#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
RERE	473	broad.mit.edu	37	1	8425906	8425906	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:8425906G>A	ENST00000337907.3	-	14	2047	c.1413C>T	c.(1411-1413)gtC>gtT	p.V471V	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000460659.1_5'Flank|RERE_ENST00000400907.2_Silent_p.V471V|RERE_ENST00000400908.2_Silent_p.V471V|RERE_ENST00000377464.1_Silent_p.V203V	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	471					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGGTGTGTTGACGGGTGTGG	0.632																																						uc001ape.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1411-1413)GTC>GTT		atrophin-1 like protein isoform a							94.0	98.0	96.0					1																	8425906		2203	4300	6503	SO:0001819	synonymous_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8425906G>A	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.1413C>T	1.37:g.8425906G>A						RERE_uc001apf.2_Silent_p.V471V|RERE_uc010nzx.1_Silent_p.V203V|RERE_uc001apd.2_5'UTR	p.V471V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	14	2223	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	471					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	c.1413C>T	CCDS95.1																																																																																				0.632	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			4	63	0	0	0	0	4	63				
MRTO4	51154	broad.mit.edu	37	1	19583616	19583616	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:19583616G>A	ENST00000330263.4	+	4	547	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)	84					ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCATCTGATGAATACAAAGA	0.537																																					GBM(192;2418 3032 7540 48714)	uc001bbs.2		NA																	0					0						c.(250-252)GAA>AAA		mRNA turnover 4 homolog							229.0	216.0	220.0					1																	19583616		2203	4300	6503	SO:0001583	missense	51154				ribosome biogenesis	nuclear membrane|nucleolus		g.chr1:19583616G>A	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.250G>A	1.37:g.19583616G>A	ENSP00000364320:p.Glu84Lys						p.E84K	NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	4	505	+		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	84					B3KNB3|Q5TG55|Q96SS6|Q9BPV9	Missense_Mutation	SNP	ENST00000330263.4	37	c.250G>A	CCDS191.1	.	.	.	.	.	.	.	.	.	.	G	36	5.685367	0.96784	.	.	ENSG00000053372	ENST00000330263	T	0.48522	0.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.78223	2.4	0.80722	D	1	D	0.64830	0.994	P	0.61940	0.896	T	0.70633	-0.4818	10	0.66056	D	0.02	-34.5654	16.6898	0.85318	0.0:0.0:1.0:0.0	.	84	Q9UKD2	MRT4_HUMAN	K	84	ENSP00000364320:E84K	ENSP00000364320:E84K	E	+	1	0	MRTO4	19456203	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	8.679000	0.91220	2.728000	0.93425	0.655000	0.94253	GAA		0.537	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007075.2	NM_016183		18	234	0	0	0	0	18	234				
PHC2	1912	broad.mit.edu	37	1	33832909	33832909	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:33832909G>A	ENST00000257118.5	-	6	837	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Silent_p.L262L|PHC2_ENST00000431992.1_Silent_p.L233L	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	262					multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGGTAGGCAGAGGCTGGCTA	0.632											OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bxg.1		NA																	0				ovary(1)	1						c.(784-786)CTG>TTG		polyhomeotic-like 2 isoform a							56.0	68.0	64.0					1																	33832909		2203	4300	6503	SO:0001819	synonymous_variant	1912				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding	g.chr1:33832909G>A	AJ419231	CCDS378.1, CCDS379.1	1p34.3	2013-01-10	2006-09-12	2002-11-15	ENSG00000134686	ENSG00000134686		"""Sterile alpha motif (SAM) domain containing"""	3183	protein-coding gene	gene with protein product		602979	"""early development regulator 2 (homolog of polyhomeotic 2)"", ""polyhomeotic-like 2 (Drosophila)"""	EDR2		9121482, 12384788	Standard	NM_198040		Approved	HPH2	uc001bxg.1	Q8IXK0	OTTHUMG00000004133	ENST00000257118.5:c.784C>T	1.37:g.33832909G>A			OREG0013344	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	843	PHC2_uc001bxh.1_Silent_p.L233L|PHC2_uc009vuh.1_Silent_p.L262L|PHC2_uc001bxi.1_Silent_p.L262L	p.L262L	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN			6	838	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	262					A1L4Q1|A8KA40|D3DPR2|Q2TAL3|Q5T0C1|Q6NUJ6|Q6ZQR1|Q8N306|Q8TAG8|Q96BL4|Q9Y4Y7	Silent	SNP	ENST00000257118.5	37	c.784C>T	CCDS378.1																																																																																				0.632	PHC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000011895.1	NM_198040		6	129	0	0	0	0	6	129				
DNALI1	7802	broad.mit.edu	37	1	38027808	38027808	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:38027808G>A	ENST00000296218.7	+	5	779	c.769G>A	c.(769-771)Gag>Aag	p.E257K	DNALI1_ENST00000541606.1_Missense_Mutation_p.E109K|DNALI1_ENST00000497858.1_3'UTR	NM_003462.3	NP_003453.2	O14645	IDLC_HUMAN	dynein, axonemal, light intermediate chain 1	235					cellular component movement (GO:0006928)|metabolic process (GO:0008152)|single fertilization (GO:0007338)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|filopodium (GO:0030175)	microtubule motor activity (GO:0003777)			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCACAATGAGGAGATTCAGTT	0.587																																						uc001cbj.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(769-771)GAG>AAG		dynein, axonemal, light intermediate chain 1							117.0	107.0	110.0					1																	38027808		2203	4300	6503	SO:0001583	missense	7802				cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity	g.chr1:38027808G>A	AF006386	CCDS420.1	1p35.1	2008-07-18	2006-09-04		ENSG00000163879	ENSG00000163879		"""Axonemal dyneins"""	14353	protein-coding gene	gene with protein product	"""inner dynein arm, homolog of clamydomonas"", ""dJ423B22.5 (axonemal dynein light chain (hp28))"""	602135	"""dynein, axonemal, light intermediate polypeptide 1"""			9284741	Standard	NM_003462		Approved	P28, hp28, dJ423B22.5	uc001cbj.3	O14645	OTTHUMG00000004222	ENST00000296218.7:c.769G>A	1.37:g.38027808G>A	ENSP00000296218:p.Glu257Lys					DNALI1_uc010oie.1_RNA	p.E257K	NM_003462	NP_003453	O14645	IDLC_HUMAN			5	779	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	235			Potential.		A8K387|B4DHN6|Q05BL9|Q5HYE2|Q5TGH0|Q7L0I5	Missense_Mutation	SNP	ENST00000296218.7	37	c.769G>A	CCDS420.1	.	.	.	.	.	.	.	.	.	.	G	36	5.880180	0.97062	.	.	ENSG00000163879	ENST00000296218;ENST00000541606	T	0.54071	0.59	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80824	0.4697	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84868	0.0823	10	0.59425	D	0.04	-20.0029	19.5591	0.95366	0.0:0.0:1.0:0.0	.	235	O14645	IDLC_HUMAN	K	257;109	ENSP00000296218:E257K	ENSP00000296218:E257K	E	+	1	0	DNALI1	37800395	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.828000	0.86729	2.688000	0.91661	0.591000	0.81541	GAG		0.587	DNALI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012159.1	NM_003462		3	24	0	0	0	0	3	24				
KDM4A	9682	broad.mit.edu	37	1	44169928	44169928	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:44169928G>A	ENST00000372396.3	+	22	3216	c.3082G>A	c.(3082-3084)Gag>Aag	p.E1028K	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1028					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GCGCTTCAATGAGATTTTCAC	0.438																																						uc001cjx.2		NA																	0				skin(1)	1						c.(3082-3084)GAG>AAG		jumonji domain containing 2A							134.0	142.0	139.0					1																	44169928		2203	4300	6503	SO:0001583	missense	9682				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr1:44169928G>A	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3082G>A	1.37:g.44169928G>A	ENSP00000361473:p.Glu1028Lys					uc001cjy.2_Intron|ST3GAL3_uc009vwu.1_5'Flank|KDM4A_uc010oki.1_3'UTR	p.E1028K	NM_014663	NP_055478	O75164	KDM4A_HUMAN			22	3248	+			1028					Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	c.3082G>A	CCDS491.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610720	0.87258	.	.	ENSG00000066135	ENST00000372396	T	0.76578	-1.03	5.85	5.85	0.93711	.	0.105051	0.64402	D	0.000004	T	0.74092	0.3671	L	0.33485	1.01	0.54753	D	0.999982	D	0.53151	0.958	P	0.45276	0.475	T	0.73395	-0.3996	10	0.37606	T	0.19	-26.9708	20.1572	0.98116	0.0:0.0:1.0:0.0	.	1028	O75164	KDM4A_HUMAN	K	1028	ENSP00000361473:E1028K	ENSP00000361473:E1028K	E	+	1	0	KDM4A	43942515	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.621000	0.98376	2.762000	0.94881	0.650000	0.86243	GAG		0.438	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663		6	153	0	0	0	0	6	153				
POMGNT1	55624	broad.mit.edu	37	1	46660524	46660524	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:46660524C>T	ENST00000371984.3	-	7	801	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	POMGNT1_ENST00000535522.1_Missense_Mutation_p.R193Q|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000396420.3_Intron|POMGNT1_ENST00000485714.1_5'Flank|POMGNT1_ENST00000371992.1_Missense_Mutation_p.R215Q	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	215					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					ACCTCCTTTTCGTCCCACGAA	0.617																																						uc001cpe.2		NA																	0				ovary(1)	1						c.(643-645)CGA>CAA		O-linked mannose							107.0	123.0	118.0					1																	46660524		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46660524C>T		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.644G>A	1.37:g.46660524C>T	ENSP00000361052:p.Arg215Gln					POMGNT1_uc010olx.1_Missense_Mutation_p.R193Q|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Missense_Mutation_p.R72Q|POMGNT1_uc001cpg.2_Missense_Mutation_p.R215Q|POMGNT1_uc001cpf.2_Intron|POMGNT1_uc001cph.1_5'Flank|POMGNT1_uc001cpi.1_5'Flank	p.R215Q	NM_017739	NP_060209	Q8WZA1	PMGT1_HUMAN			7	808	-	Acute lymphoblastic leukemia(166;0.155)		215			Lumenal (Potential).		D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.644G>A	CCDS531.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146403	0.37923	.	.	ENSG00000085998	ENST00000371984;ENST00000371992;ENST00000535522;ENST00000371986	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.93	4.06	0.47325	.	0.109887	0.64402	N	0.000015	T	0.50769	0.1635	N	0.05199	-0.095	0.80722	D	1	B;B;B	0.19583	0.037;0.024;0.001	B;B;B	0.08055	0.003;0.003;0.001	T	0.41556	-0.9502	10	0.15066	T	0.55	-3.4445	5.5774	0.17231	0.0:0.6408:0.0:0.3592	.	193;215;215	F5H827;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	Q	215;215;193;215	ENSP00000361052:R215Q;ENSP00000361060:R215Q;ENSP00000443767:R193Q;ENSP00000361054:R215Q	ENSP00000361052:R215Q	R	-	2	0	POMGNT1	46433111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.715000	0.54897	1.508000	0.48769	0.561000	0.74099	CGA		0.617	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		37	223	0	0	0	0	37	223				
INADL	10207	broad.mit.edu	37	1	62235043	62235043	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:62235043G>A	ENST00000371158.2	+	5	587	c.473G>A	c.(472-474)gGa>gAa	p.G158E	INADL_ENST00000316485.6_Missense_Mutation_p.G158E	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	158	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAAAATCTCGGAAAAGTTGAT	0.433																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(472-474)GGA>GAA		InaD-like							133.0	137.0	136.0					1																	62235043		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62235043G>A	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.473G>A	1.37:g.62235043G>A	ENSP00000360200:p.Gly158Glu					INADL_uc009waf.1_Missense_Mutation_p.G158E|INADL_uc001daa.2_Missense_Mutation_p.G158E|INADL_uc001dad.3_5'Flank	p.G158E	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			5	587	+			158			PDZ 1.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.473G>A	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	15.22	2.767477	0.49574	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.39592	1.07;1.07	5.5	4.56	0.56223	PDZ/DHR/GLGF (4);	0.087422	0.45867	D	0.000322	T	0.63908	0.2551	M	0.76938	2.355	0.80722	D	1	D;D;D	0.64830	0.994;0.987;0.994	D;P;D	0.66602	0.945;0.871;0.927	T	0.66468	-0.5916	10	0.41790	T	0.15	.	16.1255	0.81392	0.0:0.1341:0.8659:0.0	.	158;158;158	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	E	158	ENSP00000360200:G158E;ENSP00000326199:G158E	ENSP00000255202:G158E	G	+	2	0	INADL	62007631	1.000000	0.71417	0.782000	0.31804	0.024000	0.10985	4.258000	0.58822	1.268000	0.44264	0.591000	0.81541	GGA		0.433	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		8	70	0	0	0	0	8	70				
DOCK7	85440	broad.mit.edu	37	1	63003606	63003606	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:63003606G>T	ENST00000340370.5	-	27	3351	c.3334C>A	c.(3334-3336)Cca>Aca	p.P1112T	DOCK7_ENST00000251157.5_Missense_Mutation_p.P1143T	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1143					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GATGCAGGTGGAGTAAGTAAG	0.393																																						uc001daq.2		NA																	0				ovary(2)	2						c.(3427-3429)CCA>ACA		dedicator of cytokinesis 7							175.0	155.0	162.0					1																	63003606		2203	4300	6503	SO:0001583	missense	85440				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding	g.chr1:63003606G>T		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.3334C>A	1.37:g.63003606G>T	ENSP00000340742:p.Pro1112Thr					DOCK7_uc001dan.2_Missense_Mutation_p.P1004T|DOCK7_uc001dao.2_Missense_Mutation_p.P1004T|DOCK7_uc001dap.2_Missense_Mutation_p.P1112T|DOCK7_uc001dam.2_Missense_Mutation_p.P323T|DOCK7_uc010oov.1_5'Flank	p.P1143T	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN			28	3461	-			1143					Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	ENST00000340370.5	37	c.3427C>A	CCDS30734.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.97|14.97	2.694736|2.694736	0.48202|0.48202	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370|ENST00000454575	T;T|.	0.45668|.	0.89;0.89|.	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65616|0.65616	0.2708|0.2708	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	P;D;D;B;B|.	0.76494|.	0.887;0.997;0.999;0.165;0.086|.	P;D;D;B;B|.	0.70487|.	0.511;0.951;0.969;0.142;0.142|.	T|T	0.60141|0.60141	-0.7321|-0.7321	10|5	0.06757|.	T|.	0.87|.	.|.	19.0168|19.0168	0.92897|0.92897	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1143;1112;1112;1112;1143|.	Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	.;.;.;.;.|.	T|Y	1143;1143;1112|314	ENSP00000251157:P1143T;ENSP00000340742:P1112T|.	ENSP00000251157:P1143T|.	P|S	-|-	1|2	0|0	DOCK7|DOCK7	62776194|62776194	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.776000|0.776000	0.43924|0.43924	9.578000|9.578000	0.98200|0.98200	2.737000|2.737000	0.93849|0.93849	0.561000|0.561000	0.74099|0.74099	CCA|TCC		0.393	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1	NM_033407		5	47	1	0	0.000602214	0.000643995	5	47				
ROR1	4919	broad.mit.edu	37	1	64643982	64643982	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:64643982C>G	ENST00000371079.1	+	9	2633	c.2258C>G	c.(2257-2259)tCa>tGa	p.S753*	ROR1_ENST00000545203.1_Nonsense_Mutation_p.S204*	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	753	Ser/Thr-rich.				peptidyl-tyrosine phosphorylation (GO:0018108)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GAGGGACTCTCAAGTCACACA	0.498																																						uc001dbj.2		NA																	0				ovary(6)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|central_nervous_system(1)|skin(1)|kidney(1)	19						c.(2257-2259)TCA>TGA		receptor tyrosine kinase-like orphan receptor 1							59.0	63.0	61.0					1																	64643982		2203	4300	6503	SO:0001587	stop_gained	4919				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr1:64643982C>G	M97675	CCDS626.1, CCDS41344.1	1p32-p31	2013-01-11			ENSG00000185483	ENSG00000185483		"""Immunoglobulin superfamily / I-set domain containing"""	10256	protein-coding gene	gene with protein product		602336		NTRKR1		1334494, 8875995	Standard	NM_001083592		Approved		uc001dbj.3	Q01973	OTTHUMG00000009022	ENST00000371079.1:c.2258C>G	1.37:g.64643982C>G	ENSP00000360120:p.Ser753*					uc001dbm.2_5'Flank	p.S753*	NM_005012	NP_005003	Q01973	ROR1_HUMAN			9	2657	+			753			Ser/Thr-rich.|Cytoplasmic (Potential).		Q5VVX6|Q66K77|Q92776	Nonsense_Mutation	SNP	ENST00000371079.1	37	c.2258C>G	CCDS626.1	.	.	.	.	.	.	.	.	.	.	C	47	12.981953	0.99711	.	.	ENSG00000185483	ENST00000371079;ENST00000544776;ENST00000545203	.	.	.	5.98	5.98	0.97165	.	0.000000	0.36519	N	0.002560	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	.	.	.	X	753;756;204	.	ENSP00000360120:S753X	S	+	2	0	ROR1	64416570	1.000000	0.71417	0.784000	0.31847	0.821000	0.46438	7.487000	0.81328	2.847000	0.97988	0.591000	0.81541	TCA		0.498	ROR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025002.1	NM_005012		5	67	0	0	0	0	5	67				
RAVER2	55225	broad.mit.edu	37	1	65278428	65278428	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:65278428C>G	ENST00000294428.3	+	10	1766	c.1688C>G	c.(1687-1689)tCt>tGt	p.S563C	RAVER2_ENST00000371072.4_Missense_Mutation_p.S550C|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	563						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TAGGCTGCCTCTAAGAATCAA	0.348																																						uc001dbs.1		NA																	0				large_intestine(1)	1						c.(1648-1650)TCT>TGT		ribonucleoprotein, PTB-binding 2							95.0	83.0	87.0					1																	65278428		1801	4073	5874	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65278428C>G	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1688C>G	1.37:g.65278428C>G	ENSP00000294428:p.Ser563Cys					RAVER2_uc001dbt.1_Missense_Mutation_p.S442C|RAVER2_uc010opb.1_Intron	p.S550C	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			10	1727	+			563					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1649C>G		.	.	.	.	.	.	.	.	.	.	C	12.98	2.099859	0.37048	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.35236	1.34;1.32	5.49	3.48	0.39840	.	0.355295	0.29260	N	0.012680	T	0.13798	0.0334	L	0.36672	1.1	0.80722	D	1	B	0.22003	0.063	B	0.22601	0.04	T	0.05115	-1.0905	10	0.48119	T	0.1	1.2574	8.3568	0.32335	0.0:0.6196:0.2998:0.0806	.	550	Q9HCJ3-2	.	C	550;563	ENSP00000360112:S550C;ENSP00000294428:S563C	ENSP00000294428:S563C	S	+	2	0	RAVER2	65051016	0.965000	0.33210	1.000000	0.80357	0.986000	0.74619	0.699000	0.25586	1.277000	0.44412	0.579000	0.79373	TCT		0.348	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		4	41	0	0	0	0	4	41				
COL11A1	1301	broad.mit.edu	37	1	103471837	103471837	+	Missense_Mutation	SNP	G	G	A	rs202011565		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:103471837G>A	ENST00000370096.3	-	16	2030	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	COL11A1_ENST00000353414.4_Missense_Mutation_p.T534M|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.T457M|COL11A1_ENST00000358392.2_Missense_Mutation_p.T585M	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	573	Collagen-like 2.|Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGTTTTCCCGTTGGACCAGG	0.348													G|||	1	0.000199681	0.0	0.0	5008	,	,		10417	0.001		0.0	False		,,,				2504	0.0					uc001dul.2		NA																	0				ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1717-1719)ACG>ATG		alpha 1 type XI collagen isoform A							50.0	57.0	54.0					1																	103471837		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103471837G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1718C>T	1.37:g.103471837G>A	ENSP00000359114:p.Thr573Met					COL11A1_uc001duk.2_Translation_Start_Site|COL11A1_uc001dum.2_Missense_Mutation_p.T585M|COL11A1_uc001dun.2_Missense_Mutation_p.T534M|COL11A1_uc009weh.2_Missense_Mutation_p.T457M	p.T573M	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	16	2036	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	573			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1718C>T	CCDS778.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.04	1.520586	0.27211	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.94758	-3.51;-3.51;-3.51;-3.22	5.31	3.45	0.39498	.	0.356446	0.29218	N	0.012800	D	0.82884	0.5134	L	0.39566	1.225	0.09310	N	1	B;B;B;B	0.16603	0.006;0.014;0.014;0.018	B;B;B;B	0.14578	0.011;0.006;0.006;0.011	T	0.76285	-0.3015	10	0.62326	D	0.03	.	6.2843	0.21025	0.2264:0.1433:0.6304:0.0	.	457;534;585;573	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	M	573;585;534;457	ENSP00000359114:T573M;ENSP00000351163:T585M;ENSP00000302551:T534M;ENSP00000426533:T457M	ENSP00000302551:T534M	T	-	2	0	COL11A1	103244425	0.974000	0.33945	0.195000	0.23364	0.881000	0.50899	2.528000	0.45624	0.632000	0.30432	0.563000	0.77884	ACG		0.348	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	63	0	0	0	0	11	63				
NOTCH2	4853	broad.mit.edu	37	1	120480557	120480557	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120480557C>T	ENST00000256646.2	-	20	3479	c.3260G>A	c.(3259-3261)tGc>tAc	p.C1087Y		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1087	EGF-like 28. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGGACATAGGCACTGGGACTC	0.517			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(3259-3261)TGC>TAC		notch 2 preproprotein							143.0	128.0	133.0					1																	120480557		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120480557C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3260G>A	1.37:g.120480557C>T	ENSP00000256646:p.Cys1087Tyr					NOTCH2_uc001eil.2_Missense_Mutation_p.C1087Y	p.C1087Y	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	20	3516	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1087			EGF-like 28.|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.3260G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319552	0.60524	.	.	ENSG00000134250	ENST00000256646	D	0.99992	-12.4	5.73	5.73	0.89815	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.41194	U	0.000928	D	0.99994	0.9999	H	0.97806	4.08	0.80722	D	1	D;D	0.76494	0.999;0.964	D;P	0.91635	0.999;0.832	D	0.99993	1.4749	10	0.87932	D	0	.	18.881	0.92356	0.0:1.0:0.0:0.0	.	1087;1087	Q6IQ50;Q04721	.;NOTC2_HUMAN	Y	1087	ENSP00000256646:C1087Y	ENSP00000256646:C1087Y	C	-	2	0	NOTCH2	120282080	1.000000	0.71417	0.979000	0.43373	0.042000	0.13812	7.312000	0.78968	2.713000	0.92767	0.591000	0.81541	TGC		0.517	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	47	0	0	0	0	10	47				
NOTCH2	4853	broad.mit.edu	37	1	120548096	120548096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:120548096G>A	ENST00000256646.2	-	3	490	c.271C>T	c.(271-273)Cga>Tga	p.R91*	NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.R52*	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	91	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGCACATCGGCACGTGGCT	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NA		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(271-273)CGA>TGA		notch 2 preproprotein							121.0	90.0	100.0					1																	120548096		2203	4299	6502	SO:0001587	stop_gained	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120548096G>A	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.271C>T	1.37:g.120548096G>A	ENSP00000256646:p.Arg91*					NOTCH2_uc001eil.2_Nonsense_Mutation_p.R91*|NOTCH2_uc001eim.3_Nonsense_Mutation_p.R8*	p.R91*	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	527	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	91			Extracellular (Potential).|EGF-like 2.		Q5T3X7|Q99734|Q9H240	Nonsense_Mutation	SNP	ENST00000256646.2	37	c.271C>T	CCDS908.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213725	0.95069	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	.	.	.	5.4	4.46	0.54185	.	0.000000	0.32488	U	0.006035	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	.	11.3094	0.49356	0.0:0.0:0.6484:0.3516	.	.	.	.	X	91;52;64;52	.	ENSP00000256646:R91X	R	-	1	2	NOTCH2	120349619	0.856000	0.29760	0.906000	0.35671	0.994000	0.84299	1.179000	0.31993	1.201000	0.43203	0.586000	0.80456	CGA		0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		10	112	0	0	0	0	10	112				
RPS27	6232	broad.mit.edu	37	1	153964115	153964115	+	Silent	SNP	C	C	G	rs549879404		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:153964115C>G	ENST00000368567.4	+	3	227	c.189C>G	c.(187-189)ctC>ctG	p.L63L	RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	63					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACTGTCCTCTGCCAGCCTA	0.398																																						uc001fdv.2		NA																	0					0						c.(187-189)CTC>CTG		ribosomal protein S27							65.0	67.0	66.0					1																	153964115		2203	4299	6502	SO:0001819	synonymous_variant	6232				cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding	g.chr1:153964115C>G	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.189C>G	1.37:g.153964115C>G							p.L63L	NM_001030	NP_001021	P42677	RS27_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		3	223	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		63					Q5T4L6	Silent	SNP	ENST00000368567.4	37	c.189C>G	CCDS1059.1																																																																																				0.398	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030		5	51	0	0	0	0	5	51				
CRABP2	1382	broad.mit.edu	37	1	156670736	156670736	+	Missense_Mutation	SNP	C	C	T	rs548565052		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:156670736C>T	ENST00000368222.3	-	2	333	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CRABP2_ENST00000368221.1_Missense_Mutation_p.R60H	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	60					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)	p.R60H(2)		endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	CTCTGTGGTGCGCACGGTGGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19065	0.001		0.0	False		,,,				2504	0.0					uc001fpr.2		NA																	2	Substitution - Missense(2)	p.R60C(1)	endometrium(2)	upper_aerodigestive_tract(1)	1						c.(178-180)CGC>CAC		cellular retinoic acid binding protein 2	Alitretinoin(DB00523)						141.0	120.0	127.0					1																	156670736		2203	4300	6503	SO:0001583	missense	1382				epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity	g.chr1:156670736C>T	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.179G>A	1.37:g.156670736C>T	ENSP00000357205:p.Arg60His						p.R60H	NM_001878	NP_001869	P29373	RABP2_HUMAN			2	316	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		60					B2R4Z8|D3DVC5|F1T098|Q6ICN6	Missense_Mutation	SNP	ENST00000368222.3	37	c.179G>A	CCDS1152.1	.	.	.	.	.	.	.	.	.	.	C	32	5.125576	0.94429	.	.	ENSG00000143320	ENST00000368222;ENST00000368221;ENST00000368220	T;T;T	0.08634	3.07;3.07;3.07	4.86	4.86	0.63082	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	M	0.84219	2.685	0.80722	D	1	D	0.69078	0.997	P	0.61275	0.886	T	0.01185	-1.1425	10	0.87932	D	0	.	15.5398	0.76035	0.0:1.0:0.0:0.0	.	60	P29373	RABP2_HUMAN	H	60	ENSP00000357205:R60H;ENSP00000357204:R60H;ENSP00000357203:R60H	ENSP00000357203:R60H	R	-	2	0	CRABP2	154937360	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.265000	0.78442	2.530000	0.85305	0.655000	0.94253	CGC		0.552	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098966.1	NM_001878		4	96	0	0	0	0	4	96				
CNTN2	6900	broad.mit.edu	37	1	205039123	205039123	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:205039123C>T	ENST00000331830.4	+	18	2649	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	789	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|central nervous system myelination (GO:0022010)|cerebral cortex GABAergic interneuron migration (GO:0021853)|clustering of voltage-gated potassium channels (GO:0045163)|establishment of protein localization to juxtaparanode region of axon (GO:0071206)|learning (GO:0007612)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|positive regulation of protein processing (GO:0010954)|presynaptic membrane organization (GO:0097090)|receptor internalization (GO:0031623)|regulation of astrocyte differentiation (GO:0048710)|regulation of axon diameter (GO:0031133)|regulation of neuronal synaptic plasticity (GO:0048168)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|juxtaparanode region of axon (GO:0044224)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated potassium channel complex (GO:0008076)	carbohydrate binding (GO:0030246)|identical protein binding (GO:0042802)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTCAAGATCCGCAGCTACAA	0.662																																					Melanoma(183;2548 2817 37099 41192)	uc001hbr.2		NA																	0				ovary(1)	1						c.(2365-2367)CGC>TGC		contactin 2 precursor							38.0	44.0	42.0					1																	205039123		2203	4300	6503	SO:0001583	missense	6900				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding	g.chr1:205039123C>T	X67734	CCDS1449.1	1q32.1	2013-02-11			ENSG00000184144	ENSG00000184144		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2172	protein-coding gene	gene with protein product		190197		TAX, AXT		8307567, 8586965	Standard	NM_005076		Approved	TAG-1, TAX1	uc001hbr.3	Q02246	OTTHUMG00000037105	ENST00000331830.4:c.2365C>T	1.37:g.205039123C>T	ENSP00000330633:p.Arg789Cys					CNTN2_uc001hbq.1_Missense_Mutation_p.R680C|CNTN2_uc001hbs.2_Missense_Mutation_p.R577C	p.R789C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		18	2634	+	all_cancers(21;0.144)|Breast(84;0.0437)		789			Fibronectin type-III 2.		P78432|Q5T054	Missense_Mutation	SNP	ENST00000331830.4	37	c.2365C>T	CCDS1449.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794376	0.70452	.	.	ENSG00000184144	ENST00000331830	T	0.58940	0.3	5.07	5.07	0.68467	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.149974	0.30260	N	0.010024	T	0.70272	0.3205	L	0.59436	1.845	0.51767	D	0.999936	D;D	0.89917	1.0;1.0	D;D	0.67725	0.953;0.953	T	0.72928	-0.4143	10	0.72032	D	0.01	.	13.1124	0.59281	0.2031:0.7969:0.0:0.0	.	789;680	Q02246;Q68DA2	CNTN2_HUMAN;.	C	789	ENSP00000330633:R789C	ENSP00000330633:R789C	R	+	1	0	CNTN2	203305746	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.251000	0.43187	2.356000	0.79943	0.467000	0.42956	CGC		0.662	CNTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090080.3	NM_005076		9	71	0	0	0	0	9	71				
ESRRG	2104	broad.mit.edu	37	1	216680464	216680464	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:216680464C>A	ENST00000408911.3	-	7	1347	c.1194G>T	c.(1192-1194)gcG>gcT	p.A398A	ESRRG_ENST00000366937.1_Silent_p.A410A|ESRRG_ENST00000359162.2_Silent_p.A375A|ESRRG_ENST00000487276.1_Silent_p.A375A|ESRRG_ENST00000493603.1_Silent_p.A375A|ESRRG_ENST00000360012.3_Silent_p.A375A|ESRRG_ENST00000391890.3_Silent_p.A382A|ESRRG_ENST00000493748.1_Silent_p.A375A|ESRRG_ENST00000366940.2_Silent_p.A375A|ESRRG_ENST00000361395.2_Silent_p.A375A|ESRRG_ENST00000366938.2_Silent_p.A375A|ESRRG_ENST00000361525.3_Silent_p.A375A|ESRRG_ENST00000463665.1_Silent_p.A336A	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	398					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	AATCCTGCAGCGCTTCATGTA	0.478																																						uc001hkw.1		NA																	0				ovary(1)|kidney(1)	2						c.(1192-1194)GCG>GCT		estrogen-related receptor gamma isoform 1	Diethylstilbestrol(DB00255)						109.0	98.0	102.0					1																	216680464		2203	4300	6503	SO:0001819	synonymous_variant	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216680464C>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.1194G>T	1.37:g.216680464C>A						ESRRG_uc001hky.1_Silent_p.A375A|ESRRG_uc009xdp.1_Silent_p.A375A|ESRRG_uc001hkz.1_Silent_p.A336A|ESRRG_uc010puc.1_Silent_p.A375A|ESRRG_uc001hla.1_Silent_p.A375A|ESRRG_uc001hlb.1_Silent_p.A375A|ESRRG_uc010pud.1_Silent_p.A206A|ESRRG_uc001hlc.1_Silent_p.A375A|ESRRG_uc001hld.1_Silent_p.A375A|ESRRG_uc001hkx.1_Silent_p.A410A|ESRRG_uc009xdo.1_Silent_p.A375A	p.A398A	NM_001438	NP_001429	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1360	-			398					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Silent	SNP	ENST00000408911.3	37	c.1194G>T	CCDS41468.1																																																																																				0.478	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	NM_206595		11	63	1	0	2.27e-07	2.48e-07	11	63				
CDC42BPA	8476	broad.mit.edu	37	1	227300480	227300480	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:227300480C>T	ENST00000366769.3	-	13	3073	c.1782G>A	c.(1780-1782)caG>caA	p.Q594Q	CDC42BPA_ENST00000535525.1_Silent_p.Q594Q|CDC42BPA_ENST00000366765.3_Silent_p.Q594Q|CDC42BPA_ENST00000334218.5_Silent_p.Q594Q|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000366764.2_Silent_p.Q594Q|CDC42BPA_ENST00000366766.2_Silent_p.Q594Q	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGCAAGTTTCTGTTTTTGGG	0.468																																						uc001hqr.2		NA																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(1780-1782)CAG>CAA		CDC42-binding protein kinase alpha isoform B							261.0	248.0	252.0					1																	227300480		2203	4300	6503	SO:0001819	synonymous_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227300480C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.1782G>A	1.37:g.227300480C>T						CDC42BPA_uc001hqs.2_Intron|CDC42BPA_uc009xes.2_Silent_p.Q594Q|CDC42BPA_uc010pvs.1_Silent_p.Q594Q	p.Q594Q	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			13	2725	-		all_cancers(173;0.156)|Prostate(94;0.0792)	594			Potential.			Silent	SNP	ENST00000366769.3	37	c.1782G>A	CCDS1558.1																																																																																				0.468	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		16	210	0	0	0	0	16	210				
DISC1	27185	broad.mit.edu	37	1	231830190	231830190	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:231830190G>A	ENST00000602281.1	+	2	739	c.686G>A	c.(685-687)tGc>tAc	p.C229Y	TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.C229Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366633.3_Missense_Mutation_p.C229Y|DISC1_ENST00000439617.2_Missense_Mutation_p.C229Y|DISC1_ENST00000539444.1_Missense_Mutation_p.C229Y|DISC1_ENST00000537876.1_Missense_Mutation_p.C229Y|DISC1_ENST00000535983.1_Missense_Mutation_p.C229Y|DISC1_ENST00000317586.4_Missense_Mutation_p.C229Y|DISC1_ENST00000366637.3_5'UTR	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	229	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GCAGAAGGCTGCCCACCATCC	0.617																																						uc001huz.2		NA																	0				skin(1)	1						c.(685-687)TGC>TAC		disrupted in schizophrenia 1 isoform L							44.0	46.0	45.0					1																	231830190		2203	4300	6503	SO:0001583	missense	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231830190G>A	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.686G>A	1.37:g.231830190G>A	ENSP00000473425:p.Cys229Tyr					TSNAX-DISC1_uc010pwe.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwf.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwg.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwh.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwi.1_Missense_Mutation_p.C184Y|TSNAX-DISC1_uc010pwj.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwk.1_Missense_Mutation_p.C218Y|TSNAX-DISC1_uc010pwl.1_RNA|DISC1_uc010pwo.1_Missense_Mutation_p.C229Y|DISC1_uc010pwp.1_Missense_Mutation_p.C229Y|DISC1_uc010pwq.1_Missense_Mutation_p.C229Y|DISC1_uc010pwr.1_Missense_Mutation_p.C229Y|DISC1_uc010pws.1_Missense_Mutation_p.C229Y|DISC1_uc010pwt.1_Missense_Mutation_p.C229Y|DISC1_uc010pwu.1_Intron|DISC1_uc010pwv.1_RNA|DISC1_uc010pww.1_Missense_Mutation_p.C229Y|DISC1_uc010pwx.1_RNA|DISC1_uc010pwy.1_RNA|DISC1_uc010pwz.1_RNA|DISC1_uc010pxa.1_RNA|DISC1_uc001huy.2_Missense_Mutation_p.C229Y|DISC1_uc010pxb.1_Missense_Mutation_p.C229Y|DISC1_uc010pxc.1_Missense_Mutation_p.C229Y|DISC1_uc010pxd.1_5'UTR|DISC1_uc010pxe.1_Missense_Mutation_p.C229Y|DISC1_uc009xfr.2_Missense_Mutation_p.C184Y|DISC1_uc010pxf.1_Missense_Mutation_p.C229Y|DISC1_uc010pxg.1_Missense_Mutation_p.C229Y|DISC1_uc010pxh.1_Missense_Mutation_p.C229Y|DISC1_uc010pxi.1_RNA|DISC1_uc010pxj.1_5'UTR|DISC1_uc010pxk.1_RNA|DISC1_uc010pxl.1_RNA|DISC1_uc010pxm.1_Missense_Mutation_p.C229Y|DISC1_uc010pxn.1_5'UTR|DISC1_uc001hva.2_Missense_Mutation_p.C229Y|DISC1_uc010pwm.1_Missense_Mutation_p.C229Y|DISC1_uc001hux.1_Missense_Mutation_p.C229Y|DISC1_uc001hvc.3_Missense_Mutation_p.C229Y|DISC1_uc010pwn.1_Missense_Mutation_p.C229Y	p.C229Y	NM_018662	NP_061132	Q9NRI5	DISC1_HUMAN			2	739	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	229			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	ENST00000602281.1	37	c.686G>A	CCDS59205.1	.	.	.	.	.	.	.	.	.	.	G	13.12	2.143568	0.37825	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000317586;ENST00000366636;ENST00000366638;ENST00000532576;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944;ENST00000366632	T;T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	4.51	3.59	0.41128	.	0.346948	0.33553	N	0.004797	T	0.41858	0.1177	L	0.58101	1.795	0.29860	N	0.827696	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;P	0.89917	0.844;0.996;0.996;1.0;0.996;0.996;0.996;0.996;0.996;0.996;0.999;1.0;1.0;0.996;0.986;0.992;1.0;0.986;0.992;0.996;0.844	P;P;P;D;P;D;P;P;P;P;D;D;D;P;P;P;D;P;P;P;P	0.91635	0.46;0.904;0.904;0.999;0.904;0.93;0.904;0.904;0.904;0.904;0.997;0.999;0.999;0.904;0.862;0.904;0.999;0.862;0.904;0.904;0.728	T	0.34527	-0.9825	10	0.87932	D	0	-5.5619	6.7715	0.23596	0.2094:0.0:0.7906:0.0	.	229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229;229	C4P094;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P091;C4P0D2;C4P0D3;C4P0B1;A7E2W8;Q5T409;C4P0D0;Q9NRI5-2;Q9NRI5;Q9NRI5-3;Q9NRI5-4	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.;.	Y	229;229;229;229;229;229;229;229;229;229;229;229;80	ENSP00000403888:C229Y;ENSP00000320784:C229Y;ENSP00000355596:C229Y;ENSP00000443996:C229Y;ENSP00000440909:C229Y;ENSP00000355593:C229Y;ENSP00000440953:C229Y;ENSP00000295051:C229Y;ENSP00000441193:C229Y	ENSP00000295051:C229Y	C	+	2	0	DISC1	229896813	0.921000	0.31238	0.967000	0.41034	0.395000	0.30598	1.819000	0.39022	1.083000	0.41159	0.561000	0.74099	TGC		0.617	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	NM_018662		9	58	0	0	0	0	9	58				
KIF26B	55083	broad.mit.edu	37	1	245850124	245850124	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr1:245850124C>T	ENST00000407071.2	+	12	4279	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	KIF26B_ENST00000366518.4_Missense_Mutation_p.S899F	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1280					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.S1280C(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCATCAGCTCCTGGCTGAGC	0.612																																						uc001ibf.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(3838-3840)TCC>TTC		kinesin family member 26B							34.0	41.0	38.0					1																	245850124		2140	4231	6371	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245850124C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3839C>T	1.37:g.245850124C>T	ENSP00000385545:p.Ser1280Phe					KIF26B_uc001ibg.1_Missense_Mutation_p.S898F|KIF26B_uc001ibh.1_Missense_Mutation_p.S522F	p.S1280F	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		12	4279	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1280					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.3839C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428700	0.62844	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.87809	-2.3;-2.29	5.92	5.02	0.67125	.	.	.	.	.	D	0.88396	0.6425	M	0.83012	2.62	0.80722	D	1	P;P	0.47106	0.89;0.89	B;B	0.41332	0.354;0.197	D	0.89959	0.4085	9	0.87932	D	0	.	15.0625	0.71967	0.0:0.9322:0.0:0.0678	.	899;1280	B7WPD9;Q2KJY2	.;KI26B_HUMAN	F	1280;899;896	ENSP00000385545:S1280F;ENSP00000355475:S899F	ENSP00000355475:S899F	S	+	2	0	KIF26B	243916747	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.807000	0.86032	1.525000	0.49052	0.561000	0.74099	TCC		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	36	0	0	0	0	4	36				
GTPBP4	23560	broad.mit.edu	37	10	1061734	1061734	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:1061734T>C	ENST00000360803.4	+	16	1732	c.1650T>C	c.(1648-1650)acT>acC	p.T550T	GTPBP4_ENST00000545048.1_Silent_p.T503T|GTPBP4_ENST00000538293.1_Silent_p.T434T	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	550					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		GGAGCATCACTAGGAAAAGAA	0.587																																						uc001ift.2		NA																	0				ovary(1)|skin(1)	2						c.(1648-1650)ACT>ACC		G protein-binding protein CRFG							108.0	98.0	101.0					10																	1061734		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1061734T>C	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1650T>C	10.37:g.1061734T>C						GTPBP4_uc001ifu.2_RNA|GTPBP4_uc010qad.1_Silent_p.T434T|GTPBP4_uc010qae.1_Silent_p.T503T	p.T550T	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	16	1721	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	550					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.1650T>C	CCDS31132.1																																																																																				0.587	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		10	93	0	0	0	0	10	93				
USP6NL	9712	broad.mit.edu	37	10	11567452	11567452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:11567452C>T	ENST00000609104.1	-	4	482	c.88G>A	c.(88-90)Gag>Aag	p.E30K	USP6NL_ENST00000379237.2_Missense_Mutation_p.E53K|USP6NL_ENST00000277575.5_Missense_Mutation_p.E47K	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	30					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGTTCAATCTCTGCACCTTCT	0.328																																						uc001ikt.3		NA																	0					0						c.(88-90)GAG>AAG		USP6 N-terminal like isoform 1							120.0	112.0	114.0					10																	11567452		1836	4092	5928	SO:0001583	missense	9712					intracellular	Rab GTPase activator activity	g.chr10:11567452C>T	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.88G>A	10.37:g.11567452C>T	ENSP00000476462:p.Glu30Lys					USP6NL_uc001iks.1_Missense_Mutation_p.E47K	p.E30K	NM_014688	NP_055503	Q92738	US6NL_HUMAN			4	409	-			30					A8KA79|Q15400|Q5VV10|Q7L0K9	Missense_Mutation	SNP	ENST00000609104.1	37	c.88G>A	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377609	0.42105	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	T;T	0.26660	1.72;1.72	5.71	4.75	0.60458	.	0.462750	0.25178	N	0.032542	T	0.13157	0.0319	N	0.11789	0.175	0.43368	D	0.995456	B;B	0.16166	0.009;0.016	B;B	0.18561	0.016;0.022	T	0.12941	-1.0528	10	0.22706	T	0.39	.	8.6012	0.33745	0.0:0.6747:0.2417:0.0835	.	30;47	Q92738;Q92738-2	US6NL_HUMAN;.	K	30;47;30	ENSP00000277575:E47K;ENSP00000368539:E30K	ENSP00000277575:E47K	E	-	1	0	USP6NL	11607458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.423000	0.44705	2.861000	0.98227	0.650000	0.86243	GAG		0.328	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		9	67	0	0	0	0	9	67				
CUBN	8029	broad.mit.edu	37	10	16994286	16994286	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:16994286G>A	ENST00000377833.4	-	33	5023	c.4958C>T	c.(4957-4959)gCg>gTg	p.A1653V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1653	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGAGGTTGCGCTTGAATGAT	0.458																																						uc001ioo.2		NA																	0				ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4957-4959)GCG>GTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						213.0	197.0	202.0					10																	16994286		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:16994286G>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4958C>T	10.37:g.16994286G>A	ENSP00000367064:p.Ala1653Val						p.A1653V	NM_001081	NP_001072	O60494	CUBN_HUMAN			33	5010	-			1653			CUB 11.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4958C>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354333	0.82243	.	.	ENSG00000107611	ENST00000377833	T	0.34275	1.37	5.75	5.75	0.90469	CUB (5);	0.165436	0.28425	N	0.015381	T	0.50905	0.1643	L	0.33792	1.035	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.33471	-0.9867	10	0.32370	T	0.25	.	19.9405	0.97159	0.0:0.0:1.0:0.0	.	1653	O60494	CUBN_HUMAN	V	1653	ENSP00000367064:A1653V	ENSP00000367064:A1653V	A	-	2	0	CUBN	17034292	1.000000	0.71417	0.988000	0.46212	0.409000	0.31022	8.583000	0.90794	2.708000	0.92522	0.655000	0.94253	GCG		0.458	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		10	91	0	0	0	0	10	91				
BMI1	648	broad.mit.edu	37	10	22618452	22618452	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:22618452C>T	ENST00000376663.3	+	10	1467	c.962C>T	c.(961-963)tCa>tTa	p.S321L	RP11-573G6.9_ENST00000606988.1_lincRNA|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S464L	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	321	Pro/Ser-rich.				chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						AATGGGTCATCAGCAACTTCT	0.393																																						uc001irh.2		NA																	0				ovary(1)|skin(1)	2						c.(961-963)TCA>TTA		BMI1 polycomb ring finger oncogene							103.0	100.0	101.0					10																	22618452		2203	4300	6503	SO:0001583	missense	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22618452C>T	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.962C>T	10.37:g.22618452C>T	ENSP00000365851:p.Ser321Leu					BMI1_uc009xkg.2_Missense_Mutation_p.S464L	p.S321L	NM_005180	NP_005171	P35226	BMI1_HUMAN			10	1601	+			321			Pro/Ser-rich.		Q16030|Q5T8Z3|Q96F37	Missense_Mutation	SNP	ENST00000376663.3	37	c.962C>T	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.914455	0.52546	.	.	ENSG00000168283	ENST00000376691;ENST00000376663	T	0.35236	1.32	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	L	0.27053	0.805	0.58432	D	0.999997	D;P	0.57899	0.981;0.909	D;P	0.67231	0.95;0.587	T	0.50693	-0.8798	10	0.72032	D	0.01	-6.2601	19.1861	0.93644	0.0:1.0:0.0:0.0	.	321;321	Q5U0M5;P35226	.;BMI1_HUMAN	L	233;321	ENSP00000365851:S321L	ENSP00000365851:S321L	S	+	2	0	BMI1	22658458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.359000	0.66074	2.638000	0.89438	0.650000	0.86243	TCA		0.393	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180		8	79	0	0	0	0	8	79				
KIF5B	3799	broad.mit.edu	37	10	32329358	32329359	+	Nonsense_Mutation	DNP	AT	AT	TA			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329358_32329359AT>TA	ENST00000302418.4	-	3	698_699	c.241_242AT>TA	c.(241-243)ATa>TAa	p.I81*		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)				ATATGCAAATATTGTTCCATTA	0.332			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>TAA		kinesin family member 5B																																				SO:0001587	stop_gained	3799				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity	g.chr10:32329358_32329359AT>TA	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.241_242delinsTA	10.37:g.32329358_32329359delinsTA	ENSP00000307078:p.Ile81*						p.I81*	NM_004521	NP_004512	P33176	KINH_HUMAN			3	711_712	-		Prostate(175;0.0137)	81			Kinesin-motor.		A0AVB2|Q5VZ85	Nonsense_Mutation	DNP	ENST00000302418.4	37	c.241_242AT>TA	CCDS7171.1																																																																																				0.332	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		5	34	0	0	0	0	5	34				
