10-24			ENSG00000118507	ENSG00000118507		"""A-kinase anchor proteins"""	377	protein-coding gene	gene with protein product		604693				9545239	Standard	NM_016377		Approved	AKAP18, AKAP15	uc003qck.4	O43687	OTTHUMG00000015563	ENST00000431975.2:c.709delA	6.37:g.131540807delA	ENSP00000405252:p.Lys238fs					AKAP7_uc011ebz.1_Frame_Shift_Del_p.K215fs|AKAP7_uc003qcl.1_Frame_Shift_Del_p.K118fs	p.K237fs	NM_016377	NP_057461	O43687	AKA7A_HUMAN		GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)	7	742	+	Breast(56;0.152)		Error:Variant_position_missing_in_O43687_after_alignment					B4DUC3|Q9HCZ8	Frame_Shift_Del	DEL	ENST00000431975.2	37	c.709delA	CCDS5142.2																																																																																				0.308	AKAP7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042209.2	NM_004842		7	34	NA	NA	NA	NA	7	34	---	---	---	---