KIF5B	3799	broad.mit.edu	37	10	32329361	32329361	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:32329361G>A	ENST00000302418.4	-	3	696	c.239C>T	c.(238-240)aCa>aTa	p.T80I		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	80	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)				TGCAAATATTGTTCCATTATA	0.333			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.(238-240)ACA>ATA		kinesin family member 5B							201.0	183.0	189.0					10																	32329361		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.chr10:32329361G>A	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.239C>T	10.37:g.32329361G>A	ENSP00000307078:p.Thr80Ile						p.T80I	NM_004521	NP_004512	P33176	KINH_HUMAN			3	709	-		Prostate(175;0.0137)	80			Kinesin-motor.		A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	c.239C>T	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153025	0.94645	.	.	ENSG00000170759	ENST00000302418	T	0.78246	-1.16	5.8	5.8	0.92144	Kinesin, motor domain (5);	0.000000	0.85682	D	0.000000	D	0.93716	0.7992	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95708	0.8755	10	0.87932	D	0	.	20.1011	0.97876	0.0:0.0:1.0:0.0	.	80	P33176	KINH_HUMAN	I	80	ENSP00000307078:T80I	ENSP00000307078:T80I	T	-	2	0	KIF5B	32369367	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.886000	0.87288	2.754000	0.94517	0.650000	0.86243	ACA		0.333	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521		4	34	0	0	0	0	4	34				
RBP3	5949	broad.mit.edu	37	10	48387946	48387946	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48387946C>G	ENST00000224600.4	-	1	3045	c.2932G>C	c.(2932-2934)Gaa>Caa	p.E978Q	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	978	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGGCCACTTCTGAGGTCACC	0.617																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(2932-2934)GAA>CAA		retinol-binding protein 3 precursor	Vitamin A(DB00162)						84.0	84.0	84.0					10																	48387946		2203	4300	6503	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48387946C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2932G>C	10.37:g.48387946C>G	ENSP00000224600:p.Glu978Gln						p.E978Q	NM_002900	NP_002891	P10745	RET3_HUMAN			1	3046	-			978			4 X approximate tandem repeats.|4.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.2932G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	9.772	1.172975	0.21704	.	.	ENSG00000107618	ENST00000224600	T	0.65549	-0.16	5.56	5.56	0.83823	.	0.143686	0.64402	D	0.000008	T	0.78904	0.4357	M	0.82823	2.61	0.40685	D	0.982346	D	0.69078	0.997	P	0.58520	0.84	T	0.82530	-0.0411	10	0.72032	D	0.01	-18.813	18.5233	0.90962	0.0:1.0:0.0:0.0	.	978	P10745	RET3_HUMAN	Q	978	ENSP00000224600:E978Q	ENSP00000224600:E978Q	E	-	1	0	RBP3	48007952	0.998000	0.40836	0.550000	0.28217	0.089000	0.18198	3.989000	0.56958	2.640000	0.89533	0.655000	0.94253	GAA		0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		6	91	0	0	0	0	6	91				
RBP3	5949	broad.mit.edu	37	10	48388901	48388901	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48388901C>G	ENST00000224600.4	-	1	2090	c.1977G>C	c.(1975-1977)caG>caC	p.Q659H	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	659	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGCACTGGTCTGCCCCACGA	0.672																																						uc001jez.2		NA																	0				large_intestine(1)|central_nervous_system(1)	2						c.(1975-1977)CAG>CAC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						19.0	21.0	20.0					10																	48388901		2202	4292	6494	SO:0001583	missense	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48388901C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1977G>C	10.37:g.48388901C>G	ENSP00000224600:p.Gln659His						p.Q659H	NM_002900	NP_002891	P10745	RET3_HUMAN			1	2091	-			659			4 X approximate tandem repeats.|3.		Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	ENST00000224600.4	37	c.1977G>C	CCDS7218.1	.	.	.	.	.	.	.	.	.	.	C	3.188	-0.166348	0.06461	.	.	ENSG00000107618	ENST00000224600	T	0.42513	0.97	5.53	3.64	0.41730	.	0.351936	0.27270	N	0.020138	T	0.27419	0.0673	L	0.27053	0.805	0.24184	N	0.995571	B	0.06786	0.001	B	0.06405	0.002	T	0.18935	-1.0321	10	0.54805	T	0.06	-17.365	6.6942	0.23189	0.0:0.6985:0.1475:0.1539	.	659	P10745	RET3_HUMAN	H	659	ENSP00000224600:Q659H	ENSP00000224600:Q659H	Q	-	3	2	RBP3	48008907	1.000000	0.71417	0.035000	0.18076	0.005000	0.04900	1.096000	0.30976	0.690000	0.31570	0.561000	0.74099	CAG		0.672	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		4	37	0	0	0	0	4	37				
GDF2	2658	broad.mit.edu	37	10	48414224	48414224	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:48414224A>G	ENST00000249598.1	-	2	803	c.644T>C	c.(643-645)gTc>gCc	p.V215A		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	215					activin receptor signaling pathway (GO:0032924)|angiogenesis (GO:0001525)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to BMP stimulus (GO:0071773)|growth (GO:0040007)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of DNA replication (GO:0008156)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|osteoblast differentiation (GO:0001649)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|positive regulation of angiogenesis (GO:0045766)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTCGGACCGGACCCAGCGCTT	0.587																																						uc001jfa.1		NA																	0				ovary(2)|skin(1)	3						c.(643-645)GTC>GCC		growth differentiation factor 2 precursor							71.0	73.0	72.0					10																	48414224		2203	4300	6503	SO:0001583	missense	2658				activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr10:48414224A>G	AF156891	CCDS73118.1	10q11.22	2014-05-06			ENSG00000128802	ENSG00000263761		"""Endogenous ligands"""	4217	protein-coding gene	gene with protein product		605120				10849432	Standard	NM_016204		Approved	BMP-9, BMP9	uc001jfa.1	Q9UK05	OTTHUMG00000188320	ENST00000249598.1:c.644T>C	10.37:g.48414224A>G	ENSP00000249598:p.Val215Ala						p.V215A	NM_016204	NP_057288	Q9UK05	GDF2_HUMAN			2	807	-			215					Q5VSQ9|Q9Y571	Missense_Mutation	SNP	ENST00000249598.1	37	c.644T>C	CCDS7219.1	.	.	.	.	.	.	.	.	.	.	A	6.670	0.492217	0.12702	.	.	ENSG00000128802	ENST00000249598	T	0.66995	-0.24	5.59	3.25	0.37280	Transforming growth factor-beta, N-terminal (1);	0.572507	0.20272	N	0.095622	T	0.60560	0.2278	M	0.70595	2.14	0.29623	N	0.846064	B	0.11235	0.004	B	0.16289	0.015	T	0.52518	-0.8565	10	0.15066	T	0.55	.	9.2502	0.37551	0.8525:0.0:0.1475:0.0	.	215	Q9UK05	GDF2_HUMAN	A	215	ENSP00000249598:V215A	ENSP00000249598:V215A	V	-	2	0	GDF2	48034230	0.627000	0.27129	0.997000	0.53966	0.312000	0.27988	2.532000	0.45659	0.408000	0.25621	0.482000	0.46254	GTC		0.587	GDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047891.1	NM_016204		9	103	0	0	0	0	9	103				
OGDHL	55753	broad.mit.edu	37	10	50952758	50952758	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:50952758T>C	ENST00000374103.4	-	13	1755	c.1670A>G	c.(1669-1671)tAt>tGt	p.Y557C	OGDHL_ENST00000419399.1_Missense_Mutation_p.Y500C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y348C	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	557					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGACCTGCCATAAGCCTCCTC	0.547																																						uc001jie.2		NA																	0				pancreas(1)	1						c.(1669-1671)TAT>TGT		oxoglutarate dehydrogenase-like isoform a							129.0	123.0	125.0					10																	50952758		2203	4300	6503	SO:0001583	missense	55753				glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:50952758T>C	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.1670A>G	10.37:g.50952758T>C	ENSP00000363216:p.Tyr557Cys					OGDHL_uc009xog.2_Missense_Mutation_p.Y584C|OGDHL_uc010qgt.1_Missense_Mutation_p.Y500C|OGDHL_uc010qgu.1_Missense_Mutation_p.Y348C|OGDHL_uc009xoh.2_Missense_Mutation_p.Y348C	p.Y557C	NM_018245	NP_060715	Q9ULD0	OGDHL_HUMAN			13	1812	-			557					A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Missense_Mutation	SNP	ENST00000374103.4	37	c.1670A>G	CCDS7234.1	.	.	.	.	.	.	.	.	.	.	T	19.38	3.817176	0.70912	.	.	ENSG00000197444	ENST00000374103;ENST00000419399;ENST00000432695	D;D;D	0.95949	-3.86;-3.86;-3.86	5.6	3.22	0.36961	Dehydrogenase, E1 component (1);	0.061322	0.64402	D	0.000002	D	0.97614	0.9218	M	0.91920	3.255	0.58432	D	0.999999	D;D;D	0.62365	0.989;0.991;0.968	D;P;P	0.63703	0.917;0.882;0.886	D	0.97243	0.9892	10	0.87932	D	0	.	11.3491	0.49577	0.2416:0.0:0.0:0.7584	.	500;348;557	Q9ULD0-2;Q9ULD0-3;Q9ULD0	.;.;OGDHL_HUMAN	C	557;500;348	ENSP00000363216:Y557C;ENSP00000401356:Y500C;ENSP00000390240:Y348C	ENSP00000363216:Y557C	Y	-	2	0	OGDHL	50622764	1.000000	0.71417	0.188000	0.23233	0.988000	0.76386	2.709000	0.47160	0.470000	0.27294	0.528000	0.53228	TAT		0.547	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	NM_018245		6	56	0	0	0	0	6	56				
BLOC1S2	282991	broad.mit.edu	37	10	102039977	102039977	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:102039977G>A	ENST00000370372.2	-	4	353	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	BLOC1S2_ENST00000361832.2_5'Flank|BLOC1S2_ENST00000441611.1_Silent_p.L58L	NM_173809.4	NP_776170.2	Q6QNY1	BL1S2_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 2	101					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|melanosome organization (GO:0032438)|microtubule nucleation (GO:0007020)|mitochondrial outer membrane permeabilization (GO:0097345)|neuron projection development (GO:0031175)|platelet dense granule organization (GO:0060155)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	BLOC-1 complex (GO:0031083)|centrosome (GO:0005813)|gamma-tubulin complex (GO:0000930)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	gamma-tubulin binding (GO:0043015)|protein C-terminus binding (GO:0008022)			large_intestine(1)|lung(2)|ovary(1)	4		Colorectal(252;0.117)		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)		TAAGGCTGCAGTCCAGCATCT	0.363																																						uc001kqw.1		NA																	0				ovary(1)	1						c.(301-303)CTG>TTG		biogenesis of lysosome-related organelles							88.0	86.0	87.0					10																	102039977		2203	4300	6503	SO:0001819	synonymous_variant	282991				melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis	BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus	gamma-tubulin binding|identical protein binding|protein C-terminus binding	g.chr10:102039977G>A	AK054697	CCDS7490.1, CCDS73179.1	10q24.31	2012-08-01	2008-08-11		ENSG00000196072	ENSG00000196072		"""Biogenesis of lysosomal organelles complex-1 subunits"""	20984	protein-coding gene	gene with protein product	"""centrosome protein oncogene"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 2"", ""BLOC-1 subunit 2"""	609768				11483580, 15102850	Standard	NM_173809		Approved	MGC10120, FLJ30135, BLOS2	uc001kqw.2	Q6QNY1	OTTHUMG00000018908	ENST00000370372.2:c.301C>T	10.37:g.102039977G>A						BLOC1S2_uc001kqv.1_Silent_p.L58L	p.L101L	NM_173809	NP_776170	Q6QNY1	BL1S2_HUMAN		Epithelial(162;2.44e-10)|all cancers(201;1.97e-08)	4	324	-		Colorectal(252;0.117)	101			Potential.		B4DQV2|Q5W040|Q8WUI8	Silent	SNP	ENST00000370372.2	37	c.301C>T	CCDS7490.1																																																																																				0.363	BLOC1S2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049861.2	NM_173809		3	59	0	0	0	0	3	59				
NFKB2	4791	broad.mit.edu	37	10	104157126	104157126	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104157126C>T	ENST00000369966.3	+	7	713	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	NFKB2_ENST00000428099.1_Nonsense_Mutation_p.Q155*|NFKB2_ENST00000189444.6_Nonsense_Mutation_p.Q155*	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	155	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|spleen development (GO:0048536)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	Acetylsalicylic acid(DB00945)|Glucosamine(DB01296)	ACAAAAACTTCAGAGGCAGCG	0.572			T	IGH@	B-NHL																																	uc001kvb.2		NA		Dom	yes		10	10q24	4791	T	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)			L	IGH@		B-NHL		0				lung(3)	3						c.(463-465)CAG>TAG		nuclear factor of kappa light polypeptide gene							95.0	98.0	97.0					10																	104157126		1885	4114	5999	SO:0001587	stop_gained	4791				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr10:104157126C>T	X61498	CCDS41564.1, CCDS41565.1	10q24	2013-01-10			ENSG00000077150	ENSG00000077150		"""Ankyrin repeat domain containing"""	7795	protein-coding gene	gene with protein product		164012				1876189	Standard	XM_005269860		Approved	LYT-10, p52, p105, NF-kB2	uc001kvb.4	Q00653	OTTHUMG00000018962	ENST00000369966.3:c.463C>T	10.37:g.104157126C>T	ENSP00000358983:p.Gln155*					NFKB2_uc001kva.2_Nonsense_Mutation_p.Q155*|NFKB2_uc010qqk.1_Nonsense_Mutation_p.Q155*|NFKB2_uc001kvd.2_Nonsense_Mutation_p.Q155*|NFKB2_uc009xxc.2_Nonsense_Mutation_p.Q155*	p.Q155*	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)	7	728	+		Colorectal(252;0.00957)	155			RHD.		A8K9D9|D3DR83|Q04860|Q9BU75|Q9H471|Q9H472	Nonsense_Mutation	SNP	ENST00000369966.3	37	c.463C>T	CCDS41564.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782127	0.90282	.	.	ENSG00000077150	ENST00000428099;ENST00000369966;ENST00000336486;ENST00000189444	.	.	.	5.4	5.4	0.78164	.	0.106749	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.2451	0.60018	0.2665:0.7335:0.0:0.0	.	.	.	.	X	155	.	ENSP00000189444:Q155X	Q	+	1	0	NFKB2	104147116	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.180000	0.50895	2.519000	0.84933	0.561000	0.74099	CAG		0.572	NFKB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050080.2			4	121	0	0	0	0	4	121				
PSD	5662	broad.mit.edu	37	10	104163637	104163637	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:104163637C>T	ENST00000020673.5	-	16	3332	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	PSD_ENST00000406432.1_Missense_Mutation_p.E936K	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	936					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CGCTGCTCTTCAGCCTCCTTG	0.662																																						uc001kvg.1		NA																	0				breast(2)|urinary_tract(1)	3						c.(2806-2808)GAA>AAA		pleckstrin and Sec7 domain containing							51.0	42.0	45.0					10																	104163637		2203	4299	6502	SO:0001583	missense	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104163637C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.2806G>A	10.37:g.104163637C>T	ENSP00000020673:p.Glu936Lys					PSD_uc001kve.1_Missense_Mutation_p.E143K|PSD_uc001kvf.1_Missense_Mutation_p.E305K|PSD_uc001kvh.1_Missense_Mutation_p.E557K|PSD_uc009xxd.1_Missense_Mutation_p.E936K	p.E936K	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	16	3333	-			936					B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	ENST00000020673.5	37	c.2806G>A	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.722175	0.89298	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.20738	2.05;2.05	5.12	5.12	0.69794	.	0.181773	0.46145	D	0.000308	T	0.39172	0.1068	L	0.54323	1.7	0.80722	D	1	B;D;D	0.58268	0.013;0.971;0.982	B;P;P	0.58172	0.017;0.611;0.834	T	0.12578	-1.0542	10	0.72032	D	0.01	.	18.3562	0.90358	0.0:1.0:0.0:0.0	.	936;839;557	A5PKW4;Q86YI3;A5PKW4-2	PSD1_HUMAN;.;.	K	936;839;936	ENSP00000020673:E936K;ENSP00000384830:E936K	ENSP00000020673:E936K	E	-	1	0	PSD	104153627	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	5.627000	0.67784	2.665000	0.90641	0.462000	0.41574	GAA		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			4	17	0	0	0	0	4	17				
CUZD1	50624	broad.mit.edu	37	10	124596554	124596554	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:124596554C>T	ENST00000368904.1	-	7	1559	c.610G>A	c.(610-612)Gac>Aac	p.D204N	CUZD1_ENST00000392790.1_Missense_Mutation_p.D204N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D204N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CACTGTTTGTCTATTTCTAGG	0.428																																						uc001lgq.2		NA																	0				ovary(1)|skin(1)	2						c.(610-612)GAC>AAC		CUB and zona pellucida-like domains 1 precursor							45.0	41.0	42.0					10																	124596554		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124596554C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.610G>A	10.37:g.124596554C>T	ENSP00000357900:p.Asp204Asn					CUZD1_uc001lgp.2_5'UTR|CUZD1_uc009yad.2_5'UTR|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_Intron|CUZD1_uc009yae.2_Intron|CUZD1_uc001lgs.2_Missense_Mutation_p.D204N|CUZD1_uc010qtz.1_Missense_Mutation_p.D204N	p.D204N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	5	942	-		all_neural(114;0.169)|Glioma(114;0.222)	204			Extracellular (Potential).|CUB 2.			Missense_Mutation	SNP	ENST00000368904.1	37	c.610G>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924308	0.52653	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.17854	2.25;2.25;2.25	4.97	4.97	0.65823	CUB (5);	0.109676	0.64402	D	0.000006	T	0.37348	0.1000	L	0.49571	1.57	0.44579	D	0.997545	D	0.89917	1.0	D	0.87578	0.998	T	0.04115	-1.0976	10	0.40728	T	0.16	-25.294	17.8274	0.88669	0.0:1.0:0.0:0.0	.	204	Q86UP6	CUZD1_HUMAN	N	204	ENSP00000357900:D204N;ENSP00000441590:D204N;ENSP00000376540:D204N	ENSP00000357900:D204N	D	-	1	0	CUZD1	124586544	0.804000	0.28969	0.033000	0.17914	0.130000	0.20726	4.455000	0.60075	2.299000	0.77371	0.655000	0.94253	GAC		0.428	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		10	20	0	0	0	0	10	20				
GPR26	2849	broad.mit.edu	37	10	125426416	125426416	+	Missense_Mutation	SNP	G	G	A	rs200070620		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:125426416G>A	ENST00000284674.1	+	1	546	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	165					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGGCCAGACGAGCGCCTGCG	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		14698	0.0		0.001	False		,,,				2504	0.0					uc001lhh.2		NA																	0				skin(1)	1						c.(493-495)GAG>AAG		G protein-coupled receptor 26							21.0	18.0	19.0					10																	125426416		2203	4297	6500	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426416G>A		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.493G>A	10.37:g.125426416G>A	ENSP00000284674:p.Glu165Lys						p.E165K	NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN			1	546	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	165			Extracellular (Potential).		Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.493G>A	CCDS7636.1	4	0.0018315018315018315	2	0.0040650406504065045	0	0.0	0	0.0	2	0.002638522427440633	G	16.55	3.155541	0.57259	.	.	ENSG00000154478	ENST00000284674	T	0.37752	1.18	4.02	4.02	0.46733	GPCR, rhodopsin-like superfamily (1);	0.392059	0.27976	N	0.017082	T	0.29914	0.0748	N	0.21448	0.665	0.38409	D	0.945887	P	0.50369	0.934	P	0.44561	0.453	T	0.22347	-1.0219	10	0.40728	T	0.16	-23.9894	16.33	0.83006	0.0:0.0:1.0:0.0	.	165	Q8NDV2	GPR26_HUMAN	K	165	ENSP00000284674:E165K	ENSP00000284674:E165K	E	+	1	0	GPR26	125416406	1.000000	0.71417	0.991000	0.47740	0.886000	0.51366	7.326000	0.79133	2.067000	0.61834	0.655000	0.94253	GAG		0.677	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			6	23	0	0	0	0	6	23				
PTPRE	5791	broad.mit.edu	37	10	129839247	129839247	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129839247G>A	ENST00000254667.3	+	3	381	c.102G>A	c.(100-102)acG>acA	p.T34T	PTPRE_ENST00000419012.2_Silent_p.T34T|PTPRE_ENST00000471218.1_Silent_p.T34T|PTPRE_ENST00000430713.2_Silent_p.T34T	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	34					negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	AGACAACCACGACCTCAGGTA	0.592																																					Colon(52;977 1184 20575 41685)	uc001lkb.2		NA																	0				ovary(1)	1						c.(100-102)ACG>ACA		protein tyrosine phosphatase, receptor type, E							94.0	77.0	83.0					10																	129839247		2203	4300	6503	SO:0001819	synonymous_variant	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129839247G>A	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.102G>A	10.37:g.129839247G>A						PTPRE_uc009yat.2_Silent_p.T45T|PTPRE_uc010qup.1_RNA|PTPRE_uc009yau.2_Silent_p.T34T|PTPRE_uc001lkc.1_RNA	p.T34T	NM_006504	NP_006495	P23469	PTPRE_HUMAN			3	381	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	34			Extracellular (Potential).		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Silent	SNP	ENST00000254667.3	37	c.102G>A	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	6.662	0.490754	0.12702	.	.	ENSG00000132334	ENST00000439034	.	.	.	3.11	-4.52	0.03472	.	.	.	.	.	T	0.18509	0.0444	.	.	.	0.19775	N	0.999952	.	.	.	.	.	.	T	0.27673	-1.0067	5	0.21540	T	0.41	.	3.9265	0.09265	0.1842:0.508:0.18:0.1277	.	.	.	.	Q	48	.	ENSP00000415807:R48Q	R	+	2	0	PTPRE	129729237	0.000000	0.05858	0.001000	0.08648	0.888000	0.51559	-4.174000	0.00280	-1.100000	0.03030	0.650000	0.86243	CGA		0.592	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			3	28	0	0	0	0	3	28				
MKI67	4288	broad.mit.edu	37	10	129914118	129914118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr10:129914118G>A	ENST00000368654.3	-	7	929	c.554C>T	c.(553-555)tCa>tTa	p.S185L	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	185					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGCATGTTCTGAGGAATGAAC	0.413																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(553-555)TCA>TTA		antigen identified by monoclonal antibody Ki-67							191.0	178.0	182.0					10																	129914118		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129914118G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.554C>T	10.37:g.129914118G>A	ENSP00000357643:p.Ser185Leu					MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	p.S185L	NM_002417	NP_002408	P46013	KI67_HUMAN			7	749	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	185					Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.554C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.124335	0.56613	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.24151	1.87	3.69	3.69	0.42338	.	0.429310	0.17315	N	0.178722	T	0.30324	0.0761	L	0.27053	0.805	0.21147	N	0.999774	D	0.76494	0.999	D	0.66084	0.941	T	0.04495	-1.0947	9	.	.	.	.	7.237	0.26076	0.1162:0.0:0.8838:0.0	.	185	P46013	KI67_HUMAN	L	185	ENSP00000357643:S185L	.	S	-	2	0	MKI67	129804108	0.018000	0.18449	0.022000	0.16811	0.113000	0.19764	1.966000	0.40481	2.381000	0.81170	0.655000	0.94253	TCA		0.413	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		17	104	0	0	0	0	17	104				
HRAS	3265	broad.mit.edu	37	11	534289	534289	+	Missense_Mutation	SNP	C	C	T	rs104894229		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:534289C>T	ENST00000451590.1	-	2	221	c.34G>A	c.(34-36)Ggc>Agc	p.G12S	HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000417302.1_Missense_Mutation_p.G12S|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12S(58)|p.G12C(25)|p.G12R(12)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCACACCGCCGGCGCCCACC	0.647		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		95	Substitution - Missense(95)	p.G12V(250)|p.G12S(54)|p.G12D(39)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	upper_aerodigestive_tract(33)|urinary_tract(15)|skin(11)|thyroid(10)|cervix(7)|soft_tissue(5)|salivary_gland(5)|pituitary(3)|large_intestine(2)|lung(1)|penis(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053283|CM061797	HRAS	M	rs104894229	c.(34-36)GGC>AGC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	76.0					11																	534289		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534289C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.34G>A	11.37:g.534289C>T	ENSP00000407586:p.Gly12Ser	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12S|HRAS_uc010qvx.1_Missense_Mutation_p.G12S|HRAS_uc010qvy.1_RNA	p.G12S	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	222	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.34G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.492705	0.64074	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.74329	0.3702	L	0.48935	1.535	0.80722	D	1	P;P	0.44281	0.797;0.831	B;P	0.44359	0.319;0.447	T	0.79598	-0.1737	10	0.72032	D	0.01	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	S	12	ENSP00000380722:G12S;ENSP00000380723:G12S;ENSP00000407586:G12S;ENSP00000388246:G12S;ENSP00000309845:G12S	ENSP00000309845:G12S	G	-	1	0	HRAS	524289	1.000000	0.71417	0.332000	0.25469	0.311000	0.27955	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		5	41	0	0	0	0	5	41				
TNNI2	7136	broad.mit.edu	37	11	1862066	1862066	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:1862066G>A	ENST00000381906.1	+	6	273	c.204G>A	c.(202-204)ctG>ctA	p.L68L	TNNI2_ENST00000381905.3_Silent_p.L68L|TNNI2_ENST00000381911.1_Silent_p.L68L|TNNI2_ENST00000252898.7_Silent_p.L68L	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	68					muscle filament sliding (GO:0030049)|positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|nucleus (GO:0005634)|troponin complex (GO:0005861)	troponin T binding (GO:0031014)			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAACAGCTGCACGCCAAGA	0.672																																						uc010qxe.1		NA																	0					0						c.(202-204)CTG>CTA		fast-twitch skeletal muscle troponin I isoform							60.0	50.0	53.0					11																	1862066		2199	4298	6497	SO:0001819	synonymous_variant	7136				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding	g.chr11:1862066G>A	L21715	CCDS31333.1, CCDS53594.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130598	ENSG00000130598			11946	protein-coding gene	gene with protein product	"""troponin I, fast-twitch skeletal muscle isoform"", ""troponin I fast twitch 2"""	191043	"""troponin I, skeletal, fast"", ""arthrogryposis multiplex congenita, distal, type 2B"""	AMCD2B		9016781, 12592607	Standard	NM_001145829		Approved	FSSV, DA2B	uc010qxe.1	P48788	OTTHUMG00000012253	ENST00000381906.1:c.204G>A	11.37:g.1862066G>A						TNNI2_uc010qxc.1_Silent_p.L66L|TNNI2_uc010qxd.1_Silent_p.L66L	p.L68L	NM_001145841	NP_001139313	P48788	TNNI2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	226	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	68					A6NIV8|A6NJU5	Silent	SNP	ENST00000381906.1	37	c.204G>A	CCDS31333.1																																																																																				0.672	TNNI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034046.2	NM_003282		4	28	0	0	0	0	4	28				
OR51A4	401666	broad.mit.edu	37	11	4967899	4967899	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:4967899G>A	ENST00000380373.2	-	1	457	c.432C>T	c.(430-432)gcC>gcT	p.A144A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCTATTTGGGCAACTCTGA	0.428																																						uc010qys.1		NA																	0				ovary(2)|skin(1)	3						c.(430-432)GCC>GCT		olfactory receptor, family 51, subfamily A,							217.0	222.0	220.0					11																	4967899		2191	4269	6460	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967899G>A	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.432C>T	11.37:g.4967899G>A							p.A144A	NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	432	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	144			Helical; Name=4; (Potential).			Silent	SNP	ENST00000380373.2	37	c.432C>T	CCDS31367.1																																																																																				0.428	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		32	179	0	0	0	0	32	179				
OR51B2	79345	broad.mit.edu	37	11	5344774	5344774	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:5344774T>C	ENST00000328813.2	-	1	808	c.754A>G	c.(754-756)Aca>Gca	p.T252A	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCATCACTGTAACATAGAAG	0.388																																						uc001mao.1		NA																	0				ovary(2)|skin(1)	3						c.(754-756)ACA>GCA		olfactory receptor, family 51, subfamily B,							102.0	94.0	97.0					11																	5344774		2201	4297	6498	SO:0001583	missense	79345				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5344774T>C	AF399503	CCDS31377.1	11p15.4	2012-08-09			ENSG00000184881	ENSG00000184881		"""GPCR / Class A : Olfactory receptors"""	14703	protein-coding gene	gene with protein product				OR51B1P			Standard	NM_033180		Approved		uc001mao.1	Q9Y5P1	OTTHUMG00000066682	ENST00000328813.2:c.754A>G	11.37:g.5344774T>C	ENSP00000327540:p.Thr252Ala					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	p.T252A	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	809	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	252			Helical; Name=6; (Potential).		Q96RD4	Missense_Mutation	SNP	ENST00000328813.2	37	c.754A>G	CCDS31377.1	.	.	.	.	.	.	.	.	.	.	T	2.188	-0.385954	0.04966	.	.	ENSG00000184881	ENST00000328813	T	0.00253	8.43	4.27	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.195332	0.24774	U	0.035710	T	0.00210	0.0006	M	0.65975	2.015	0.09310	N	1	B	0.18013	0.025	B	0.26864	0.074	T	0.40739	-0.9547	10	0.72032	D	0.01	.	5.2053	0.15287	0.0:0.0974:0.293:0.6096	.	252	Q9Y5P1	O51B2_HUMAN	A	252	ENSP00000327540:T252A	ENSP00000327540:T252A	T	-	1	0	OR51B2	5301350	0.026000	0.19158	0.005000	0.12908	0.000000	0.00434	0.092000	0.15066	0.697000	0.31718	-0.325000	0.08501	ACA		0.388	OR51B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142983.1	NM_033180		3	42	0	0	0	0	3	42				
KIAA1549L	25758	broad.mit.edu	37	11	33581457	33581457	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:33581457C>T	ENST00000321505.4	+	6	3307	c.3127C>T	c.(3127-3129)Cca>Tca	p.P1043S	KIAA1549L_ENST00000265654.5_Splice_Site_p.P1049S|KIAA1549L_ENST00000389726.3_Splice_Site_p.P1049S			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1043						integral component of membrane (GO:0016021)											CATTGCTGAACGTGAGTATGG	0.547																																						uc001mup.3		NA																	0				ovary(2)	2						c.(3145-3147)CCA>TCA		hypothetical protein LOC25758							145.0	145.0	145.0					11																	33581457		2045	4191	6236	SO:0001630	splice_region_variant	25758					integral to membrane		g.chr11:33581457C>T	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3127+1C>T	11.37:g.33581457C>T						C11orf41_uc001mun.1_Missense_Mutation_p.P1049S	p.P1049S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN			6	3269	+			1043					B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3145C>T	CCDS44565.2	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105286	0.37145	.	.	ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000265654;ENST00000536568	.	.	.	5.45	4.3	0.51218	.	0.159903	0.64402	D	0.000017	T	0.24547	0.0595	L	0.31065	0.9	0.33721	D	0.616959	P;B	0.40083	0.702;0.087	B;B	0.34824	0.19;0.025	T	0.25882	-1.0119	9	0.32370	T	0.25	-14.5602	6.0705	0.19887	0.0:0.6615:0.1983:0.1402	.	1049;1049	E9PAT2;Q6ZVL6-2	.;.	S	1043;1049;1049;882	.	ENSP00000265654:P1049S	P	+	1	0	C11orf41	33538033	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	3.450000	0.52957	2.715000	0.92844	0.573000	0.79308	CCA		0.547	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194	Missense_Mutation	9	197	0	0	0	0	9	197				
GYLTL1B	120071	broad.mit.edu	37	11	45950273	45950273	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:45950273C>G	ENST00000531526.1	+	14	2154	c.2043C>G	c.(2041-2043)acC>acG	p.T681T	GYLTL1B_ENST00000401752.1_Silent_p.T681T|GYLTL1B_ENST00000536139.1_Silent_p.T650T|GYLTL1B_ENST00000529052.1_Silent_p.T650T|GYLTL1B_ENST00000325468.5_Silent_p.T681T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	681					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCAGCCCCACCTATCGTGACT	0.637																																						uc001nbv.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2041-2043)ACC>ACG		glycosyltransferase-like 1B							83.0	74.0	77.0					11																	45950273		2203	4299	6502	SO:0001819	synonymous_variant	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45950273C>G		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.2043C>G	11.37:g.45950273C>G						GYLTL1B_uc001nbw.1_Silent_p.T650T|GYLTL1B_uc001nbx.1_Silent_p.T681T|GYLTL1B_uc001nby.1_Silent_p.T364T|GYLTL1B_uc001nbz.1_Missense_Mutation_p.P30R	p.T681T	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	14	2154	+			681			Lumenal (Potential).		A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Silent	SNP	ENST00000531526.1	37	c.2043C>G	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.530570	0.27387	.	.	ENSG00000165905	ENST00000531847	.	.	.	5.64	3.68	0.42216	.	.	.	.	.	T	0.55497	0.1924	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50709	-0.8796	4	.	.	.	-8.5051	7.1993	0.25871	0.109:0.629:0.188:0.0741	.	.	.	.	V	43	.	.	L	+	1	2	GYLTL1B	45906849	0.186000	0.23225	0.854000	0.33618	0.980000	0.70556	0.375000	0.20518	2.643000	0.89663	0.655000	0.94253	CTA		0.637	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		8	115	0	0	0	0	8	115				
MADD	8567	broad.mit.edu	37	11	47317523	47317523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:47317523G>A	ENST00000311027.5	+	24	3841	c.3676G>A	c.(3676-3678)Gag>Aag	p.E1226K	MADD_ENST00000342922.4_Missense_Mutation_p.E1188K|MADD_ENST00000405573.2_Missense_Mutation_p.E36K|MADD_ENST00000402192.2_Missense_Mutation_p.E1187K|MADD_ENST00000407859.3_Missense_Mutation_p.E1165K|MADD_ENST00000349238.3_Missense_Mutation_p.E1208K|MADD_ENST00000406482.1_Missense_Mutation_p.E1145K|MADD_ENST00000395336.3_Missense_Mutation_p.E1226K|MADD_ENST00000395344.3_Missense_Mutation_p.E1141K|MADD_ENST00000402799.1_Missense_Mutation_p.E1145K	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ACCAGGTGGCGAGGGCAGTGT	0.483																																						uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(3676-3678)GAG>AAG		MAP-kinase activating death domain-containing							131.0	134.0	133.0					11																	47317523		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47317523G>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.3676G>A	11.37:g.47317523G>A	ENSP00000310933:p.Glu1226Lys					MADD_uc001neq.2_Missense_Mutation_p.E1188K|MADD_uc001nev.1_Missense_Mutation_p.E1145K|MADD_uc001nes.1_Missense_Mutation_p.E1165K|MADD_uc001net.1_Missense_Mutation_p.E1208K|MADD_uc009yln.1_Missense_Mutation_p.E1141K|MADD_uc001neu.1_Missense_Mutation_p.E1145K|MADD_uc001nex.2_Missense_Mutation_p.E1226K|MADD_uc001nez.2_Missense_Mutation_p.E1144K|MADD_uc001new.2_Missense_Mutation_p.E1187K|MADD_uc009ylo.2_Missense_Mutation_p.E140K	p.E1226K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	24	3867	+			1226			Ser-rich.			Missense_Mutation	SNP	ENST00000311027.5	37	c.3676G>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898481	0.52227	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.44083	3.56;3.43;3.43;3.57;3.54;3.43;3.44;3.54;3.56;0.93	5.74	5.74	0.90152	.	0.151553	0.64402	D	0.000014	T	0.28764	0.0713	N	0.19112	0.55	0.35140	D	0.768808	P;B;B;B;B;B;B;B;B;B;B	0.45396	0.857;0.242;0.152;0.24;0.236;0.355;0.355;0.145;0.236;0.155;0.145	B;B;B;B;B;B;B;B;B;B;B	0.39217	0.294;0.054;0.054;0.146;0.115;0.115;0.115;0.115;0.115;0.069;0.115	T	0.32079	-0.9920	10	0.25751	T	0.34	-23.372	15.4202	0.75006	0.0:0.1384:0.8616:0.0	.	36;1141;1141;1226;1145;1145;1145;1208;1165;1226;1188	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	K	1188;1145;1145;1145;1208;1226;1165;1141;1226;1187;36	ENSP00000343902:E1188K;ENSP00000385585:E1145K;ENSP00000384435:E1145K;ENSP00000304505:E1208K;ENSP00000310933:E1226K;ENSP00000384204:E1165K;ENSP00000378753:E1141K;ENSP00000378745:E1226K;ENSP00000384287:E1187K;ENSP00000384483:E36K	ENSP00000310933:E1226K	E	+	1	0	MADD	47274099	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	3.714000	0.54889	2.703000	0.92315	0.655000	0.94253	GAG		0.483	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			16	114	0	0	0	0	16	114				
DDB1	1642	broad.mit.edu	37	11	61079299	61079299	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:61079299G>A	ENST00000301764.7	-	18	2631	c.2234C>T	c.(2233-2235)aCg>aTg	p.T745M	DDB1_ENST00000450997.2_Intron|DDB1_ENST00000545930.1_5'Flank	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	745	Interaction with CDT1.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.T745M(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GCCCCCACTCGTGTCTTGGAC	0.552								Nucleotide excision repair (NER)																														uc001nrc.3		NA																	1	Substitution - Missense(1)		endometrium(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2233-2235)ACG>ATG	NER	damage-specific DNA binding protein 1							101.0	91.0	95.0					11																	61079299		2203	4299	6502	SO:0001583	missense	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61079299G>A	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2234C>T	11.37:g.61079299G>A	ENSP00000301764:p.Thr745Met					DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.T745M	p.T745M	NM_001923	NP_001914	Q16531	DDB1_HUMAN			18	2460	-			745			Interaction with CDT1.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Missense_Mutation	SNP	ENST00000301764.7	37	c.2234C>T	CCDS31576.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518845	0.44763	.	.	ENSG00000167986	ENST00000301764;ENST00000535147	T;T	0.30714	1.52;1.52	5.66	4.74	0.60224	.	0.405892	0.28718	N	0.014368	T	0.24005	0.0581	N	0.22421	0.69	0.80722	D	1	B	0.26876	0.162	B	0.21708	0.036	T	0.02713	-1.1120	10	0.49607	T	0.09	-2.5001	16.8765	0.86053	0.0:0.1279:0.8721:0.0	.	745	Q16531	DDB1_HUMAN	M	745;212	ENSP00000301764:T745M;ENSP00000444650:T212M	ENSP00000301764:T745M	T	-	2	0	DDB1	60835875	1.000000	0.71417	0.717000	0.30585	0.991000	0.79684	3.726000	0.54977	1.376000	0.46267	0.591000	0.81541	ACG		0.552	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		5	64	0	0	0	0	5	64				
B3GAT3	26229	broad.mit.edu	37	11	62389338	62389338	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62389338C>T	ENST00000265471.5	-	1	309	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	B3GAT3_ENST00000534026.1_Splice_Site_p.G28S|B3GAT3_ENST00000531383.1_Splice_Site_p.G28S	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	28					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						ccccgcTCACCGAGCTGTACC	0.716																																						uc001ntw.2		NA																	0					0						c.(82-84)GGC>AGC		beta-1,3-glucuronyltransferase 3							25.0	24.0	24.0					11																	62389338		2199	4284	6483	SO:0001630	splice_region_variant	26229				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding	g.chr11:62389338C>T	AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.82+1G>A	11.37:g.62389338C>T						B3GAT3_uc009ynz.2_Translation_Start_Site|B3GAT3_uc001ntx.2_Intron|B3GAT3_uc010rlz.1_Missense_Mutation_p.G28S	p.G28S	NM_012200	NP_036332	O94766	B3GA3_HUMAN			1	111	-			28			Helical; Signal-anchor for type II membrane protein; (Potential).		B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	ENST00000265471.5	37	c.82G>A	CCDS8025.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.694541|5.694541	0.96793|0.96793	.|.	.|.	ENSG00000149541|ENSG00000149541	ENST00000534715|ENST00000265471;ENST00000531383;ENST00000534026	T|T;T;T	0.43294|0.64085	0.95|-0.06;-0.08;-0.08	4.97|4.97	4.06|4.06	0.47325|0.47325	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.72011|0.72011	0.3408|0.3408	L|L	0.58101|0.58101	1.795|1.795	0.52099|0.52099	D|D	0.999948|0.999948	.|B;D	.|0.89917	.|0.287;1.0	.|B;D	.|0.91635	.|0.032;0.999	T|T	0.70868|0.70868	-0.4755|-0.4755	6|9	.|.	.|.	.|.	.|.	8.9961|8.9961	0.36052|0.36052	0.0:0.9001:0.0:0.0999|0.0:0.9001:0.0:0.0999	.|.	.|28;28	.|B7ZAB3;O94766	.|.;B3GA3_HUMAN	T|S	28|28	ENSP00000432854:A28T|ENSP00000265471:G28S;ENSP00000431359:G28S;ENSP00000432474:G28S	.|.	A|G	-|-	1|1	0|0	B3GAT3|B3GAT3	62145914|62145914	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	5.861000|5.861000	0.69553|0.69553	1.330000|1.330000	0.45394|0.45394	0.549000|0.549000	0.68633|0.68633	GCC|GGC		0.716	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395588.1	NM_012200	Missense_Mutation	3	37	0	0	0	0	3	37				
BSCL2	26580	broad.mit.edu	37	11	62457987	62457987	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:62457987C>A	ENST00000403550.1	-	11	1472	c.1049G>T	c.(1048-1050)gGc>gTc	p.G350V	BSCL2_ENST00000405837.1_Missense_Mutation_p.G416V|BSCL2_ENST00000421906.1_Missense_Mutation_p.G350V|BSCL2_ENST00000433053.1_Missense_Mutation_p.G414V|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000360796.5_Missense_Mutation_p.G414V|BSCL2_ENST00000278893.7_3'UTR|BSCL2_ENST00000407022.3_Missense_Mutation_p.G350V|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	350					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						TTCCCAGGAGCCTGAACCTGG	0.572																																						uc001nuo.1		NA																	0					0						c.(1048-1050)GGC>GTC		seipin isoform 2							37.0	38.0	38.0					11																	62457987		2202	4299	6501	SO:0001583	missense	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62457987C>A		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.1049G>T	11.37:g.62457987C>A	ENSP00000385561:p.Gly350Val					LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_3'UTR|BSCL2_uc001nup.2_Missense_Mutation_p.G350V|BSCL2_uc001nuq.1_Missense_Mutation_p.G350V|BSCL2_uc001nur.3_Missense_Mutation_p.G414V|BSCL2_uc009yod.2_Missense_Mutation_p.G414V|BSCL2_uc001nut.3_Missense_Mutation_p.G416V|HNRNPUL2_uc001nuu.1_RNA	p.G350V	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			11	1473	-			350			Cytoplasmic (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Missense_Mutation	SNP	ENST00000403550.1	37	c.1049G>T	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.096943	0.76870	.	.	ENSG00000168000	ENST00000449636;ENST00000405837;ENST00000433053;ENST00000360796;ENST00000403550;ENST00000407022;ENST00000421906	D;D;D;D;D;D	0.92299	-3.01;-3.01;-3.01;-3.01;-3.01;-3.01	5.41	5.41	0.78517	.	0.000000	0.39909	U	0.001233	D	0.93344	0.7878	L	0.32530	0.975	0.58432	D	0.99999	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.75484	0.968;0.986;0.968	D	0.93997	0.7272	10	0.87932	D	0	-11.2367	14.6919	0.69093	0.0:1.0:0.0:0.0	.	350;414;350	Q53EN3;G3XAE4;Q96G97	.;.;BSCL2_HUMAN	V	102;416;414;414;350;350;350	ENSP00000385332:G416V;ENSP00000414002:G414V;ENSP00000354032:G414V;ENSP00000385561:G350V;ENSP00000384080:G350V;ENSP00000413209:G350V	ENSP00000354032:G414V	G	-	2	0	BSCL2	62214563	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.572000	0.53849	2.536000	0.85505	0.462000	0.41574	GGC		0.572	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		3	41	1	0	0.004672	0.00492543	3	41				
PPP1R14B	26472	broad.mit.edu	37	11	64012227	64012227	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:64012227C>T	ENST00000309318.3	-	4	710	c.443G>A	c.(442-444)tGa>tAa	p.*148*	PPP1R14B_ENST00000392210.2_Silent_p.*46*|RP11-783K16.5_ENST00000544553.1_RNA|RP11-783K16.5_ENST00000538355.1_RNA|PPP1R14B_ENST00000542235.1_Silent_p.*73*|RP11-783K16.13_ENST00000545800.1_lincRNA	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	0					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						CGGGGACCGTCACTTCTTCTG	0.617																																						uc001nza.2		NA																	0					0						c.(442-444)TGA>TAA		protein phosphatase 1 regulatory subunit 14B							40.0	34.0	36.0					11																	64012227		2201	4291	6492	SO:0001819	synonymous_variant	26472				regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	g.chr11:64012227C>T	X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.443G>A	11.37:g.64012227C>T							p.*148*	NM_138689	NP_619634	Q96C90	PP14B_HUMAN			4	711	-			148					Q504S7|Q7KZD7	Silent	SNP	ENST00000309318.3	37	c.443G>A	CCDS31596.1																																																																																				0.617	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396586.2	NM_138689		5	47	0	0	0	0	5	47				
CCDC87	55231	broad.mit.edu	37	11	66358522	66358522	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66358522C>T	ENST00000333861.3	-	1	2032	c.1965G>A	c.(1963-1965)tgG>tgA	p.W655*	CCS_ENST00000310190.4_5'Flank|CCS_ENST00000533244.1_5'Flank	NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	655					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACAGTGTTCCAATCCCACT	0.542																																						uc001oiq.3		NA																	0				ovary(1)|skin(1)	2						c.(1963-1965)TGG>TGA		coiled-coil domain containing 87							68.0	70.0	69.0					11																	66358522		2200	4295	6495	SO:0001587	stop_gained	55231							g.chr11:66358522C>T	BC034469	CCDS8145.1	11q13.2	2006-03-15			ENSG00000182791	ENSG00000182791			25579	protein-coding gene	gene with protein product						12477932	Standard	NM_018219		Approved	FLJ10786	uc001oiq.4	Q9NVE4	OTTHUMG00000167237	ENST00000333861.3:c.1965G>A	11.37:g.66358522C>T	ENSP00000328487:p.Trp655*					CCS_uc001oir.2_5'Flank	p.W655*	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN			1	2033	-			655					Q8NE76	Nonsense_Mutation	SNP	ENST00000333861.3	37	c.1965G>A	CCDS8145.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.771777	0.90108	.	.	ENSG00000182791	ENST00000333861	.	.	.	4.94	4.03	0.46877	.	0.673556	0.12543	N	0.459722	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	10.0048	0.41951	0.0:0.6727:0.3273:0.0	.	.	.	.	X	655	.	ENSP00000328487:W655X	W	-	3	0	CCDC87	66115098	0.620000	0.27068	0.787000	0.31911	0.634000	0.38068	1.376000	0.34306	1.299000	0.44798	0.462000	0.41574	TGG		0.542	CCDC87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393825.1	NM_018219		10	94	0	0	0	0	10	94				
RBM4	5936	broad.mit.edu	37	11	66407347	66407347	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:66407347G>A	ENST00000409406.1	+	1	942	c.165G>A	c.(163-165)ctG>ctA	p.L55L	RBM4_ENST00000310092.7_Silent_p.L55L|RBM4_ENST00000532968.1_Silent_p.L55L|RBM4_ENST00000578778.1_Silent_p.L55L|RBM4_ENST00000530235.1_Silent_p.L55L|RBM4_ENST00000483858.1_Silent_p.L55L|RBM4_ENST00000506523.2_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000503028.2_Silent_p.L55L|RBM4_ENST00000398692.4_Silent_p.L55L|RBM4_ENST00000514361.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000408993.2_Silent_p.L55L|RBM4_ENST00000396053.4_Silent_p.L55L			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TACGCAACCTGCACCATTACA	0.478																																						uc009yrj.2		NA																	0				ovary(1)	1						c.(163-165)CTG>CTA		RNA binding motif protein 4							129.0	126.0	127.0					11																	66407347		2200	4292	6492	SO:0001819	synonymous_variant	5936				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade	nuclear speck|nucleolus|stress granule	miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding	g.chr11:66407347G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.165G>A	11.37:g.66407347G>A						RBM4_uc009yrk.2_Intron|RBM4_uc001oiv.2_Silent_p.L55L|RBM4_uc001oiw.1_Silent_p.L55L|RBM4_uc001oix.1_Silent_p.L55L|RBM4_uc010rpj.1_Silent_p.L55L|RBM4_uc001oiy.1_Silent_p.L55L|RBM4_uc001oiz.1_Silent_p.L55L	p.L55L	NM_002896	NP_002887	Q9BWF3	RBM4_HUMAN		Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	653	+			55			RRM 1.		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Silent	SNP	ENST00000409406.1	37	c.165G>A	CCDS41676.1																																																																																				0.478	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		20	168	0	0	0	0	20	168				
ADRBK1	156	broad.mit.edu	37	11	67050604	67050604	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:67050604G>A	ENST00000308595.5	+	15	1523	c.1233G>A	c.(1231-1233)gtG>gtA	p.V411V	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	411	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	TAAAGGCCGTGGAGCTGCCCG	0.647																																						uc009yrn.1		NA																	0				large_intestine(1)	1						c.(1231-1233)GTG>GTA		beta-adrenergic receptor kinase 1	Adenosine triphosphate(DB00171)						108.0	112.0	110.0					11																	67050604		2200	4295	6495	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67050604G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1233G>A	11.37:g.67050604G>A						ADRBK1_uc009yrm.1_Intron	p.V411V	NM_001619	NP_001610	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		15	1499	+			411			Protein kinase.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1233G>A	CCDS8156.1																																																																																				0.647	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		14	127	0	0	0	0	14	127				
DNAJB13	374407	broad.mit.edu	37	11	73681032	73681032	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:73681032G>A	ENST00000339764.1	+	8	1575	c.824G>A	c.(823-825)gGg>gAg	p.G275E	DNAJB13_ENST00000537753.1_Missense_Mutation_p.G100E|RP11-167N4.2_ENST00000537019.1_RNA|DNAJB13_ENST00000543947.1_Missense_Mutation_p.G100E	NM_153614.2	NP_705842.2	P59910	DJB13_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 13	275					protein folding (GO:0006457)					large_intestine(3)|lung(2)	5	Breast(11;7.42e-05)					AAGGTGCCAGGGGAGGGGATG	0.542																																						uc001ouo.2		NA																	0					0						c.(823-825)GGG>GAG		testis spermatogenesis apoptosis-related protein							126.0	116.0	119.0					11																	73681032		2200	4293	6493	SO:0001583	missense	374407				apoptosis|protein folding|spermatogenesis		heat shock protein binding|unfolded protein binding	g.chr11:73681032G>A	AF516185	CCDS8227.1	11q13.3	2011-09-02	2010-04-21		ENSG00000187726	ENSG00000187726		"""Heat shock proteins / DNAJ (HSP40)"""	30718	protein-coding gene	gene with protein product	"""radial spoke 16 homolog A (Chlamydomonas)"""	610263	"""DnaJ (Hsp40) related, subfamily B, member 13"""				Standard	NM_153614		Approved	TSARG6, RSPH16A	uc001ouo.3	P59910	OTTHUMG00000168093	ENST00000339764.1:c.824G>A	11.37:g.73681032G>A	ENSP00000344431:p.Gly275Glu						p.G275E	NM_153614	NP_705842	P59910	DJB13_HUMAN			8	1575	+	Breast(11;7.42e-05)		275					B3LEP4|Q8IZW5	Missense_Mutation	SNP	ENST00000339764.1	37	c.824G>A	CCDS8227.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.854188	0.71719	.	.	ENSG00000187726	ENST00000339764;ENST00000537753;ENST00000543947	T;T;T	0.56776	0.44;0.44;0.44	5.47	1.56	0.23342	Chaperone DnaJ, C-terminal (1);HSP40/DnaJ peptide-binding (1);	0.111760	0.64402	N	0.000008	T	0.54240	0.1846	M	0.79693	2.465	0.49051	D	0.999749	P	0.48589	0.912	P	0.45406	0.479	T	0.52373	-0.8584	9	.	.	.	.	7.909	0.29778	0.3215:0.0:0.6785:0.0	.	275	P59910	DJB13_HUMAN	E	275;100;100	ENSP00000344431:G275E;ENSP00000439711:G100E;ENSP00000438576:G100E	.	G	+	2	0	DNAJB13	73358680	0.998000	0.40836	0.937000	0.37676	0.926000	0.56050	2.540000	0.45727	0.043000	0.15746	0.644000	0.83932	GGG		0.542	DNAJB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398100.1	NM_153614		10	162	0	0	0	0	10	162				
NCAM1	4684	broad.mit.edu	37	11	113102481	113102481	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:113102481G>A	ENST00000533760.1	+	9	1419	c.820G>A	c.(820-822)Ggc>Agc	p.G274S	NCAM1_ENST00000316851.7_Missense_Mutation_p.G392S|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.G401S	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	402	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.G401S(2)|p.G392S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAACACCATCGGCCAGGACTC	0.582																																						uc009yyq.1		NA																	3	Substitution - Missense(3)		large_intestine(3)	ovary(1)	1						c.(928-930)GGC>AGC		neural cell adhesion molecule 1 isoform 3							93.0	97.0	96.0					11																	113102481		2149	4258	6407	SO:0001583	missense	4684				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102481G>A		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.820G>A	11.37:g.113102481G>A	ENSP00000473281:p.Gly274Ser						p.G310S	NM_001076682	NP_001070150	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	11	1622	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	402			Ig-like C2-type 4.|Extracellular (Potential).		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.928G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.525128	0.96431	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	D;D	0.82711	-1.64;-1.64	4.97	4.97	0.65823	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	U	0.000000	D	0.91620	0.7352	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92398	0.5927	9	0.87932	D	0	-26.4178	18.7841	0.91947	0.0:0.0:1.0:0.0	.	402;392;402;392	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	S	274;401;392	ENSP00000384055:G401S;ENSP00000318472:G392S	ENSP00000318472:G392S	G	+	1	0	NCAM1	112607691	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.565000	0.98154	2.745000	0.94114	0.491000	0.48974	GGC		0.582	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		9	99	0	0	0	0	9	99				
POU2F3	25833	broad.mit.edu	37	11	120170369	120170369	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr11:120170369C>A	ENST00000543440.2	+	5	445	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	POU2F3_ENST00000260264.4_Missense_Mutation_p.L101M	NM_014352.3	NP_055167.2	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	99					epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|negative regulation by host of viral transcription (GO:0043922)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		GCAGCTTGTGCTGGTTCCCGG	0.552											OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001pxc.2		NA																	0				ovary(1)|skin(1)	2						c.(295-297)CTG>ATG		POU transcription factor							119.0	99.0	106.0					11																	120170369		2203	4300	6503	SO:0001583	missense	25833				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	g.chr11:120170369C>A	AF133895	CCDS8431.1, CCDS58190.1	11q23.3	2011-06-20	2007-07-13		ENSG00000137709	ENSG00000137709		"""Homeoboxes / POU class"""	19864	protein-coding gene	gene with protein product		607394	"""POU domain class 2, transcription factor 3"""			10473598	Standard	NM_014352		Approved	OCT11, PLA-1, Skn-1a, Epoc-1	uc021qrk.1	Q9UKI9	OTTHUMG00000166140	ENST00000543440.2:c.295C>A	11.37:g.120170369C>A	ENSP00000441687:p.Leu99Met		OREG0021419	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1501	POU2F3_uc010rzk.1_Missense_Mutation_p.A37D|POU2F3_uc010rzl.1_Missense_Mutation_p.L29M	p.L99M	NM_014352	NP_055167	Q9UKI9	PO2F3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)	5	397	+		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)	99					A8K7H8|B4DY07|F5GWW6|Q3MIY3|Q9UKR7|Q9Y504	Missense_Mutation	SNP	ENST00000543440.2	37	c.295C>A	CCDS8431.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.11|18.11	3.551618|3.551618	0.65311|0.65311	.|.	.|.	ENSG00000137709|ENSG00000137709	ENST00000533620|ENST00000543440;ENST00000260264	D|D;D	0.83506|0.84944	-1.73|-1.92;-1.91	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.295001	.|0.33572	.|N	.|0.004773	D|D	0.87920|0.87920	0.6299|0.6299	L|L	0.49778|0.49778	1.585|1.585	0.58432|0.58432	D|D	0.999996|0.999996	B|D	0.28128|0.76494	0.201|0.999	B|D	0.29942|0.83275	0.109|0.996	D|D	0.87113|0.87113	0.2186|0.2186	9|10	0.25751|0.59425	T|D	0.34|0.04	.|.	6.5591|6.5591	0.22476|0.22476	0.0:0.8038:0.0:0.1962|0.0:0.8038:0.0:0.1962	.|.	37|99	E9PIN6|Q9UKI9	.|PO2F3_HUMAN	D|M	37|101;99	ENSP00000435738:A37D|ENSP00000441687:L101M;ENSP00000260264:L99M	ENSP00000435738:A37D|ENSP00000260264:L99M	A|L	+|+	2|1	0|2	POU2F3|POU2F3	119675579|119675579	0.529000|0.529000	0.26322|0.26322	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	1.112000|1.112000	0.31172|0.31172	2.545000|2.545000	0.85829|0.85829	0.563000|0.563000	0.77884|0.77884	GCT|CTG		0.552	POU2F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388039.2			8	66	1	0	0.00448238	0.0047367	8	66				
ARID2	196528	broad.mit.edu	37	12	46245723	46245723	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:46245723C>T	ENST00000334344.6	+	15	3989	c.3817C>T	c.(3817-3819)Cga>Tga	p.R1273*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.R883*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1124*|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1273					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCCTGCCGACGAGGAGCCAC	0.428			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NA		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(3817-3819)CGA>TGA		AT rich interactive domain 2 (ARID, RFX-like)							51.0	51.0	51.0					12																	46245723		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46245723C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3817C>T	12.37:g.46245723C>T	ENSP00000335044:p.Arg1273*					ARID2_uc001ror.2_Nonsense_Mutation_p.R1273*|ARID2_uc009zkg.1_Nonsense_Mutation_p.R729*|ARID2_uc009zkh.1_Nonsense_Mutation_p.R900*|ARID2_uc001rou.1_Nonsense_Mutation_p.R607*	p.R1273*	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	3817	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1273					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3817C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	43	9.856911	0.99281	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	6.17	5.21	0.72293	.	0.237030	0.43110	D	0.000616	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2899	16.5817	0.84717	0.1917:0.8083:0.0:0.0	.	.	.	.	X	1273;390;390;1124;883	.	ENSP00000335044:R1273X	R	+	1	2	ARID2	44531990	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.429000	0.44758	2.941000	0.99782	0.655000	0.94253	CGA		0.428	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		5	55	0	0	0	0	5	55				
TUBA1A	7846	broad.mit.edu	37	12	49580117	49580117	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:49580117G>A	ENST00000295766.5	-	3	830	c.351C>T	c.(349-351)ctC>ctT	p.L117L	TUBA1A_ENST00000301071.7_Silent_p.L117L|TUBA1A_ENST00000546918.1_Missense_Mutation_p.S168L|TUBA1A_ENST00000550767.1_Silent_p.L82L	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	117					'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	GGTCCAACACGAGGTCAATGA	0.413																																					Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)	uc009zlf.2		NA																	0					0						c.(349-351)CTC>CTT		tubulin, alpha 1a							150.0	150.0	150.0					12																	49580117		2203	4300	6503	SO:0001819	synonymous_variant	7846				'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr12:49580117G>A	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.351C>T	12.37:g.49580117G>A						TUBA1B_uc001rto.2_Silent_p.L82L|TUBA1A_uc001rtp.2_Silent_p.L117L|TUBA1A_uc001rtq.2_Intron|TUBA1A_uc001rtr.2_5'UTR|TUBA1A_uc009zlg.2_5'UTR	p.L117L	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN			3	623	-			117					A8K0B8|G3V1U9|P04687|P05209	Silent	SNP	ENST00000295766.5	37	c.351C>T	CCDS58227.1	.	.	.	.	.	.	.	.	.	.	G	2.494	-0.316764	0.05386	.	.	ENSG00000167552	ENST00000546918	T	0.61040	0.14	5.22	-10.4	0.00318	.	.	.	.	.	T	0.40119	0.1104	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.42799	-0.9430	5	.	.	.	.	9.5611	0.39369	0.1152:0.3535:0.4713:0.0601	.	.	.	.	L	168	ENSP00000446613:S168L	.	S	-	2	0	TUBA1A	47866384	0.000000	0.05858	0.007000	0.13788	0.951000	0.60555	-2.935000	0.00686	-4.436000	0.00049	-1.267000	0.01435	TCG		0.413	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000404547.2	NM_006009		16	146	0	0	0	0	16	146				
KRT5	3852	broad.mit.edu	37	12	52913991	52913991	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:52913991G>A	ENST00000252242.4	-	1	480	c.90C>T	c.(88-90)acC>acT	p.T30T		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	30	Head.				cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|hemidesmosome assembly (GO:0031581)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGTGAAGCTGGTGCGGGAGA	0.662																																						uc001san.2		NA																	0					0						c.(88-90)ACC>ACT		keratin 5							28.0	37.0	34.0					12																	52913991		2203	4300	6503	SO:0001819	synonymous_variant	3852				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton	g.chr12:52913991G>A		CCDS8830.1	12q13.13	2013-01-16	2008-08-01		ENSG00000186081	ENSG00000186081		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6442	protein-coding gene	gene with protein product		148040	"""epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne types"", ""keratin 5 (epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types)"""	EBS2		1713141, 16831889	Standard	NM_000424		Approved	KRT5A	uc001san.3	P13647	OTTHUMG00000169657	ENST00000252242.4:c.90C>T	12.37:g.52913991G>A						KRT5_uc009zmh.2_Silent_p.T30T	p.T30T	NM_000424	NP_000415	P13647	K2C5_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	253	-			30			Head.		Q6PI71|Q6UBJ0|Q8TA91	Silent	SNP	ENST00000252242.4	37	c.90C>T	CCDS8830.1																																																																																				0.662	KRT5-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405312.1			3	53	0	0	0	0	3	53				
OR6C75	390323	broad.mit.edu	37	12	55758919	55758919	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:55758919G>A	ENST00000343399.3	+	1	25	c.25G>A	c.(25-27)Gac>Aac	p.D9N		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGCAGTAACAGACTTTATTCT	0.353																																						uc010spk.1		NA																	0				ovary(2)|large_intestine(1)	3						c.(25-27)GAC>AAC		olfactory receptor, family 6, subfamily C,							111.0	112.0	111.0					12																	55758919		2203	4300	6503	SO:0001583	missense	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55758919G>A		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.25G>A	12.37:g.55758919G>A	ENSP00000368987:p.Asp9Asn						p.D9N	NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN			1	25	+			9			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000343399.3	37	c.25G>A	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598183	0.66332	.	.	ENSG00000187857	ENST00000343399	T	0.02837	4.14	5.16	2.18	0.27775	.	0.676215	0.11673	N	0.540666	T	0.02455	0.0075	L	0.28115	0.83	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43360	-0.9396	10	0.42905	T	0.14	.	6.252	0.20852	0.1648:0.0:0.6867:0.1485	.	9	A6NL08	O6C75_HUMAN	N	9	ENSP00000368987:D9N	ENSP00000368987:D9N	D	+	1	0	OR6C75	54045186	0.000000	0.05858	0.035000	0.18076	0.983000	0.72400	0.395000	0.20850	0.743000	0.32719	0.580000	0.79431	GAC		0.353	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			4	123	0	0	0	0	4	123				
EP400	57634	broad.mit.edu	37	12	132502171	132502171	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:132502171G>A	ENST00000333577.4	+	21	4232	c.4123G>A	c.(4123-4125)Gag>Aag	p.E1375K	EP400_ENST00000389561.2_Missense_Mutation_p.E1339K|EP400_ENST00000389562.2_Missense_Mutation_p.E1338K|EP400_ENST00000332482.4_Missense_Mutation_p.E1302K|EP400_ENST00000330386.6_Missense_Mutation_p.E1339K			Q96L91	EP400_HUMAN	E1A binding protein p400	1375					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGGCTCGTCGAGCCCCGGCA	0.612																																						uc001ujn.2		NA																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(4015-4017)GAG>AAG		E1A binding protein p400							49.0	48.0	49.0					12																	132502171		2203	4300	6503	SO:0001583	missense	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132502171G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.4123G>A	12.37:g.132502171G>A	ENSP00000333602:p.Glu1375Lys					EP400_uc001ujl.2_Missense_Mutation_p.E1338K|EP400_uc001ujm.2_Missense_Mutation_p.E1339K	p.E1339K	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	19	4050	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1375					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37	c.4015G>A		.	.	.	.	.	.	.	.	.	.	G	12.07	1.828513	0.32329	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;T	0.90900	-2.75;-2.75;-2.75;-2.74;-0.9	5.79	5.79	0.91817	.	0.274121	0.41294	D	0.000903	D	0.83760	0.5324	L	0.36672	1.1	0.37158	D	0.902445	P;B;P	0.35433	0.501;0.335;0.501	B;B;B	0.25614	0.062;0.062;0.062	D	0.86154	0.1589	10	0.72032	D	0.01	.	11.0195	0.47709	0.112:0.0:0.888:0.0	.	1339;1339;1338	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	K	1375;1339;1338;1302;1339;1339;1339	ENSP00000333602:E1375K;ENSP00000374212:E1339K;ENSP00000374213:E1338K;ENSP00000331737:E1302K;ENSP00000330620:E1339K	ENSP00000330620:E1339K	E	+	1	0	EP400	131068124	0.998000	0.40836	0.797000	0.32132	0.088000	0.18126	4.201000	0.58439	2.735000	0.93741	0.655000	0.94253	GAG		0.612	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		7	65	0	0	0	0	7	65				
PXMP2	5827	broad.mit.edu	37	12	133277837	133277837	+	Splice_Site	SNP	G	G	A	rs373882774		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133277837G>A	ENST00000317479.3	+	4	466	c.401G>A	c.(400-402)gGg>gAg	p.G134E	PXMP2_ENST00000545677.1_Splice_Site_p.G5G|PXMP2_ENST00000543589.1_Intron|RP13-672B3.2_ENST00000537262.1_Splice_Site_p.G5G|PXMP2_ENST00000428960.2_Splice_Site_p.G41E|PXMP2_ENST00000539093.1_Splice_Site_p.G5G	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	134						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)				large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CCTTTGCAGGGGAAAGACGCC	0.572																																						uc001ukt.2		NA																	0					0						c.(400-402)GGG>GAG		peroxisomal membrane protein 2, 22kDa		G	GLU/GLY	0,4406		0,0,2203	89.0	99.0	96.0		401	5.3	0.9	12		96	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	PXMP2	NM_018663.1	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	134/196	133277837	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133277837G>A		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.400-1G>A	12.37:g.133277837G>A						PGAM5_uc010tbr.1_RNA	p.G134E	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	4	466	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		134			Helical; (Potential).			Missense_Mutation	SNP	ENST00000317479.3	37	c.401G>A	CCDS9279.1	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437091	0.62955	0.0	1.16E-4	ENSG00000176894	ENST00000317479;ENST00000428960	D;D	0.89552	-2.53;-2.53	5.31	5.31	0.75309	.	0.284214	0.37348	N	0.002137	D	0.96191	0.8758	H	0.96633	3.855	0.80722	D	1	D	0.63880	0.993	D	0.63877	0.919	D	0.97309	0.9936	10	0.72032	D	0.01	.	16.8178	0.85738	0.0:0.0:1.0:0.0	.	134	Q9NR77	PXMP2_HUMAN	E	134;41	ENSP00000321271:G134E;ENSP00000398708:G41E	ENSP00000321271:G134E	G	+	2	0	PXMP2	131787910	1.000000	0.71417	0.900000	0.35374	0.124000	0.20399	6.471000	0.73562	2.650000	0.89964	0.514000	0.50259	GGG		0.572	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663	Missense_Mutation	15	165	0	0	0	0	15	165				
GOLGA3	2802	broad.mit.edu	37	12	133362956	133362956	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr12:133362956C>T	ENST00000450791.2	-	14	3275	c.3092G>A	c.(3091-3093)gGt>gAt	p.G1031D	GOLGA3_ENST00000204726.3_Missense_Mutation_p.G1031D|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G1031D|GOLGA3_ENST00000545875.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.G1031D			Q08378	GOGA3_HUMAN	golgin A3	1031					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		ACTGCTGCCACCCTGGGCTCG	0.692																																						uc001ukz.1		NA																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(3091-3093)GGT>GAT		Golgi autoantigen, golgin subfamily a, 3							30.0	23.0	25.0					12																	133362956		2202	4298	6500	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133362956C>T	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.3092G>A	12.37:g.133362956C>T	ENSP00000410378:p.Gly1031Asp					GOLGA3_uc001ula.1_Missense_Mutation_p.G1031D|GOLGA3_uc001ulb.2_Missense_Mutation_p.G1031D	p.G1031D	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	15	3651	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1031			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.3092G>A	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383466	0.25031	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.29917	1.98;1.98;1.97;1.55;1.55	5.71	-3.24	0.05094	.	0.717256	0.14854	N	0.294540	T	0.12475	0.0303	N	0.22421	0.69	0.19575	N	0.999966	B;B;P	0.36282	0.435;0.355;0.546	B;B;B	0.33690	0.086;0.115;0.168	T	0.32188	-0.9916	10	0.12430	T	0.62	.	4.2259	0.10580	0.3929:0.4033:0.1235:0.0803	.	1031;1031;1031	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	D	1031	ENSP00000204726:G1031D;ENSP00000410378:G1031D;ENSP00000409303:G1031D;ENSP00000442143:G1031D;ENSP00000442603:G1031D	ENSP00000204726:G1031D	G	-	2	0	GOLGA3	131873029	0.126000	0.22350	0.004000	0.12327	0.061000	0.15899	1.243000	0.32767	-0.410000	0.07542	0.655000	0.94253	GGT		0.692	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		5	41	0	0	0	0	5	41				
NUPL1	9818	broad.mit.edu	37	13	25914137	25914137	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:25914137C>T	ENST00000381736.3	+	16	1915	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	NUPL1_ENST00000381718.3_Silent_p.F543F	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	555	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		GGTTTAACTTCAGCAATCCTG	0.418																																					Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	uc001uqi.2		NA																	0					0						c.(1663-1665)TTC>TTT		nucleoporin like 1 isoform a							189.0	175.0	180.0					13																	25914137		2203	4300	6503	SO:0001819	synonymous_variant	9818				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore		g.chr13:25914137C>T	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.1665C>T	13.37:g.25914137C>T						NUPL1_uc001uqj.2_Silent_p.F543F	p.F555F	NM_014089	NP_054808	Q9BVL2	NUPL1_HUMAN		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)	16	1911	+		Lung SC(185;0.0225)|Breast(139;0.0351)	555			14 X 2 AA repeats of F-G.		A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Silent	SNP	ENST00000381736.3	37	c.1665C>T	CCDS9314.1																																																																																				0.418	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2			4	129	0	0	0	0	4	129				
SLC46A3	283537	broad.mit.edu	37	13	29278221	29278221	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:29278221C>T	ENST00000266943.6	-	5	1529	c.1160G>A	c.(1159-1161)tGt>tAt	p.C387Y	SLC46A3_ENST00000475385.1_5'UTR|SLC46A3_ENST00000380814.4_Missense_Mutation_p.C387Y|RNU6-53P_ENST00000365367.1_RNA	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3	387					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		GAAAGCAATACAAGCAAACAG	0.398																																						uc001usi.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1159-1161)TGT>TAT		solute carrier family 46, member 3 isoform a							65.0	71.0	69.0					13																	29278221		2203	4300	6503	SO:0001583	missense	283537				transmembrane transport	integral to membrane		g.chr13:29278221C>T		CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.1160G>A	13.37:g.29278221C>T	ENSP00000266943:p.Cys387Tyr					SLC46A3_uc001usg.2_Missense_Mutation_p.C312Y|SLC46A3_uc001usj.2_Missense_Mutation_p.C387Y|SLC46A3_uc001ush.2_Missense_Mutation_p.C387Y	p.C387Y	NM_181785	NP_861450	Q7Z3Q1	S46A3_HUMAN		all cancers(112;0.159)	4	2130	-		Lung SC(185;0.0367)	387			Helical; (Potential).		Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	Missense_Mutation	SNP	ENST00000266943.6	37	c.1160G>A	CCDS9332.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622052	0.66787	.	.	ENSG00000139508	ENST00000266943;ENST00000380814	T;T	0.56776	0.44;0.44	5.77	5.77	0.91146	Major facilitator superfamily domain, general substrate transporter (1);	0.101499	0.64402	D	0.000002	T	0.73528	0.3598	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	T	0.70927	-0.4739	10	0.45353	T	0.12	-17.391	20.3473	0.98799	0.0:1.0:0.0:0.0	.	387;387	Q7Z3Q1-2;Q7Z3Q1	.;S46A3_HUMAN	Y	387	ENSP00000266943:C387Y;ENSP00000370192:C387Y	ENSP00000266943:C387Y	C	-	2	0	SLC46A3	28176221	1.000000	0.71417	0.957000	0.39632	0.708000	0.40852	5.139000	0.64801	2.884000	0.98904	0.655000	0.94253	TGT		0.398	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276111.1	NM_181785		5	70	0	0	0	0	5	70				
STARD13	90627	broad.mit.edu	37	13	33859613	33859613	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:33859613G>C	ENST00000336934.5	-	1	279	c.163C>G	c.(163-165)Caa>Gaa	p.Q55E	STARD13_ENST00000487412.1_5'UTR	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	55	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TCACCTTGTTGAATTTTAGTC	0.458																																						uc001uuw.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(163-165)CAA>GAA		StAR-related lipid transfer (START) domain							133.0	124.0	127.0					13																	33859613		2203	4300	6503	SO:0001583	missense	90627				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	g.chr13:33859613G>C	AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.163C>G	13.37:g.33859613G>C	ENSP00000338785:p.Gln55Glu					STARD13_uc001uux.2_Intron|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Intron	p.Q55E	NM_178006	NP_821074	Q9Y3M8	STA13_HUMAN		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)	1	289	-	all_epithelial(80;0.155)	Lung SC(185;0.0367)	55			SAM.		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	c.163C>G	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.880047	0.51801	.	.	ENSG00000133121	ENST00000336934	T	0.40756	1.02	5.12	5.12	0.69794	.	0.498356	0.20890	N	0.083850	T	0.23330	0.0564	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.17722	0.019	T	0.09618	-1.0666	10	0.02654	T	1	.	17.72	0.88348	0.0:0.0:1.0:0.0	.	55	Q9Y3M8	STA13_HUMAN	E	55	ENSP00000338785:Q55E	ENSP00000338785:Q55E	Q	-	1	0	STARD13	32757613	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	4.896000	0.63222	2.654000	0.90174	0.555000	0.69702	CAA		0.458	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466		8	113	0	0	0	0	8	113				
COG6	57511	broad.mit.edu	37	13	40261891	40261891	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:40261891G>A	ENST00000455146.3	+	10	1014	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	COG6_ENST00000416691.1_Missense_Mutation_p.E322K	NM_020751.2	NP_065802.1	Q9Y2V7	COG6_HUMAN	component of oligomeric golgi complex 6	322					glycosylation (GO:0070085)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TACTGCTTCTGAAAAGGAACA	0.373																																						uc001uxh.2		NA																	0				kidney(1)|skin(1)	2						c.(964-966)GAA>AAA		component of oligomeric golgi complex 6 isoform							102.0	96.0	98.0					13																	40261891		2203	4300	6503	SO:0001583	missense	57511				protein transport	Golgi membrane|Golgi transport complex		g.chr13:40261891G>A	AK026638	CCDS9370.1, CCDS45042.1	13q13.2	2011-08-01			ENSG00000133103	ENSG00000133103		"""Components of oligomeric golgi complex"""	18621	protein-coding gene	gene with protein product		606977				11980916	Standard	NM_020751		Approved	COD2, KIAA1134	uc001uxh.2	Q9Y2V7	OTTHUMG00000016768	ENST00000455146.3:c.964G>A	13.37:g.40261891G>A	ENSP00000397441:p.Glu322Lys					COG6_uc001uxi.2_Missense_Mutation_p.E270K|COG6_uc010acb.2_Missense_Mutation_p.E322K	p.E322K	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)	10	1064	+		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)	322					Q5T0U1|Q6AI19|Q86V49|Q9ULT5	Missense_Mutation	SNP	ENST00000455146.3	37	c.964G>A	CCDS9370.1	.	.	.	.	.	.	.	.	.	.	G	35	5.544097	0.96488	.	.	ENSG00000133103	ENST00000416691;ENST00000255468;ENST00000455146	T;T	0.76316	-1.01;-1.01	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.90665	0.7072	M	0.90483	3.12	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.78314	0.991;0.987	D	0.91794	0.5446	10	0.87932	D	0	-6.8957	19.174	0.93594	0.0:0.0:1.0:0.0	.	343;322	Q5T0U2;Q9Y2V7	.;COG6_HUMAN	K	322;353;322	ENSP00000403733:E322K;ENSP00000397441:E322K	ENSP00000255468:E353K	E	+	1	0	COG6	39159891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.361000	0.79497	2.777000	0.95525	0.591000	0.81541	GAA		0.373	COG6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044622.3			5	64	0	0	0	0	5	64				
LACC1	144811	broad.mit.edu	37	13	44463085	44463085	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr13:44463085C>T	ENST00000441843.1	+	5	1585	c.1100C>T	c.(1099-1101)cCa>cTa	p.P367L	LACC1_ENST00000325686.6_Missense_Mutation_p.P367L	NM_001128303.1	NP_001121775.1	Q8IV20	LACC1_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	367																	TTTGATTCACCAAATCCCTGT	0.373																																						uc010acg.2		NA																	0					0						c.(1099-1101)CCA>CTA		hypothetical protein LOC144811							189.0	170.0	177.0					13																	44463085		2203	4300	6503	SO:0001583	missense	144811							g.chr13:44463085C>T	AK096044	CCDS9391.1	13q14.11	2012-05-11	2011-08-09	2011-08-09	ENSG00000179630	ENSG00000179630			26789	protein-coding gene	gene with protein product		613409	"""chromosome 13 open reading frame 31"""	C13orf31		16740638, 22504414	Standard	NM_153218		Approved	FLJ38725	uc010acg.3	Q8IV20	OTTHUMG00000016826	ENST00000441843.1:c.1100C>T	13.37:g.44463085C>T	ENSP00000391747:p.Pro367Leu					C13orf31_uc001uzf.3_Missense_Mutation_p.P367L	p.P367L	NM_001128303	NP_001121775	Q8IV20	CM031_HUMAN		GBM - Glioblastoma multiforme(144;0.000573)|BRCA - Breast invasive adenocarcinoma(63;0.121)	5	1585	+		Lung NSC(96;0.000163)|all_hematologic(4;0.0127)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Breast(139;0.0364)|Lung SC(185;0.0367)|Acute lymphoblastic leukemia(4;0.138)	367					A2A3Z6|Q8N8X5	Missense_Mutation	SNP	ENST00000441843.1	37	c.1100C>T	CCDS9391.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554285	0.45487	.	.	ENSG00000179630	ENST00000441843;ENST00000325686	T;T	0.43294	0.95;0.95	5.76	5.76	0.90799	.	0.328341	0.34628	N	0.003814	T	0.49745	0.1575	M	0.77103	2.36	0.58432	D	0.999999	B	0.16802	0.019	B	0.19391	0.025	T	0.44251	-0.9340	10	0.40728	T	0.16	-34.684	18.9573	0.92664	0.0:1.0:0.0:0.0	.	367	Q8IV20	LACC1_HUMAN	L	367	ENSP00000391747:P367L;ENSP00000317619:P367L	ENSP00000317619:P367L	P	+	2	0	LACC1	43361085	0.998000	0.40836	0.889000	0.34880	0.301000	0.27625	4.109000	0.57824	2.718000	0.92993	0.650000	0.86243	CCA		0.373	LACC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044726.3	NM_153218		4	78	0	0	0	0	4	78				
SUPT16H	11198	broad.mit.edu	37	14	21822578	21822578	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21822578C>T	ENST00000216297.2	-	23	3120	c.2782G>A	c.(2782-2784)Gag>Aag	p.E928K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	928	Glu-rich (acidic).				DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		ACCTCACCCTCAGGCTCCAGG	0.478																																						uc001wao.2		NA																	0					0						c.(2782-2784)GAG>AAG		chromatin-specific transcription elongation							126.0	99.0	108.0					14																	21822578		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21822578C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2782G>A	14.37:g.21822578C>T	ENSP00000216297:p.Glu928Lys					SUPT16H_uc001wan.2_Missense_Mutation_p.E72K	p.E928K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	23	3121	-	all_cancers(95;0.00115)		928			Glu-rich (acidic).		Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2782G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642124	0.87859	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.76	5.76	0.90799	Domain of unknown function DUF1747, eukaryote (1);	0.111680	0.64402	D	0.000014	T	0.62768	0.2455	M	0.78916	2.43	0.80722	D	1	P	0.37781	0.608	B	0.27076	0.076	T	0.68610	-0.5363	9	0.56958	D	0.05	-20.8602	18.8056	0.92035	0.0:1.0:0.0:0.0	.	928	Q9Y5B9	SP16H_HUMAN	K	928	.	ENSP00000216297:E928K	E	-	1	0	SUPT16H	20892418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.958000	0.76025	2.739000	0.93911	0.644000	0.83932	GAG		0.478	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			6	46	0	0	0	0	6	46				
SUPT16H	11198	broad.mit.edu	37	14	21825367	21825367	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21825367C>T	ENST00000216297.2	-	22	2987	c.2649G>A	c.(2647-2649)aaG>aaA	p.K883K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	883					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCAACCATTCCTTGATGGGGT	0.413																																						uc001wao.2		NA																	0					0						c.(2647-2649)AAG>AAA		chromatin-specific transcription elongation							175.0	133.0	147.0					14																	21825367		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21825367C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2649G>A	14.37:g.21825367C>T						SUPT16H_uc001wan.2_Silent_p.K27K	p.K883K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	22	2988	-	all_cancers(95;0.00115)		883					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.2649G>A	CCDS9569.1																																																																																				0.413	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			3	16	0	0	0	0	3	16				
SUPT16H	11198	broad.mit.edu	37	14	21826091	21826091	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:21826091C>T	ENST00000216297.2	-	21	2823	c.2485G>A	c.(2485-2487)Gaa>Aaa	p.E829K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	829					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTCACCCATTCCGTAGCATTT	0.368																																						uc001wao.2		NA																	0					0						c.(2485-2487)GAA>AAA		chromatin-specific transcription elongation							55.0	52.0	53.0					14																	21826091		2203	4300	6503	SO:0001583	missense	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21826091C>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.2485G>A	14.37:g.21826091C>T	ENSP00000216297:p.Glu829Lys					SUPT16H_uc001wan.2_5'UTR	p.E829K	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	21	2824	-	all_cancers(95;0.00115)		829					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Missense_Mutation	SNP	ENST00000216297.2	37	c.2485G>A	CCDS9569.1	.	.	.	.	.	.	.	.	.	.	C	35	5.431882	0.96150	.	.	ENSG00000092201	ENST00000216297	.	.	.	5.48	5.48	0.80851	Domain of unknown function DUF1747, eukaryote (1);	0.000000	0.85682	D	0.000000	D	0.86306	0.5901	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.89429	0.3715	9	0.87932	D	0	-18.6852	18.1132	0.89542	0.0:1.0:0.0:0.0	.	829	Q9Y5B9	SP16H_HUMAN	K	829	.	ENSP00000216297:E829K	E	-	1	0	SUPT16H	20895931	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	6.438000	0.73426	2.571000	0.86741	0.561000	0.74099	GAA		0.368	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2			4	37	0	0	0	0	4	37				
AKAP6	9472	broad.mit.edu	37	14	33292668	33292668	+	Missense_Mutation	SNP	C	C	G	rs113957453		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:33292668C>G	ENST00000280979.4	+	13	5819	c.5649C>G	c.(5647-5649)ttC>ttG	p.F1883L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1883					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAACTATTTTCAAAGTTAATA	0.353																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2		NA																	0				breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(5647-5649)TTC>TTG		A-kinase anchor protein 6							47.0	50.0	49.0					14																	33292668		2200	4300	6500	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292668C>G	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5649C>G	14.37:g.33292668C>G	ENSP00000280979:p.Phe1883Leu						p.F1883L	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	5819	+	Breast(36;0.0388)|Prostate(35;0.15)		1883					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5649C>G	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222559	0.39300	.	.	ENSG00000151320	ENST00000280979	T	0.04706	3.57	5.47	4.57	0.56435	.	0.257272	0.39544	N	0.001324	T	0.05456	0.0144	L	0.47716	1.5	0.80722	D	1	B	0.23442	0.085	B	0.19666	0.026	T	0.26467	-1.0102	10	0.59425	D	0.04	-8.2632	6.996	0.24782	0.0:0.7003:0.0:0.2997	.	1883	Q13023	AKAP6_HUMAN	L	1883	ENSP00000280979:F1883L	ENSP00000280979:F1883L	F	+	3	2	AKAP6	32362419	0.791000	0.28800	1.000000	0.80357	0.998000	0.95712	0.106000	0.15354	1.279000	0.44446	0.650000	0.86243	TTC		0.353	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		3	28	0	0	0	0	3	28				
SLC38A6	145389	broad.mit.edu	37	14	61510219	61510219	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:61510219G>C	ENST00000267488.4	+	10	858	c.742G>C	c.(742-744)Gag>Cag	p.E248Q	SLC38A6_ENST00000456840.2_Missense_Mutation_p.E225Q|SLC38A6_ENST00000354886.2_Missense_Mutation_p.E248Q	NM_153811.2	NP_722518.2	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	248					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTTCTCCAAAGAGGTGTGTAA	0.343																																						uc001xfg.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(742-744)GAG>CAG		solute carrier family 38, member 6							57.0	57.0	57.0					14																	61510219		2202	4299	6501	SO:0001583	missense	145389				amino acid transport|sodium ion transport	integral to membrane		g.chr14:61510219G>C	AF070578	CCDS9751.1, CCDS53900.1	14q23.1	2013-05-22			ENSG00000139974	ENSG00000139974		"""Solute carriers"""	19863	protein-coding gene	gene with protein product							Standard	NM_153811		Approved	NAT-1	uc001xfh.2	Q8IZM9	OTTHUMG00000140335	ENST00000267488.4:c.742G>C	14.37:g.61510219G>C	ENSP00000267488:p.Glu248Gln					SLC38A6_uc001xfh.1_Missense_Mutation_p.E248Q|SLC38A6_uc001xfi.2_RNA|SLC38A6_uc001xfj.1_RNA|SLC38A6_uc001xfk.2_RNA|SLC38A6_uc010trz.1_Missense_Mutation_p.E225Q	p.E248Q	NM_153811	NP_722518	Q8IZM9	S38A6_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0981)	10	858	+			248					C9JWA6|Q86SY5	Missense_Mutation	SNP	ENST00000267488.4	37	c.742G>C	CCDS9751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.226|6.226	0.409822|0.409822	0.11812|0.11812	.|.	.|.	ENSG00000139974|ENSG00000139974	ENST00000354886;ENST00000267488;ENST00000451406;ENST00000456840|ENST00000533744	T;T;T;T|T	0.02258|0.02631	4.37;4.37;4.37;4.37|4.22	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	0.200326|.	0.52532|.	D|.	0.000061|.	T|T	0.04182|0.04182	0.0116|0.0116	N|N	0.10645|0.10645	0.015|0.015	0.49798|0.49798	D|D	0.999821|0.999821	B;B;B|.	0.25772|.	0.063;0.134;0.075|.	B;B;B|.	0.23419|.	0.046;0.027;0.026|.	T|T	0.60378|0.60378	-0.7275|-0.7275	10|7	0.02654|0.56958	T|D	1|0.05	-2.2933|-2.2933	18.5607|18.5607	0.91098|0.91098	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	225;248;248|.	E7ETF2;Q8IZM9-2;Q8IZM9|.	.;.;S38A6_HUMAN|.	Q|N	248;248;243;225|165	ENSP00000346959:E248Q;ENSP00000267488:E248Q;ENSP00000395851:E243Q;ENSP00000413863:E225Q|ENSP00000434543:K165N	ENSP00000267488:E248Q|ENSP00000434543:K165N	E|K	+|+	1|3	0|2	SLC38A6|SLC38A6	60579972|60579972	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.598000|4.598000	0.61069|0.61069	2.822000|2.822000	0.97130|0.97130	0.563000|0.563000	0.77884|0.77884	GAG|AAG		0.343	SLC38A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276957.1			4	46	0	0	0	0	4	46				
CPSF2	53981	broad.mit.edu	37	14	92625471	92625471	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:92625471G>A	ENST00000298875.4	+	14	2251	c.1966G>A	c.(1966-1968)Gat>Aat	p.D656N		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	656					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		ACTAAAGGATGATGGAGAAGA	0.413																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	0				ovary(2)	2						c.(1966-1968)GAT>AAT		cleavage and polyadenylation specific factor 2							113.0	110.0	111.0					14																	92625471		2203	4300	6503	SO:0001583	missense	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92625471G>A	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.1966G>A	14.37:g.92625471G>A	ENSP00000298875:p.Asp656Asn						p.D656N	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	14	2203	+		all_cancers(154;0.0766)	656					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.1966G>A	CCDS9902.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.60|15.60	2.881390|2.881390	0.51801|0.51801	.|.	.|.	ENSG00000165934|ENSG00000165934	ENST00000298875|ENST00000555244	T|.	0.44482|.	0.92|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.058748|.	0.64402|.	D|.	0.000001|.	T|T	0.57975|0.57975	0.2090|0.2090	L|L	0.29908|0.29908	0.895|0.895	0.58432|0.58432	D|D	0.999995|0.999995	B|.	0.17038|.	0.02|.	B|.	0.16289|.	0.015|.	T|T	0.53795|0.53795	-0.8388|-0.8388	10|5	0.25106|.	T|.	0.35|.	.|.	18.4879|18.4879	0.90836|0.90836	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	656|.	Q9P2I0|.	CPSF2_HUMAN|.	N|I	656|172	ENSP00000298875:D656N|.	ENSP00000298875:D656N|.	D|M	+|+	1|3	0|0	CPSF2|CPSF2	91695224|91695224	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	9.714000|9.714000	0.98744|0.98744	2.346000|2.346000	0.79739|0.79739	0.591000|0.591000	0.81541|0.81541	GAT|ATG		0.413	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			5	44	0	0	0	0	5	44				
SERPINA10	51156	broad.mit.edu	37	14	94750479	94750479	+	Silent	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:94750479T>G	ENST00000393096.1	-	5	1623	c.1158A>C	c.(1156-1158)acA>acC	p.T386T	SERPINA10_ENST00000554173.1_Silent_p.T386T|SERPINA10_ENST00000554723.1_Silent_p.T426T|SERPINA10_ENST00000261994.4_Silent_p.T386T	NM_016186.2	NP_057270.1	Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	386					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CTTCAATCACTGTTCTTTGTA	0.428																																						uc001yct.2		NA																	0				ovary(2)|skin(1)	3						c.(1156-1158)ACA>ACC		serine (or cysteine) proteinase inhibitor, clade							77.0	69.0	71.0					14																	94750479		2203	4300	6503	SO:0001819	synonymous_variant	51156				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94750479T>G	AF181467	CCDS9923.1	14q32.13	2014-02-18	2005-08-18		ENSG00000140093	ENSG00000140093		"""Serine (or cysteine) peptidase inhibitors"""	15996	protein-coding gene	gene with protein product		605271	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10"""			10460162, 9689066, 24172014	Standard	NM_016186		Approved	PZI, ZPI	uc001yct.3	Q9UK55	OTTHUMG00000171345	ENST00000393096.1:c.1158A>C	14.37:g.94750479T>G						SERPINA10_uc001ycu.3_Silent_p.T386T	p.T386T	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	5	1624	-		all_cancers(154;0.105)	386					A5Z2A5|Q6UWX9|Q86U20	Silent	SNP	ENST00000393096.1	37	c.1158A>C	CCDS9923.1																																																																																				0.428	SERPINA10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413061.1	NM_016186		6	22	0	0	0	0	6	22				
AHNAK2	113146	broad.mit.edu	37	14	105417209	105417209	+	Missense_Mutation	SNP	C	C	T	rs376015261	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105417209C>T	ENST00000333244.5	-	7	4698	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1527						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGGCTCACGTCGGCCTCC	0.622													.|||	17	0.00339457	0.0083	0.0	5008	,	,		14708	0.005		0.0	False		,,,				2504	0.001					uc010axc.1		NA																	0				ovary(1)	1						c.(4579-4581)GTG>ATG		AHNAK nucleoprotein 2		C	MET/VAL	14,3868		0,14,1927	130.0	100.0	109.0		4579	-0.0	0.0	14		109	0,8110		0,0,4055	no	missense	AHNAK2	NM_138420.2	21	0,14,5982	TT,TC,CC		0.0,0.3606,0.1167	benign	1527/5796	105417209	14,11978	1941	4055	5996	SO:0001583	missense	113146					nucleus		g.chr14:105417209C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4579G>A	14.37:g.105417209C>T	ENSP00000353114:p.Val1527Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	p.V1527M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4699	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1527					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4579G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.419	1.082530	0.20309	0.003606	0.0	ENSG00000185567	ENST00000333244	T	0.01145	5.27	4.16	-0.0172	0.13969	.	.	.	.	.	T	0.01558	0.0050	M	0.80746	2.51	0.09310	N	1	B	0.34161	0.439	B	0.27170	0.077	T	0.40942	-0.9536	9	0.38643	T	0.18	-4.7265	2.2352	0.04006	0.2316:0.4839:0.1133:0.1712	.	1527	Q8IVF2	AHNK2_HUMAN	M	1527	ENSP00000353114:V1527M	ENSP00000353114:V1527M	V	-	1	0	AHNAK2	104488254	0.163000	0.22920	0.000000	0.03702	0.002000	0.02628	0.602000	0.24134	-0.369000	0.08028	-1.400000	0.01143	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		6	247	0	0	0	0	6	247				
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T	rs201140610	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr14:105418199C>T	ENST00000333244.5	-	7	3708	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		17285	0.001		0.0	False		,,,				2504	0.001					uc010axc.1		NA																	0				ovary(1)	1						c.(3589-3591)GTG>ATG		AHNAK nucleoprotein 2							133.0	122.0	125.0					14																	105418199		1954	4112	6066	SO:0001583	missense	113146					nucleus		g.chr14:105418199C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3589G>A	14.37:g.105418199C>T	ENSP00000353114:p.Val1197Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	p.V1197M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3709	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1197					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3589G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	13.92	2.380363	0.42207	.	.	ENSG00000185567	ENST00000333244	T	0.01209	5.17	4.26	-0.976	0.10286	.	.	.	.	.	T	0.01661	0.0053	M	0.67397	2.05	0.09310	N	1	P	0.51653	0.947	P	0.44811	0.461	T	0.39583	-0.9607	9	0.48119	T	0.1	.	1.4605	0.02394	0.1364:0.4128:0.1328:0.3181	.	1197	Q8IVF2	AHNK2_HUMAN	M	1197	ENSP00000353114:V1197M	ENSP00000353114:V1197M	V	-	1	0	AHNAK2	104489244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.067000	0.03451	-0.647000	0.05444	-0.320000	0.08662	GTG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		11	191	0	0	0	0	11	191				
MAPKBP1	23005	broad.mit.edu	37	15	42067523	42067523	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:42067523G>A	ENST00000456763.2	+	2	246	c.50G>A	c.(49-51)aGa>aAa	p.R17K	MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R17K|RP11-107F6.3_ENST00000562063.1_lincRNA|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R17K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R17K	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	17										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AATCTGTTGAGATCTCCATCC	0.542																																						uc001zok.3		NA																	0				central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	10						c.(49-51)AGA>AAA		mitogen-activated protein kinase binding protein							118.0	103.0	108.0					15																	42067523		2203	4300	6503	SO:0001583	missense	23005							g.chr15:42067523G>A	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.50G>A	15.37:g.42067523G>A	ENSP00000393099:p.Arg17Lys					MAPKBP1_uc001zoj.3_Missense_Mutation_p.R17K|MAPKBP1_uc010bcj.2_5'UTR|MAPKBP1_uc010bci.2_Missense_Mutation_p.R17K|MAPKBP1_uc010udb.1_5'UTR|MAPKBP1_uc010bck.2_5'UTR	p.R17K	NM_001128608	NP_001122080	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	2	336	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	17					A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.50G>A	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072090	0.76415	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535	T;T;T;T;T	0.59906	0.94;1.34;0.99;1.19;0.23	6.0	6.0	0.97389	.	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	L	0.50333	1.59	0.80722	D	1	P;D;B	0.63880	0.94;0.993;0.234	P;P;B	0.57620	0.647;0.824;0.067	T	0.55768	-0.8089	10	0.08837	T	0.75	-9.0194	17.4723	0.87649	0.0:0.0:1.0:0.0	.	17;17;17	O60336-2;O60336;O60336-6	.;MABP1_HUMAN;.	K	17	ENSP00000397570:R17K;ENSP00000221214:R17K;ENSP00000393099:R17K;ENSP00000426154:R17K;ENSP00000422132:R17K	ENSP00000221214:R17K	R	+	2	0	MAPKBP1	39854815	1.000000	0.71417	0.975000	0.42487	0.783000	0.44284	6.310000	0.72830	2.864000	0.98301	0.551000	0.68910	AGA		0.542	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994		9	70	0	0	0	0	9	70				
NEDD4	4734	broad.mit.edu	37	15	56144728	56144728	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:56144728G>A	ENST00000508342.1	-	9	2596	c.2297C>T	c.(2296-2298)tCa>tTa	p.S766L	NEDD4_ENST00000338963.2_Missense_Mutation_p.S694L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S750L|NEDD4_ENST00000435532.3_Missense_Mutation_p.S347L	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	766	Mediates interaction with TNIK. {ECO:0000250}.				adaptive immune response (GO:0002250)|blood vessel morphogenesis (GO:0048514)|cellular response to UV (GO:0034644)|cytokine-mediated signaling pathway (GO:0019221)|development involved in symbiotic interaction (GO:0044111)|endocardial cushion development (GO:0003197)|glucocorticoid receptor signaling pathway (GO:0042921)|lysosomal transport (GO:0007041)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010768)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|neuromuscular junction development (GO:0007528)|neuron projection development (GO:0031175)|outflow tract morphogenesis (GO:0003151)|positive regulation of nucleocytoplasmic transport (GO:0046824)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|progesterone receptor signaling pathway (GO:0050847)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein targeting to lysosome (GO:0006622)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|receptor catabolic process (GO:0032801)|receptor internalization (GO:0031623)|regulation of dendrite morphogenesis (GO:0048814)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of synapse organization (GO:0050807)|response to calcium ion (GO:0051592)|T cell activation (GO:0042110)|transmission of virus (GO:0019089)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	apicolateral plasma membrane (GO:0016327)|cell cortex (GO:0005938)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	beta-2 adrenergic receptor binding (GO:0031698)|ligase activity (GO:0016874)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)|proline-rich region binding (GO:0070064)|protein domain specific binding (GO:0019904)|RNA polymerase binding (GO:0070063)|sodium channel inhibitor activity (GO:0019871)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TAATCCAGATGAAGTAGGCAA	0.383																																						uc002adj.2		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(2296-2298)TCA>TTA		neural precursor cell expressed, developmentally							127.0	107.0	114.0					15																	56144728		2193	4292	6485	SO:0001583	missense	4734				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity	g.chr15:56144728G>A	D42055	CCDS10156.1, CCDS45265.1, CCDS61643.1, CCDS61644.1	15q	2012-02-23	2012-02-23		ENSG00000069869	ENSG00000069869			7727	protein-coding gene	gene with protein product	"""receptor-potentiating factor 1"""	602278	"""neural precursor cell expressed, developmentally down-regulated 4"""			9073511, 8649367	Standard	XR_243101		Approved	KIAA0093, MGC176705, NEDD4-1, RPF1	uc002adi.3	P46934	OTTHUMG00000132015	ENST00000508342.1:c.2297C>T	15.37:g.56144728G>A	ENSP00000424827:p.Ser766Leu					NEDD4_uc002adl.2_Missense_Mutation_p.S347L|NEDD4_uc002adi.2_Missense_Mutation_p.S694L|NEDD4_uc010ugj.1_Missense_Mutation_p.S750L|NEDD4_uc010bfm.2_Missense_Mutation_p.S749L|NEDD4_uc002adk.2_RNA	p.S766L	NM_198400	NP_006145	P46934	NEDD4_HUMAN		all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)	9	2597	-			766			Mediates interaction with TNIK (By similarity).		A1KY35|A6ND72|A7MD29|B4E2R7|B7ZM59|B7ZM60|B9EGN5|D6RF89	Missense_Mutation	SNP	ENST00000508342.1	37	c.2297C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022338|5.022338	0.93462|0.93462	.|.	.|.	ENSG00000069869|ENSG00000069869	ENST00000508871|ENST00000508342;ENST00000435532;ENST00000338963;ENST00000506154	.|T;T;T;T	.|0.22134	.|1.99;2.08;2.01;1.97	5.4|5.4	5.4|5.4	0.78164|0.78164	.|WW/Rsp5/WWP (2);	.|0.295721	.|0.33712	.|N	.|0.004628	T|T	0.30665|0.30665	0.0772|0.0772	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;P;D;P	.|0.56287	.|0.975;0.846;0.974;0.937	.|P;P;P;P	.|0.55455	.|0.736;0.557;0.776;0.66	T|T	0.01914|0.01914	-1.1248|-1.1248	5|10	.|0.56958	.|D	.|0.05	.|.	18.1866|18.1866	0.89795|0.89795	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|750;347;766;694	.|P46934-2;P46934-4;P46934;P46934-3	.|.;.;NEDD4_HUMAN;.	Y|L	357|766;347;694;750	.|ENSP00000424827:S766L;ENSP00000410613:S347L;ENSP00000345530:S694L;ENSP00000422705:S750L	.|ENSP00000345530:S694L	H|S	-|-	1|2	0|0	NEDD4|NEDD4	53932020|53932020	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.008000|9.008000	0.93601|0.93601	2.529000|2.529000	0.85273|0.85273	0.555000|0.555000	0.69702|0.69702	CAT|TCA		0.383	NEDD4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000359817.1	NM_198400		4	46	0	0	0	0	4	46				
IQCH	64799	broad.mit.edu	37	15	67629376	67629376	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:67629376C>A	ENST00000335894.4	+	5	517	c.451C>A	c.(451-453)Cat>Aat	p.H151N	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	151										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GCCATCTTCTCATTGCACAGA	0.373																																						uc002aqo.1		NA																	0				skin(3)|ovary(1)	4						c.(451-453)CAT>AAT		IQ motif containing H isoform 1							150.0	144.0	146.0					15																	67629376		2201	4299	6500	SO:0001583	missense	64799							g.chr15:67629376C>A	AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.451C>A	15.37:g.67629376C>A	ENSP00000336861:p.His151Asn					IQCH_uc010ujv.1_Intron|IQCH_uc002aqn.1_Intron|IQCH_uc002aqq.1_Intron|IQCH_uc002aqp.1_Intron	p.H151N	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN		Colorectal(3;0.0856)	5	498	+			151					A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	ENST00000335894.4	37	c.451C>A	CCDS32273.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.585628	0.00872	.	.	ENSG00000103599	ENST00000335894	T	0.39592	1.07	5.77	3.88	0.44766	.	0.335723	0.33959	N	0.004395	T	0.28632	0.0709	L	0.39020	1.185	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06197	-1.0840	10	0.12766	T	0.61	-19.7113	9.1126	0.36737	0.0:0.7747:0.1472:0.078	.	151	Q86VS3	IQCH_HUMAN	N	151	ENSP00000336861:H151N	ENSP00000336861:H151N	H	+	1	0	IQCH	65416430	0.920000	0.31207	0.060000	0.19600	0.007000	0.05969	1.769000	0.38522	0.895000	0.36342	-0.181000	0.13052	CAT		0.373	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256969.1	NM_022784		12	99	1	0	0.00136819	0.00145615	12	99				
ADAMTS7	11173	broad.mit.edu	37	15	79092834	79092834	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:79092834G>A	ENST00000388820.4	-	2	366	c.156C>T	c.(154-156)gaC>gaT	p.D52D	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	52					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCCCCCCGCGTCGACTCGAA	0.677																																						uc002bej.3		NA																	0					0						c.(154-156)GAC>GAT		ADAM metallopeptidase with thrombospondin type 1							13.0	13.0	13.0					15																	79092834		2190	4280	6470	SO:0001819	synonymous_variant	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79092834G>A	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.156C>T	15.37:g.79092834G>A						ADAMTS7_uc010und.1_Silent_p.D52D|ADAMTS7_uc002bek.1_Silent_p.D52D	p.D52D	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			2	367	-			52					Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	c.156C>T	CCDS32303.1																																																																																				0.677	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		3	20	0	0	0	0	3	20				
CRTC3	64784	broad.mit.edu	37	15	91172509	91172509	+	Silent	SNP	C	C	T	rs367598955		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:91172509C>T	ENST00000268184.6	+	11	1015	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	CRTC3_ENST00000420329.2_Silent_p.L337L|RP11-387D10.2_ENST00000559531.1_RNA			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	337					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGCCACGCTCAATAAGACTG	0.448			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NA		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1009-1011)CTC>CTT		transducer of regulated CREB protein 3 isoform		C	,	0,4396		0,0,2198	148.0	143.0	145.0		1011,1011	4.2	1.0	15		145	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	CRTC3	NM_001042574.1,NM_022769.3	,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,	337/619,337/620	91172509	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172509C>T		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1011C>T	15.37:g.91172509C>T						CRTC3_uc002bpo.2_Silent_p.L337L	p.L337L	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1117	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		337					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	37	c.1011C>T	CCDS32331.1																																																																																				0.448	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769		17	126	0	0	0	0	17	126				
ACSM2B	348158	broad.mit.edu	37	16	20554519	20554519	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:20554519G>C	ENST00000329697.6	-	11	1515	c.1347C>G	c.(1345-1347)atC>atG	p.I449M	ACSM2B_ENST00000567001.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000567288.1_5'Flank|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I370M	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	449					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CTTCATCTTTGATTCCCCGGT	0.498																																						uc002dhj.3		NA																	0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1345-1347)ATC>ATG		acyl-CoA synthetase medium-chain family member							204.0	227.0	219.0					16																	20554519		2200	4299	6499	SO:0001583	missense	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20554519G>C	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1347C>G	16.37:g.20554519G>C	ENSP00000327453:p.Ile449Met					ACSM2B_uc002dhk.3_Missense_Mutation_p.I449M|ACSM2B_uc010bwf.1_Missense_Mutation_p.I449M	p.I449M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			12	1557	-			449					Q86YT1	Missense_Mutation	SNP	ENST00000329697.6	37	c.1347C>G	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	2.978	-0.211042	0.06140	.	.	ENSG00000066813	ENST00000329697	T	0.40476	1.03	3.1	0.872	0.19113	AMP-dependent synthetase/ligase (1);	0.330202	0.21465	N	0.074085	T	0.28034	0.0691	N	0.25144	0.715	0.80722	D	1	B;B	0.32302	0.363;0.363	B;B	0.40782	0.34;0.34	T	0.04855	-1.0922	10	0.33141	T	0.24	-5.9118	3.7949	0.08736	0.2014:0.0:0.4707:0.3279	.	449;449	A8K051;Q68CK6	.;ACS2B_HUMAN	M	449	ENSP00000327453:I449M	ENSP00000327453:I449M	I	-	3	3	ACSM2B	20462020	0.002000	0.14202	0.988000	0.46212	0.220000	0.24768	-0.292000	0.08332	0.113000	0.18004	0.508000	0.49915	ATC		0.498	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		15	262	0	0	0	0	15	262				
ARMC5	79798	broad.mit.edu	37	16	31477278	31477278	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr16:31477278G>A	ENST00000563544.1	+	6	2518	c.1972G>A	c.(1972-1974)Gcg>Acg	p.A658T	ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000268314.4_Missense_Mutation_p.A658T|ARMC5_ENST00000538189.1_Missense_Mutation_p.A690T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A753T|ARMC5_ENST00000412665.2_Missense_Mutation_p.A302T			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	658										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGTGGCCTGCGCGCTGACCCT	0.652																																						uc002ecc.2		NA																	0				pancreas(1)	1						c.(1972-1974)GCG>ACG		armadillo repeat containing 5 isoform a							50.0	61.0	58.0					16																	31477278		2183	4290	6473	SO:0001583	missense	79798						binding	g.chr16:31477278G>A	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.1972G>A	16.37:g.31477278G>A	ENSP00000456877:p.Ala658Thr					ARMC5_uc010vfn.1_Missense_Mutation_p.A753T|ARMC5_uc010vfo.1_Missense_Mutation_p.A690T|ARMC5_uc002eca.3_3'UTR|ARMC5_uc010vfp.1_Missense_Mutation_p.A466T|ARMC5_uc002ecb.2_Missense_Mutation_p.A658T	p.A658T	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN			5	2501	+			658					Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	c.1972G>A	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.920423	0.92249	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000412665	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.52256	0.1723	L	0.55481	1.735	0.45852	D	0.998718	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.99;0.993;0.993;0.989	T	0.51926	-0.8643	10	0.87932	D	0	-37.0661	17.0314	0.86462	0.0:0.0:1.0:0.0	.	690;690;753;658	B4DH27;F5H156;B4DIU9;Q96C12	.;.;.;ARMC5_HUMAN	T	753;690;658;302	ENSP00000386125:A753T;ENSP00000443995:A690T;ENSP00000268314:A658T;ENSP00000400183:A302T	ENSP00000268314:A658T	A	+	1	0	ARMC5	31384779	1.000000	0.71417	0.476000	0.27291	0.856000	0.48823	5.800000	0.69108	2.620000	0.88729	0.655000	0.94253	GCG		0.652	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432847.1	NM_024742		12	71	0	0	0	0	12	71				
ACAP1	9744	broad.mit.edu	37	17	7253489	7253489	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7253489C>G	ENST00000158762.3	+	20	2211	c.2005C>G	c.(2005-2007)Cga>Gga	p.R669G	ACAP1_ENST00000574499.1_5'Flank|ACAP1_ENST00000570504.1_5'Flank|KCTD11_ENST00000333751.3_5'Flank|ACAP1_ENST00000571471.1_5'Flank|ACAP1_ENST00000575415.1_5'Flank|RP11-542C16.1_ENST00000572417.1_RNA	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	669	Required for interaction with GULP1.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)	endosome (GO:0005768)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.R669G(1)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTGGGGGCTCGAGACTCTGA	0.637																																						uc002ggd.2		NA																	1	Substitution - Missense(1)		cervix(1)	breast(2)|large_intestine(1)	3						c.(2005-2007)CGA>GGA		centaurin beta1							75.0	78.0	77.0					17																	7253489		2203	4300	6503	SO:0001583	missense	9744				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	g.chr17:7253489C>G	D30758	CCDS11101.1	17p13.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000072818	ENSG00000072818		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16467	protein-coding gene	gene with protein product		607763	"""centaurin, beta 1"""	CENTB1		11050434, 11062263	Standard	NM_014716		Approved	KIAA0050	uc002ggd.2	Q15027	OTTHUMG00000102199	ENST00000158762.3:c.2005C>G	17.37:g.7253489C>G	ENSP00000158762:p.Arg669Gly					KCTD11_uc002gge.3_5'Flank	p.R669G	NM_014716	NP_055531	Q15027	ACAP1_HUMAN			20	2211	+			669			Required for interaction with GULP1.		Q53XN9	Missense_Mutation	SNP	ENST00000158762.3	37	c.2005C>G	CCDS11101.1	.	.	.	.	.	.	.	.	.	.	C	10.85	1.466072	0.26335	.	.	ENSG00000072818	ENST00000158762	T	0.68479	-0.33	5.26	4.29	0.51040	Ankyrin repeat-containing domain (3);	1.035270	0.07590	N	0.921741	T	0.63803	0.2542	L	0.58925	1.835	0.24617	N	0.993694	P	0.36354	0.549	B	0.39339	0.297	T	0.52003	-0.8633	10	0.23302	T	0.38	.	7.2639	0.26219	0.0:0.7395:0.171:0.0895	.	669	Q15027	ACAP1_HUMAN	G	669	ENSP00000158762:R669G	ENSP00000158762:R669G	R	+	1	2	ACAP1	7194213	0.004000	0.15560	0.442000	0.26870	0.967000	0.64934	0.863000	0.27913	1.441000	0.47550	0.448000	0.29417	CGA		0.637	ACAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220049.4	NM_014716		8	113	0	0	0	0	8	113				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	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		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(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	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		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.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|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.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	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	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		4	31	0	0	0	0	4	31				
CYB5D1	124637	broad.mit.edu	37	17	7761549	7761549	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:7761549G>A	ENST00000332439.4	+	1	249	c.97G>A	c.(97-99)Gac>Aac	p.D33N	LSMD1_ENST00000575771.1_5'Flank|LSMD1_ENST00000575071.1_5'Flank|CYB5D1_ENST00000571846.1_Missense_Mutation_p.D33N|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000575208.1_5'Flank|LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000335155.5_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	33	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.						heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				CAGGCCCGAAGACCTCTGGGT	0.617											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjb.3		NA																	0				skin(1)	1						c.(97-99)GAC>AAC		cytochrome b5 domain containing 1							81.0	83.0	82.0					17																	7761549		2203	4300	6503	SO:0001583	missense	124637						heme binding	g.chr17:7761549G>A	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.97G>A	17.37:g.7761549G>A	ENSP00000331479:p.Asp33Asn		OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Missense_Mutation_p.D33N	p.D33N	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN			1	486	+		all_cancers(10;0.11)|Prostate(122;0.219)	33			Cytochrome b5 heme-binding.		D3DTQ8|Q96DM7	Missense_Mutation	SNP	ENST00000332439.4	37	c.97G>A	CCDS11123.1	.	.	.	.	.	.	.	.	.	.	G	37	6.090400	0.97271	.	.	ENSG00000182224	ENST00000332439;ENST00000541486	T	0.80033	-1.33	5.66	5.66	0.87406	Cytochrome b5 (4);	0.000000	0.85682	D	0.000000	D	0.89801	0.6820	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90293	0.4324	10	0.72032	D	0.01	0.1657	18.5114	0.90917	0.0:0.0:1.0:0.0	.	33;33	Q6P9G0-2;Q6P9G0	.;CB5D1_HUMAN	N	33	ENSP00000331479:D33N	ENSP00000331479:D33N	D	+	1	0	CYB5D1	7702274	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	8.335000	0.90031	2.681000	0.91329	0.462000	0.41574	GAC		0.617	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1	NM_144607		7	95	0	0	0	0	7	95				
FLCN	201163	broad.mit.edu	37	17	17120452	17120452	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:17120452G>A	ENST00000285071.4	-	10	1561	c.1107C>T	c.(1105-1107)ctC>ctT	p.L369L	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.H77Y	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	369					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGTTCCCCATGAGAACGTGCC	0.522									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3		NA																	0				thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(1105-1107)CTC>CTT		folliculin isoform 1							97.0	85.0	89.0					17																	17120452		2203	4300	6503	SO:0001819	synonymous_variant	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17120452G>A	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1107C>T	17.37:g.17120452G>A						PLD6_uc010cpn.2_RNA	p.L369L	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			10	1611	-			369					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Silent	SNP	ENST00000285071.4	37	c.1107C>T	CCDS32579.1																																																																																				0.522	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		5	36	0	0	0	0	5	36				
FAM83G	644815	broad.mit.edu	37	17	18881375	18881375	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:18881375G>A	ENST00000388995.6	-	5	1827	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P535L|FAM83G_ENST00000345041.4_Missense_Mutation_p.P535L|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	535					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCATTCTGGGGAGCTTCCTC	0.647																																						uc002guw.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1603-1605)CCC>CTC		hypothetical protein LOC644815							42.0	45.0	44.0					17																	18881375		1912	4098	6010	SO:0001583	missense	644815							g.chr17:18881375G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1604C>T	17.37:g.18881375G>A	ENSP00000373647:p.Pro535Leu					SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	p.P535L	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN			5	1771	-			535					Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	c.1604C>T	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	G	2.248	-0.372145	0.05034	.	.	ENSG00000188522	ENST00000388995;ENST00000345041	T;T	0.11604	2.76;2.76	5.14	3.11	0.35812	.	1.477610	0.04204	N	0.330574	T	0.16085	0.0387	M	0.65975	2.015	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.28618	-1.0038	10	0.39692	T	0.17	-2.1959	8.9655	0.35874	0.2304:0.0:0.7696:0.0	.	535	A6ND36	FA83G_HUMAN	L	535	ENSP00000373647:P535L;ENSP00000343279:P535L	ENSP00000343279:P535L	P	-	2	0	FAM83G	18822100	0.004000	0.15560	0.014000	0.15608	0.158000	0.22134	1.429000	0.34903	1.418000	0.47098	0.655000	0.94253	CCC		0.647	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			6	110	0	0	0	0	6	110				
NF1	4763	broad.mit.edu	37	17	29559140	29559140	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:29559140C>T	ENST00000358273.4	+	25	3630	c.3247C>T	c.(3247-3249)Ctc>Ttc	p.L1083F	NF1_ENST00000356175.3_Missense_Mutation_p.L1083F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1083					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTAGCTGGTCTCCCTCTGCA	0.353			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.2		NA	yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		12	Whole gene deletion(8)|Unknown(4)	p.?(2)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(3247-3249)CTC>TTC		neurofibromin isoform 1							52.0	51.0	51.0					17																	29559140		2203	4300	6503	SO:0001583	missense	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29559140C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3247C>T	17.37:g.29559140C>T	ENSP00000351015:p.Leu1083Phe	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.L1083F|NF1_uc010csn.1_Missense_Mutation_p.L943F|NF1_uc002hgi.1_Missense_Mutation_p.L116F	p.L1083F	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	25	3580	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	1083					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.3247C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.864463	0.91511	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.30981	1.7;1.86;1.51	5.35	5.35	0.76521	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	M	0.87456	2.885	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.997;0.999	D;D;D;D	0.78314	0.989;0.991;0.986;0.985	T	0.69892	-0.5022	10	0.72032	D	0.01	.	19.0592	0.93080	0.0:1.0:0.0:0.0	.	1083;133;1083;1083	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	F	1083;1083;749	ENSP00000351015:L1083F;ENSP00000348498:L1083F;ENSP00000389907:L749F	ENSP00000348498:L1083F	L	+	1	0	NF1	26583266	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.566000	0.60843	2.499000	0.84300	0.484000	0.47621	CTC		0.353	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	24	0	0	0	0	4	24				
MYO1D	4642	broad.mit.edu	37	17	31094700	31094700	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:31094700T>A	ENST00000318217.5	-	7	1089	c.785A>T	c.(784-786)gAg>gTg	p.E262V	MYO1D_ENST00000579584.1_Missense_Mutation_p.E262V|MYO1D_ENST00000583621.1_Missense_Mutation_p.E262V|MYO1D_ENST00000394649.4_Missense_Mutation_p.E174V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	262	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTGGATCTCCTCAGGTTTGAA	0.423																																						uc002hho.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(784-786)GAG>GTG		myosin ID							115.0	95.0	102.0					17																	31094700		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31094700T>A	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.785A>T	17.37:g.31094700T>A	ENSP00000324527:p.Glu262Val					MYO1D_uc002hhp.1_Missense_Mutation_p.E262V|MYO1D_uc010wcb.1_Missense_Mutation_p.E262V	p.E262V	NM_015194	NP_056009	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		7	797	-			262			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.785A>T	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433841	0.83776	.	.	ENSG00000176658	ENST00000318217	T	0.74002	-0.8	6.0	4.93	0.64822	Myosin head, motor domain (2);	0.000000	0.39759	U	0.001275	D	0.84848	0.5563	M	0.83118	2.625	0.54753	D	0.999988	D;D	0.57899	0.981;0.966	D;P	0.66602	0.945;0.901	D	0.85514	0.1199	10	0.62326	D	0.03	.	10.2586	0.43412	0.0:0.0776:0.0:0.9224	.	173;262	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	262	ENSP00000324527:E262V	ENSP00000324527:E262V	E	-	2	0	MYO1D	28118813	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	5.959000	0.70339	1.101000	0.41535	0.533000	0.62120	GAG		0.423	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			6	43	0	0	0	0	6	43				
LPO	4025	broad.mit.edu	37	17	56320355	56320355	+	Silent	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:56320355C>G	ENST00000262290.4	+	2	331	c.15C>G	c.(13-15)ctC>ctG	p.L5L	LPO_ENST00000543544.1_5'UTR|LPO_ENST00000582328.1_Silent_p.L5L|LPO_ENST00000421678.2_Silent_p.L5L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	5					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GGGTCCTTCTCCATCTCCCAG	0.537																																						uc002ivt.2		NA																	0				ovary(1)|breast(1)	2						c.(13-15)CTC>CTG		lactoperoxidase isoform 1 preproprotein							211.0	184.0	193.0					17																	56320355		2203	4300	6503	SO:0001819	synonymous_variant	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56320355C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.15C>G	17.37:g.56320355C>G						LPO_uc010dco.2_Silent_p.L5L|LPO_uc010wnr.1_Silent_p.L5L|LPO_uc010wns.1_5'UTR|LPO_uc010dcp.2_Silent_p.L5L	p.L5L	NM_006151	NP_006142	P22079	PERL_HUMAN			2	331	+			5					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	ENST00000262290.4	37	c.15C>G	CCDS32689.1																																																																																				0.537	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1			11	195	0	0	0	0	11	195				
TLK2	11011	broad.mit.edu	37	17	60598197	60598197	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:60598197G>C	ENST00000326270.9	+	3	413	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	TLK2_ENST00000542523.1_Missense_Mutation_p.E49Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E49Q|TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000346027.5_Missense_Mutation_p.E49Q	NM_001284333.1	NP_001271262.1	Q86UE8	TLK2_HUMAN	tousled-like kinase 2	49					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|intracellular signal transduction (GO:0035556)|negative regulation of autophagy (GO:0010507)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	intermediate filament (GO:0005882)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GAGTGATAAAGAAGTAGAGGT	0.413																																						uc010ddp.2		NA																	0				stomach(1)|kidney(1)	2						c.(145-147)GAA>CAA		tousled-like kinase 2 isoform A							126.0	109.0	115.0					17																	60598197		2203	4300	6503	SO:0001583	missense	11011				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr17:60598197G>C	AB004884	CCDS11633.1, CCDS45753.1, CCDS62283.1	17q23	2008-07-18							11842	protein-coding gene	gene with protein product		608439				9427565, 10523312	Standard	NM_006852		Approved	PKU-ALPHA, MGC44450	uc002izz.4	Q86UE8		ENST00000326270.9:c.145G>C	17.37:g.60598197G>C	ENSP00000316512:p.Glu49Gln					TLK2_uc002izx.3_5'UTR|TLK2_uc002izz.3_Missense_Mutation_p.E49Q|TLK2_uc002jaa.3_Missense_Mutation_p.E49Q|TLK2_uc010wpd.1_Missense_Mutation_p.E49Q	p.E49Q	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN			3	413	+			49					D3DU07|Q9UKI7|Q9Y4F7	Missense_Mutation	SNP	ENST00000326270.9	37	c.145G>C		.	.	.	.	.	.	.	.	.	.	G	14.21	2.466969	0.43839	.	.	ENSG00000146872	ENST00000346027;ENST00000343388;ENST00000326270;ENST00000542523	D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32	5.37	5.37	0.77165	.	0.046574	0.85682	D	0.000000	D	0.87740	0.6253	M	0.75264	2.295	0.80722	D	1	P;B;B	0.35307	0.494;0.073;0.246	B;B;B	0.34138	0.176;0.068;0.17	D	0.88751	0.3250	10	0.87932	D	0	.	18.097	0.89493	0.0:0.0:1.0:0.0	.	49;49;49	Q86UE8;Q86UE8-3;Q86UE8-2	TLK2_HUMAN;.;.	Q	49	ENSP00000275780:E49Q;ENSP00000340800:E49Q;ENSP00000316512:E49Q;ENSP00000442311:E49Q	ENSP00000316512:E49Q	E	+	1	0	TLK2	57951929	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.728000	0.84847	2.511000	0.84671	0.591000	0.81541	GAA		0.413	TLK2-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000445140.1	NM_006852		6	79	0	0	0	0	6	79				
SOX9	6662	broad.mit.edu	37	17	70120527	70120527	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:70120527G>A	ENST00000245479.2	+	3	1901	c.1529G>A	c.(1528-1530)tGa>tAa	p.*510*		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	0					astrocyte fate commitment (GO:0060018)|branching involved in ureteric bud morphogenesis (GO:0001658)|cAMP-mediated signaling (GO:0019933)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to heparin (GO:0071504)|cellular response to interleukin-1 (GO:0071347)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|chondrocyte hypertrophy (GO:0003415)|chromatin remodeling (GO:0006338)|cochlea morphogenesis (GO:0090103)|cytoskeleton organization (GO:0007010)|endocardial cushion morphogenesis (GO:0003203)|endocrine pancreas development (GO:0031018)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in prostatic bud elongation (GO:0060517)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|heart valve development (GO:0003170)|heart valve formation (GO:0003188)|heart valve morphogenesis (GO:0003179)|intestinal epithelial structure maintenance (GO:0060729)|intrahepatic bile duct development (GO:0035622)|limb bud formation (GO:0060174)|lung epithelial cell differentiation (GO:0060487)|male germ-line sex determination (GO:0019100)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|metanephric nephron tubule formation (GO:0072289)|morphogenesis of a branching epithelium (GO:0061138)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of bone mineralization (GO:0030502)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune system process (GO:0002683)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of ossification (GO:0030279)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|notochord development (GO:0030903)|nucleosome assembly (GO:0006334)|oligodendrocyte differentiation (GO:0048709)|ossification (GO:0001503)|otic vesicle formation (GO:0030916)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extracellular matrix assembly (GO:1901203)|positive regulation of kidney development (GO:0090184)|positive regulation of male gonad development (GO:2000020)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein complex assembly (GO:0006461)|protein kinase B signaling (GO:0043491)|regulation of apoptotic process (GO:0042981)|regulation of branching involved in lung morphogenesis (GO:0061046)|regulation of cell adhesion (GO:0030155)|regulation of cell cycle process (GO:0010564)|regulation of cell proliferation (GO:0042127)|regulation of cell proliferation involved in tissue homeostasis (GO:0060784)|regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000794)|renal vesicle induction (GO:0072034)|retina development in camera-type eye (GO:0060041)|retinal rod cell differentiation (GO:0060221)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|tissue homeostasis (GO:0001894)|transcription from RNA polymerase II promoter (GO:0006366)|ureter morphogenesis (GO:0072197)|ureter smooth muscle cell differentiation (GO:0072193)|ureter urothelium development (GO:0072190)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|enhancer binding (GO:0035326)|enhancer sequence-specific DNA binding (GO:0001158)|pre-mRNA intronic binding (GO:0097157)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase activity (GO:0004672)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			ACTCGACCTTGAGGAGGCCTC	0.552																																					Pancreas(42;83 1041 2320 35205 39456)	uc002jiw.2		NA																	0					0						c.(1528-1530)TGA>TAA		transcription factor SOX9							44.0	45.0	45.0					17																	70120527		2203	4298	6501	SO:0001819	synonymous_variant	6662				cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr17:70120527G>A	S74506	CCDS11689.1	17q24.3	2013-10-17	2008-07-31		ENSG00000125398	ENSG00000125398		"""SRY (sex determining region Y)-boxes"""	11204	protein-coding gene	gene with protein product		608160	"""campomelic dysplasia, autosomal sex-reversal"""	CMD1, CMPD1		8348155	Standard	NM_000346		Approved	SRA1	uc002jiw.3	P48436	OTTHUMG00000166300	ENST00000245479.2:c.1529G>A	17.37:g.70120527G>A							p.*510*	NM_000346	NP_000337	P48436	SOX9_HUMAN	STAD - Stomach adenocarcinoma(260;0.119)		3	1901	+		Colorectal(1115;0.245)	510					Q53Y80	Silent	SNP	ENST00000245479.2	37	c.1529G>A	CCDS11689.1																																																																																				0.552	SOX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389032.1	NM_000346		5	80	0	0	0	0	5	80				
ITGB4	3691	broad.mit.edu	37	17	73729739	73729739	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:73729739C>T	ENST00000200181.3	+	13	1810	c.1623C>T	c.(1621-1623)ttC>ttT	p.F541F	ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.F541F|ITGB4_ENST00000449880.2_Silent_p.F541F|ITGB4_ENST00000579662.1_Silent_p.F541F|ITGB4_ENST00000339591.3_Silent_p.F541F	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	541	Cysteine-rich tandem repeats.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGACAACTTCCAGTGTCCCC	0.612																																						uc002jpg.2		NA																	0				lung(4)	4						c.(1621-1623)TTC>TTT		integrin beta 4 isoform 1 precursor							83.0	66.0	72.0					17																	73729739		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73729739C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.1623C>T	17.37:g.73729739C>T						ITGB4_uc002jph.2_Silent_p.F541F|ITGB4_uc010dgo.2_Silent_p.F541F|ITGB4_uc002jpi.3_Silent_p.F541F|ITGB4_uc010dgp.1_Silent_p.F541F|ITGB4_uc002jpj.2_Silent_p.F541F|ITGB4_uc010wsh.1_Silent_p.F96F	p.F541F	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		13	1810	+	all_cancers(13;1.5e-07)		541			II.|Extracellular (Potential).|Cysteine-rich tandem repeats.		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.1623C>T	CCDS11727.1																																																																																				0.612	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			4	42	0	0	0	0	4	42				
QRICH2	84074	broad.mit.edu	37	17	74287504	74287504	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:74287504G>A	ENST00000262765.5	-	4	2985	c.2806C>T	c.(2806-2808)Ctc>Ttc	p.L936F		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	936										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTCAAAGAGAGAGAAAGCA	0.507																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(2806-2808)CTC>TTC		glutamine rich 2							93.0	65.0	75.0					17																	74287504		2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74287504G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.2806C>T	17.37:g.74287504G>A	ENSP00000262765:p.Leu936Phe					QRICH2_uc010wsz.1_Missense_Mutation_p.L862F|QRICH2_uc010dgw.1_Intron	p.L936F	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	2986	-			936					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.2806C>T	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	G	7.800	0.713500	0.15306	.	.	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.09445	2.98	3.91	-7.82	0.01205	.	.	.	.	.	T	0.06826	0.0174	N	0.19112	0.55	0.09310	N	1	P;P	0.50443	0.935;0.834	P;P	0.49708	0.62;0.483	T	0.11251	-1.0595	9	0.10111	T	0.7	.	7.4217	0.27075	0.0:0.3429:0.4542:0.2029	.	936;936	B5MD94;Q9H0J4	.;QRIC2_HUMAN	F	936	ENSP00000262765:L936F	ENSP00000262765:L936F	L	-	1	0	QRICH2	71799099	0.000000	0.05858	0.000000	0.03702	0.064000	0.16182	-1.532000	0.02217	-1.249000	0.02500	0.313000	0.20887	CTC		0.507	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		6	58	0	0	0	0	6	58				
TNRC6C	57690	broad.mit.edu	37	17	76060832	76060832	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr17:76060832G>A	ENST00000588061.1	+	6	3152	c.2425G>A	c.(2425-2427)Gtt>Att	p.V809I	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V809I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V806I|RNU6-625P_ENST00000459412.1_RNA|TNRC6C_ENST00000335749.4_Missense_Mutation_p.V806I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V809I			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	809	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AATGCCTAATGTTCACTCAAA	0.458																																						uc002jud.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2425-2427)GTT>ATT		trinucleotide repeat containing 6C isoform 2							68.0	69.0	69.0					17																	76060832		1854	4112	5966	SO:0001583	missense	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76060832G>A	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.2425G>A	17.37:g.76060832G>A	ENSP00000468647:p.Val809Ile					TNRC6C_uc002juf.2_Missense_Mutation_p.V806I|TNRC6C_uc002jue.2_Missense_Mutation_p.V806I	p.V809I	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		5	3025	+			809			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	37	c.2425G>A	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.402202	0.42613	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.15718	2.4;2.42;2.42;2.4	5.66	3.68	0.42216	.	0.416736	0.25484	N	0.030343	T	0.18215	0.0437	L	0.60455	1.87	0.36211	D	0.851363	B;B;B	0.15930	0.002;0.015;0.006	B;B;B	0.15870	0.004;0.009;0.014	T	0.07654	-1.0761	10	0.33141	T	0.24	-7.6659	11.884	0.52592	0.1411:0.0:0.8589:0.0	.	806;809;809	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	I	809;806;806;809;809;806	ENSP00000336783:V806I;ENSP00000301624:V809I;ENSP00000440310:V809I;ENSP00000442421:V806I	ENSP00000301624:V809I	V	+	1	0	TNRC6C	73572427	0.991000	0.36638	0.281000	0.24762	0.995000	0.86356	2.925000	0.48884	0.750000	0.32877	0.655000	0.94253	GTT		0.458	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		6	68	0	0	0	0	6	68				
MTCL1	23255	broad.mit.edu	37	18	8718593	8718593	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:8718593G>C	ENST00000306329.11	+	2	1225	c.1225G>C	c.(1225-1227)Gag>Cag	p.E409Q	SOGA2_ENST00000400050.3_Missense_Mutation_p.E49Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E49Q|SOGA2_ENST00000306285.7_5'UTR|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000359865.3_Missense_Mutation_p.E49Q																							GAAAGTGGCTGAGACGGGTCA	0.577																																						uc002knr.2		NA																	0					0						c.(145-147)GAG>CAG		hypothetical protein LOC23255							116.0	98.0	104.0					18																	8718593		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8718593G>C																												ENST00000306329.11:c.1225G>C	18.37:g.8718593G>C	ENSP00000305027:p.Glu409Gln					KIAA0802_uc002knq.2_Missense_Mutation_p.E49Q	p.E49Q	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			3	287	+			400						Missense_Mutation	SNP	ENST00000306329.11	37	c.145G>C		.	.	.	.	.	.	.	.	.	.	G	3.850	-0.031975	0.07543	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050	D;D;D	0.84800	-1.9;-1.9;-1.9	5.01	4.13	0.48395	.	0.138241	0.33572	N	0.004777	T	0.59390	0.2190	N	0.01289	-0.905	0.80722	D	1	B	0.20671	0.047	B	0.16289	0.015	T	0.61322	-0.7086	10	0.02654	T	1	-28.7134	12.8958	0.58098	0.0:0.5546:0.4454:0.0	.	49	Q9Y4B5-3	.	Q	70;49;49;49	ENSP00000429556:E49Q;ENSP00000352927:E49Q;ENSP00000382924:E49Q	ENSP00000305027:E70Q	E	+	1	0	CCDC165	8708593	1.000000	0.71417	0.927000	0.36925	0.538000	0.34931	4.404000	0.59735	1.324000	0.45282	0.563000	0.77884	GAG		0.577	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			8	57	0	0	0	0	8	57				
VAPA	9218	broad.mit.edu	37	18	9931855	9931855	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:9931855C>G	ENST00000400000.2	+	2	383	c.128C>G	c.(127-129)tCg>tGg	p.S43W	VAPA_ENST00000340541.4_Missense_Mutation_p.S43W|VAPA_ENST00000584796.1_3'UTR	NM_003574.5|NM_194434.2	NP_003565.4|NP_919415.2	Q9P0L0	VAPA_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa	43	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.				cell death (GO:0008219)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein localization to endoplasmic reticulum (GO:0070972)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein heterodimerization activity (GO:0046982)|signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(1)|lung(2)|prostate(1)	4						CGAAATCCATCGGATAGAAAA	0.393																																						uc002kok.2		NA																	0					0						c.(127-129)TCG>TGG		vesicle-associated membrane protein-associated							88.0	91.0	90.0					18																	9931855		2087	4240	6327	SO:0001583	missense	9218				cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle	protein heterodimerization activity|signal transducer activity|structural molecule activity	g.chr18:9931855C>G		CCDS11847.2, CCDS11848.2	18p11.2	2008-07-28	2002-08-29		ENSG00000101558	ENSG00000101558			12648	protein-coding gene	gene with protein product		605703	"""VAMP (vesicle-associated membrane protein)-associated protein A (33kD)"""			9920726, 9657962	Standard	NM_003574		Approved	hVAP-33, VAP-A	uc002koj.3	Q9P0L0	OTTHUMG00000131603	ENST00000400000.2:c.128C>G	18.37:g.9931855C>G	ENSP00000382880:p.Ser43Trp					VAPA_uc002koj.2_Missense_Mutation_p.S43W	p.S43W	NM_194434	NP_919415	Q9P0L0	VAPA_HUMAN			2	427	+			43			Cytoplasmic (Potential).|MSP.		A6NDZ0|D3DUI3|O75453|Q5U0E7|Q9UBZ2	Missense_Mutation	SNP	ENST00000400000.2	37	c.128C>G	CCDS11848.2	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819140	0.90873	.	.	ENSG00000101558	ENST00000340541;ENST00000400000	T;T	0.76186	-1.0;-1.0	5.69	5.69	0.88448	PapD-like (2);	0.000000	0.85682	D	0.000000	D	0.91054	0.7185	H	0.95504	3.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.92840	0.6288	9	.	.	.	-10.3479	20.181	0.98201	0.0:1.0:0.0:0.0	.	43;43	Q9P0L0;Q9P0L0-2	VAPA_HUMAN;.	W	43	ENSP00000345656:S43W;ENSP00000382880:S43W	.	S	+	2	0	VAPA	9921855	1.000000	0.71417	0.968000	0.41197	0.994000	0.84299	7.770000	0.85390	2.840000	0.97914	0.655000	0.94253	TCG		0.393	VAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254490.1			4	90	0	0	0	0	4	90				
ZNF521	25925	broad.mit.edu	37	18	22805793	22805793	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:22805793C>A	ENST00000361524.3	-	4	2237	c.2089G>T	c.(2089-2091)Gag>Tag	p.E697*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E477*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E697*|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	697					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.E697*(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCACAACTCTCACAGATGTAA	0.453			T	PAX5	ALL																																	uc002kvk.2		NA		Dom	yes		18	18q11.2	25925	T	zinc finger protein 521			L	PAX5		ALL		1	Substitution - Nonsense(1)		lung(1)	ovary(4)|large_intestine(2)|lung(1)	7						c.(2089-2091)GAG>TAG		zinc finger protein 521							152.0	143.0	146.0					18																	22805793		2203	4300	6503	SO:0001587	stop_gained	25925				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	g.chr18:22805793C>A	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2089G>T	18.37:g.22805793C>A	ENSP00000354794:p.Glu697*					ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Nonsense_Mutation_p.E697*|ZNF521_uc002kvl.2_Nonsense_Mutation_p.E477*	p.E697*	NM_015461	NP_056276	Q96K83	ZN521_HUMAN			4	2336	-	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)		697			C2H2-type 16.		A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Nonsense_Mutation	SNP	ENST00000361524.3	37	c.2089G>T	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	38	7.191396	0.98125	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-36.2039	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	697;731;697	.	ENSP00000354794:E697X	E	-	1	0	ZNF521	21059791	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	GAG		0.453	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461		8	111	1	0	0.00307968	0.00326212	8	111				
CELF4	56853	broad.mit.edu	37	18	34833849	34833849	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr18:34833849C>T	ENST00000591282.1	-	12	1385	c.1386G>A	c.(1384-1386)atG>atA	p.M462I	CELF4_ENST00000334919.5_Missense_Mutation_p.M424I|CELF4_ENST00000591287.1_Missense_Mutation_p.M460I|CELF4_ENST00000601019.1_Missense_Mutation_p.M460I|CELF4_ENST00000420428.2_Missense_Mutation_p.M462I|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Missense_Mutation_p.M460I|CELF4_ENST00000603232.1_Missense_Mutation_p.M461I|CELF4_ENST00000412753.1_Missense_Mutation_p.M461I			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	462	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGAAGCCGTTCATGGCCTGGA	0.692																																						uc002lae.2		NA																	0				ovary(2)	2						c.(1384-1386)ATG>ATA		bruno-like 4, RNA binding protein isoform 1							63.0	62.0	62.0					18																	34833849		2203	4300	6503	SO:0001583	missense	56853				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr18:34833849C>T	AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.1386G>A	18.37:g.34833849C>T	ENSP00000464794:p.Met462Ile					CELF4_uc010dnd.1_Missense_Mutation_p.M460I|CELF4_uc002lag.2_Missense_Mutation_p.M424I|CELF4_uc002laf.2_Missense_Mutation_p.M456I	p.M462I	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN			12	1782	-			462			RRM 3.		Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Missense_Mutation	SNP	ENST00000591282.1	37	c.1386G>A	CCDS32818.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011789	0.93346	.	.	ENSG00000101489	ENST00000361795;ENST00000412753;ENST00000420428;ENST00000334919	T;T	0.17528	2.27;3.27	4.11	3.24	0.37175	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.47875	0.1469	M	0.91459	3.21	0.54753	D	0.999989	D;P;P;D	0.71674	0.998;0.571;0.929;0.978	D;B;P;P	0.87578	0.998;0.205;0.861;0.903	T	0.58008	-0.7712	10	0.87932	D	0	-2.1771	11.8087	0.52171	0.0:0.9139:0.0:0.0861	.	460;424;460;462	Q9BZC1-3;Q9BZC1-5;Q9BZC1-2;Q9BZC1	.;.;.;CELF4_HUMAN	I	462;461;460;424	ENSP00000406823:M461I;ENSP00000335631:M424I	ENSP00000335631:M424I	M	-	3	0	CELF4	33087847	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.393000	0.79851	0.957000	0.37930	0.473000	0.43528	ATG		0.692	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440892.1	NM_020180		9	75	0	0	0	0	9	75				
HMHA1	23526	broad.mit.edu	37	19	1073166	1073166	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:1073166G>A	ENST00000313093.2	+	3	671	c.440G>A	c.(439-441)cGc>cAc	p.R147H	HMHA1_ENST00000586866.1_Missense_Mutation_p.R151H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R163H|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000592335.1_Missense_Mutation_p.A28T|HMHA1_ENST00000590214.1_Missense_Mutation_p.R174H|HMHA1_ENST00000543365.1_Missense_Mutation_p.R30H	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	147					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCCCGCCGCCCGCGGGCC	0.647																																						uc002lqz.1		NA																	0				lung(1)	1						c.(439-441)CGC>CAC		minor histocompatibility antigen HA-1							39.0	46.0	44.0					19																	1073166		2201	4295	6496	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073166G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.440G>A	19.37:g.1073166G>A	ENSP00000316772:p.Arg147His					HMHA1_uc010xgd.1_Missense_Mutation_p.R163H|HMHA1_uc010xge.1_5'UTR|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_Missense_Mutation_p.R30H	p.R147H	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	671	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	147					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.440G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145047	0.57044	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000412039;ENST00000543365	T;T;T	0.32023	1.9;1.9;1.47	4.06	4.06	0.47325	.	0.000000	0.64402	D	0.000001	T	0.43322	0.1242	L	0.38953	1.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.95;0.997;0.92	T	0.17715	-1.0360	10	0.24483	T	0.36	-34.4558	14.7828	0.69779	0.0:0.0:1.0:0.0	.	163;30;147	F6QP70;F5H1R4;Q92619	.;.;HMHA1_HUMAN	H	163;147;147;141;30	ENSP00000439601:R163H;ENSP00000316772:R147H;ENSP00000438979:R30H	ENSP00000316772:R147H	R	+	2	0	HMHA1	1024166	1.000000	0.71417	0.975000	0.42487	0.365000	0.29674	5.609000	0.67661	1.796000	0.52611	0.491000	0.48974	CGC		0.647	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1			8	89	0	0	0	0	8	89				
PTPRS	5802	broad.mit.edu	37	19	5212212	5212212	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:5212212C>G	ENST00000587303.1	-	31	4918	c.4819G>C	c.(4819-4821)Gag>Cag	p.E1607Q	PTPRS_ENST00000348075.2_Missense_Mutation_p.E1569Q|PTPRS_ENST00000372412.4_Missense_Mutation_p.E1608Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1160Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1160Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1607Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1587Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1569Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1607	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	TTGATCCGCTCAAGCATGGCG	0.622																																						uc002mbv.2		NA																	0				large_intestine(2)|ovary(1)|central_nervous_system(1)	4						c.(4819-4821)GAG>CAG		protein tyrosine phosphatase, receptor type,							70.0	71.0	71.0					19																	5212212		2203	4300	6503	SO:0001583	missense	5802				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr19:5212212C>G	U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.4819G>C	19.37:g.5212212C>G	ENSP00000467537:p.Glu1607Gln					PTPRS_uc002mbu.1_Missense_Mutation_p.E1176Q|PTPRS_uc010xin.1_Missense_Mutation_p.E1149Q|PTPRS_uc002mbw.2_Missense_Mutation_p.E1569Q|PTPRS_uc002mbx.2_Missense_Mutation_p.E1164Q|PTPRS_uc002mby.2_Missense_Mutation_p.E1160Q	p.E1607Q	NM_002850	NP_002841	Q13332	PTPRS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	32	5053	-			1607			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1.		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	c.4819G>C	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025565	0.75390	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71	2.47	2.47	0.30058	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000003	T	0.81978	0.4937	N	0.12831	0.26	0.80722	D	1	D;P;D;D;D;D	0.89917	1.0;0.918;1.0;0.984;1.0;1.0	D;P;D;P;D;D	0.91635	0.999;0.754;0.999;0.744;0.999;0.999	D	0.84918	0.0852	10	0.87932	D	0	.	13.3072	0.60359	0.0:1.0:0.0:0.0	.	1189;1160;1164;1569;1607;1202	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	1202;1608;1607;1607;1598;1587;1569;1189;1164;1160	ENSP00000361489:E1608Q;ENSP00000349932:E1607Q;ENSP00000262963:E1587Q;ENSP00000269907:E1569Q;ENSP00000327313:E1160Q	ENSP00000262963:E1587Q	E	-	1	0	PTPRS	5163212	1.000000	0.71417	0.996000	0.52242	0.942000	0.58702	7.484000	0.81180	1.399000	0.46721	0.478000	0.44815	GAG		0.622	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2			4	84	0	0	0	0	4	84				
ICAM1	3383	broad.mit.edu	37	19	10394872	10394872	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:10394872C>T	ENST00000264832.3	+	4	1126	c.801C>T	c.(799-801)aaC>aaT	p.N267N	ICAM4_ENST00000380770.3_5'Flank|ICAM4_ENST00000340992.4_5'Flank|ICAM1_ENST00000423829.2_Silent_p.N45N|CTD-2369P2.5_ENST00000592893.1_RNA|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	267	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	CCTATGGCAACGACTCCTTCT	0.632																																						uc002mnq.2		NA																	0				ovary(1)	1						c.(799-801)AAC>AAT		intercellular adhesion molecule 1 precursor	Natalizumab(DB00108)|Simvastatin(DB00641)						81.0	61.0	68.0					19																	10394872		2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394872C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.801C>T	19.37:g.10394872C>T						ICAM1_uc010xle.1_Silent_p.N45N|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank	p.N267N	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		4	1120	+			267			Ig-like C2-type 3.|Extracellular (Potential).		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.801C>T	CCDS12231.1																																																																																				0.632	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1			9	77	0	0	0	0	9	77				
ZNF44	51710	broad.mit.edu	37	19	12384320	12384320	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:12384320C>T	ENST00000356109.5	-	5	1012	c.894G>A	c.(892-894)gaG>gaA	p.E298E	ZNF44_ENST00000355684.5_Silent_p.E250E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393																																						uc010xmj.1		NA																	0				ovary(1)	1						c.(892-894)GAG>GAA		zinc finger protein 44 isoform 1							115.0	122.0	120.0					19																	12384320		2199	4299	6498	SO:0001819	synonymous_variant	51710				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:12384320C>T	X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.894G>A	19.37:g.12384320C>T						ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Silent_p.E250E	p.E298E	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)	5	1099	-		Renal(1328;0.157)	298					B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	ENST00000356109.5	37	c.894G>A	CCDS54223.1																																																																																				0.393	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000344132.1	NM_016264		10	147	0	0	0	0	10	147				
NANOS3	342977	broad.mit.edu	37	19	13991286	13991286	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:13991286C>T	ENST00000397555.2	+	3	491	c.491C>T	c.(490-492)tCg>tTg	p.S164L	NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L|NANOS3_ENST00000591727.1_3'UTR	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	164					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S183L(1)		breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TCTGAGCCTTCGCCCTCCTGC	0.612											OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002mxj.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(547-549)TCG>TTG		nanos homolog 3							93.0	98.0	97.0					19																	13991286		2051	4186	6237	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13991286C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.491C>T	19.37:g.13991286C>T	ENSP00000380687:p.Ser164Leu		OREG0025300	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	691		p.S183L	NM_001098622	NP_001092092	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		2	661	+			164					Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.548C>T		.	.	.	.	.	.	.	.	.	.	C	14.51	2.556973	0.45590	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	T;T	0.48522	0.81;0.83	3.74	3.74	0.42951	.	2.131500	0.02598	N	0.100727	T	0.37433	0.1003	.	.	.	0.09310	N	1	P	0.42456	0.78	B	0.31547	0.132	T	0.44892	-0.9298	9	0.72032	D	0.01	-14.3856	11.3462	0.49563	0.0:1.0:0.0:0.0	.	183	P60323-2	.	L	183;164	ENSP00000341992:S183L;ENSP00000380687:S164L	ENSP00000341992:S183L	S	+	2	0	NANOS3	13852286	0.034000	0.19679	0.018000	0.16275	0.009000	0.06853	2.680000	0.46918	2.398000	0.81561	0.561000	0.74099	TCG		0.612	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_292819		6	54	0	0	0	0	6	54				
PKN1	5585	broad.mit.edu	37	19	14569134	14569134	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:14569134G>C	ENST00000242783.6	+	9	1531	c.1366G>C	c.(1366-1368)Gag>Cag	p.E456Q	PKN1_ENST00000342216.4_Missense_Mutation_p.E462Q|CTC-548K16.6_ENST00000589702.1_RNA	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	456	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTTGGACAATGAGAGGCATGA	0.582																																					NSCLC(185;2539 2965 10733 52867)	uc002myp.2		NA																	0				ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)	8						c.(1366-1368)GAG>CAG		protein kinase N1 isoform 2							76.0	82.0	80.0					19																	14569134		2070	4221	6291	SO:0001583	missense	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14569134G>C	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1366G>C	19.37:g.14569134G>C	ENSP00000242783:p.Glu456Gln					PKN1_uc002myq.2_Missense_Mutation_p.E462Q	p.E456Q	NM_002741	NP_002732	Q16512	PKN1_HUMAN			9	1534	+			456			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	ENST00000242783.6	37	c.1366G>C	CCDS42513.1	.	.	.	.	.	.	.	.	.	.	G	4.718	0.133567	0.09032	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.19105	2.17;2.17	4.17	3.09	0.35607	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.085063	0.48286	U	0.000186	T	0.06735	0.0172	N	0.03029	-0.43	0.35407	D	0.792115	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.27262	-1.0079	10	0.02654	T	1	-34.3126	9.5165	0.39109	0.0:0.4246:0.5754:0.0	.	462;456	Q16512-2;Q16512	.;PKN1_HUMAN	Q	456;462	ENSP00000242783:E456Q;ENSP00000343325:E462Q	ENSP00000242783:E456Q	E	+	1	0	PKN1	14430134	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	4.732000	0.62029	1.888000	0.54679	0.561000	0.74099	GAG		0.582	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		4	58	0	0	0	0	4	58				
HAUS5	23354	broad.mit.edu	37	19	36113850	36113850	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:36113850G>A	ENST00000203166.5	+	19	1882	c.1857G>A	c.(1855-1857)ctG>ctA	p.L619L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	619					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						AGTGGCGGCTGCGCTGGGTTC	0.652																																						uc002oam.1		NA																	0					0						c.(1855-1857)CTG>CTA		HAUS augmin-like complex, subunit 5							26.0	29.0	28.0					19																	36113850		1856	4076	5932	SO:0001819	synonymous_variant	23354				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr19:36113850G>A	AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1857G>A	19.37:g.36113850G>A							p.L619L	NM_015302	NP_056117	O94927	HAUS5_HUMAN			19	1908	+			619					B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	ENST00000203166.5	37	c.1857G>A	CCDS42550.1																																																																																				0.652	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459055.2			14	62	0	0	0	0	14	62				
SAMD4B	55095	broad.mit.edu	37	19	39867397	39867397	+	Missense_Mutation	SNP	G	G	A	rs571162695		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39867397G>A	ENST00000314471.6	+	9	2105	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R357H	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	357	SAM.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGAAGCTGCGTGAGAGACAG	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		20971	0.0		0.001	False		,,,				2504	0.0					uc002olb.2		NA																	0					0						c.(1069-1071)CGT>CAT		sterile alpha motif domain containing 4B							80.0	70.0	73.0					19																	39867397		2203	4300	6503	SO:0001583	missense	55095						protein binding	g.chr19:39867397G>A		CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1070G>A	19.37:g.39867397G>A	ENSP00000317224:p.Arg357His					SAMD4B_uc002ola.2_Missense_Mutation_p.R357H	p.R357H	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)		9	2105	+	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		357			SAM.		A5Z0M6|Q6P194	Missense_Mutation	SNP	ENST00000314471.6	37	c.1070G>A	CCDS33020.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563822	0.65651	.	.	ENSG00000179134	ENST00000314471;ENST00000429637	T	0.53206	0.63	4.49	4.49	0.54785	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.45677	0.1354	L	0.56280	1.765	0.53688	D	0.999973	P;P	0.43519	0.809;0.809	B;B	0.40228	0.323;0.323	T	0.55016	-0.8206	10	0.87932	D	0	.	15.052	0.71881	0.0:0.0:1.0:0.0	.	357;357	Q5PRF9;A5Z0M6	SMAG2_HUMAN;.	H	357	ENSP00000317224:R357H	ENSP00000317224:R357H	R	+	2	0	SAMD4B	44559237	1.000000	0.71417	0.976000	0.42696	0.829000	0.46940	5.014000	0.64029	2.489000	0.83994	0.563000	0.77884	CGT		0.557	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464467.1	NM_018028		8	36	0	0	0	0	8	36				
TIMM50	92609	broad.mit.edu	37	19	39971230	39971230	+	5'Flank	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:39971230C>T	ENST00000607714.1	+	0	0				TIMM50_ENST00000314349.4_Missense_Mutation_p.R16C|TIMM50_ENST00000544017.1_5'Flank|TIMM50_ENST00000599794.1_5'Flank			Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)						cellular protein metabolic process (GO:0044267)|mitochondrial membrane organization (GO:0007006)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein targeting to mitochondrion (GO:0006626)|release of cytochrome c from mitochondria (GO:0001836)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial inner membrane presequence translocase complex (GO:0005744)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)	interleukin-2 receptor binding (GO:0005134)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|ribonucleoprotein complex binding (GO:0043021)|RNA binding (GO:0003723)			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCCCTTCCTTCGCTGCGTCCT	0.562																																						uc002olu.1		NA																	0				ovary(1)	1						c.(46-48)CGC>TGC		translocase of inner mitochondrial membrane 50							80.0	74.0	76.0					19																	39971230		2203	4300	6503	SO:0001631	upstream_gene_variant	92609				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding	g.chr19:39971230C>T	BC009072	CCDS33023.1	19q13.2	2010-06-21	2006-04-04		ENSG00000105197	ENSG00000105197		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	23656	protein-coding gene	gene with protein product		607381	"""translocase of inner mitochondrial membrane 50 homolog (yeast)"""			12437925	Standard	NM_001001563		Approved	TIM50L	uc002olu.1	Q3ZCQ8			19.37:g.39971230C>T	Exception_encountered					TIMM50_uc002olt.1_RNA	p.R16C	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		1	179	+	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Error:Variant_position_missing_in_Q3ZCQ8_after_alignment					Q330K1|Q6QA00|Q96FJ5|Q96GY2|Q9H370	Missense_Mutation	SNP	ENST00000607714.1	37	c.46C>T		.	.	.	.	.	.	.	.	.	.	C	10.28	1.307167	0.23821	.	.	ENSG00000105197	ENST00000314349	.	.	.	3.34	-6.68	0.01778	.	.	.	.	.	T	0.19327	0.0464	N	0.08118	0	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.34104	-0.9842	7	.	.	.	-3.799	13.1448	0.59454	0.0:0.2049:0.0:0.7951	.	16	Q3ZCQ8-2	.	C	16	.	.	R	+	1	0	TIMM50	44663070	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.358000	0.01085	-2.168000	0.00778	-0.448000	0.05591	CGC		0.562	TIMM50-021	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470728.1	NM_001001563		8	82	0	0	0	0	8	82				
CD177	57126	broad.mit.edu	37	19	43865665	43865665	+	RNA	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:43865665T>C	ENST00000607109.1	-	0	300				CD177_ENST00000378009.4_RNA|CD177_ENST00000607517.1_RNA																							TTCAAGTGGCTCCCCCCGAAT	0.607																																						uc002owi.2		NA																	0				central_nervous_system(1)	1						c.(1015-1017)TCC>CCC		CD177 molecule precursor							15.0	20.0	18.0					19																	43865665		1804	4033	5837			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43865665T>C																													19.37:g.43865665T>C						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.S339P	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			9	1057	+		Prostate(69;0.00682)	339			UPAR/Ly6 2.			Missense_Mutation	SNP	ENST00000607109.1	37	c.1015T>C																																																																																					0.607	CTC-490G23.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000470165.1			3	40	0	0	0	0	3	40				
ZNF225	7768	broad.mit.edu	37	19	44635574	44635574	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:44635574C>A	ENST00000262894.6	+	5	1087	c.807C>A	c.(805-807)ttC>ttA	p.F269L	ZNF225_ENST00000590612.1_Missense_Mutation_p.F269L|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				GGAAGGCCTTCATTCATGATT	0.408																																						uc002oyj.1		NA																	0					0						c.(805-807)TTC>TTA		zinc finger protein 225							88.0	93.0	92.0					19																	44635574		2201	4295	6496	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635574C>A	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.807C>A	19.37:g.44635574C>A	ENSP00000262894:p.Phe269Leu					ZNF225_uc010eje.1_Missense_Mutation_p.F186L|ZNF225_uc010ejf.1_Missense_Mutation_p.F269L	p.F269L	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	1050	+		Prostate(69;0.0352)|all_neural(266;0.202)	269			C2H2-type 4.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.807C>A	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019031	0.75275	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.41065	1.01	2.63	0.45	0.16624	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61286	0.2335	M	0.83223	2.63	0.18873	N	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.46569	-0.9182	9	0.87932	D	0	.	6.0209	0.19628	0.0:0.6088:0.0:0.3912	.	269	Q9UK10	ZN225_HUMAN	L	269;233	ENSP00000262894:F269L	ENSP00000262894:F269L	F	+	3	2	ZNF225	49327414	0.000000	0.05858	0.009000	0.14445	0.969000	0.65631	-0.379000	0.07437	0.419000	0.25927	0.462000	0.41574	TTC		0.408	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1			10	88	1	0	0.00621372	0.00653537	10	88				
APOC1	341	broad.mit.edu	37	19	45419544	45419544	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:45419544C>G	ENST00000588750.1	+	4	481	c.156C>G	c.(154-156)atC>atG	p.I52M	APOC1_ENST00000252491.4_Missense_Mutation_p.I52M|APOC1_ENST00000588802.1_Missense_Mutation_p.I52M|APOC1_ENST00000592885.1_Missense_Mutation_p.I52M|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000586638.1_Missense_Mutation_p.I52M			P02654	APOC1_HUMAN	apolipoprotein C-I	52					cholesterol efflux (GO:0033344)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|high-density lipoprotein particle remodeling (GO:0034375)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of lipoprotein lipase activity (GO:0051005)|negative regulation of phosphatidylcholine catabolic process (GO:0010900)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|plasma lipoprotein particle remodeling (GO:0034369)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cholesterol esterification (GO:0010873)|regulation of cholesterol transport (GO:0032374)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)|very-low-density lipoprotein particle clearance (GO:0034447)	chylomicron (GO:0042627)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	fatty acid binding (GO:0005504)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipase inhibitor activity (GO:0004859)			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GGGAACTCATCAGCCGCATCA	0.587																																						uc002pac.1		NA																	0					0						c.(154-156)ATC>ATG		apolipoprotein C-I precursor							98.0	90.0	93.0					19																	45419544		2203	4300	6503	SO:0001583	missense	341				cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity	g.chr19:45419544C>G	X00570	CCDS12648.1	19q13.2	2013-01-24				ENSG00000130208		"""Apolipoproteins"""	607	protein-coding gene	gene with protein product		107710					Standard	NM_001645		Approved		uc002pae.1	P02654		ENST00000588750.1:c.156C>G	19.37:g.45419544C>G	ENSP00000465356:p.Ile52Met					APOC1_uc002pad.1_Missense_Mutation_p.I52M|APOC1_uc002pae.1_Missense_Mutation_p.I52M|APOC1_uc002paf.1_RNA	p.I52M	NM_001645	NP_001636	P02654	APOC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	4	408	+	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)	52					B2R526|Q6IB97	Missense_Mutation	SNP	ENST00000588750.1	37	c.156C>G	CCDS12648.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.379776	0.24944	.	.	ENSG00000130208	ENST00000252491	T	0.56444	0.46	4.33	-8.65	0.00870	.	1.388040	0.05084	N	0.483986	T	0.46367	0.1389	.	.	.	0.09310	N	1	P	0.44946	0.846	P	0.47402	0.546	T	0.58561	-0.7615	9	0.31617	T	0.26	-0.0724	8.9627	0.35856	0.4514:0.4307:0.0:0.1179	.	52	P02654	APOC1_HUMAN	M	52	ENSP00000252491:I52M	ENSP00000252491:I52M	I	+	3	3	APOC1	50111384	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.222000	0.00271	-3.898000	0.00093	-1.153000	0.01818	ATC		0.587	APOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453245.1			8	95	0	0	0	0	8	95				
OPA3	80207	broad.mit.edu	37	19	46057068	46057068	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057068C>G	ENST00000263275.4	-	2	298	c.244G>C	c.(244-246)Gag>Cag	p.E82Q	OPA3_ENST00000544371.1_Missense_Mutation_p.E29Q|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	82					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		CCCAGCAGCTCTGCGCCCAGC	0.657																																						uc002pck.3		NA																	0					0						c.(244-246)GAG>CAG		OPA3 protein isoform b							18.0	20.0	19.0					19																	46057068		2201	4297	6498	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46057068C>G	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.244G>C	19.37:g.46057068C>G	ENSP00000263275:p.Glu82Gln					OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.E29Q	p.E82Q	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	344	-		Ovarian(192;0.051)|all_neural(266;0.112)	82					Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.244G>C	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.893221	0.91889	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.84944	-1.92;-1.92	4.77	4.77	0.60923	.	.	.	.	.	D	0.91287	0.7253	M	0.70787	2.145	0.52501	D	0.999951	D	0.89917	1.0	D	0.81914	0.995	D	0.91509	0.5225	9	0.56958	D	0.05	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	82	Q9H6K4	OPA3_HUMAN	Q	82;29	ENSP00000263275:E82Q;ENSP00000442839:E29Q	ENSP00000263275:E82Q	E	-	1	0	OPA3	50748908	1.000000	0.71417	0.991000	0.47740	0.983000	0.72400	6.747000	0.74872	2.653000	0.90120	0.561000	0.74099	GAG		0.657	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			7	30	0	0	0	0	7	30				
OPA3	80207	broad.mit.edu	37	19	46057095	46057095	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:46057095C>T	ENST00000263275.4	-	2	271	c.217G>A	c.(217-219)Gag>Aag	p.E73K	OPA3_ENST00000544371.1_Missense_Mutation_p.E20K|OPA3_ENST00000323060.3_Intron	NM_025136.3	NP_079412.1	Q9H6K4	OPA3_HUMAN	optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)	73					growth (GO:0040007)|mitochondrion morphogenesis (GO:0070584)|neuromuscular process (GO:0050905)|regulation of lipid metabolic process (GO:0019216)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	mitochondrion (GO:0005739)				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		GCCGCCTCCTCGTTCAGCGGC	0.657																																						uc002pck.3		NA																	0					0						c.(217-219)GAG>AAG		OPA3 protein isoform b							17.0	20.0	19.0					19																	46057095		2193	4289	6482	SO:0001583	missense	80207				response to stimulus|visual perception	mitochondrion		g.chr19:46057095C>T	AK025840	CCDS12668.1, CCDS33052.1	19q13.2-q13.3	2014-01-28				ENSG00000125741			8142	protein-coding gene	gene with protein product		606580				9097959, 11668429	Standard	NM_001017989		Approved	FLJ22187, MGA3	uc002pcj.4	Q9H6K4		ENST00000263275.4:c.217G>A	19.37:g.46057095C>T	ENSP00000263275:p.Glu73Lys					OPA3_uc002pcj.3_Intron|OPA3_uc010xxk.1_Missense_Mutation_p.E20K	p.E73K	NM_025136	NP_079412	Q9H6K4	OPA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)	2	317	-		Ovarian(192;0.051)|all_neural(266;0.112)	73					Q6P384|Q8N784	Missense_Mutation	SNP	ENST00000263275.4	37	c.217G>A	CCDS12668.1	.	.	.	.	.	.	.	.	.	.	C	36	5.726177	0.96847	.	.	ENSG00000125741	ENST00000263275;ENST00000544371	D;D	0.85484	-1.99;-1.99	4.77	4.77	0.60923	.	.	.	.	.	D	0.94108	0.8111	M	0.93197	3.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.95182	0.8300	9	0.72032	D	0.01	.	15.6641	0.77213	0.0:1.0:0.0:0.0	.	73	Q9H6K4	OPA3_HUMAN	K	73;20	ENSP00000263275:E73K;ENSP00000442839:E20K	ENSP00000263275:E73K	E	-	1	0	OPA3	50748935	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.747000	0.74872	2.653000	0.90120	0.561000	0.74099	GAG		0.657	OPA3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459601.1			5	30	0	0	0	0	5	30				
LILRB1	10859	broad.mit.edu	37	19	55143593	55143593	+	Missense_Mutation	SNP	C	C	T	rs367841149		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55143593C>T	ENST00000396331.1	+	6	923	c.566C>T	c.(565-567)cCg>cTg	p.P189L	LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	189	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)	p.P189L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCCGTGAGCCCGAGTCGCAGG	0.592										HNSCC(37;0.09)																												uc002qgj.2		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(565-567)CCG>CTG		leukocyte immunoglobulin-like receptor,		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	141.0	139.0	140.0		566,566,566,566	1.6	0.0	19		140	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	98,98,98,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	189/653,189/652,189/652,189/651	55143593	1,13005	2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143593C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.566C>T	19.37:g.55143593C>T	ENSP00000379622:p.Pro189Leu	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.P189L|LILRB1_uc002qgk.2_Missense_Mutation_p.P189L|LILRB1_uc002qgm.2_Missense_Mutation_p.P189L|LILRB1_uc010erq.2_Missense_Mutation_p.P189L|LILRB1_uc010err.2_RNA	p.P189L	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	906	+			189			Ig-like C2-type 2.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.566C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.318910	0.23994	0.0	1.16E-4	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.03094	4.05;4.05;4.05;4.05;4.05;4.05;4.05;4.05;4.05;4.05;4.05	1.57	1.57	0.23409	Immunoglobulin-like fold (1);	0.855157	0.10126	N	0.712713	T	0.05410	0.0143	M	0.66939	2.045	0.09310	N	1	P;B;P;B;B	0.48764	0.915;0.132;0.795;0.417;0.285	B;B;B;B;B	0.39904	0.313;0.051;0.186;0.066;0.059	T	0.37709	-0.9694	10	0.87932	D	0	.	6.6481	0.22947	0.0:1.0:0.0:0.0	.	189;189;189;189;189	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	L	189;189;189;189;189;189;189;189;225;189;189	ENSP00000379614:P189L;ENSP00000391514:P189L;ENSP00000409968:P189L;ENSP00000379622:P189L;ENSP00000379618:P189L;ENSP00000315997:P189L;ENSP00000405243:P189L;ENSP00000379623:P189L;ENSP00000395004:P225L;ENSP00000379610:P189L;ENSP00000379608:P189L	ENSP00000315997:P189L	P	+	2	0	LILRB1	59835405	0.000000	0.05858	0.004000	0.12327	0.027000	0.11550	0.149000	0.16243	1.193000	0.43086	0.184000	0.17185	CCG		0.592	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			17	147	0	0	0	0	17	147				
NLRP7	199713	broad.mit.edu	37	19	55450785	55450785	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:55450785G>A	ENST00000590030.1	-	3	1442	c.1402C>T	c.(1402-1404)Cac>Tac	p.H468Y	NLRP7_ENST00000592784.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.H496Y|NLRP7_ENST00000588756.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000328092.5_Missense_Mutation_p.H468Y|NLRP7_ENST00000340844.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.H468Y			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	468	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AAGCTGAGGTGGATGAAGGAG	0.622																																						uc002qih.3		NA																	0				large_intestine(1)|breast(1)|central_nervous_system(1)	3						c.(1402-1404)CAC>TAC		NACHT, leucine rich repeat and PYD containing 7							40.0	39.0	39.0					19																	55450785		2203	4299	6502	SO:0001583	missense	199713						ATP binding	g.chr19:55450785G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1402C>T	19.37:g.55450785G>A	ENSP00000465520:p.His468Tyr					NLRP7_uc002qig.3_Missense_Mutation_p.H468Y|NLRP7_uc002qii.3_Missense_Mutation_p.H468Y|NLRP7_uc010esk.2_Missense_Mutation_p.H468Y|NLRP7_uc010esl.2_Missense_Mutation_p.H496Y	p.H468Y	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	1478	-			468			NACHT.		E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1402C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660401	0.47572	.	.	ENSG00000167634	ENST00000328092;ENST00000448121;ENST00000340844;ENST00000446217;ENST00000399724	D;D;D;D	0.85484	-1.87;-1.87;-1.99;-1.99	1.92	0.87	0.19102	.	0.480626	0.15673	N	0.250282	D	0.87325	0.6149	M	0.91038	3.17	0.29164	N	0.877544	P;P;P;P	0.40619	0.604;0.454;0.604;0.724	B;B;B;B	0.43623	0.243;0.243;0.243;0.425	T	0.82474	-0.0439	10	0.72032	D	0.01	.	6.1891	0.20513	0.1727:0.0:0.8273:0.0	.	496;468;468;468	E7EPM2;Q32MH9;Q8WX94;Q8WX94-2	.;.;NALP7_HUMAN;.	Y	468;468;468;496;235	ENSP00000329568:H468Y;ENSP00000409137:H468Y;ENSP00000339491:H468Y;ENSP00000414273:H496Y	ENSP00000329568:H468Y	H	-	1	0	NLRP7	60142597	1.000000	0.71417	0.539000	0.28077	0.232000	0.25224	6.963000	0.76055	0.369000	0.24510	0.462000	0.41574	CAC		0.622	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176		3	40	0	0	0	0	3	40				
ZSCAN1	284312	broad.mit.edu	37	19	58564809	58564809	+	Missense_Mutation	SNP	G	G	T	rs149388605	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58564809G>T	ENST00000282326.1	+	6	864	c.617G>T	c.(616-618)cGc>cTc	p.R206L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	206					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)		TCCCGGGCCCGCTTGCCTCTG	0.662																																						uc002qrc.1		NA																	0				ovary(2)	2						c.(616-618)CGC>CTC		zinc finger and SCAN domain containing 1							47.0	50.0	49.0					19																	58564809		2202	4299	6501	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58564809G>T	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.617G>T	19.37:g.58564809G>T	ENSP00000282326:p.Arg206Leu						p.R206L	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	864	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	206					Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.617G>T	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	G	0.614	-0.823761	0.02755	.	.	ENSG00000152467	ENST00000282326	T	0.03920	3.76	1.04	-2.09	0.07232	.	.	.	.	.	T	0.02688	0.0081	N	0.14661	0.345	0.20873	N	0.999833	B	0.19331	0.035	B	0.16289	0.015	T	0.45585	-0.9251	9	0.26408	T	0.33	.	6.8343	0.23927	0.7189:0.0:0.2811:0.0	.	206	Q8NBB4	ZSCA1_HUMAN	L	206	ENSP00000282326:R206L	ENSP00000282326:R206L	R	+	2	0	ZSCAN1	63256621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.113000	0.10774	-1.228000	0.02568	-1.185000	0.01705	CGC		0.662	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		8	76	1	0	1.26e-09	1.4e-09	8	76				
ZNF544	27300	broad.mit.edu	37	19	58773055	58773055	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr19:58773055A>G	ENST00000596652.1	+	6	1317	c.1083A>G	c.(1081-1083)aaA>aaG	p.K361K	ZNF544_ENST00000415203.2_Silent_p.K333K|ZNF544_ENST00000269829.4_Silent_p.K361K|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000600220.1_Silent_p.K333K|ZNF544_ENST00000600044.1_Silent_p.K333K|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Silent_p.K219K|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA			Q6NX49	ZN544_HUMAN	zinc finger protein 544	361					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)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGTGTGGAAAATCTTTCAGCT	0.458																																						uc010euo.2		NA																	0				pancreas(1)	1						c.(1081-1083)AAA>AAG		zinc finger protein 544							83.0	80.0	81.0					19																	58773055		2203	4300	6503	SO:0001819	synonymous_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773055A>G	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1083A>G	19.37:g.58773055A>G						ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Silent_p.K333K|ZNF544_uc010yhy.1_Silent_p.K333K|ZNF544_uc002qrt.3_Silent_p.K219K|ZNF544_uc002qru.3_Silent_p.K219K|uc002qrx.1_Intron	p.K361K	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	1557	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	361			C2H2-type 1; atypical.		A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	c.1083A>G	CCDS12973.1																																																																																				0.458	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		8	54	0	0	0	0	8	54				
CNGA3	1261	broad.mit.edu	37	2	99013345	99013345	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:99013345T>C	ENST00000272602.2	+	7	1751	c.1712T>C	c.(1711-1713)aTt>aCt	p.I571T	CNGA3_ENST00000436404.2_Missense_Mutation_p.I553T|CNGA3_ENST00000409937.1_Missense_Mutation_p.I575T|CNGA3_ENST00000393504.1_Missense_Mutation_p.I571T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	571					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ATCCGCAGCATTGGCTACTCA	0.587																																						uc002syt.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)	6						c.(1711-1713)ATT>ACT		cyclic nucleotide gated channel alpha 3 isoform							109.0	105.0	106.0					2																	99013345		2203	4300	6503	SO:0001583	missense	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99013345T>C	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.1712T>C	2.37:g.99013345T>C	ENSP00000272602:p.Ile571Thr					CNGA3_uc002syu.2_Missense_Mutation_p.I553T|CNGA3_uc010fij.2_Missense_Mutation_p.I575T	p.I571T	NM_001298	NP_001289	Q16281	CNGA3_HUMAN			8	2129	+			571			cGMP.		E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	ENST00000272602.2	37	c.1712T>C	CCDS2034.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.881626	0.51908	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602;ENST00000409937	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.42	5.42	0.78866	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.050217	0.85682	D	0.000000	D	0.92378	0.7581	L	0.39898	1.24	0.53005	D	0.999964	B;P;P	0.42584	0.414;0.784;0.702	P;P;P	0.55508	0.481;0.777;0.455	D	0.90312	0.4338	10	0.23891	T	0.37	.	14.581	0.68292	0.0:0.0:0.0:1.0	.	575;553;571	E9PF93;Q4VAP7;Q16281	.;.;CNGA3_HUMAN	T	571;553;571;575	ENSP00000377140:I571T;ENSP00000410070:I553T;ENSP00000272602:I571T;ENSP00000386761:I575T	ENSP00000272602:I571T	I	+	2	0	CNGA3	98379777	0.996000	0.38824	0.874000	0.34290	0.457000	0.32468	7.525000	0.81892	2.280000	0.76307	0.460000	0.39030	ATT		0.587	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		19	134	0	0	0	0	19	134				
UBXN4	23190	broad.mit.edu	37	2	136536546	136536546	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:136536546C>T	ENST00000272638.9	+	11	1393	c.1082C>T	c.(1081-1083)tCg>tTg	p.S361L	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	361	UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GGTAATTTTTCGTTAGCAACC	0.358																																						uc002tur.2		NA																	0				skin(2)	2						c.(1081-1083)TCG>TTG		UBX domain containing 2							88.0	86.0	86.0					2																	136536546		1816	4072	5888	SO:0001583	missense	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136536546C>T	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.1082C>T	2.37:g.136536546C>T	ENSP00000272638:p.Ser361Leu					UBXN4_uc002tus.2_Missense_Mutation_p.S127L|UBXN4_uc002tut.2_5'UTR	p.S361L	NM_014607	NP_055422	Q92575	UBXN4_HUMAN			11	1393	+			361			UBX.|Cytoplasmic (Potential).		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	ENST00000272638.9	37	c.1082C>T	CCDS42761.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364150	0.95877	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.47528	0.84	5.21	5.21	0.72293	UBX (3);	0.062077	0.64402	D	0.000003	T	0.65863	0.2732	M	0.67953	2.075	0.58432	D	0.999996	D	0.89917	1.0	D	0.66351	0.943	T	0.62282	-0.6887	10	0.29301	T	0.29	.	18.7767	0.91913	0.0:1.0:0.0:0.0	.	361	Q92575	UBXN4_HUMAN	L	361;343	ENSP00000272638:S361L	ENSP00000272638:S361L	S	+	2	0	UBXN4	136253016	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.076000	0.76806	2.439000	0.82584	0.655000	0.94253	TCG		0.358	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	NM_014607		7	60	0	0	0	0	7	60				
ITGA6	3655	broad.mit.edu	37	2	173355777	173355777	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:173355777G>A	ENST00000264106.6	+	22	3025	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R783Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.R902Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.R897Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.R902Q|ITGA6_ENST00000375221.2_Missense_Mutation_p.R941Q			P23229	ITA6_HUMAN	integrin, alpha 6	941					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R902L(4)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAAAGAAACGGGAAATTACT	0.299																																						uc002uhp.1		NA																	4	Substitution - Missense(4)		lung(2)|kidney(2)	ovary(1)|lung(1)	2						c.(2704-2706)CGG>CAG		integrin alpha chain, alpha 6 isoform a							97.0	120.0	112.0					2																	173355777		2202	4299	6501	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173355777G>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2822G>A	2.37:g.173355777G>A	ENSP00000264106:p.Arg941Gln					ITGA6_uc010zdy.1_Missense_Mutation_p.R783Q|ITGA6_uc002uho.1_Missense_Mutation_p.R902Q|ITGA6_uc010fqm.1_Missense_Mutation_p.R533Q	p.R902Q	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		21	2908	+			941			Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.2705G>A		.	.	.	.	.	.	.	.	.	.	G	23.9	4.471778	0.84533	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358;ENST00000416789	T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.73434	0.3586	M	0.88377	2.95	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;0.994;1.0;1.0	T	0.76515	-0.2931	10	0.45353	T	0.12	.	16.3226	0.82956	0.0:0.0:1.0:0.0	.	897;926;902;902	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	Q	783;902;941;941;897;902;941;897;69	ENSP00000386614:R783Q;ENSP00000264107:R902Q;ENSP00000264106:R941Q;ENSP00000364369:R941Q;ENSP00000341078:R897Q;ENSP00000386896:R902Q;ENSP00000406694:R941Q;ENSP00000394169:R897Q;ENSP00000388435:R69Q	ENSP00000264106:R941Q	R	+	2	0	ITGA6	173064023	0.986000	0.35501	1.000000	0.80357	0.929000	0.56500	2.677000	0.46892	2.534000	0.85438	0.460000	0.39030	CGG		0.299	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				18	167	0	0	0	0	18	167				
NAB1	4664	broad.mit.edu	37	2	191524148	191524148	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524148C>T	ENST00000337386.5	+	4	707	c.246C>T	c.(244-246)ttC>ttT	p.F82F	NAB1_ENST00000357215.5_Silent_p.F82F|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000409641.1_Silent_p.F82F|NAB1_ENST00000409581.1_Silent_p.F82F	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	82	NCD1.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			CTGGGCTTTTCAATCAGCCAC	0.478																																						uc002usb.2		NA																	0					0						c.(244-246)TTC>TTT		NGFI-A binding protein 1							67.0	67.0	67.0					2																	191524148		2203	4300	6503	SO:0001819	synonymous_variant	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524148C>T		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.246C>T	2.37:g.191524148C>T						NAB1_uc010fsc.2_Silent_p.F82F|NAB1_uc010fsd.2_Silent_p.F82F|NAB1_uc002usc.2_Silent_p.F82F|NAB1_uc010zgh.1_Silent_p.F82F	p.F82F	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	818	+			82			NCD1.		O75383|O75384|Q6GTU1|Q9UEV1	Silent	SNP	ENST00000337386.5	37	c.246C>T	CCDS2307.1																																																																																				0.478	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		4	80	0	0	0	0	4	80				
NAB1	4664	broad.mit.edu	37	2	191524152	191524152	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:191524152C>G	ENST00000337386.5	+	4	711	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	NAB1_ENST00000357215.5_Missense_Mutation_p.Q84E|NAB1_ENST00000545490.1_5'Flank|NAB1_ENST00000409641.1_Missense_Mutation_p.Q84E|NAB1_ENST00000409581.1_Missense_Mutation_p.Q84E	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	84					endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GCTTTTCAATCAGCCACTGAC	0.493																																						uc002usb.2		NA																	0					0						c.(250-252)CAG>GAG		NGFI-A binding protein 1							66.0	67.0	66.0					2																	191524152		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191524152C>G		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.250C>G	2.37:g.191524152C>G	ENSP00000336894:p.Gln84Glu					NAB1_uc010fsc.2_Missense_Mutation_p.Q84E|NAB1_uc010fsd.2_Missense_Mutation_p.Q84E|NAB1_uc002usc.2_Missense_Mutation_p.Q84E|NAB1_uc010zgh.1_Missense_Mutation_p.Q84E	p.Q84E	NM_005966	NP_005957	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		4	822	+			84					O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.250C>G	CCDS2307.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350324	0.61183	.	.	ENSG00000138386	ENST00000448811;ENST00000416973;ENST00000426601;ENST00000409581;ENST00000337386;ENST00000357215;ENST00000423076;ENST00000409641	.	.	.	5.51	5.51	0.81932	Nab, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	N	0.22421	0.69	0.80722	D	1	P;B;B	0.52577	0.954;0.006;0.006	D;B;B	0.67900	0.954;0.021;0.021	T	0.61496	-0.7051	9	0.36615	T	0.2	-11.1497	18.5908	0.91212	0.0:1.0:0.0:0.0	.	84;84;84	F8W8J7;B8ZZS2;Q13506	.;.;NAB1_HUMAN	E	84;84;84;84;84;84;32;84	.	ENSP00000336894:Q84E	Q	+	1	0	NAB1	191232397	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.604000	0.82830	2.873000	0.98535	0.561000	0.74099	CAG		0.493	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		4	82	0	0	0	0	4	82				
SF3B1	23451	broad.mit.edu	37	2	198299715	198299715	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:198299715C>T	ENST00000335508.6	-	1	100	c.9G>A	c.(7-9)aaG>aaA	p.K3K	SF3B1_ENST00000487698.1_Silent_p.K3K|SF3B1_ENST00000409915.4_Silent_p.K3K|SF3B1_ENST00000414963.2_Silent_p.K3K	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	3					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTTGGCGATCTTCGCCATTT	0.517			Mis		myelodysplastic syndrome																																	uc002uue.2		NA		Dom	yes		2	2q33.1	23451		"""splicing factor 3b, subunit 1, 155kDa"""			L					0				pancreas(3)|ovary(1)|breast(1)|skin(1)	6						c.(7-9)AAG>AAA		splicing factor 3b, subunit 1 isoform 1							117.0	97.0	103.0					2																	198299715		2203	4300	6503	SO:0001819	synonymous_variant	23451				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	g.chr2:198299715C>T	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.9G>A	2.37:g.198299715C>T						SF3B1_uc010fsk.1_RNA|SF3B1_uc002uuf.2_Silent_p.K3K|SF3B1_uc002uug.2_Silent_p.K3K	p.K3K	NM_012433	NP_036565	O75533	SF3B1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		1	57	-			3					E9PCH3	Silent	SNP	ENST00000335508.6	37	c.9G>A	CCDS33356.1																																																																																				0.517	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			5	62	0	0	0	0	5	62				
CASP8	841	broad.mit.edu	37	2	202137620	202137620	+	Splice_Site	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202137620G>C	ENST00000432109.2	+	6	739		c.e6-1		CASP8_ENST00000358485.4_Splice_Site|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Intron|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000264275.5_Intron	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TTTTAATTCAGAGAGAAGCAG	0.368										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0				upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.e6-1		caspase 8 isoform B precursor							114.0	116.0	115.0					2																	202137620		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202137620G>C	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.551-1G>C	2.37:g.202137620G>C		HNSCC(4;0.00038)				CASP8_uc010ftc.1_3'UTR|CASP8_uc002uxo.1_Splice_Site_p.E184_splice|CASP8_uc002uxp.1_Intron|CASP8_uc002uxq.1_Intron|CASP8_uc002uxt.1_Splice_Site_p.E243_splice|CASP8_uc002uxu.1_Splice_Site|CASP8_uc002uxv.1_Intron|CASP8_uc002uxw.1_Intron|CASP8_uc002uxy.1_Splice_Site_p.E184_splice|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Intron|CASP8_uc010fte.1_Intron	p.E184_splice	NM_033355	NP_203519	Q14790	CASP8_HUMAN			6	760	+								O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Splice_Site	SNP	ENST00000432109.2	37	c.551_splice	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037099	0.35893	.	.	ENSG00000064012	ENST00000392259;ENST00000432109;ENST00000392258;ENST00000358485;ENST00000413726	.	.	.	5.6	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.894	0.52646	0.0:0.0:0.8253:0.1747	.	.	.	.	.	-1	.	.	.	+	.	.	CASP8	201845865	0.997000	0.39634	0.793000	0.32043	0.163000	0.22366	3.687000	0.54692	1.358000	0.45922	0.591000	0.81541	.		0.368	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Intron	4	80	0	0	0	0	4	80				
STRADB	55437	broad.mit.edu	37	2	202340452	202340452	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:202340452G>A	ENST00000194530.3	+	7	900	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	STRADB_ENST00000392249.2_Missense_Mutation_p.G179S	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						GCACCAAAATGGCTGTATTCA	0.338																																						uc002uyd.3		NA																	0				skin(2)|stomach(1)|lung(1)	4						c.(535-537)GGC>AGC		STE20-related kinase adaptor beta							112.0	114.0	113.0					2																	202340452		2203	4300	6503	SO:0001583	missense	55437				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity	g.chr2:202340452G>A	AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.535G>A	2.37:g.202340452G>A	ENSP00000194530:p.Gly179Ser						p.G179S	NM_018571	NP_061041	Q9C0K7	STRAB_HUMAN			7	900	+			179			Protein kinase.		Q5BKY7|Q9P1L0	Missense_Mutation	SNP	ENST00000194530.3	37	c.535G>A	CCDS2348.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498296	0.85069	.	.	ENSG00000082146	ENST00000458269;ENST00000194530;ENST00000539670;ENST00000392249;ENST00000392866	T;T;T	0.66460	-0.21;2.42;2.42	5.95	5.95	0.96441	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048684	0.85682	D	0.000000	T	0.80232	0.4585	M	0.76433	2.335	0.58432	D	0.999995	D	0.71674	0.998	D	0.68192	0.956	T	0.81315	-0.0988	10	0.66056	D	0.02	.	13.5585	0.61775	0.0708:0.0:0.9292:0.0	.	179	Q9C0K7	STRAB_HUMAN	S	124;179;179;179;41	ENSP00000409552:G124S;ENSP00000194530:G179S;ENSP00000376080:G179S	ENSP00000194530:G179S	G	+	1	0	STRADB	202048697	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.455000	0.80726	2.817000	0.96982	0.563000	0.77884	GGC		0.338	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571		18	90	0	0	0	0	18	90				
DYTN	391475	broad.mit.edu	37	2	207530693	207530693	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:207530693C>T	ENST00000452335.2	-	10	1157	c.1041G>A	c.(1039-1041)caG>caA	p.Q347Q		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	347						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		TTCTTTCTTCCTGGGAGGTGT	0.408																																						uc002vbr.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1039-1041)CAG>CAA		dystrotelin							232.0	205.0	213.0					2																	207530693		1834	4090	5924	SO:0001819	synonymous_variant	391475					plasma membrane	zinc ion binding	g.chr2:207530693C>T	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1041G>A	2.37:g.207530693C>T							p.Q347Q	NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)	10	1158	-			347			Potential.			Silent	SNP	ENST00000452335.2	37	c.1041G>A	CCDS46502.1																																																																																				0.408	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1			10	74	0	0	0	0	10	74				
ERBB4	2066	broad.mit.edu	37	2	212530201	212530201	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:212530201C>T	ENST00000342788.4	-	15	2028	c.1718G>A	c.(1717-1719)gGt>gAt	p.G573D	ERBB4_ENST00000436443.1_Splice_Site_p.G573D|ERBB4_ENST00000402597.1_Splice_Site_p.G573D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	573	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	GTTGTCAGGACCCTGAAATGT	0.393										TSP Lung(8;0.080)																												uc002veg.1		NA																	0				lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	33						c.(1717-1719)GGT>GAT		v-erb-a erythroblastic leukemia viral oncogene							83.0	76.0	78.0					2																	212530201		2203	4300	6503	SO:0001630	splice_region_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212530201C>T	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1717-1G>A	2.37:g.212530201C>T		TSP Lung(8;0.080)				ERBB4_uc002veh.1_Missense_Mutation_p.G573D|ERBB4_uc010zji.1_Missense_Mutation_p.G573D|ERBB4_uc010zjj.1_Missense_Mutation_p.G573D|ERBB4_uc010fut.1_Missense_Mutation_p.G573D	p.G573D	NM_005235	NP_005226	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	15	1816	-		Renal(323;0.06)|Lung NSC(271;0.197)	573			Extracellular (Potential).|Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	c.1718G>A	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.1|27.1	4.797143|4.797143	0.90538|0.90538	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.49432|.	0.78;0.78;0.78|.	4.94|4.94	4.94|4.94	0.65067|0.65067	Growth factor, receptor (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72028|0.72028	0.3410|0.3410	L|L	0.56396|0.56396	1.775|1.775	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;0.998;1.0;1.0;1.0|.	D;D;D;D;D|.	0.97110|.	1.0;0.927;1.0;1.0;1.0|.	T|T	0.70160|0.70160	-0.4948|-0.4948	10|5	0.56958|.	D|.	0.05|.	.|.	18.5459|18.5459	0.91045|0.91045	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	573;573;432;573;573|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	D|I	573|573	ENSP00000342235:G573D;ENSP00000403204:G573D;ENSP00000385565:G573D|.	ENSP00000342235:G573D|.	G|V	-|-	2|1	0|0	ERBB4|ERBB4	212238446|212238446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.770000|7.770000	0.85390|0.85390	2.459000|2.459000	0.83118|0.83118	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.393	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	Missense_Mutation	4	47	0	0	0	0	4	47				
SPEG	10290	broad.mit.edu	37	2	220355164	220355164	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr2:220355164G>A	ENST00000312358.7	+	37	9087	c.8955G>A	c.(8953-8955)gaG>gaA	p.E2985E	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2985	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGTGCCGGGAGAATGCCACGG	0.672																																						uc010fwg.2		NA																	0				stomach(9)|ovary(4)|central_nervous_system(1)	14						c.(8953-8955)GAG>GAA		SPEG complex locus							39.0	46.0	44.0					2																	220355164		2126	4223	6349	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220355164G>A	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8955G>A	2.37:g.220355164G>A							p.E2985E	NM_005876	NP_005867	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	37	8955	+		Renal(207;0.0183)	2985			Protein kinase 2.		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.8955G>A	CCDS42824.1																																																																																				0.672	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		8	59	0	0	0	0	8	59				
ANGPT4	51378	broad.mit.edu	37	20	870886	870886	+	Silent	SNP	C	C	T	rs370322294		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:870886C>T	ENST00000381922.3	-	2	537	c.435G>A	c.(433-435)caG>caA	p.Q145Q	ANGPT4_ENST00000546022.1_Silent_p.Q145Q	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	145					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTTGCGGATCTGGGCAGTGG	0.622																																					Pancreas(181;481 2077 3259 31286 49856)	uc002wei.2		NA																	0				ovary(2)	2						c.(433-435)CAG>CAA		angiopoietin 4 precursor				0,4406		0,0,2203	103.0	87.0	92.0		435	3.4	1.0	20		92	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ANGPT4	NM_015985.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		145/504	870886	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51378				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr20:870886C>T	AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.435G>A	20.37:g.870886C>T						ANGPT4_uc010zpn.1_Silent_p.Q139Q	p.Q145Q	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN			2	538	-			145			Potential.		B4E3J9|Q5TFF4|Q9H4Z4	Silent	SNP	ENST00000381922.3	37	c.435G>A	CCDS13009.1																																																																																				0.622	ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985		3	43	0	0	0	0	3	43				
AVP	551	broad.mit.edu	37	20	3065205	3065205	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:3065205C>G	ENST00000380293.3	-	1	165	c.116G>C	c.(115-117)aGa>aCa	p.R39T		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	39					cell-cell signaling (GO:0007267)|ERK1 and ERK2 cascade (GO:0070371)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|hyperosmotic salinity response (GO:0042538)|locomotory behavior (GO:0007626)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of female receptivity (GO:0007621)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of renal sodium excretion (GO:0035813)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|signal transduction (GO:0007165)|social behavior (GO:0035176)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)|water transport (GO:0006833)	cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|neuropeptide hormone activity (GO:0005184)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|signal transducer activity (GO:0004871)|V1A vasopressin receptor binding (GO:0031894)			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		AAGTACCTGTCTCAGCTCCAG	0.642																																						uc002whu.2		NA																	0					0						c.(115-117)AGA>ACA		arginine vasopressin-neurophysin II							113.0	107.0	109.0					20																	3065205		2203	4300	6503	SO:0001583	missense	551				cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding	g.chr20:3065205C>G	M25647	CCDS13045.1	20p13	2014-09-17	2008-07-31		ENSG00000101200	ENSG00000101200		"""Endogenous ligands"""	894	protein-coding gene	gene with protein product	"""antidiuretic hormone"", ""neurophysin II"", ""diabetes insipidus"", ""neurohypophyseal"", ""prepro-AVP-NP II"", ""prepro-arginine-vasopressin-neurophysin II"""	192340		ARVP		1840604	Standard	NM_000490		Approved	ADH	uc002whu.3	P01185	OTTHUMG00000031733	ENST00000380293.3:c.116G>C	20.37:g.3065205C>G	ENSP00000369647:p.Arg39Thr						p.R39T	NM_000490	NP_000481	P01185	NEU2_HUMAN		COAD - Colon adenocarcinoma(99;0.00643)	1	166	-			39					A0AV35|O14935	Missense_Mutation	SNP	ENST00000380293.3	37	c.116G>C	CCDS13045.1	.	.	.	.	.	.	.	.	.	.	C	31	5.075975	0.94000	.	.	ENSG00000101200	ENST00000380293	D	0.98400	-4.91	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99242	0.9736	M	0.92317	3.295	0.49483	D	0.99979	D	0.89917	1.0	D	0.97110	1.0	D	0.99194	1.0871	10	0.87932	D	0	.	19.3138	0.94204	0.0:1.0:0.0:0.0	.	39	P01185	NEU2_HUMAN	T	39	ENSP00000369647:R39T	ENSP00000369647:R39T	R	-	2	0	AVP	3013205	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	5.469000	0.66749	2.561000	0.86390	0.655000	0.94253	AGA		0.642	AVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077713.2	NM_000490		5	155	0	0	0	0	5	155				
PLCB4	5332	broad.mit.edu	37	20	9317800	9317800	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:9317800C>G	ENST00000378493.1	+	2	127	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	PLCB4_ENST00000414679.2_Missense_Mutation_p.L38V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.L38V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L38V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L38V|PLCB4_ENST00000378473.3_Missense_Mutation_p.L38V			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	38					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACCCAACTGCCTCTTCAAAGT	0.383																																						uc002wnf.2		NA																	0				skin(11)|ovary(3)|pancreas(1)	15						c.(112-114)CTC>GTC		phospholipase C beta 4 isoform b							134.0	123.0	127.0					20																	9317800		2203	4300	6503	SO:0001583	missense	5332				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr20:9317800C>G		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.112C>G	20.37:g.9317800C>G	ENSP00000367754:p.Leu38Val					PLCB4_uc010gbw.1_Missense_Mutation_p.L38V|PLCB4_uc010gbx.2_Missense_Mutation_p.L38V|PLCB4_uc002wne.2_Missense_Mutation_p.L38V	p.L38V	NM_182797	NP_877949	Q15147	PLCB4_HUMAN			4	248	+			38					B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	37	c.112C>G	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.161921	0.57368	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000416836;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.65	5.65	0.86999	Pleckstrin homology-type (1);	0.169820	0.49916	D	0.000128	T	0.45617	0.1351	L	0.57536	1.79	0.46416	D	0.99903	B;B;B	0.29037	0.069;0.231;0.135	B;B;B	0.29785	0.02;0.107;0.067	T	0.36553	-0.9743	10	0.46703	T	0.11	.	19.7398	0.96223	0.0:1.0:0.0:0.0	.	38;38;38	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	V	38	ENSP00000385805:L38V;ENSP00000412982:L38V;ENSP00000334105:L38V;ENSP00000367734:L38V;ENSP00000391614:L38V;ENSP00000395753:L38V;ENSP00000278655:L38V;ENSP00000367754:L38V;ENSP00000367762:L38V	ENSP00000278655:L38V	L	+	1	0	PLCB4	9265800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.106000	0.57804	2.660000	0.90430	0.655000	0.94253	CTC		0.383	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2			3	75	0	0	0	0	3	75				
BPIFB2	80341	broad.mit.edu	37	20	31611154	31611154	+	Missense_Mutation	SNP	G	G	A	rs142508681		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr20:31611154G>A	ENST00000170150.3	+	16	1537	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	448						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										TCAGGGCTACGTGGTGATATC	0.592																																						uc002wyj.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(1342-1344)GTG>ATG		bactericidal/permeability-increasing							95.0	83.0	87.0					20																	31611154		2203	4300	6503	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31611154G>A	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1342G>A	20.37:g.31611154G>A	ENSP00000170150:p.Val448Met						p.V448M	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			16	1536	+			448					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.1342G>A	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.970181	0.18659	.	.	ENSG00000078898	ENST00000170150	T	0.07327	3.2	3.49	2.53	0.30540	.	0.199252	0.24912	N	0.034607	T	0.12433	0.0302	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.64687	0.928	T	0.10177	-1.0641	10	0.31617	T	0.26	-11.5437	6.9884	0.24741	0.1265:0.0:0.8735:0.0	.	448	Q8N4F0	BPIB2_HUMAN	M	448	ENSP00000170150:V448M	ENSP00000170150:V448M	V	+	1	0	BPIFB2	31074815	0.017000	0.18338	0.012000	0.15200	0.069000	0.16628	1.185000	0.32065	1.055000	0.40461	0.407000	0.27541	GTG		0.592	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		6	57	0	0	0	0	6	57				
TRPM2	7226	broad.mit.edu	37	21	45821618	45821618	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr21:45821618C>T	ENST00000397928.1	+	16	2821	c.2376C>T	c.(2374-2376)ttC>ttT	p.F792F	TRPM2_ENST00000397932.2_Silent_p.F792F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.F772F|TRPM2_ENST00000300482.5_Silent_p.F792F	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	792					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GTGCCTTCTTCACCGCACCCG	0.652																																						uc002zet.1		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2374-2376)TTC>TTT		transient receptor potential cation channel,							223.0	173.0	190.0					21																	45821618		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821618C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2376C>T	21.37:g.45821618C>T						TRPM2_uc002zeu.1_Silent_p.F792F|TRPM2_uc002zew.1_Silent_p.F792F|TRPM2_uc010gpt.1_Silent_p.F792F|TRPM2_uc002zex.1_Silent_p.F578F|TRPM2_uc002zey.1_Silent_p.F305F	p.F792F	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2589	+			792			Extracellular (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2376C>T	CCDS13710.1																																																																																				0.652	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		17	193	0	0	0	0	17	193				
SH3BP1	23616	broad.mit.edu	37	22	38041500	38041500	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:38041500G>A	ENST00000357436.4	+	10	1220	c.907G>A	c.(907-909)Gag>Aag	p.E303K	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E303K|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000599616.1_Missense_Mutation_p.E239K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E303K	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	303	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCTGCTTTCTGAGGGCATGAA	0.642																																						uc003ati.2		NA																	0				central_nervous_system(1)	1						c.(907-909)GAG>AAG		SH3-domain binding protein 1							69.0	69.0	69.0					22																	38041500		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041500G>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.907G>A	22.37:g.38041500G>A	ENSP00000350018:p.Glu303Lys					SH3BP1_uc003atg.1_RNA|SH3BP1_uc011anl.1_Missense_Mutation_p.E303K|SH3BP1_uc003ath.1_Missense_Mutation_p.E303K|SH3BP1_uc003atj.1_Missense_Mutation_p.E239K|SH3BP1_uc003atk.1_Missense_Mutation_p.E217K|uc003atl.1_Intron	p.E303K	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN			10	1018	+	Melanoma(58;0.0574)		303			Rho-GAP.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.907G>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799966	0.50208	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18174	2.23;2.23;2.23	5.6	5.6	0.85130	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.202506	0.34435	N	0.003977	T	0.14141	0.0342	N	0.10645	0.015	0.31027	N	0.717828	B;D;P;D;D	0.59357	0.067;0.985;0.826;0.964;0.985	B;P;B;P;P	0.56278	0.064;0.795;0.371;0.703;0.795	T	0.05683	-1.0870	10	0.13853	T	0.58	.	9.7117	0.40249	0.0:0.1255:0.682:0.1925	.	303;217;239;303;217	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	K	303;303;303;217	ENSP00000350018:E303K;ENSP00000337213:E303K;ENSP00000395126:E303K	ENSP00000337213:E303K	E	+	1	0	SH3BP1	36371446	0.997000	0.39634	0.960000	0.40013	0.996000	0.88848	3.996000	0.57009	2.648000	0.89879	0.462000	0.41574	GAG		0.642	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	NM_018957		14	85	0	0	0	0	14	85				
MGAT3	4248	broad.mit.edu	37	22	39884499	39884499	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:39884499C>G	ENST00000341184.6	+	2	1362	c.1147C>G	c.(1147-1149)Cgc>Ggc	p.R383G		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	383					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGCCTGCGCCGCCGCCAGTA	0.657																																						uc003axv.3		NA																	0					0						c.(1147-1149)CGC>GGC		mannosyl (beta-1,4-)-glycoprotein							41.0	43.0	42.0					22																	39884499		2203	4298	6501	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884499C>G	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1147C>G	22.37:g.39884499C>G	ENSP00000345270:p.Arg383Gly					MGAT3_uc010gxy.2_Missense_Mutation_p.R383G	p.R383G	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	1386	+	Melanoma(58;0.04)		383			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.1147C>G	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707987	0.68615	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.66939	2.045	0.53005	D	0.999961	D	0.67145	0.996	D	0.70716	0.97	T	0.79102	-0.1941	9	0.56958	D	0.05	.	19.0965	0.93253	0.0:1.0:0.0:0.0	.	383	Q09327	MGAT3_HUMAN	G	383	.	ENSP00000345270:R383G	R	+	1	0	MGAT3	38214445	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.490000	0.66881	2.531000	0.85337	0.555000	0.69702	CGC		0.657	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		10	81	0	0	0	0	10	81				
EP300	2033	broad.mit.edu	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(4540-4542)GAA>AAA		E1A binding protein p300							106.0	105.0	105.0					22																	41568590		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41568590G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4540G>A	22.37:g.41568590G>A	ENSP00000263253:p.Glu1514Lys						p.E1514K	NM_001429	NP_001420	Q09472	EP300_HUMAN			28	4935	+			1514					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4540G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231000	0.95207	.	.	ENSG00000100393	ENST00000263253	D	0.94417	-3.42	5.96	5.96	0.96718	.	0.000000	0.49305	D	0.000149	D	0.97945	0.9324	M	0.89785	3.06	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.98128	1.0429	10	0.87932	D	0	-12.635	20.422	0.99049	0.0:0.0:1.0:0.0	.	1514	Q09472	EP300_HUMAN	K	1514	ENSP00000263253:E1514K	ENSP00000263253:E1514K	E	+	1	0	EP300	39898536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.832000	0.97577	0.655000	0.94253	GAA		0.398	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		4	26	0	0	0	0	4	26				
EP300	2033	broad.mit.edu	37	22	41574519	41574519	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:41574519G>A	ENST00000263253.7	+	31	8023	c.6804G>A	c.(6802-6804)caG>caA	p.Q2268Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2268					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTCAGCAACAGATGGGGTCCC	0.577			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(6802-6804)CAG>CAA		E1A binding protein p300							115.0	116.0	116.0					22																	41574519		2203	4300	6503	SO:0001819	synonymous_variant	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41574519G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6804G>A	22.37:g.41574519G>A							p.Q2268Q	NM_001429	NP_001420	Q09472	EP300_HUMAN			31	7199	+			2268					B1AKC2	Silent	SNP	ENST00000263253.7	37	c.6804G>A	CCDS14010.1																																																																																				0.577	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		4	92	0	0	0	0	4	92				
NAGA	4668	broad.mit.edu	37	22	42461814	42461814	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:42461814C>T	ENST00000396398.3	-	6	1219	c.687G>A	c.(685-687)ctG>ctA	p.L229L	NAGA_ENST00000403363.1_Silent_p.L229L|NAGA_ENST00000402937.1_Silent_p.L229L	NM_000262.2	NP_000253.1	P17050	NAGAB_HUMAN	N-acetylgalactosaminidase, alpha-	229					carbohydrate catabolic process (GO:0016052)|glycolipid catabolic process (GO:0019377)|glycoside catabolic process (GO:0016139)|glycosylceramide catabolic process (GO:0046477)|oligosaccharide metabolic process (GO:0009311)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|alpha-N-acetylgalactosaminidase activity (GO:0008456)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CGAACCAATTCAGGATGGAGA	0.577																																						uc003bbx.2		NA																	0				central_nervous_system(1)	1						c.(685-687)CTG>CTA		alpha-N-acetylgalactosaminidase precursor							119.0	91.0	100.0					22																	42461814		2203	4300	6503	SO:0001819	synonymous_variant	4668				glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity	g.chr22:42461814C>T		CCDS14030.1	22q13.2	2010-07-09			ENSG00000198951	ENSG00000198951	3.2.1.49		7631	protein-coding gene	gene with protein product		104170					Standard	NM_000262		Approved	D22S674	uc003bbw.4	P17050	OTTHUMG00000151276	ENST00000396398.3:c.687G>A	22.37:g.42461814C>T						NAGA_uc003bby.2_Silent_p.L229L|NAGA_uc003bbw.3_Silent_p.L229L	p.L229L	NM_000262	NP_000253	P17050	NAGAB_HUMAN			7	824	-			229						Silent	SNP	ENST00000396398.3	37	c.687G>A	CCDS14030.1	.	.	.	.	.	.	.	.	.	.	C	0.747	-0.774100	0.02951	.	.	ENSG00000198951	ENST00000481068	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.64505	0.2604	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63283	-0.6672	4	.	.	.	-13.8487	13.0846	0.59133	0.1605:0.8395:0.0:0.0	.	.	.	.	K	107	.	.	E	-	1	0	NAGA	40791760	0.968000	0.33430	1.000000	0.80357	0.024000	0.10985	0.187000	0.16998	2.268000	0.75426	0.563000	0.77884	GAA		0.577	NAGA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322056.1			5	55	0	0	0	0	5	55				
SMC1B	27127	broad.mit.edu	37	22	45802535	45802535	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr22:45802535C>T	ENST00000357450.4	-	4	420	c.421G>A	c.(421-423)Gag>Aag	p.E141K	SMC1B_ENST00000404354.3_Missense_Mutation_p.E141K	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	141					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GAAATTGACTCTACAGTTCCC	0.318																																						uc003bgc.2		NA																	0				ovary(2)	2						c.(421-423)GAG>AAG		SMC1 structural maintenance of chromosomes							75.0	67.0	69.0					22																	45802535		1800	4073	5873	SO:0001583	missense	27127				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	g.chr22:45802535C>T	AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.421G>A	22.37:g.45802535C>T	ENSP00000350036:p.Glu141Lys					SMC1B_uc003bgd.2_Missense_Mutation_p.E141K|SMC1B_uc003bge.1_5'UTR	p.E141K	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	4	473	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	141					A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	ENST00000357450.4	37	c.421G>A	CCDS43027.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134555	0.94517	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.09630	2.96;3.27	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000009	T	0.46580	0.1400	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.56257	-0.8009	10	0.87932	D	0	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	141;141	Q8NDV3-2;Q8NDV3-3	.;.	K	141	ENSP00000350036:E141K;ENSP00000385902:E141K	ENSP00000350036:E141K	E	-	1	0	SMC1B	44181199	1.000000	0.71417	0.997000	0.53966	0.874000	0.50279	7.450000	0.80656	2.793000	0.96121	0.561000	0.74099	GAG		0.318	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322256.2	NM_148674		6	56	0	0	0	0	6	56				
CRBN	51185	broad.mit.edu	37	3	3215782	3215782	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:3215782A>G	ENST00000231948.4	-	3	360	c.338T>C	c.(337-339)tTa>tCa	p.L113S	CRBN_ENST00000432408.2_Missense_Mutation_p.L112S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	113	Lon.				negative regulation of ion transmembrane transport (GO:0034766)|negative regulation of protein homooligomerization (GO:0032463)|positive regulation of protein homodimerization activity (GO:0090073)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP-dependent peptidase activity (GO:0004176)			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	Lenalidomide(DB00480)|Pomalidomide(DB08910)|Thalidomide(DB01041)	TTTCTGAATTAAATTCCGCAC	0.408																																						uc003bpq.2		NA																	0				ovary(1)	1						c.(337-339)TTA>TCA		cereblon							92.0	94.0	93.0					3																	3215782		2203	4300	6503	SO:0001583	missense	51185				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding	g.chr3:3215782A>G	BC017419	CCDS2562.1, CCDS54547.1	3p26.3	2014-05-27			ENSG00000113851	ENSG00000113851			30185	protein-coding gene	gene with protein product		609262	"""mental retardation, non-syndromic, autosomal recessive, 2A"""	MRT2A		15557513	Standard	NM_016302		Approved	MRT2	uc003bpq.3	Q96SW2	OTTHUMG00000090261	ENST00000231948.4:c.338T>C	3.37:g.3215782A>G	ENSP00000231948:p.Leu113Ser					CRBN_uc003bpr.2_Missense_Mutation_p.L112S|CRBN_uc010hbw.2_Missense_Mutation_p.L113S|CRBN_uc011aso.1_Missense_Mutation_p.L50S	p.L113S	NM_016302	NP_057386	Q96SW2	CRBN_HUMAN		Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)	3	357	-			113			Lon.		B2R6H4|C9IZA9|C9JAH6|Q6AI62|Q6NVZ0|Q9UHW4	Missense_Mutation	SNP	ENST00000231948.4	37	c.338T>C	CCDS2562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.17|18.17	3.563942|3.563942	0.65651|0.65651	.|.	.|.	ENSG00000113851|ENSG00000113851	ENST00000231948;ENST00000432408;ENST00000546075|ENST00000424814;ENST00000450014	T;T|.	0.52057|.	0.68;0.68|.	5.75|5.75	5.75|5.75	0.90469|0.90469	Peptidase S16, lon N-terminal (2);PUA-like domain (1);|.	0.155671|.	0.42172|.	D|.	0.000755|.	T|.	0.63402|.	0.2508|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D;D;D|.	0.56746|.	0.958;0.971;0.977|.	P;P;P|.	0.59357|.	0.587;0.776;0.856|.	T|.	0.60209|.	-0.7308|.	10|.	0.56958|.	D|.	0.05|.	-13.3573|-13.3573	16.0563|16.0563	0.80809|0.80809	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	50;112;113|.	F5H3U1;Q96SW2-2;Q96SW2|.	.;.;CRBN_HUMAN|.	S|Q	113;112;50|109	ENSP00000231948:L113S;ENSP00000412499:L112S|.	ENSP00000231948:L113S|.	L|X	-|-	2|1	0|0	CRBN|CRBN	3190782|3190782	1.000000|1.000000	0.71417|0.71417	0.468000|0.468000	0.27192|0.27192	0.998000|0.998000	0.95712|0.95712	9.120000|9.120000	0.94369|0.94369	2.183000|2.183000	0.69458|0.69458	0.528000|0.528000	0.53228|0.53228	TTA|TAA		0.408	CRBN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206579.3	NM_016302		4	54	0	0	0	0	4	54				
DLEC1	9940	broad.mit.edu	37	3	38081059	38081059	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:38081059G>A	ENST00000308059.6	+	1	364	c.343G>A	c.(343-345)Gca>Aca	p.A115T	DLEC1_ENST00000346219.3_Missense_Mutation_p.A115T|DLEC1_ENST00000452631.2_Missense_Mutation_p.A115T					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CGAAGTGAGCGCAAGCTTGAT	0.642																																						uc003cho.1		NA																	0				ovary(2)|pancreas(2)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(343-345)GCA>ACA		deleted in lung and esophageal cancer 1 isoform							53.0	57.0	55.0					3																	38081059		2107	4222	6329	SO:0001583	missense	9940				negative regulation of cell proliferation	cytoplasm		g.chr3:38081059G>A	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.343G>A	3.37:g.38081059G>A	ENSP00000308597:p.Ala115Thr					DLEC1_uc003chp.1_Missense_Mutation_p.A115T|DLEC1_uc010hgv.1_Missense_Mutation_p.A115T	p.A115T	NM_007335	NP_031361	Q9Y238	DLEC1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)	1	364	+			115						Missense_Mutation	SNP	ENST00000308059.6	37	c.343G>A	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	G	8.585	0.883260	0.17467	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05319	3.48;3.46;3.7	5.23	-2.62	0.06152	.	0.852257	0.10434	N	0.675219	T	0.04407	0.0121	L	0.58101	1.795	0.09310	N	1	B;B;B	0.29037	0.231;0.231;0.231	B;B;B	0.19148	0.024;0.016;0.024	T	0.46748	-0.9169	10	0.08179	T	0.78	-8.8433	2.4071	0.04415	0.2935:0.1212:0.4623:0.123	.	115;115;115	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	T	115	ENSP00000308597:A115T;ENSP00000315914:A115T;ENSP00000410427:A115T	ENSP00000308597:A115T	A	+	1	0	DLEC1	38056063	0.011000	0.17503	0.001000	0.08648	0.245000	0.25701	0.042000	0.13949	-0.618000	0.05656	-0.436000	0.05848	GCA		0.642	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337		4	114	0	0	0	0	4	114				
SNRK	54861	broad.mit.edu	37	3	43381993	43381993	+	Splice_Site	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:43381993T>C	ENST00000296088.7	+	5	1248		c.e5+2		SNRK_ENST00000454177.1_Splice_Site|SNRK_ENST00000437827.1_Splice_Site|SNRK_ENST00000429705.2_Splice_Site	NM_017719.4	NP_060189.3			SNF related kinase											breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATTGTAGAGTACGTCAATGC	0.488																																						uc003cms.3		NA																	0				ovary(3)|stomach(1)|breast(1)|skin(1)	6						c.e5+2		SNF related kinase							38.0	38.0	38.0					3																	43381993		2006	4170	6176	SO:0001630	splice_region_variant	54861				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr3:43381993T>C	D43636	CCDS43075.1	3p22.1	2005-08-09			ENSG00000163788	ENSG00000163788			30598	protein-coding gene	gene with protein product		612760				8654423, 7788527	Standard	NM_017719		Approved	FLJ20224, HSNFRK, KIAA0096	uc003cmt.4	Q9NRH2	OTTHUMG00000156491	ENST00000296088.7:c.944+2T>C	3.37:g.43381993T>C						SNRK_uc003cmt.3_Splice_Site_p.E315_splice|SNRK_uc010hik.2_Splice_Site_p.E315_splice|SNRK_uc011azr.1_Splice_Site_p.E109_splice	p.E315_splice	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)	5	1276	+									Splice_Site	SNP	ENST00000296088.7	37	c.944_splice	CCDS43075.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157883	0.78114	.	.	ENSG00000163788	ENST00000454177;ENST00000429705;ENST00000296088;ENST00000437827	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5962	0.76583	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SNRK	43356997	1.000000	0.71417	0.985000	0.45067	0.755000	0.42902	7.905000	0.87416	2.157000	0.67596	0.533000	0.62120	.		0.488	SNRK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344325.1	NM_017719	Intron	5	38	0	0	0	0	5	38				
COL7A1	1294	broad.mit.edu	37	3	48629337	48629337	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:48629337C>G	ENST00000328333.8	-	10	1458	c.1351G>C	c.(1351-1353)Gag>Cag	p.E451Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.E451Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	451	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACCAGTCTCACGCCGCCAT	0.632																																						uc003ctz.2		NA																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(1351-1353)GAG>CAG		alpha 1 type VII collagen precursor							64.0	72.0	70.0					3																	48629337		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48629337C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1351G>C	3.37:g.48629337C>G	ENSP00000332371:p.Glu451Gln						p.E451Q	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	10	1352	-			451			Nonhelical region (NC1).|Fibronectin type-III 3.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.1351G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.683426	0.29872	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57595	0.39;0.39	4.76	4.76	0.60689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.156867	0.29321	N	0.012499	T	0.60261	0.2255	L	0.44542	1.39	0.30892	N	0.730289	D	0.59357	0.985	P	0.60012	0.867	T	0.58352	-0.7651	10	0.21014	T	0.42	.	16.324	0.82965	0.0:1.0:0.0:0.0	.	451	Q02388	CO7A1_HUMAN	Q	451	ENSP00000332371:E451Q;ENSP00000412569:E451Q	ENSP00000332371:E451Q	E	-	1	0	COL7A1	48604341	0.997000	0.39634	1.000000	0.80357	0.856000	0.48823	3.408000	0.52651	2.366000	0.80165	0.462000	0.41574	GAG		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		14	105	0	0	0	0	14	105				
SLMAP	7871	broad.mit.edu	37	3	57875802	57875802	+	Silent	SNP	G	G	A	rs148417939		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:57875802G>A	ENST00000428312.1	+	13	1378	c.1284G>A	c.(1282-1284)gcG>gcA	p.A428A	SLMAP_ENST00000442599.2_5'UTR|SLMAP_ENST00000295951.3_Silent_p.A411A|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000383718.3_Silent_p.A424A|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000295952.3_Silent_p.A411A|SLMAP_ENST00000449503.2_Silent_p.A390A			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	428					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|integral component of plasma membrane (GO:0005887)|smooth endoplasmic reticulum (GO:0005790)				endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TAACCAAAGCGGTAGAAGAAA	0.393																																						uc003dje.1		NA																	0					0						c.(1282-1284)GCG>GCA		sarcolemma associated protein		G		0,4406		0,0,2203	147.0	139.0	142.0		1233	1.9	1.0	3	dbSNP_134	142	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	SLMAP	NM_007159.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		411/812	57875802	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7871				muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding	g.chr3:57875802G>A	AF100750	CCDS33774.1	3p21.2-p14.3	2008-07-18			ENSG00000163681	ENSG00000163681			16643	protein-coding gene	gene with protein product	"""Sarcolemmal-associated protein"""	602701				9405447, 11042152	Standard	NM_007159		Approved	SLAP, KIAA1601	uc003djd.1	Q14BN4	OTTHUMG00000133764	ENST00000428312.1:c.1284G>A	3.37:g.57875802G>A						SLMAP_uc003djc.1_Silent_p.A424A|SLMAP_uc003djd.1_Silent_p.A411A|SLMAP_uc003djf.1_Silent_p.A390A|SLMAP_uc003djg.1_Intron|SLMAP_uc011bez.1_5'UTR|SLMAP_uc011bfa.1_5'UTR|SLMAP_uc003djh.2_5'UTR|SLMAP_uc003dji.1_5'UTR	p.A428A	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)	13	1489	+			428			Cytoplasmic (Potential).		Q14C95|Q6AI54|Q6UXC9|Q6ZVQ8|Q8NCW9|Q9H297|Q9HCH1|Q9Y681	Silent	SNP	ENST00000428312.1	37	c.1284G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.076|1.076	-0.668431|-0.668431	0.03403|0.03403	0.0|0.0	2.33E-4|2.33E-4	ENSG00000163681|ENSG00000163681	ENST00000438794|ENST00000417128	.|.	.|.	.|.	5.62|5.62	1.9|1.9	0.25705|0.25705	.|.	.|.	.|.	.|.	.|.	T|T	0.57344|0.57344	0.2047|0.2047	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.50048|0.50048	-0.8873|-0.8873	4|4	.|.	.|.	.|.	-1.0642|-1.0642	8.7662|8.7662	0.34704|0.34704	0.2913:0.0:0.7087:0.0|0.2913:0.0:0.7087:0.0	.|.	.|.	.|.	.|.	S|Q	7|12	.|.	.|.	G|R	+|+	1|2	0|0	SLMAP|SLMAP	57850842|57850842	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.201000|0.201000	0.24016|0.24016	0.621000|0.621000	0.24418|0.24418	0.345000|0.345000	0.23873|0.23873	-0.827000|-0.827000	0.03088|0.03088	GGT|CGG		0.393	SLMAP-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351584.1	NM_007159		3	51	0	0	0	0	3	51				
ALCAM	214	broad.mit.edu	37	3	105253681	105253681	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:105253681A>G	ENST00000306107.5	+	6	1222	c.722A>G	c.(721-723)gAt>gGt	p.D241G	ALCAM_ENST00000472644.2_Missense_Mutation_p.D241G|ALCAM_ENST00000389927.4_Missense_Mutation_p.D50G|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000486979.2_Missense_Mutation_p.D190G	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	241					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|motor neuron axon guidance (GO:0008045)|signal transduction (GO:0007165)	axon (GO:0030424)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						GCAGTATTTGATATTTACTGT	0.323																																						uc003dvx.2		NA																	0				ovary(2)|breast(1)	3						c.(721-723)GAT>GGT		activated leukocyte cell adhesion molecule							69.0	66.0	67.0					3																	105253681		2203	4300	6503	SO:0001583	missense	214				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr3:105253681A>G	AK054632	CCDS33810.1, CCDS58841.1	3q13.1	2013-01-29	2002-08-08		ENSG00000170017	ENSG00000170017		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	400	protein-coding gene	gene with protein product		601662	"""activated leucocyte cell adhesion molecule"""			7760007	Standard	NM_001627		Approved	CD166, MEMD	uc003dvx.3	Q13740	OTTHUMG00000159192	ENST00000306107.5:c.722A>G	3.37:g.105253681A>G	ENSP00000305988:p.Asp241Gly					ALCAM_uc003dvw.1_Missense_Mutation_p.D241G|ALCAM_uc003dvy.2_Missense_Mutation_p.D241G|ALCAM_uc011bhh.1_Missense_Mutation_p.D190G|ALCAM_uc010hpp.2_Missense_Mutation_p.D50G	p.D241G	NM_001627	NP_001618	Q13740	CD166_HUMAN			6	1262	+			241			Extracellular (Potential).		B2RNS3|B4DTU0|O60892|Q1HGM8|Q1HGM9|Q6PEY4|Q6ZS95	Missense_Mutation	SNP	ENST00000306107.5	37	c.722A>G	CCDS33810.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.309|8.309	0.821627|0.821627	0.16678|0.16678	.|.	.|.	ENSG00000170017|ENSG00000170017	ENST00000306107;ENST00000472644;ENST00000486979;ENST00000389927|ENST00000465413	T;T;T;T|.	0.59083|.	0.42;0.78;0.29;0.99|.	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	0.362338|.	0.34725|.	N|.	0.003736|.	T|.	0.46678|.	0.1405|.	L|L	0.33485|0.33485	1.01|1.01	0.31775|0.31775	N|N	0.631662|0.631662	P;B;B|.	0.40578|.	0.722;0.051;0.051|.	B;B;B|.	0.43274|.	0.414;0.018;0.018|.	T|.	0.53272|.	-0.8462|.	10|.	0.56958|.	D|.	0.05|.	-19.5988|-19.5988	15.2449|15.2449	0.73499|0.73499	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	50;241;241|.	Q6ZS95;B4DTU0;Q13740|.	.;.;CD166_HUMAN|.	G|W	241;241;190;50|88	ENSP00000305988:D241G;ENSP00000419236:D241G;ENSP00000418213:D190G;ENSP00000374577:D50G|.	ENSP00000305988:D241G|.	D|X	+|+	2|3	0|0	ALCAM|ALCAM	106736371|106736371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.755000|0.755000	0.42902|0.42902	6.331000|6.331000	0.72929|0.72929	2.060000|2.060000	0.61445|0.61445	0.528000|0.528000	0.53228|0.53228	GAT|TGA		0.323	ALCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353764.1	NM_001627		6	31	0	0	0	0	6	31				
STXBP5L	9515	broad.mit.edu	37	3	120977900	120977900	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:120977900C>T	ENST00000273666.6	+	18	2114	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	STXBP5L_ENST00000492541.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000497029.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R615W	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	615					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGAAGACACGGCCAGTGCG	0.373																																						uc003eec.3		NA																	0				ovary(7)|skin(2)	9						c.(1843-1845)CGG>TGG		syntaxin binding protein 5-like							105.0	100.0	102.0					3																	120977900		1879	4115	5994	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120977900C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1843C>T	3.37:g.120977900C>T	ENSP00000273666:p.Arg615Trp					STXBP5L_uc011bji.1_Missense_Mutation_p.R615W	p.R615W	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	18	1983	+			615			WD 9.		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1843C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.299658	0.81136	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.38077	1.85;1.84;1.64;1.16;1.65;1.87	5.22	3.35	0.38373	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.57974	-0.7718	10	0.87932	D	0	-21.3557	14.239	0.65945	0.272:0.728:0.0:0.0	.	615;615	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	W	615	ENSP00000273666:R615W;ENSP00000420019:R615W;ENSP00000419627:R615W;ENSP00000420287:R615W;ENSP00000420666:R615W;ENSP00000420167:R615W	ENSP00000273666:R615W	R	+	1	2	STXBP5L	122460590	0.994000	0.37717	0.997000	0.53966	0.982000	0.71751	2.664000	0.46783	0.631000	0.30412	0.650000	0.86243	CGG		0.373	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			4	32	0	0	0	0	4	32				
PIK3CA	5290	broad.mit.edu	37	3	178938934	178938934	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr3:178938934G>A	ENST00000263967.3	+	14	2333	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	726			E -> K (in MCAP). {ECO:0000269|PubMed:22729224}.		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.E726K(8)		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)	GAAGAAGGATGAAACACAAAA	0.428		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		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		8	Substitution - Missense(8)	p.E726K(2)	lung(4)|large_intestine(2)|breast(2)	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.(2176-2178)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							89.0	78.0	82.0					3																	178938934		1917	4118	6035	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.chr3:178938934G>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.2176G>A	3.37:g.178938934G>A	ENSP00000263967:p.Glu726Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E726K	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)		14	2333	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		726					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.2176G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.308869	0.60305	.	.	ENSG00000121879	ENST00000263967	T	0.80653	-1.4	5.67	5.67	0.87782	Protein kinase-like domain (1);	0.166180	0.38778	U	0.001568	T	0.73450	0.3588	L	0.36672	1.1	0.80722	D	1	P	0.46064	0.872	B	0.42738	0.396	T	0.71401	-0.4604	10	0.02654	T	1	-19.3819	19.7612	0.96319	0.0:0.0:1.0:0.0	.	726	P42336	PK3CA_HUMAN	K	726	ENSP00000263967:E726K	ENSP00000263967:E726K	E	+	1	0	PIK3CA	180421628	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.476000	0.97823	2.670000	0.90874	0.655000	0.94253	GAA		0.428	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	28	0	0	0	0	8	28				
CEP135	9662	broad.mit.edu	37	4	56830508	56830508	+	Silent	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:56830508C>A	ENST00000257287.4	+	7	892	c.768C>A	c.(766-768)gtC>gtA	p.V256V		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	256					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CCCCTGATGTCCTTTCTCTGG	0.353																																						uc003hbi.2		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(766-768)GTC>GTA		centrosome protein 4							138.0	137.0	137.0					4																	56830508		2203	4300	6503	SO:0001819	synonymous_variant	9662				centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding	g.chr4:56830508C>A	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.768C>A	4.37:g.56830508C>A						CEP135_uc003hbj.2_5'Flank|CEP135_uc010igz.1_Silent_p.V86V	p.V256V	NM_025009	NP_079285	Q66GS9	CP135_HUMAN			7	1002	+	Glioma(25;0.08)|all_neural(26;0.101)		256			Potential.		B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	ENST00000257287.4	37	c.768C>A	CCDS33986.1																																																																																				0.353	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009		5	38	1	0	1.24e-05	1.35e-05	5	38				
UGT2B27P	54569	broad.mit.edu	37	4	69885688	69885688	+	IGR	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:69885688T>C								UGT2A3 (68179 upstream) : UGT2B7 (31505 downstream)																							TCTTGTAGTTTTTTCATAAGT	0.333																																						uc011cao.1		NA																	0				skin(3)|ovary(2)	5						c.(301-303)AAA>GAA		RecName: Full=UDP-glucuronosyltransferase 2B28;          Short=UDPGT 2B28;          EC=2.4.1.17; Flags: Precursor;							58.0	43.0	47.0					4																	69885688		692	1589	2281	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69885688T>C																													4.37:g.69885688T>C						UGT2B10_uc011can.1_Missense_Mutation_p.K101E	p.K101E			P36537	UDB10_HUMAN			4	437	-			138						Missense_Mutation	SNP		37	c.301A>G																																																																																				0	0.333									5	35	0	0	0	0	5	35				
ENAM	10117	broad.mit.edu	37	4	71509145	71509145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:71509145C>T	ENST00000396073.3	+	9	2283	c.2002C>T	c.(2002-2004)Caa>Taa	p.Q668*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	668					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTCCTGGACAAAATAGATG	0.443																																						uc011caw.1		NA																	0				ovary(3)	3						c.(2002-2004)CAA>TAA		enamelin precursor							93.0	96.0	95.0					4																	71509145		2203	4300	6503	SO:0001587	stop_gained	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71509145C>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2002C>T	4.37:g.71509145C>T	ENSP00000379383:p.Gln668*						p.Q668*	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		9	2283	+			668					Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	ENST00000396073.3	37	c.2002C>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	C	39	7.351699	0.98231	.	.	ENSG00000132464	ENST00000396073	.	.	.	5.77	5.77	0.91146	.	0.698349	0.13249	N	0.402210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-1.2569	15.4887	0.75587	0.0:1.0:0.0:0.0	.	.	.	.	X	668	.	ENSP00000379383:Q668X	Q	+	1	0	ENAM	71728009	0.981000	0.34729	0.293000	0.24932	0.740000	0.42216	4.184000	0.58323	2.735000	0.93741	0.655000	0.94253	CAA		0.443	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889		9	74	0	0	0	0	9	74				
NUP54	53371	broad.mit.edu	37	4	77057369	77057369	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:77057369G>A	ENST00000264883.3	-	4	632	c.492C>T	c.(490-492)ttC>ttT	p.F164F	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000514987.1_Silent_p.F116F	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	164	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTTCTTGTGTGAATTCCACTG	0.323																																						uc003hjs.2		NA																	0				ovary(1)|lung(1)	2						c.(490-492)TTC>TTT		nucleoporin 54kDa							80.0	86.0	84.0					4																	77057369		2203	4300	6503	SO:0001819	synonymous_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77057369G>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.492C>T	4.37:g.77057369G>A						NUP54_uc010ije.2_Intron|NUP54_uc011cbs.1_Intron|NUP54_uc011cbt.1_Silent_p.F116F|NUP54_uc003hjt.2_Intron	p.F164F	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN			4	620	-			164			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	ENST00000264883.3	37	c.492C>T	CCDS3576.1																																																																																				0.323	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			5	61	0	0	0	0	5	61				
NAP1L5	266812	broad.mit.edu	37	4	89618774	89618774	+	Silent	SNP	A	A	G	rs561100902	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:89618774A>G	ENST00000323061.5	-	1	612	c.132T>C	c.(130-132)ccT>ccC	p.P44P	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	44					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		CCGCGCTGTCAGGGTCACCAg	0.642																																						uc003hrx.2		NA																	0				skin(1)	1						c.(130-132)CCT>CCC		nucleosome assembly protein 1-like 5							46.0	55.0	52.0					4																	89618774		2201	4298	6499	SO:0001819	synonymous_variant	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618774A>G	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.132T>C	4.37:g.89618774A>G						HERC3_uc003hrw.1_Intron|HERC3_uc011cdn.1_Intron|HERC3_uc011cdo.1_Intron	p.P44P	NM_153757	NP_715638	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	250	-			44						Silent	SNP	ENST00000323061.5	37	c.132T>C	CCDS3632.1																																																																																				0.642	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		3	109	0	0	0	0	3	109				
PDLIM5	10611	broad.mit.edu	37	4	95497118	95497118	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:95497118G>A	ENST00000317968.4	+	5	779	c.643G>A	c.(643-645)Gag>Aag	p.E215K	PDLIM5_ENST00000542407.1_Missense_Mutation_p.E93K|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000380180.3_Missense_Mutation_p.E106K|PDLIM5_ENST00000437932.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000514743.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000450793.1_Missense_Mutation_p.E106K	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	215					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CGTGTGTTCCGAGACTTCTCA	0.512																																						uc003hti.2		NA																	0				ovary(1)|skin(1)	2						c.(643-645)GAG>AAG		PDZ and LIM domain 5 isoform a							69.0	67.0	67.0					4																	95497118		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95497118G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.643G>A	4.37:g.95497118G>A	ENSP00000321746:p.Glu215Lys					PDLIM5_uc003htf.2_Intron|PDLIM5_uc003htg.2_Missense_Mutation_p.E106K|PDLIM5_uc011cdx.1_Missense_Mutation_p.E106K|PDLIM5_uc003hth.2_Missense_Mutation_p.E106K|PDLIM5_uc003htj.2_Intron|PDLIM5_uc003htk.2_Missense_Mutation_p.E106K|PDLIM5_uc011cdy.1_Missense_Mutation_p.E93K	p.E215K	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	5	794	+		Hepatocellular(203;0.114)	215					A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.643G>A	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140672	0.94560	.	.	ENSG00000163110	ENST00000437932;ENST00000380180;ENST00000450793;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000508216;ENST00000514743	T;T;T;T;T;T;T;T	0.61859	0.52;1.71;1.69;0.55;0.51;0.07;1.71;0.48	5.27	5.27	0.74061	.	0.110138	0.64402	D	0.000009	T	0.58308	0.2113	L	0.47716	1.5	0.52501	D	0.999952	P;D;D;B;P	0.58970	0.95;0.957;0.984;0.059;0.681	B;B;P;B;B	0.47162	0.359;0.284;0.54;0.036;0.026	T	0.55490	-0.8133	10	0.27082	T	0.32	.	18.8986	0.92433	0.0:0.0:1.0:0.0	.	106;106;215;106;106	E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2	.;.;PDLI5_HUMAN;.;.	K	106;106;106;215;106;93;106;106	ENSP00000398469:E106K;ENSP00000369527:E106K;ENSP00000401579:E106K;ENSP00000321746:E215K;ENSP00000424297:E106K;ENSP00000442187:E93K;ENSP00000426804:E106K;ENSP00000424360:E106K	ENSP00000321746:E215K	E	+	1	0	PDLIM5	95716141	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.135000	0.89608	2.444000	0.82710	0.650000	0.86243	GAG		0.512	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			11	60	0	0	0	0	11	60				
LRIT3	345193	broad.mit.edu	37	4	110791477	110791477	+	Silent	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:110791477G>T	ENST00000594814.1	+	4	1572	c.1572G>T	c.(1570-1572)ggG>ggT	p.G524G	LRIT3_ENST00000379920.3_Silent_p.G479G|LRIT3_ENST00000327908.3_Silent_p.G341G|LRIT3_ENST00000409621.2_Silent_p.G341G	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	524	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		AGTATGGTGGGAAGGACCTGC	0.483																																						uc003hzx.3		NA																	0					0						c.(1435-1437)GGG>GGT		leucine-rich repeat, immunoglobulin-like and							137.0	126.0	129.0					4																	110791477		2203	4300	6503	SO:0001819	synonymous_variant	345193					integral to membrane		g.chr4:110791477G>T	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1572G>T	4.37:g.110791477G>T						LRIT3_uc003hzw.3_Silent_p.G341G	p.G479G	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	3	1630	+			479			Fibronectin type-III.		C9J1C2|Q6ZTG1	Silent	SNP	ENST00000594814.1	37	c.1437G>T	CCDS3688.3																																																																																				0.483	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		16	114	1	0	2e-07	2.19e-07	16	114				
KIAA1109	84162	broad.mit.edu	37	4	123159467	123159467	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:123159467G>A	ENST00000264501.4	+	28	4168	c.3795G>A	c.(3793-3795)gaG>gaA	p.E1265E	KIAA1109_ENST00000455637.1_Silent_p.E1265E|KIAA1109_ENST00000388738.3_Silent_p.E1265E|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1265					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTCAAAAAGAGTTCTTGCATG	0.388																																						uc003ieh.2		NA																	0				ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3793-3795)GAG>GAA		fragile site-associated protein							128.0	119.0	122.0					4																	123159467		1871	4116	5987	SO:0001819	synonymous_variant	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123159467G>A	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.3795G>A	4.37:g.123159467G>A						KIAA1109_uc003iei.1_Silent_p.E1018E|KIAA1109_uc010ins.1_Silent_p.E608E|KIAA1109_uc003iek.2_5'Flank	p.E1265E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			26	3840	+			1265					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Silent	SNP	ENST00000264501.4	37	c.3795G>A	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	5.981	0.364875	0.11296	.	.	ENSG00000138688	ENST00000424425	.	.	.	5.92	-3.99	0.04069	.	.	.	.	.	T	0.40372	0.1114	.	.	.	0.54753	D	0.999985	.	.	.	.	.	.	T	0.37174	-0.9717	4	.	.	.	.	3.786	0.08700	0.2266:0.0908:0.4824:0.2003	.	.	.	.	I	1097	.	.	V	+	1	0	KIAA1109	123378917	0.988000	0.35896	0.671000	0.29857	0.843000	0.47879	0.061000	0.14366	-0.488000	0.06726	0.585000	0.79938	GTT		0.388	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		8	60	0	0	0	0	8	60				
FAT1	2195	broad.mit.edu	37	4	187535344	187535344	+	Splice_Site	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr4:187535344C>T	ENST00000441802.2	-	12	9439		c.e12+1			NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1						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						TCCATCATTACCTGTGTCTGG	0.368										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.e12+1		FAT tumor suppressor 1 precursor							203.0	192.0	195.0					4																	187535344		1852	4089	5941	SO:0001630	splice_region_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.chr4:187535344C>T	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.9229+1G>A	4.37:g.187535344C>T		HNSCC(5;0.00058)					p.G3077_splice	NM_005245	NP_005236	Q14517	FAT1_HUMAN			12	9417	-									Splice_Site	SNP	ENST00000441802.2	37	c.9229_splice	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775412	0.90108	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.485	0.90825	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAT1	187772338	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.320000	0.79064	2.608000	0.88229	0.650000	0.86243	.		0.368	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	Intron	36	108	0	0	0	0	36	108				
SLC6A3	6531	broad.mit.edu	37	5	1416262	1416262	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:1416262C>A	ENST00000270349.9	-	7	1109	c.982G>T	c.(982-984)Gtg>Ttg	p.V328L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V328L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	328					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	GCGATCAGCACCCCGAACCCC	0.617																																						uc003jck.2		NA																	0				ovary(3)|breast(2)|pancreas(1)	6						c.(982-984)GTG>TTG		solute carrier family 6 (neurotransmitter	Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)						105.0	93.0	97.0					5																	1416262		2203	4300	6503	SO:0001583	missense	6531				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		g.chr5:1416262C>A		CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.982G>T	5.37:g.1416262C>A	ENSP00000270349:p.Val328Leu						p.V328L	NM_001044	NP_001035	Q01959	SC6A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		7	1103	-			328			Helical; Name=6; (Potential).		A2RUN4|Q14996	Missense_Mutation	SNP	ENST00000270349.9	37	c.982G>T	CCDS3863.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919030	0.73098	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74632	-0.86;-0.86;-0.86	3.88	3.88	0.44766	.	0.067336	0.64402	D	0.000019	D	0.89033	0.6600	H	0.94734	3.575	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.91817	0.5464	10	0.66056	D	0.02	.	13.7023	0.62616	0.0:1.0:0.0:0.0	.	328	Q01959	SC6A3_HUMAN	L	328;328;254	ENSP00000270349:V328L;ENSP00000399806:V328L;ENSP00000429101:V254L	ENSP00000270349:V328L	V	-	1	0	SLC6A3	1469262	1.000000	0.71417	0.930000	0.37139	0.374000	0.29953	7.015000	0.76387	1.891000	0.54761	0.561000	0.74099	GTG		0.617	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253650.3	NM_001044		4	61	1	0	0.00909568	0.00947732	4	61				
MARCH6	10299	broad.mit.edu	37	5	10423860	10423860	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:10423860G>C	ENST00000274140.5	+	23	2429	c.2297G>C	c.(2296-2298)gGa>gCa	p.G766A	MARCH6_ENST00000503788.1_Missense_Mutation_p.G661A|MARCH6_ENST00000449913.2_Missense_Mutation_p.G718A|MARCH6_ENST00000510792.1_Missense_Mutation_p.G464A	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	766					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGGGCACTTGGAGTCCTGCAT	0.358																																						uc003jet.1		NA																	0				ovary(1)|breast(1)	2						c.(2296-2298)GGA>GCA		membrane-associated ring finger (C3HC4) 6							87.0	82.0	84.0					5																	10423860		2203	4300	6503	SO:0001583	missense	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10423860G>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.2297G>C	5.37:g.10423860G>C	ENSP00000274140:p.Gly766Ala					MARCH6_uc011cmu.1_Missense_Mutation_p.G718A|MARCH6_uc003jeu.1_Missense_Mutation_p.G464A|MARCH6_uc011cmv.1_Missense_Mutation_p.G661A	p.G766A	NM_005885	NP_005876	O60337	MARH6_HUMAN			23	2480	+			766			Helical; (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Missense_Mutation	SNP	ENST00000274140.5	37	c.2297G>C	CCDS34135.1	.	.	.	.	.	.	.	.	.	.	G	32	5.117265	0.94385	.	.	ENSG00000145495	ENST00000449913;ENST00000503788;ENST00000274140;ENST00000510792	D;D;D;D	0.95001	-2.28;-3.5;-2.29;-3.58	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	D	0.97642	0.9227	M	0.86502	2.82	0.80722	D	1	D;D;P;D	0.71674	0.998;0.971;0.944;0.989	D;P;P;P	0.71656	0.974;0.642;0.572;0.757	D	0.97912	1.0309	10	0.87932	D	0	-12.5327	19.9966	0.97387	0.0:0.0:1.0:0.0	.	661;718;346;766	B4DKJ2;B4DT33;B2RBJ1;O60337	.;.;.;MARH6_HUMAN	A	718;661;766;464	ENSP00000414643:G718A;ENSP00000425930:G661A;ENSP00000274140:G766A;ENSP00000424512:G464A	ENSP00000274140:G766A	G	+	2	0	MARCH6	10476860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.326000	0.96389	2.798000	0.96311	0.655000	0.94253	GGA		0.358	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		3	25	0	0	0	0	3	25				
CTNND2	1501	broad.mit.edu	37	5	11346704	11346704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:11346704G>A	ENST00000304623.8	-	9	1597	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q379*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q470*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q133*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q37*	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	470					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CCTGTGCGCTGCAAGGGGACG	0.607																																						uc003jfa.1		NA																	0				large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(1408-1410)CAG>TAG		catenin (cadherin-associated protein), delta 2							33.0	37.0	36.0					5																	11346704		2203	4300	6503	SO:0001587	stop_gained	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11346704G>A	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1408C>T	5.37:g.11346704G>A	ENSP00000307134:p.Gln470*					CTNND2_uc010itt.2_Nonsense_Mutation_p.Q379*|CTNND2_uc011cmy.1_Nonsense_Mutation_p.Q133*|CTNND2_uc011cmz.1_Nonsense_Mutation_p.Q37*|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Nonsense_Mutation_p.Q37*	p.Q470*	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			9	1553	-			470					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	ENST00000304623.8	37	c.1408C>T	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	39	7.756991	0.98471	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	.	.	.	5.79	5.79	0.91817	.	0.364719	0.22083	N	0.064874	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-8.0704	20.0943	0.97832	0.0:0.0:1.0:0.0	.	.	.	.	X	470;470;379;37;133	.	ENSP00000307134:Q470X	Q	-	1	0	CTNND2	11399704	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.434000	0.97515	2.758000	0.94735	0.579000	0.79373	CAG		0.607	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		7	58	0	0	0	0	7	58				
MAST4	375449	broad.mit.edu	37	5	66461496	66461496	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66461496G>A	ENST00000403625.2	+	29	6784	c.6489G>A	c.(6487-6489)ccG>ccA	p.P2163P	MAST4_ENST00000405643.1_Silent_p.P1984P|MAST4_ENST00000404260.3_Silent_p.P2166P|MAST4_ENST00000261569.7_Silent_p.P1969P|MAST4_ENST00000403666.1_Silent_p.P1974P	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	2166	Pro-rich.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCAGAGAGCCGGGGGCCAAGC	0.682																																						uc003jut.1		NA																	0				lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1)	13						c.(5920-5922)CCG>CCA		microtubule associated serine/threonine kinase							13.0	17.0	16.0					5																	66461496		1961	4124	6085	SO:0001819	synonymous_variant	375449					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:66461496G>A	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.6489G>A	5.37:g.66461496G>A						MAST4_uc003juw.2_Silent_p.P1902P|MAST4_uc003jux.2_5'Flank	p.P1974P	NM_015183	NP_055998	O15021	MAST4_HUMAN		Lung(70;0.011)	28	5990	+		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)	2166			Pro-rich.		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Silent	SNP	ENST00000403625.2	37	c.5922G>A	CCDS54861.1	.	.	.	.	.	.	.	.	.	.	G	6.097	0.386097	0.11524	.	.	ENSG00000069020	ENST00000443808	.	.	.	5.58	-11.2	0.00127	.	.	.	.	.	T	0.12689	0.0308	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.09729	-1.0661	4	.	.	.	0.0174	0.6965	0.00900	0.3575:0.1936:0.2407:0.2082	.	.	.	.	R	1220	.	.	G	+	1	0	MAST4	66497252	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-4.873000	0.00175	-3.122000	0.00238	-0.137000	0.14449	GGG		0.682	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			3	11	0	0	0	0	3	11				
CD180	4064	broad.mit.edu	37	5	66479817	66479817	+	Missense_Mutation	SNP	C	C	T	rs199660574		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:66479817C>T	ENST00000256447.4	-	3	1011	c.854G>A	c.(853-855)cGc>cAc	p.R285H		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	285					B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GTCAGAGAAGCGGTGTTCCTG	0.473																																						uc003juy.2		NA																	0				ovary(1)	1						c.(853-855)CGC>CAC		CD180 molecule precursor		C	HIS/ARG	0,4406		0,0,2203	117.0	114.0	115.0		854	-9.6	0.0	5		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	CD180	NM_005582.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	285/662	66479817	1,13005	2203	4300	6503	SO:0001583	missense	4064				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity	g.chr5:66479817C>T	D83597	CCDS3992.1	5q12	2008-02-05	2006-03-28	2005-06-07	ENSG00000134061	ENSG00000134061		"""CD molecules"""	6726	protein-coding gene	gene with protein product		602226	"""lymphocyte antigen 64 (mouse) homolog, radioprotective, 105kD"", ""CD180 antigen"""	LY64		9763566, 8975706	Standard	NM_005582		Approved	RP105, Ly78	uc003juy.2	Q99467	OTTHUMG00000131229	ENST00000256447.4:c.854G>A	5.37:g.66479817C>T	ENSP00000256447:p.Arg285His						p.R285H	NM_005582	NP_005573	Q99467	CD180_HUMAN		Lung(70;0.0046)	3	1002	-		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)	285			Extracellular (Potential).|LRR 8.		B2R7Z7|Q32MM5	Missense_Mutation	SNP	ENST00000256447.4	37	c.854G>A	CCDS3992.1	.	.	.	.	.	.	.	.	.	.	c	0.045	-1.270340	0.01421	0.0	1.16E-4	ENSG00000134061	ENST00000256447	T	0.25250	1.81	4.99	-9.6	0.00553	.	2.152150	0.02027	N	0.048226	T	0.08358	0.0208	N	0.02674	-0.535	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.22626	-1.0211	10	0.36615	T	0.2	.	5.3776	0.16174	0.1005:0.4563:0.1304:0.3129	.	285	Q99467	CD180_HUMAN	H	285	ENSP00000256447:R285H	ENSP00000256447:R285H	R	-	2	0	CD180	66515573	0.000000	0.05858	0.001000	0.08648	0.557000	0.35523	-0.805000	0.04530	-1.431000	0.01982	-1.137000	0.01932	CGC		0.473	CD180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253973.2	NM_005582		12	70	0	0	0	0	12	70				
CCDC125	202243	broad.mit.edu	37	5	68590675	68590675	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:68590675G>A	ENST00000396496.2	-	9	976	c.869C>T	c.(868-870)tCt>tTt	p.S290F	CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S290F|CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.S165F			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	290						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)		TCTGGCACAAGAACAGGGGTT	0.463																																						uc003jvv.1		NA																	0					0						c.(868-870)TCT>TTT		coiled-coil domain containing 125							147.0	149.0	148.0					5																	68590675		2203	4300	6503	SO:0001583	missense	202243					cytoplasm		g.chr5:68590675G>A	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.869C>T	5.37:g.68590675G>A	ENSP00000379754:p.Ser290Phe					CCDC125_uc003jvx.1_Missense_Mutation_p.S289F|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.S165F	p.S290F	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)	8	912	-		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	290					Q86Z19	Missense_Mutation	SNP	ENST00000396496.2	37	c.869C>T	CCDS4000.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351034	0.82132	.	.	ENSG00000183323	ENST00000396496;ENST00000396499;ENST00000511257	T;T;T	0.53857	0.6;0.6;0.6	5.0	5.0	0.66597	.	0.460630	0.25744	N	0.028585	T	0.63768	0.2539	L	0.59436	1.845	0.38209	D	0.940401	P;D	0.57571	0.925;0.98	P;P	0.56700	0.568;0.804	T	0.68988	-0.5264	10	0.59425	D	0.04	.	15.3195	0.74109	0.0:0.0:1.0:0.0	.	165;290	Q86Z20-2;Q86Z20	.;CC125_HUMAN	F	290;290;165	ENSP00000379754:S290F;ENSP00000379756:S290F;ENSP00000426795:S165F	ENSP00000379754:S290F	S	-	2	0	CCDC125	68626431	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	3.940000	0.56599	2.598000	0.87819	0.650000	0.86243	TCT		0.463	CCDC125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254027.4	NM_176816		14	171	0	0	0	0	14	171				
LNPEP	4012	broad.mit.edu	37	5	96314945	96314945	+	Silent	SNP	T	T	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96314945T>C	ENST00000231368.5	+	2	815	c.123T>C	c.(121-123)ccT>ccC	p.P41P	LNPEP_ENST00000395770.3_Silent_p.P27P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	41					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|membrane organization (GO:0061024)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|early endosome lumen (GO:0031905)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		CTCTAGAGCCTGATGAGGTGG	0.502																																						uc003kmv.1		NA																	0				ovary(3)|breast(1)	4						c.(121-123)CCT>CCC		leucyl/cystinyl aminopeptidase isoform 1							81.0	89.0	86.0					5																	96314945		2203	4300	6503	SO:0001819	synonymous_variant	4012				cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96314945T>C	D50810	CCDS4087.1, CCDS43346.1	5q15	2011-07-25			ENSG00000113441	ENSG00000113441	3.4.11.3		6656	protein-coding gene	gene with protein product	"""cystinyl aminopeptidase"", ""placental leucine aminopeptidase"""	151300				8550619	Standard	NM_175920		Approved	CAP, PLAP, P-LAP	uc003kmw.1	Q9UIQ6	OTTHUMG00000128719	ENST00000231368.5:c.123T>C	5.37:g.96314945T>C						LNPEP_uc003kmw.1_Silent_p.P27P	p.P41P	NM_005575	NP_005566	Q9UIQ6	LCAP_HUMAN		COAD - Colon adenocarcinoma(37;0.072)	2	637	+		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)	41			Cytoplasmic (Potential).		O00769|Q15145|Q59H76|Q9TNQ2|Q9TNQ3|Q9UIQ7	Silent	SNP	ENST00000231368.5	37	c.123T>C	CCDS4087.1																																																																																				0.502	LNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250624.1	NM_005575		3	111	0	0	0	0	3	111				
RIOK2	55781	broad.mit.edu	37	5	96498921	96498921	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:96498921C>T	ENST00000283109.3	-	10	1571	c.1503G>A	c.(1501-1503)gtG>gtA	p.V501V	CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	501	Protein kinase.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCTTCTGTTTCACCAGTTCCT	0.353																																						uc003kmz.2		NA																	0				kidney(1)	1						c.(1501-1503)GTG>GTA		RIO kinase 2 isoform 1							103.0	91.0	95.0					5																	96498921		2202	4299	6501	SO:0001819	synonymous_variant	55781						ATP binding|protein serine/threonine kinase activity	g.chr5:96498921C>T	AK002021	CCDS4089.1, CCDS54884.1	5q14	2012-12-10	2012-12-10		ENSG00000058729	ENSG00000058729			18999	protein-coding gene	gene with protein product			"""RIO kinase 2 (yeast)"""				Standard	NM_018343		Approved	FLJ11159	uc003kmz.3	Q9BVS4	OTTHUMG00000128723	ENST00000283109.3:c.1503G>A	5.37:g.96498921C>T							p.V501V	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN		COAD - Colon adenocarcinoma(37;0.0657)	10	1613	-		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)	501			Protein kinase.		D6RDI3|Q9NUT0	Silent	SNP	ENST00000283109.3	37	c.1503G>A	CCDS4089.1	.	.	.	.	.	.	.	.	.	.	C	8.963	0.971000	0.18659	.	.	ENSG00000058729	ENST00000511293	.	.	.	5.7	0.632	0.17705	.	.	.	.	.	T	0.42720	0.1215	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21930	-1.0231	4	.	.	.	-16.4382	2.077	0.03627	0.1193:0.4256:0.1163:0.3388	.	.	.	.	K	108	.	.	E	-	1	0	RIOK2	96524677	0.591000	0.26824	0.997000	0.53966	0.984000	0.73092	-0.221000	0.09202	0.067000	0.16545	0.655000	0.94253	GAA		0.353	RIOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250628.1	NM_018343		4	41	0	0	0	0	4	41				
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726																																						uc003lcn.2		NA																	0				ovary(1)	1						c.(622-624)GCC>GCT		GDNF family receptor alpha 3 preproprotein							20.0	22.0	21.0					5																	137593489		2195	4286	6481	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593489G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.624C>T	5.37:g.137593489G>A						GFRA3_uc003lco.2_Silent_p.A177A	p.A208A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	764	-			208					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.624C>T	CCDS4201.1																																																																																				0.726	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		10	56	0	0	0	0	10	56				
PCDHB10	56126	broad.mit.edu	37	5	140569021	140569021	+	5'Flank	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140569021G>A	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTCGTGGCGGTGCGGCTGT	0.697																																						uc003liw.1		NA																	0					0						c.(2128-2130)GCG>GCA		protocadherin beta 9 precursor							40.0	51.0	47.0					5																	140569021		2147	4151	6298	SO:0001631	upstream_gene_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140569021G>A	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569021G>A	Exception_encountered					PCDHB10_uc003lix.2_5'Flank	p.A710A	NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		3	2130	+			710			Helical; (Potential).		Q96T99	Silent	SNP	ENST00000239446.4	37	c.2130G>A	CCDS4252.1																																																																																				0.697	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		26	234	0	0	0	0	26	234				
PCDHGA7	56108	broad.mit.edu	37	5	140764270	140764270	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:140764270G>T	ENST00000518325.1	+	1	1804	c.1804G>T	c.(1804-1806)Gcc>Tcc	p.A602S	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	602	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)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCCAGAACGCCTGGCTGTC	0.642																																						uc003lka.1		NA																	0					0						c.(1804-1806)GCC>TCC		protocadherin gamma subfamily A, 7 isoform 1							63.0	74.0	70.0					5																	140764270		2203	4300	6503	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764270G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1804G>T	5.37:g.140764270G>T	ENSP00000430024:p.Ala602Ser					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.A602S	p.A602S	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1804	+			602			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1804G>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	19.74	3.884672	0.72410	.	.	ENSG00000253537	ENST00000518325	T	0.59083	0.29	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.71204	0.3312	L	0.55213	1.73	0.42351	D	0.992377	D;D	0.57257	0.967;0.979	D;P	0.63703	0.917;0.865	T	0.73316	-0.4021	9	0.56958	D	0.05	.	18.3303	0.90267	0.0:0.0:1.0:0.0	.	602;602	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	S	602	ENSP00000430024:A602S	ENSP00000430024:A602S	A	+	1	0	PCDHGA7	140744454	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	5.500000	0.66943	2.484000	0.83849	0.655000	0.94253	GCC		0.642	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		11	118	1	0	1.58e-08	1.75e-08	11	118				
DPYSL3	1809	broad.mit.edu	37	5	146804509	146804509	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:146804509G>C	ENST00000398514.3	-	2	428	c.57C>G	c.(55-57)atC>atG	p.I19M	DPYSL3_ENST00000343218.5_Missense_Mutation_p.I133M|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	19					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)			breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCTCCCTTGATAAGGAGAC	0.368																																						uc003lon.1		NA																	0				ovary(1)	1						c.(55-57)ATC>ATG		dihydropyrimidinase-like 3							119.0	108.0	111.0					5																	146804509		1873	4117	5990	SO:0001583	missense	1809				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol|growth cone	dihydropyrimidinase activity	g.chr5:146804509G>C	D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.57C>G	5.37:g.146804509G>C	ENSP00000381526:p.Ile19Met					DPYSL3_uc003loo.2_Missense_Mutation_p.I133M	p.I19M	NM_001387	NP_001378	Q14195	DPYL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	167	-			19					B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	c.57C>G	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560948	0.65538	.	.	ENSG00000113657	ENST00000398514;ENST00000343218;ENST00000512722	D;D;D	0.92446	-2.96;-3.04;-3.0	5.24	4.12	0.48240	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	H	0.99325	4.515	0.80722	D	1	D;D	0.76494	0.987;0.999	P;P	0.61592	0.891;0.873	D	0.96246	0.9179	10	0.87932	D	0	-11.3945	6.8786	0.24160	0.2058:0.0:0.7942:0.0	.	133;19	B3SXQ8;Q14195	.;DPYL3_HUMAN	M	19;133;19	ENSP00000381526:I19M;ENSP00000343690:I133M;ENSP00000426720:I19M	ENSP00000343690:I133M	I	-	3	3	DPYSL3	146784702	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.140000	0.50585	2.602000	0.87976	0.563000	0.77884	ATC		0.368	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2	NM_001387		6	64	0	0	0	0	6	64				
HK3	3101	broad.mit.edu	37	5	176310832	176310832	+	Silent	SNP	C	C	T	rs554140413		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr5:176310832C>T	ENST00000292432.5	-	15	2083	c.1992G>A	c.(1990-1992)acG>acA	p.T664T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	664	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTCCCCACCGTGTCATTGA	0.582																																						uc003mfa.2		NA																	0				ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	7						c.(1990-1992)ACG>ACA		hexokinase 3							209.0	162.0	178.0					5																	176310832		2203	4300	6503	SO:0001819	synonymous_variant	3101				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	g.chr5:176310832C>T		CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1992G>A	5.37:g.176310832C>T						HK3_uc003mez.2_Silent_p.T220T	p.T664T	NM_002115	NP_002106	P52790	HXK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		15	2084	-	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	664			Catalytic.		Q8N1E7	Silent	SNP	ENST00000292432.5	37	c.1992G>A	CCDS4407.1																																																																																				0.582	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1			11	123	0	0	0	0	11	123				
HFE	3077	broad.mit.edu	37	6	26093372	26093372	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26093372C>T	ENST00000357618.5	+	5	1040	c.918C>T	c.(916-918)gtC>gtT	p.V306V	HFE_ENST00000317896.7_Silent_p.V214V|HFE_ENST00000488199.1_Silent_p.V204V|HFE_ENST00000461397.1_Silent_p.V292V|HFE_ENST00000470149.1_Silent_p.V303V|HFE_ENST00000397022.3_Silent_p.V283V|HFE_ENST00000349999.4_Silent_p.V218V|HFE_ENST00000309234.6_Silent_p.V306V|HFE_ENST00000353147.5_Silent_p.V126V|HFE_ENST00000352392.4_Silent_p.V34V|HFE_ENST00000336625.8_Silent_p.V200V	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	306	Connecting peptide.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular iron ion homeostasis (GO:0006879)|cellular response to iron ion starvation (GO:0010106)|female pregnancy (GO:0007565)|hormone biosynthetic process (GO:0042446)|immune response (GO:0006955)|iron ion import into cell (GO:0097459)|multicellular organismal iron ion homeostasis (GO:0060586)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein complex assembly (GO:0006461)	apical part of cell (GO:0045177)|basal part of cell (GO:0045178)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|integral component of plasma membrane (GO:0005887)|MHC class I protein complex (GO:0042612)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	peptide antigen binding (GO:0042605)|receptor binding (GO:0005102)			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCACCCTAGTCATTGGAGTCA	0.443									Hemochromatosis																													uc003nfx.1		NA																	0					0						c.(916-918)GTC>GTT		hemochromatosis protein isoform 1 precursor							186.0	165.0	172.0					6																	26093372		2203	4300	6503	SO:0001819	synonymous_variant	3077	Hemochromatosis	Familial Cancer Database		antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding	g.chr6:26093372C>T		CCDS4578.1, CCDS4579.1, CCDS4580.1, CCDS4581.1, CCDS4582.1, CCDS47386.1, CCDS47387.1, CCDS54974.1, CCDS54975.1, CCDS75412.1	6p21.3	2014-09-17			ENSG00000010704	ENSG00000010704		"""Immunoglobulin superfamily / C1-set domain containing"""	4886	protein-coding gene	gene with protein product	"""high Fe"""	613609				3460331	Standard	XR_241893		Approved	HLA-H	uc003nfx.1	Q30201	OTTHUMG00000016348	ENST00000357618.5:c.918C>T	6.37:g.26093372C>T						HFE_uc003nfy.1_Silent_p.V283V|HFE_uc010jqe.1_Silent_p.V303V|HFE_uc003nfz.1_Silent_p.V218V|HFE_uc003ngd.1_Silent_p.V204V|HFE_uc003nga.1_Silent_p.V292V|HFE_uc003ngb.1_Silent_p.V200V|HFE_uc003ngc.1_Silent_p.V214V|HFE_uc003nge.1_Silent_p.V126V|HFE_uc003ngf.1_Silent_p.V34V	p.V306V	NM_000410	NP_000401	Q30201	HFE_HUMAN			5	1078	+			306			Connecting peptide.|Extracellular (Potential).		B2CKL0|O75929|O75930|O75931|Q17RT0|Q96KU5|Q96KU6|Q96KU7|Q96KU8|Q9HC64|Q9HC68|Q9HC70|Q9HC83	Silent	SNP	ENST00000357618.5	37	c.918C>T	CCDS4578.1																																																																																				0.443	HFE-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356133.1			5	46	0	0	0	0	5	46				
HIST1H2BH	8345	broad.mit.edu	37	6	26252218	26252218	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:26252218G>C	ENST00000356350.2	+	1	340	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	HIST1H3F_ENST00000446824.2_5'Flank	NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	114					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.E114K(2)|p.E114Q(1)		NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGCCGTGTCCGAGGGCACTAA	0.537																																						uc003nhh.2		NA																	3	Substitution - Missense(3)		large_intestine(1)|NS(1)|lung(1)	ovary(3)	3						c.(340-342)GAG>CAG		histone cluster 1, H2bh							63.0	68.0	66.0					6																	26252218		2203	4300	6503	SO:0001583	missense	8345				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26252218G>C	Z80781	CCDS4601.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000197459	ENSG00000275713		"""Histones / Replication-dependent"""	4755	protein-coding gene	gene with protein product		602806	"""H2B histone family, member J"", ""histone 1, H2bh"""	H2BFJ		9119399, 12408966	Standard	NM_003524		Approved	H2B/j	uc003nhh.3	Q93079	OTTHUMG00000014447	ENST00000356350.2:c.340G>C	6.37:g.26252218G>C	ENSP00000348706:p.Glu114Gln					HIST1H3F_uc003nhg.1_5'Flank	p.E114Q	NM_003524	NP_003515	Q93079	H2B1H_HUMAN			1	340	+			114					B2R541|Q4VB74	Missense_Mutation	SNP	ENST00000356350.2	37	c.340G>C	CCDS4601.1	.	.	.	.	.	.	.	.	.	.	.	15.46	2.839131	0.51057	.	.	ENSG00000197459	ENST00000356350	T	0.48836	0.8	4.65	3.78	0.43462	Histone-fold (2);	0.000000	0.40222	U	0.001155	T	0.44685	0.1305	M	0.91090	3.175	0.32333	N	0.560866	B	0.31769	0.339	B	0.34931	0.192	T	0.56848	-0.7911	10	0.72032	D	0.01	.	12.6473	0.56742	0.0824:0.0:0.9176:0.0	.	114	Q93079	H2B1H_HUMAN	Q	114	ENSP00000348706:E114Q	ENSP00000348706:E114Q	E	+	1	0	HIST1H2BH	26360197	1.000000	0.71417	0.962000	0.40283	0.380000	0.30137	7.726000	0.84824	1.271000	0.44313	0.591000	0.81541	GAG		0.537	HIST1H2BH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040110.1	NM_003524		4	87	0	0	0	0	4	87				
SLC29A1	2030	broad.mit.edu	37	6	44201176	44201176	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:44201176G>C	ENST00000393841.1	+	14	1773	c.1282G>C	c.(1282-1284)Gag>Cag	p.E428Q	SLC29A1_ENST00000313248.7_Missense_Mutation_p.E507Q|SLC29A1_ENST00000371731.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000393844.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000427851.2_Missense_Mutation_p.E428Q	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	428					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	AGCTGAGGCAGAGACCGCAGG	0.587																																						uc003owu.1		NA																	0				large_intestine(2)|skin(1)	3						c.(1282-1284)GAG>CAG		equilibrative nucleoside transporter 1	Troglitazone(DB00197)						156.0	148.0	151.0					6																	44201176		2203	4300	6503	SO:0001583	missense	2030				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding	g.chr6:44201176G>C	U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.1282G>C	6.37:g.44201176G>C	ENSP00000377424:p.Glu428Gln					SLC29A1_uc003owv.1_Missense_Mutation_p.E428Q|SLC29A1_uc003oww.1_Missense_Mutation_p.E507Q|SLC29A1_uc003owx.1_Missense_Mutation_p.E428Q|SLC29A1_uc003owy.1_Missense_Mutation_p.E428Q|SLC29A1_uc003owz.1_Missense_Mutation_p.E428Q	p.E428Q	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		13	1611	+	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		428			Cytoplasmic (Potential).		B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Missense_Mutation	SNP	ENST00000393841.1	37	c.1282G>C	CCDS4908.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621226	0.87460	.	.	ENSG00000112759	ENST00000393844;ENST00000313248;ENST00000427851;ENST00000371755;ENST00000371740;ENST00000371731;ENST00000393841;ENST00000371724;ENST00000371713;ENST00000371708	T;T;T;T;T;T;T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41;-1.41	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.92555	3.32	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92801	0.6256	10	0.72032	D	0.01	-12.9636	19.2711	0.94010	0.0:0.0:1.0:0.0	.	507;428	B3KQV7;Q99808	.;S29A1_HUMAN	Q	428;507;428;428;428;428;428;428;428;428	ENSP00000377427:E428Q;ENSP00000319152:E507Q;ENSP00000392668:E428Q;ENSP00000360820:E428Q;ENSP00000360805:E428Q;ENSP00000360796:E428Q;ENSP00000377424:E428Q;ENSP00000360789:E428Q;ENSP00000360778:E428Q;ENSP00000360773:E428Q	ENSP00000319152:E507Q	E	+	1	0	SLC29A1	44309154	1.000000	0.71417	0.881000	0.34555	0.652000	0.38707	8.824000	0.92023	2.789000	0.95967	0.655000	0.94253	GAG		0.587	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040721.1			10	154	0	0	0	0	10	154				
RUNX2	860	broad.mit.edu	37	6	45480007	45480007	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:45480007C>T	ENST00000371438.1	+	6	1242	c.884C>T	c.(883-885)cCg>cTg	p.P295L	RUNX2_ENST00000541979.1_Missense_Mutation_p.P363L|RUNX2_ENST00000371436.6_Missense_Mutation_p.P295L|RUNX2_ENST00000465038.2_Missense_Mutation_p.P295L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P281L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P281L|RUNX2_ENST00000576263.1_Missense_Mutation_p.P295L|RUNX2_ENST00000352853.5_Missense_Mutation_p.P363L	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	295	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CAGTCTTCCCCGCCGTGGTCC	0.532																																						uc011dvx.1		NA																	0				ovary(2)|skin(1)	3	GRCh37	CD992745	RUNX2	D		c.(883-885)CCG>CTG		runt-related transcription factor 2 isoform a							97.0	87.0	90.0					6																	45480007		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480007C>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.884C>T	6.37:g.45480007C>T	ENSP00000360493:p.Pro295Leu					RUNX2_uc011dvy.1_Missense_Mutation_p.P295L|RUNX2_uc003oxt.2_Missense_Mutation_p.P281L	p.P295L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			7	1094	+			295			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.884C>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	C	33	5.224593	0.95139	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.81702	0.4878	M	0.79258	2.445	0.80722	D	1	D;B;D	0.69078	0.997;0.41;0.997	P;B;P	0.54431	0.752;0.083;0.752	T	0.82564	-0.0394	10	0.66056	D	0.02	-6.8972	20.6397	0.99537	0.0:1.0:0.0:0.0	.	363;295;281	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	L	295;363;363;295;295;281;281	ENSP00000420707:P295L;ENSP00000319087:P363L;ENSP00000446290:P363L;ENSP00000360493:P295L;ENSP00000360491:P295L;ENSP00000352514:P281L;ENSP00000360486:P281L	ENSP00000319087:P363L	P	+	2	0	RUNX2	45587985	1.000000	0.71417	0.997000	0.53966	0.933000	0.57130	7.447000	0.80620	2.880000	0.98712	0.650000	0.86243	CCG		0.532	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	95	0	0	0	0	8	95				
THEMIS	387357	broad.mit.edu	37	6	128134839	128134839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:128134839G>A	ENST00000368248.2	-	4	1095	c.947C>T	c.(946-948)tCa>tTa	p.S316L	THEMIS_ENST00000537166.1_Missense_Mutation_p.S281L|THEMIS_ENST00000368250.1_Missense_Mutation_p.S237L|THEMIS_ENST00000543064.1_Missense_Mutation_p.S316L	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	316	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TAAGATTCTTGATGCCTGGTA	0.438																																						uc003qbi.2		NA																	0				ovary(2)|skin(2)	4						c.(946-948)TCA>TTA		thymocyte selection pathway associated isoform							99.0	103.0	102.0					6																	128134839		2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134839G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.947C>T	6.37:g.128134839G>A	ENSP00000357231:p.Ser316Leu					THEMIS_uc010kfa.2_Missense_Mutation_p.S219L|THEMIS_uc011ebt.1_Missense_Mutation_p.S316L|THEMIS_uc010kfb.2_Missense_Mutation_p.S281L	p.S316L	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			5	1266	-			316			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.947C>T	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	11.91	1.779597	0.31502	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15139	2.45;2.45;2.45;2.45;2.45	5.59	5.59	0.84812	.	0.425258	0.22570	N	0.058353	T	0.08044	0.0201	L	0.57536	1.79	0.25858	N	0.983869	P;P	0.43352	0.804;0.521	B;B	0.37601	0.254;0.197	T	0.15492	-1.0435	10	0.33141	T	0.24	-5.1769	10.9906	0.47547	0.0:0.1392:0.7165:0.1443	.	316;316	F5H1J9;Q8N1K5	.;THMS1_HUMAN	L	237;316;316;281;84	ENSP00000357233:S237L;ENSP00000439594:S316L;ENSP00000357231:S316L;ENSP00000439863:S281L;ENSP00000387740:S84L	ENSP00000357231:S316L	S	-	2	0	THEMIS	128176532	0.013000	0.17824	0.972000	0.41901	0.875000	0.50365	1.254000	0.32897	2.643000	0.89663	0.455000	0.32223	TCA		0.438	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		4	115	0	0	0	0	4	115				
ENPP1	5167	broad.mit.edu	37	6	132201070	132201070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:132201070C>T	ENST00000360971.2	+	20	2016	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	666	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TAGAGTTCTCCAGAAGGAAAA	0.403																																					Colon(104;336 1535 5856 11019 33782)	uc011ecf.1		NA																	0				upper_aerodigestive_tract(2)|ovary(2)	4						c.(1996-1998)CAG>TAG		ectonucleotide pyrophosphatase/phosphodiesterase	Amifostine(DB01143)|Ribavirin(DB00811)						164.0	151.0	155.0					6																	132201070		2203	4300	6503	SO:0001587	stop_gained	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132201070C>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1996C>T	6.37:g.132201070C>T	ENSP00000354238:p.Gln666*						p.Q666*	NM_006208	NP_006199	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	20	2016	+	Breast(56;0.0505)		666			Nuclease.|Extracellular (Potential).		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Nonsense_Mutation	SNP	ENST00000360971.2	37	c.1996C>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	C	38	6.867442	0.97897	.	.	ENSG00000197594	ENST00000360971	.	.	.	5.69	4.82	0.62117	.	0.062092	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	0.0352	14.5818	0.68298	0.0:0.9288:0.0:0.0712	.	.	.	.	X	666	.	ENSP00000354238:Q666X	Q	+	1	0	ENPP1	132242763	0.965000	0.33210	0.200000	0.23457	0.885000	0.51271	2.255000	0.43222	1.410000	0.46936	0.563000	0.77884	CAG		0.403	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			9	80	0	0	0	0	9	80				
SYNE1	23345	broad.mit.edu	37	6	152772295	152772295	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:152772295C>G	ENST00000367255.5	-	26	3674	c.3073G>C	c.(3073-3075)Gat>Cat	p.D1025H	SYNE1_ENST00000448038.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1091H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D1015H|SYNE1_ENST00000413186.2_Missense_Mutation_p.D1025H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000367253.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1025H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1025					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCTCCACATCAATCTTCAGA	0.413										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(3073-3075)GAT>CAT		spectrin repeat containing, nuclear envelope 1							122.0	115.0	117.0					6																	152772295		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152772295C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3073G>C	6.37:g.152772295C>G	ENSP00000356224:p.Asp1025His	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.D1032H|SYNE1_uc003qou.3_Missense_Mutation_p.D1025H|SYNE1_uc010kjb.1_Missense_Mutation_p.D1008H|SYNE1_uc003qow.2_Missense_Mutation_p.D320H|SYNE1_uc003qox.1_Missense_Mutation_p.D541H	p.D1025H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	26	3675	-		Ovarian(120;0.0955)	1025			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.3073G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125585	0.77436	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;D;D;D	0.87809	0.68;0.68;0.59;0.68;0.79;-2.17;-2.3;-2.3	5.84	4.97	0.65823	.	0.730045	0.12899	N	0.429995	T	0.81148	0.4762	N	0.24115	0.695	0.80722	D	1	B;B;P;P;B;P	0.42123	0.198;0.232;0.654;0.771;0.232;0.654	B;B;P;P;B;P	0.50136	0.241;0.133;0.632;0.532;0.133;0.532	T	0.81441	-0.0931	10	0.46703	T	0.11	.	15.3275	0.74179	0.0:0.933:0.0:0.067	.	1008;1025;1015;1025;1025;1032	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	H	1025;1032;1025;1032;1091;1025;1015;1025	ENSP00000356224:D1025H;ENSP00000396024:D1032H;ENSP00000265368:D1025H;ENSP00000390975:D1032H;ENSP00000341887:D1091H;ENSP00000356222:D1025H;ENSP00000356217:D1015H;ENSP00000414510:D1025H	ENSP00000265368:D1025H	D	-	1	0	SYNE1	152813988	1.000000	0.71417	0.776000	0.31678	0.972000	0.66771	4.412000	0.59787	1.623000	0.50342	0.650000	0.86243	GAT		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	89	0	0	0	0	6	89				
ARID1B	57492	broad.mit.edu	37	6	157256619	157256619	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr6:157256619A>G	ENST00000350026.5	+	4	1908	c.1907A>G	c.(1906-1908)tAt>tGt	p.Y636C	ARID1B_ENST00000275248.4_Missense_Mutation_p.Y578C|ARID1B_ENST00000346085.5_Missense_Mutation_p.Y649C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y636C	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	636					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGGAAGGCTATGGAACTAGA	0.363																																						uc003qqn.2		NA																	0				ovary(1)|breast(1)	2						c.(1732-1734)TAT>TGT		AT rich interactive domain 1B (SWI1-like)							178.0	167.0	171.0					6																	157256619		2203	4300	6503	SO:0001583	missense	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157256619A>G	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1907A>G	6.37:g.157256619A>G	ENSP00000055163:p.Tyr636Cys					ARID1B_uc003qqo.2_Missense_Mutation_p.Y591C|ARID1B_uc003qqp.2_Missense_Mutation_p.Y578C|ARID1B_uc003qqq.1_Missense_Mutation_p.Y6C	p.Y578C	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	4	1885	+		Breast(66;0.000162)|Ovarian(120;0.0265)	636					Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	c.1733A>G	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808380	0.70797	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000354354;ENST00000535255;ENST00000414678;ENST00000319584	T;T;T;T;T;T	0.20598	4.71;4.73;4.74;4.74;4.43;2.06	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000015	T	0.27559	0.0677	L	0.34521	1.04	0.42889	D	0.994192	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.07366	-1.0776	10	0.87932	D	0	.	15.9855	0.80147	1.0:0.0:0.0:0.0	.	6;636;649;578	F5H333;Q8NFD5;Q8NFD5-2;G3XAA0	.;ARI1B_HUMAN;.;.	C	649;636;636;578;57;6;135;58	ENSP00000344546:Y649C;ENSP00000055163:Y636C;ENSP00000356116:Y636C;ENSP00000275248:Y578C;ENSP00000412835:Y135C;ENSP00000313006:Y58C	ENSP00000275248:Y578C	Y	+	2	0	ARID1B	157298311	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.141000	0.77330	2.179000	0.69175	0.528000	0.53228	TAT		0.363	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		13	92	0	0	0	0	13	92				
MEOX2	4223	broad.mit.edu	37	7	15725557	15725557	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:15725557C>T	ENST00000262041.5	-	1	880	c.471G>A	c.(469-471)gcG>gcA	p.A157A	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	157					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TCTCCGCCTCCGCAGGTGACA	0.711																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(469-471)GCG>GCA		mesenchyme homeobox 2							56.0	67.0	63.0					7																	15725557		2188	4267	6455	SO:0001819	synonymous_variant	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725557C>T		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.471G>A	7.37:g.15725557C>T						MEOX2_uc011jxw.1_Silent_p.A157A	p.A157A	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	752	-			157					B2R8I7|O75263|Q9UPL6	Silent	SNP	ENST00000262041.5	37	c.471G>A	CCDS34605.1																																																																																				0.711	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		15	200	0	0	0	0	15	200				
DDC	1644	broad.mit.edu	37	7	50534944	50534944	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:50534944C>T	ENST00000444124.2	-	13	1410	c.1210G>A	c.(1210-1212)Gtc>Atc	p.V404I	DDC_ENST00000431062.1_Missense_Mutation_p.V311I|DDC_ENST00000426377.1_Missense_Mutation_p.V326I|DDC_ENST00000357936.5_Missense_Mutation_p.V404I	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	404					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCAGAATGACTTCCACACAG	0.448																																						uc003tpf.3		NA																	0				ovary(2)	2						c.(1210-1212)GTC>ATC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						161.0	160.0	161.0					7																	50534944		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50534944C>T		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.1210G>A	7.37:g.50534944C>T	ENSP00000403644:p.Val404Ile					DDC_uc010kza.2_Missense_Mutation_p.V319I|DDC_uc003tpg.3_Missense_Mutation_p.V404I	p.V404I	NM_000790	NP_000781	P20711	DDC_HUMAN			13	1296	-	Glioma(55;0.08)|all_neural(89;0.245)		404					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.1210G>A	CCDS5511.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.306766	0.60305	.	.	ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124	T;T;T;T	0.39406	1.08;1.08;1.08;1.08	5.08	5.08	0.68730	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.059467	0.64402	D	0.000002	T	0.71031	0.3292	M	0.90082	3.085	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.71184	0.972;0.972	T	0.75425	-0.3322	10	0.44086	T	0.13	-53.738	18.8647	0.92287	0.0:1.0:0.0:0.0	.	404;404	Q53Y41;P20711	.;DDC_HUMAN	I	404;311;326;404	ENSP00000350616:V404I;ENSP00000399184:V311I;ENSP00000395069:V326I;ENSP00000403644:V404I	ENSP00000350616:V404I	V	-	1	0	DDC	50502438	1.000000	0.71417	0.285000	0.24819	0.074000	0.17049	7.332000	0.79203	2.507000	0.84556	0.655000	0.94253	GTC		0.448	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			20	128	0	0	0	0	20	128				
ZNF107	51427	broad.mit.edu	37	7	64168431	64168431	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:64168431A>G	ENST00000395391.1	+	4	3124	c.1749A>G	c.(1747-1749)gaA>gaG	p.E583E	ZNF107_ENST00000344930.3_Silent_p.E583E|ZNF107_ENST00000423627.1_Silent_p.E583E			Q9UII5	ZN107_HUMAN	zinc finger protein 107	583					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATTTGAAGAACATGGAA	0.338																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(1747-1749)GAA>GAG		zinc finger protein 107							45.0	53.0	50.0					7																	64168431		2199	4294	6493	SO:0001819	synonymous_variant	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64168431A>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1749A>G	7.37:g.64168431A>G						ZNF107_uc003tte.2_Silent_p.E583E	p.E583E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2535	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	583			C2H2-type 19; atypical.			Silent	SNP	ENST00000395391.1	37	c.1749A>G	CCDS5527.1																																																																																				0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		3	77	0	0	0	0	3	77				
AP4M1	9179	broad.mit.edu	37	7	99701070	99701070	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:99701070G>A	ENST00000359593.4	+	5	548	c.390G>A	c.(388-390)ctG>ctA	p.L130L	MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000422582.1_Silent_p.L2L|AP4M1_ENST00000421755.1_Silent_p.L130L|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Silent_p.L137L	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	130					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGAGATGCTGAGGAATTTCA	0.537																																					Pancreas(174;1182 2812 29595 49511)	uc003utb.3		NA																	0					0						c.(388-390)CTG>CTA		adaptor-related protein complex 4, mu 1 subunit							119.0	109.0	113.0					7																	99701070		2203	4300	6503	SO:0001819	synonymous_variant	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99701070G>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.390G>A	7.37:g.99701070G>A						MCM7_uc003usv.1_5'Flank|MCM7_uc003usw.1_5'Flank|MCM7_uc003usx.1_5'Flank|AP4M1_uc011kjg.1_Intron|AP4M1_uc010lgl.1_Silent_p.L130L|AP4M1_uc003utc.3_Silent_p.L137L|AP4M1_uc010lgm.2_Silent_p.L2L|AP4M1_uc003utd.2_Silent_p.L130L|AP4M1_uc011kjh.1_Silent_p.L82L|AP4M1_uc003ute.3_5'UTR|AP4M1_uc003utf.3_Silent_p.L2L	p.L130L	NM_004722	NP_004713	O00189	AP4M1_HUMAN			5	598	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		130					D6W5U1|Q8WV65|Q9UHK9	Silent	SNP	ENST00000359593.4	37	c.390G>A	CCDS5685.1																																																																																				0.537	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		8	70	0	0	0	0	8	70				
FAM71F1	84691	broad.mit.edu	37	7	128356921	128356921	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:128356921C>T	ENST00000315184.5	+	2	357	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.P23L	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	102										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CACCATGGCCCTGGGGGTGAC	0.577																																						uc003vno.1		NA																	0				skin(1)	1						c.(304-306)CTG>TTG		testes development-related NYD-SP18							110.0	95.0	100.0					7																	128356921		2203	4300	6503	SO:0001819	synonymous_variant	84691							g.chr7:128356921C>T	AF367470	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248			30704	protein-coding gene	gene with protein product			"""family with sequence similarity 137, member A"""	FAM137A		12477932	Standard	XM_005250645		Approved	NYD-SP18	uc003vno.1	Q96KD3	OTTHUMG00000158276	ENST00000315184.5:c.304C>T	7.37:g.128356921C>T						FAM71F1_uc010llo.1_Silent_p.L3L|FAM71F1_uc011koq.1_Missense_Mutation_p.P26L|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.P23L|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.L102L	p.L102L	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN			2	357	+			102					Q8IY75|Q8NA48	Silent	SNP	ENST00000315184.5	37	c.304C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619167	0.46736	.	.	ENSG00000135248	ENST00000485070	T	0.27256	1.68	5.54	3.73	0.42828	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.80722	D	1	B;B	0.17038	0.02;0.011	B;B	0.17433	0.018;0.006	T	0.07770	-1.0755	7	.	.	.	-6.7628	7.6283	0.28224	0.0:0.7464:0.1656:0.088	.	26;23	B4DY15;Q8NA48	.;.	L	23	ENSP00000418192:P23L	.	P	+	2	0	FAM71F1	128144157	1.000000	0.71417	0.983000	0.44433	0.063000	0.16089	1.111000	0.31159	0.696000	0.31696	0.591000	0.81541	CCT		0.577	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2	NM_032599		6	32	0	0	0	0	6	32				
PLXNA4	91584	broad.mit.edu	37	7	131913119	131913119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:131913119G>A	ENST00000359827.3	-	6	2676	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Q572*			Q9HCM2	PLXA4_HUMAN	plexin A4	572					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGTTGTACTGAGAGACGGAG	0.592																																						uc003vra.3		NA																	0				ovary(1)	1						c.(1714-1716)CAG>TAG		plexin A4 isoform 1							70.0	73.0	72.0					7																	131913119		1979	4156	6135	SO:0001587	stop_gained	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131913119G>A	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.1714C>T	7.37:g.131913119G>A	ENSP00000352882:p.Gln572*						p.Q572*	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			6	1943	-			572			Extracellular (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	c.1714C>T	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	42	9.508937	0.99190	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	.	.	.	X	572	.	ENSP00000323194:Q572X	Q	-	1	0	PLXNA4	131563659	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.599000	0.54045	2.793000	0.96121	0.655000	0.94253	CAG		0.592	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		5	40	0	0	0	0	5	40				
ATP6V0A4	50617	broad.mit.edu	37	7	138455987	138455987	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:138455987C>T	ENST00000310018.2	-	3	288	c.6G>A	c.(4-6)gtG>gtA	p.V2V	ATP6V0A4_ENST00000353492.4_Silent_p.V2V|ATP6V0A4_ENST00000393054.1_Silent_p.V2V|ATP6V0A4_ENST00000483139.1_5'UTR	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	2			V -> A (in dbSNP:rs10258719). {ECO:0000269|PubMed:10973252, ECO:0000269|PubMed:14702039}.		ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAACACAGACACCATCTTGG	0.423																																						uc003vuf.2		NA																	0				pancreas(1)	1						c.(4-6)GTG>GTA		ATPase, H+ transporting, lysosomal V0 subunit							134.0	131.0	132.0					7																	138455987		2203	4300	6503	SO:0001819	synonymous_variant	50617				cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity	g.chr7:138455987C>T	AF245517	CCDS5849.1	7q34	2011-06-09	2006-01-20	2002-05-10	ENSG00000105929	ENSG00000105929		"""ATPases / V-type"""	866	protein-coding gene	gene with protein product		605239	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 4"", ""ATPase, H+ transporting, lysosomal V0 subunit A4"""	ATP6N1B, ATP6N2, RTA1C		10577919, 10973252	Standard	XM_005250393		Approved	RDRTA2, VPP2, RTADR, a4, Vph1, Stv1	uc003vuf.3	Q9HBG4	OTTHUMG00000157122	ENST00000310018.2:c.6G>A	7.37:g.138455987C>T						ATP6V0A4_uc003vug.2_Silent_p.V2V|ATP6V0A4_uc003vuh.2_Silent_p.V2V	p.V2V	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN			2	244	-			2			Cytoplasmic (Potential).		A4D1R4|A8KA80|Q32M47	Silent	SNP	ENST00000310018.2	37	c.6G>A	CCDS5849.1																																																																																				0.423	ATP6V0A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347514.1	NM_020632		13	154	0	0	0	0	13	154				
CUL1	8454	broad.mit.edu	37	7	148487477	148487477	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr7:148487477C>T	ENST00000325222.4	+	16	2029	c.1750C>T	c.(1750-1752)Cag>Tag	p.Q584*	CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q584*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q584*	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	584					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GTGGTTATATCAGTTGTCTAA	0.358																																						uc010lpg.2		NA																	0				lung(1)	1						c.(1750-1752)CAG>TAG		cullin 1							93.0	89.0	90.0					7																	148487477		2203	4300	6503	SO:0001587	stop_gained	8454				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	g.chr7:148487477C>T	U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1750C>T	7.37:g.148487477C>T	ENSP00000326804:p.Gln584*					CUL1_uc003wey.2_Nonsense_Mutation_p.Q584*|CUL1_uc003wez.2_Nonsense_Mutation_p.Q474*|CUL1_uc003wfa.2_Nonsense_Mutation_p.Q245*	p.Q584*	NM_003592	NP_003583	Q13616	CUL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)		16	2276	+	Melanoma(164;0.15)		584					D3DWG3|O60719|Q08AL6|Q8IYW1	Nonsense_Mutation	SNP	ENST00000325222.4	37	c.1750C>T	CCDS34772.1	.	.	.	.	.	.	.	.	.	.	C	42	9.508751	0.99190	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	.	.	.	5.07	5.07	0.68467	.	0.053225	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.8698	18.4658	0.90753	0.0:1.0:0.0:0.0	.	.	.	.	X	584;584;542;511	.	ENSP00000326804:Q584X	Q	+	1	0	CUL1	148118410	1.000000	0.71417	0.982000	0.44146	0.981000	0.71138	7.563000	0.82314	2.359000	0.80004	0.655000	0.94253	CAG		0.358	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467785.1	NM_003592		5	59	0	0	0	0	5	59				
KIAA1456	57604	broad.mit.edu	37	8	12878806	12878806	+	Silent	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:12878806G>A	ENST00000524591.2	+	5	1107	c.618G>A	c.(616-618)caG>caA	p.Q206Q	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	206							methyltransferase activity (GO:0008168)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						TTAAAGAGCAGTGTGGTTCAA	0.478																																						uc010lsq.2		NA																	0					0						c.(616-618)CAG>CAA		hypothetical protein LOC57604 isoform 1							127.0	114.0	118.0					8																	12878806		1907	4137	6044	SO:0001819	synonymous_variant	57604						methyltransferase activity	g.chr8:12878806G>A	BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.618G>A	8.37:g.12878806G>A						C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.Q119Q|C8orf79_uc010lsr.2_Silent_p.Q80Q	p.Q206Q	NM_020844	NP_065895	Q9P272	K1456_HUMAN			5	1110	+			206					Q96AW6	Silent	SNP	ENST00000524591.2	37	c.618G>A	CCDS47808.1																																																																																				0.478	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2	NM_001099677		12	106	0	0	0	0	12	106				
EXTL3	2137	broad.mit.edu	37	8	28573933	28573933	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:28573933G>C	ENST00000220562.4	+	3	1259	c.357G>C	c.(355-357)aaG>aaC	p.K119N	EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	119					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|positive regulation of cell growth (GO:0030307)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CCTGTAAGAAGAGCATTGAGA	0.562																																						uc003xgz.1		NA																	0				skin(2)	2						c.(355-357)AAG>AAC		exostoses-like 3							45.0	40.0	42.0					8																	28573933		2203	4300	6503	SO:0001583	missense	2137					integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	g.chr8:28573933G>C	U76188	CCDS6070.1	8p22-p12	2013-03-01	2013-03-01		ENSG00000012232	ENSG00000012232	2.4.1.223	"""Exostosin glycosyltransferase family"""	3518	protein-coding gene	gene with protein product	"""REG receptor"", ""glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase"""	605744	"""exostoses (multiple)-like 3"""			9479495, 9450183, 11257457	Standard	NM_001440		Approved	botv, REGR	uc003xgz.2	O43909	OTTHUMG00000102146	ENST00000220562.4:c.357G>C	8.37:g.28573933G>C	ENSP00000220562:p.Lys119Asn						p.K119N	NM_001440	NP_001431	O43909	EXTL3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)	3	950	+		Ovarian(32;0.069)	119			Lumenal (Potential).		D3DST8|O00225|Q53XT3	Missense_Mutation	SNP	ENST00000220562.4	37	c.357G>C	CCDS6070.1	.	.	.	.	.	.	.	.	.	.	G	9.598	1.127961	0.20959	.	.	ENSG00000012232	ENST00000220562	D	0.95377	-3.69	5.05	4.18	0.49190	.	0.052243	0.64402	D	0.000001	D	0.87426	0.6174	N	0.11427	0.14	0.39434	D	0.967121	B	0.13145	0.007	B	0.08055	0.003	T	0.81258	-0.1014	9	.	.	.	-28.4976	9.57	0.39422	0.1591:0.0:0.8409:0.0	.	119	O43909	EXTL3_HUMAN	N	119	ENSP00000220562:K119N	.	K	+	3	2	EXTL3	28629852	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.060000	0.41394	1.133000	0.42147	0.491000	0.48974	AAG		0.562	EXTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219987.3	NM_001440		8	24	0	0	0	0	8	24				
RP1	6101	broad.mit.edu	37	8	55542326	55542326	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:55542326A>G	ENST00000220676.1	+	4	6032	c.5884A>G	c.(5884-5886)Aca>Gca	p.T1962A		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1962					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TTTACTTCAGACAGACAAAAA	0.318																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(5884-5886)ACA>GCA		retinitis pigmentosa RP1 protein							52.0	56.0	54.0					8																	55542326		2198	4296	6494	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55542326A>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5884A>G	8.37:g.55542326A>G	ENSP00000220676:p.Thr1962Ala					RP1_uc011ldy.1_Intron	p.T1962A	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	6032	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1962						Missense_Mutation	SNP	ENST00000220676.1	37	c.5884A>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	A	4.606	0.112620	0.08831	.	.	ENSG00000104237	ENST00000220676	T	0.20881	2.04	5.91	3.56	0.40772	.	0.343970	0.21236	N	0.077897	T	0.09642	0.0237	N	0.08118	0	0.20074	N	0.999935	B	0.16802	0.019	B	0.11329	0.006	T	0.17592	-1.0364	10	0.66056	D	0.02	.	4.6328	0.12509	0.153:0.141:0.0:0.7061	.	1962	P56715	RP1_HUMAN	A	1962	ENSP00000220676:T1962A	ENSP00000220676:T1962A	T	+	1	0	RP1	55704879	0.033000	0.19621	0.162000	0.22713	0.129000	0.20672	0.251000	0.18257	1.048000	0.40298	-0.339000	0.08088	ACA		0.318	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	44	0	0	0	0	5	44				
CSMD3	114788	broad.mit.edu	37	8	113662457	113662457	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:113662457C>G	ENST00000297405.5	-	19	3370	c.3126G>C	c.(3124-3126)ttG>ttC	p.L1042F	CSMD3_ENST00000352409.3_Missense_Mutation_p.L1042F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L938F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1002F	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1042	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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						CTTCATGACTCAACCTGTATC	0.438										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.(3124-3126)TTG>TTC		CUB and Sushi multiple domains 3 isoform 1							130.0	128.0	129.0					8																	113662457		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113662457C>G	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.3126G>C	8.37:g.113662457C>G	ENSP00000297405:p.Leu1042Phe	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.L314F|CSMD3_uc003ynt.2_Missense_Mutation_p.L1002F|CSMD3_uc011lhx.1_Missense_Mutation_p.L938F	p.L1042F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			19	3285	-			1042			Extracellular (Potential).|Sushi 5.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3126G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598882	0.66332	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51	5.74	-1.29	0.09288	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000025	D	0.84261	0.5433	H	0.96239	3.79	0.28069	N	0.932649	D;D;D	0.89917	1.0;1.0;0.995	D;D;D	0.91635	0.999;0.999;0.98	T	0.74247	-0.3727	10	0.87932	D	0	.	3.6377	0.08155	0.1025:0.3903:0.1014:0.4058	.	938;1042;1002	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	F	1002;1042;382;938;1042	ENSP00000345799:L1002F;ENSP00000297405:L1042F;ENSP00000341558:L382F;ENSP00000412263:L938F;ENSP00000343124:L1042F	ENSP00000297405:L1042F	L	-	3	2	CSMD3	113731633	0.017000	0.18338	0.977000	0.42913	0.991000	0.79684	-1.132000	0.03235	-0.131000	0.11578	0.561000	0.74099	TTG		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		3	108	0	0	0	0	3	108				
ZNF251	90987	broad.mit.edu	37	8	145947129	145947129	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr8:145947129G>A	ENST00000292562.7	-	5	2191	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	639					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)			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CTGCTGAGGTGGTGTGAGCTG	0.403																																						uc003zdv.3		NA																	0					0						c.(1915-1917)CCA>CTA		zinc finger protein 251							98.0	96.0	97.0					8																	145947129		2105	4255	6360	SO:0001583	missense	90987				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:145947129G>A	AK000435	CCDS47944.1	8q24.3	2013-01-08			ENSG00000198169	ENSG00000198169		"""Zinc fingers, C2H2-type"", ""-"""	13045	protein-coding gene	gene with protein product							Standard	NM_138367		Approved		uc003zdv.4	Q9BRH9	OTTHUMG00000165189	ENST00000292562.7:c.1916C>T	8.37:g.145947129G>A	ENSP00000292562:p.Pro639Leu						p.P639L	NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)	5	2172	-	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		639			C2H2-type 14; degenerate.		Q2M219	Missense_Mutation	SNP	ENST00000292562.7	37	c.1916C>T	CCDS47944.1	.	.	.	.	.	.	.	.	.	.	G	0.130	-1.114605	0.01799	.	.	ENSG00000198169	ENST00000292562	T	0.08807	3.05	0.954	-1.91	0.07641	Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02047	0.0064	N	0.00885	-1.115	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	9	0.27785	T	0.31	.	3.5693	0.07912	0.2793:0.0:0.5314:0.1893	.	639	Q9BRH9	ZN251_HUMAN	L	639	ENSP00000292562:P639L	ENSP00000292562:P639L	P	-	2	0	ZNF251	145917938	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-9.493000	0.00011	-1.310000	0.02312	-1.138000	0.01928	CCA		0.403	ZNF251-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382541.1	NM_138367		8	51	0	0	0	0	8	51				
CDKN2A	1029	broad.mit.edu	37	9	21971028	21971028	+	Nonsense_Mutation	SNP	C	C	T	rs121913389		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:21971028C>T	ENST00000304494.5	-	2	600	c.330G>A	c.(328-330)tgG>tgA	p.W110*	CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCAGACGGCCCCAGGCATCGC	0.736		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1401	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(33)|Deletion - Frameshift(5)|Substitution - Missense(3)	p.0?(1112)|p.W110*(38)|p.?(13)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110fs*36(1)|p.W110C(1)	haematopoietic_and_lymphoid_tissue(285)|skin(182)|central_nervous_system(168)|lung(150)|urinary_tract(92)|bone(74)|upper_aerodigestive_tract(64)|soft_tissue(57)|oesophagus(53)|pleura(51)|ovary(36)|pancreas(33)|kidney(32)|breast(32)|thyroid(13)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(9)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM060208	CDKN2A	M	rs121913389	c.(328-330)TGG>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							18.0	21.0	20.0					9																	21971028		2198	4295	6493	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971028C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.330G>A	9.37:g.21971028C>T	ENSP00000307101:p.Trp110*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.G166R	p.W110*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	542	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	110			ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.330G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	38|38	6.852087|6.852087	0.97885|0.97885	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.87412|.	-2.25;-2.15|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	0.000000|.	0.38217|.	N|.	0.001771|.	T|.	0.37839|.	0.1018|.	L|L	0.32530|0.32530	0.975|0.975	0.30154|0.30154	N|N	0.80279|0.80279	D|.	0.58620|.	0.983|.	P|.	0.60117|.	0.869|.	T|.	0.38887|.	-0.9640|.	10|.	0.87932|0.42905	D|T	0|0.14	-14.7138|-14.7138	8.0617|8.0617	0.30638|0.30638	0.1597:0.7616:0.0:0.0788|0.1597:0.7616:0.0:0.0788	.|.	166|.	Q8N726|.	CD2A2_HUMAN|.	R|X	166;125|110	ENSP00000355153:G166R;ENSP00000432664:G125R|.	ENSP00000355153:G166R|ENSP00000307101:W110X	G|W	-|-	1|3	0|0	CDKN2A|CDKN2A	21961028|21961028	0.088000|0.088000	0.21588|0.21588	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	0.422000|0.422000	0.21296|0.21296	2.808000|2.808000	0.96608|0.96608	0.655000|0.655000	0.94253|0.94253	GGG|TGG		0.736	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		4	33	0	0	0	0	4	33				
GALT	2592	broad.mit.edu	37	9	34647693	34647693	+	Missense_Mutation	SNP	G	G	C	rs111033675		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:34647693G>C	ENST00000378842.3	+	4	410	c.368G>C	c.(367-369)cGa>cCa	p.R123P	GALT_ENST00000450095.2_Intron|GALT_ENST00000556278.1_Intron	NM_000155.3	NP_000146.2	P07902	GALT_HUMAN	galactose-1-phosphate uridylyltransferase	123			R -> G (in GALCT). {ECO:0000269|PubMed:9222760}.|R -> Q (in GALCT).		carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|galactose metabolic process (GO:0006012)|small molecule metabolic process (GO:0044281)|UDP-glucose catabolic process (GO:0006258)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	UDP-glucose:hexose-1-phosphate uridylyltransferase activity (GO:0008108)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		AAGTCTGCTCGAGGAGTCTGG	0.532									Galactosemia																													uc003zve.2		NA																	0					0	GRCh37	CM990635	GALT	M	rs111033675	c.(367-369)CGA>CCA		galactose-1-phosphate uridylyltransferase							98.0	92.0	94.0					9																	34647693		2203	4300	6503	SO:0001583	missense	2592	Galactosemia	Familial Cancer Database	Galactose-1-Phosphate Uridyltransferase Deficiency	galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding	g.chr9:34647693G>C	M60091	CCDS6565.1, CCDS59122.1	9p13	2013-01-08			ENSG00000213930	ENSG00000213930	2.7.7.12		4135	protein-coding gene	gene with protein product		606999					Standard	NM_000155		Approved		uc003zve.4	P07902	OTTHUMG00000019836	ENST00000378842.3:c.368G>C	9.37:g.34647693G>C	ENSP00000368119:p.Arg123Pro					GALT_uc003zvf.2_Intron|GALT_uc003zvg.2_5'UTR|GALT_uc003zvh.2_Missense_Mutation_p.R75P|GALT_uc011lop.1_Missense_Mutation_p.R75P	p.R123P	NM_000155	NP_000146	P07902	GALT_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)	4	435	+	all_epithelial(49;0.102)		123		R -> G (in GALCT).|R -> Q (in GALCT).			B4E097|E7ET32|Q14355|Q14356|Q14357|Q14358|Q14359|Q14360|Q14361|Q14363|Q14364|Q14365|Q14369|Q14370|Q14371|Q14372|Q14373|Q14374|Q14375|Q14377|Q14378|Q14380|Q14381|Q14382|Q14383|Q14384|Q14385|Q14386|Q14387|Q14389|Q16766|Q53XK1|Q5VZ81|Q96BY1	Missense_Mutation	SNP	ENST00000378842.3	37	c.368G>C	CCDS6565.1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.607824	0.46527	.	.	ENSG00000213930	ENST00000378842	D	0.99422	-5.88	5.45	4.55	0.56014	Histidine triad motif (1);Histidine triad-like motif (1);Galactose-1-phosphate uridyl transferase, N-terminal (1);	0.163888	0.34046	U	0.004312	D	0.99408	0.9791	M	0.86864	2.845	0.80722	D	1	P;D	0.54964	0.899;0.969	D;P	0.67231	0.95;0.807	D	0.99581	1.0973	10	0.87932	D	0	-2.1332	8.3297	0.32178	0.0801:0.0:0.7666:0.1533	.	75;123	B4DT62;P07902	.;GALT_HUMAN	P	123	ENSP00000368119:R123P	ENSP00000368119:R123P	R	+	2	0	GALT	34637693	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.364000	0.52328	1.326000	0.45319	0.655000	0.94253	CGA		0.532	GALT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052231.1	NM_000155		5	48	0	0	0	0	5	48				
CEP78	84131	broad.mit.edu	37	9	80858414	80858414	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:80858414G>A	ENST00000424347.2	+	5	929	c.640G>A	c.(640-642)Gag>Aag	p.E214K	CEP78_ENST00000415759.2_Missense_Mutation_p.E214K|CEP78_ENST00000277082.5_Missense_Mutation_p.E214K|CEP78_ENST00000376597.4_Missense_Mutation_p.E214K|CEP78_ENST00000376598.2_Missense_Mutation_p.E214K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	214					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AACCTGGGCTGAGAGTCTTCG	0.403																																						uc004akx.2		NA																	0				ovary(1)	1						c.(640-642)GAG>AAG		centrosomal protein 78kDa isoform b							154.0	142.0	146.0					9																	80858414		1913	4113	6026	SO:0001583	missense	84131				G2/M transition of mitotic cell cycle	centrosome|cytosol		g.chr9:80858414G>A	BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.640G>A	9.37:g.80858414G>A	ENSP00000411284:p.Glu214Lys					CEP78_uc004aky.3_Missense_Mutation_p.E214K|CEP78_uc010mpp.2_Missense_Mutation_p.E214K|CEP78_uc011lsp.1_Missense_Mutation_p.E127K	p.E214K	NM_032171	NP_115547	Q5JTW2	CEP78_HUMAN			5	916	+			214					A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	ENST00000424347.2	37	c.640G>A		.	.	.	.	.	.	.	.	.	.	G	28.6	4.935576	0.92458	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.28895	1.61;1.78;1.61;1.59;1.59	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	L	0.31752	0.955	0.53688	D	0.999972	D;D;D;D	0.76494	0.983;0.996;0.999;0.992	P;P;D;P	0.66196	0.787;0.877;0.942;0.835	T	0.35525	-0.9785	10	0.62326	D	0.03	-21.3517	18.8361	0.92164	0.0:0.0:1.0:0.0	.	127;214;214;214	B7Z8H9;E9PHX5;Q5JTW2-2;Q5JTW2	.;.;.;CEP78_HUMAN	K	214	ENSP00000411284:E214K;ENSP00000399286:E214K;ENSP00000365782:E214K;ENSP00000277082:E214K;ENSP00000365783:E214K	ENSP00000277082:E214K	E	+	1	0	CEP78	80048234	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.686000	0.91250	2.681000	0.91329	0.655000	0.94253	GAG		0.403	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000052766.2	XM_095991		7	49	0	0	0	0	7	49				
IARS	3376	broad.mit.edu	37	9	95013063	95013063	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95013063C>T	ENST00000375643.3	-	23	2627	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L	IARS_ENST00000447699.2_Silent_p.L677L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Silent_p.L787L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	787					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CAGGGTCAATCAGCACCTTTA	0.453																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(2359-2361)CTG>CTA		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						146.0	111.0	123.0					9																	95013063		2203	4300	6503	SO:0001819	synonymous_variant	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95013063C>T	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.2361G>A	9.37:g.95013063C>T						IARS_uc004ars.1_Silent_p.L632L|IARS_uc004aru.3_Silent_p.L787L|IARS_uc010mqr.2_Silent_p.L677L|IARS_uc010mqt.2_Intron	p.L787L	NM_013417	NP_038203	P41252	SYIC_HUMAN			23	2618	-			787					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Silent	SNP	ENST00000375643.3	37	c.2361G>A	CCDS6694.1																																																																																				0.453	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		5	23	0	0	0	0	5	23				
ASPN	54829	broad.mit.edu	37	9	95219641	95219641	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:95219641C>G	ENST00000375544.3	-	8	1315	c.1072G>C	c.(1072-1074)Gaa>Caa	p.E358Q	ASPN_ENST00000375543.1_3'UTR|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	358					bone mineralization (GO:0030282)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTTGCATTTCCCAGTATTTC	0.373																																						uc004ase.1		NA																	0					0						c.(1072-1074)GAA>CAA		asporin precursor							122.0	117.0	118.0					9																	95219641		2203	4300	6503	SO:0001583	missense	54829				bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding	g.chr9:95219641C>G	AF316824		9q22.31	2008-05-14	2007-02-15		ENSG00000106819	ENSG00000106819		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	14872	protein-coding gene	gene with protein product	"""asporin proteoglycan"""	608135	"""asporin (LRR class 1)"""				Standard	NM_017680		Approved	FLJ20129, SLRR1C, PLAP1	uc004ase.2	Q9BXN1	OTTHUMG00000020227	ENST00000375544.3:c.1072G>C	9.37:g.95219641C>G	ENSP00000364694:p.Glu358Gln					CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ASPN_uc010mqy.1_3'UTR	p.E358Q	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN			8	1316	-			358			LRR 11.		Q5TBF3|Q96K79|Q96LD0|Q9NXP3	Missense_Mutation	SNP	ENST00000375544.3	37	c.1072G>C		.	.	.	.	.	.	.	.	.	.	C	21.0	4.086927	0.76642	.	.	ENSG00000106819	ENST00000375544	T	0.04454	3.62	5.18	4.26	0.50523	.	0.308175	0.35349	N	0.003278	T	0.09862	0.0242	M	0.67700	2.07	0.80722	D	1	P	0.42357	0.777	B	0.42214	0.38	T	0.03840	-1.0999	10	0.59425	D	0.04	.	15.2941	0.73891	0.1414:0.8586:0.0:0.0	.	358	Q9BXN1	ASPN_HUMAN	Q	358	ENSP00000364694:E358Q	ENSP00000364694:E358Q	E	-	1	0	ASPN	94259462	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.575000	0.53870	1.292000	0.44672	0.549000	0.68633	GAA		0.373	ASPN-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000053094.1	NM_017680		6	46	0	0	0	0	6	46				
PTCH1	5727	broad.mit.edu	37	9	98268846	98268846	+	Silent	SNP	C	C	G	rs547602299	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:98268846C>G	ENST00000331920.6	-	2	536	c.237G>C	c.(235-237)ctG>ctC	p.L79L	PTCH1_ENST00000437951.1_Silent_p.L13L|PTCH1_ENST00000375274.2_Silent_p.L78L|PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000430669.2_Silent_p.L13L|PTCH1_ENST00000468211.2_Silent_p.L13L|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000421141.1_5'UTR|PTCH1_ENST00000429896.2_5'UTR	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	79					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				ACTTCGCTCTCAGCCACAGCG	0.592																																						uc004avk.3		NA																	0				skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1)	379						c.(235-237)CTG>CTC		patched isoform L							40.0	43.0	42.0					9																	98268846		2203	4300	6503	SO:0001819	synonymous_variant	5727	Basal_Cell_Nevus_syndrome			embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98268846C>G	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.237G>C	9.37:g.98268846C>G						PTCH1_uc010mro.2_5'UTR|PTCH1_uc010mrp.2_5'UTR|PTCH1_uc010mrq.2_5'UTR|PTCH1_uc004avl.3_5'UTR|PTCH1_uc010mrr.2_Silent_p.L13L|PTCH1_uc004avm.3_Silent_p.L78L|PTCH1_uc010mrt.1_RNA|PTCH1_uc010mru.1_RNA|PTCH1_uc004avo.2_Silent_p.L13L|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	p.L79L	NM_000264	NP_000255	Q13635	PTC1_HUMAN			2	425	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	79			Cytoplasmic (Potential).		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	c.237G>C	CCDS6714.1																																																																																				0.592	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		4	40	0	0	0	0	4	40				
OR1J2	26740	broad.mit.edu	37	9	125273592	125273592	+	Missense_Mutation	SNP	C	C	T	rs200185396		TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:125273592C>T	ENST00000335302.5	+	1	512	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTCTGTGCTGCGAACACCATC	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20681	0.0		0.0	False		,,,				2504	0.0					uc004bmj.1		NA																	0				skin(3)|pancreas(1)|breast(1)	5						c.(511-513)GCG>GTG		olfactory receptor, family 1, subfamily J,							185.0	153.0	164.0					9																	125273592		2203	4300	6503	SO:0001583	missense	26740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125273592C>T		CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.512C>T	9.37:g.125273592C>T	ENSP00000335575:p.Ala171Val					OR1J2_uc011lyv.1_Missense_Mutation_p.A171V	p.A171V	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN			4	1367	+			171			Extracellular (Potential).		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	c.512C>T	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743796	0.30865	.	.	ENSG00000197233	ENST00000335302	T	0.36340	1.26	4.77	-9.55	0.00569	GPCR, rhodopsin-like superfamily (1);	0.794537	0.10174	U	0.706754	T	0.31040	0.0784	L	0.34521	1.04	0.09310	N	1	B	0.28713	0.22	B	0.29663	0.105	T	0.26189	-1.0110	10	0.51188	T	0.08	.	26.4696	0.99996	0.1161:0.8838:0.0:0.0	.	171	Q8NGS2	OR1J2_HUMAN	V	171	ENSP00000335575:A171V	ENSP00000335575:A171V	A	+	2	0	OR1J2	124313413	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.289000	0.08365	-2.557000	0.00476	-2.825000	0.00108	GCG		0.532	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			18	136	0	0	0	0	18	136				
RXRA	6256	broad.mit.edu	37	9	137328333	137328333	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:137328333G>A	ENST00000481739.1	+	10	1314	c.1262G>A	c.(1261-1263)cGc>cAc	p.R421H	RXRA_ENST00000540193.1_Missense_Mutation_p.R324H|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	421	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CTCTTGCTCCGCCTGCCGGCT	0.607																																						uc004cfb.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1261-1263)CGC>CAC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						113.0	101.0	105.0					9																	137328333		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328333G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1262G>A	9.37:g.137328333G>A	ENSP00000419692:p.Arg421His					RXRA_uc004cfc.1_Missense_Mutation_p.R324H	p.R421H	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1424	+			421			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1262G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.739089	0.89573	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96830	-4.14;-4.14	4.61	4.61	0.57282	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98921	0.9634	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99581	1.0973	10	0.87932	D	0	.	17.4569	0.87609	0.0:0.0:1.0:0.0	.	421	P19793	RXRA_HUMAN	H	421;324	ENSP00000419692:R421H;ENSP00000442123:R324H	ENSP00000419692:R421H	R	+	2	0	RXRA	136468154	1.000000	0.71417	0.981000	0.43875	0.654000	0.38779	9.494000	0.97962	2.121000	0.65114	0.591000	0.81541	CGC		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		9	110	0	0	0	0	9	110				
NOTCH1	4851	broad.mit.edu	37	9	139395018	139395018	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:139395018G>A	ENST00000277541.6	-	31	5995	c.5920C>T	c.(5920-5922)Caa>Taa	p.Q1974*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1974					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AAGACACCTTGTGCGTCGGCA	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(5920-5922)CAA>TAA		notch1 preproprotein							49.0	61.0	57.0					9																	139395018		2185	4287	6472	SO:0001587	stop_gained	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139395018G>A	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5920C>T	9.37:g.139395018G>A	ENSP00000277541:p.Gln1974*	HNSCC(8;0.001)					p.Q1974*	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	31	5920	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1974			ANK 2.|Cytoplasmic (Potential).		Q59ED8|Q5SXM3	Nonsense_Mutation	SNP	ENST00000277541.6	37	c.5920C>T	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	44	11.085043	0.99513	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.68	4.68	0.58851	.	0.061993	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	16.9985	0.86375	0.0:0.0:1.0:0.0	.	.	.	.	X	1974	.	ENSP00000277541:Q1974X	Q	-	1	0	NOTCH1	138514839	1.000000	0.71417	0.938000	0.37757	0.171000	0.22731	9.557000	0.98129	2.322000	0.78497	0.555000	0.69702	CAA		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		21	105	0	0	0	0	21	105				
CACNA1B	774	broad.mit.edu	37	9	140946543	140946543	+	Splice_Site	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr9:140946543G>A	ENST00000371372.1	+	25	3855		c.e25-1		CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CTCCCTTCTAGAGGATCCAAA	0.572																																						uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.e25-1		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						34.0	39.0	37.0					9																	140946543		2015	4193	6208	SO:0001630	splice_region_variant	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140946543G>A	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.3711-1G>A	9.37:g.140946543G>A						CACNA1B_uc011mfd.1_Splice_Site_p.S767_splice|CACNA1B_uc004coi.2_Splice_Site_p.G451_splice	p.S1237_splice	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	25	3856	+	all_cancers(76;0.166)							B1AQK5	Splice_Site	SNP	ENST00000371372.1	37	c.3711_splice	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770348	0.90108	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0987	0.89499	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	140066364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.663000	0.74431	2.332000	0.79248	0.561000	0.74099	.		0.572	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Intron	7	11	0	0	0	0	7	11				
FAM9A	171482	broad.mit.edu	37	X	8759387	8759387	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:8759387T>G	ENST00000543214.1	-	9	1099	c.964A>C	c.(964-966)Att>Ctt	p.I322L	FAM9A_ENST00000381003.3_Missense_Mutation_p.I322L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	322						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				CTGGAAGAAATGATGCAATAA	0.348																																						uc004csg.2		NA																	0					0						c.(964-966)ATT>CTT		family with sequence similarity 9, member A							106.0	89.0	94.0					X																	8759387		2202	4300	6502	SO:0001583	missense	171482					nucleolus		g.chrX:8759387T>G		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.964A>C	X.37:g.8759387T>G	ENSP00000440163:p.Ile322Leu						p.I322L	NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN			9	1075	-		Hepatocellular(5;0.219)	322					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.964A>C	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	T	4.460	0.085295	0.08583	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.696	-1.39	0.08997	.	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.15464	-1.0436	7	0.56958	D	0.05	.	.	.	.	.	322	Q8IZU1	FAM9A_HUMAN	L	322	.	ENSP00000370391:I322L	I	-	1	0	FAM9A	8719387	0.003000	0.15002	0.000000	0.03702	0.003000	0.03518	-0.539000	0.06113	-1.208000	0.02634	-0.749000	0.03505	ATT		0.348	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951		10	22	0	0	0	0	10	22				
MAP7D2	256714	broad.mit.edu	37	X	20033405	20033405	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:20033405T>G	ENST00000379651.3	-	11	1580	c.1562A>C	c.(1561-1563)cAg>cCg	p.Q521P	MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q562P|MIR23C_ENST00000579846.1_RNA|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q469P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q476P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q406P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	521					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GAGACGCATCTGTTCAGCTAC	0.458																																						uc004czr.1		NA																	0				ovary(2)|breast(1)	3						c.(1561-1563)CAG>CCG		MAP7 domain containing 2							174.0	134.0	148.0					X																	20033405		2203	4300	6503	SO:0001583	missense	256714							g.chrX:20033405T>G	BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.1562A>C	X.37:g.20033405T>G	ENSP00000368972:p.Gln521Pro					MAP7D2_uc004czq.1_Missense_Mutation_p.Q406P|MAP7D2_uc011mji.1_Missense_Mutation_p.Q469P|MAP7D2_uc010nfo.1_Missense_Mutation_p.Q562P|MAP7D2_uc011mjj.1_Missense_Mutation_p.Q476P	p.Q521P	NM_152780	NP_689993	Q96T17	MA7D2_HUMAN			11	1581	-			521					B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Missense_Mutation	SNP	ENST00000379651.3	37	c.1562A>C	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	T	14.72	2.619918	0.46736	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000543767;ENST00000443379;ENST00000544957;ENST00000452324	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.6	5.6	0.85130	.	0.305004	0.28883	N	0.013833	T	0.48223	0.1488	M	0.78049	2.395	0.38325	D	0.943631	D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998	D;P;P;D;P	0.63488	0.915;0.862;0.862;0.915;0.905	T	0.57370	-0.7823	10	0.66056	D	0.02	-12.1593	10.8949	0.47017	0.0:0.0:0.1549:0.8451	.	476;469;562;521;406	B7Z3S7;C9JYW0;Q96T17-2;Q96T17;F5GYC2	.;.;.;MA7D2_HUMAN;.	P	521;562;406;476;204;469	ENSP00000368972:Q521P;ENSP00000368964:Q562P;ENSP00000440691:Q406P;ENSP00000388239:Q476P;ENSP00000413301:Q469P	ENSP00000368964:Q562P	Q	-	2	0	MAP7D2	19943326	0.992000	0.36948	1.000000	0.80357	0.288000	0.27193	2.322000	0.43814	1.880000	0.54463	0.413000	0.27773	CAG		0.458	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1	NM_152780		14	62	0	0	0	0	14	62				
JADE3	9767	broad.mit.edu	37	X	46915504	46915504	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:46915504G>C	ENST00000218343.4	+	10	1762	c.1464G>C	c.(1462-1464)atG>atC	p.M488I	PHF16_ENST00000397189.1_Missense_Mutation_p.M488I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCTATATGATAAGCAGAC	0.398																																						uc004dgx.2		NA																	0					0						c.(1462-1464)ATG>ATC		PHD finger protein 16							110.0	88.0	96.0					X																	46915504		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46915504G>C																												ENST00000218343.4:c.1464G>C	X.37:g.46915504G>C	ENSP00000218343:p.Met488Ile					PHF16_uc004dgy.2_Missense_Mutation_p.M488I	p.M488I	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			10	1515	+			488						Missense_Mutation	SNP	ENST00000218343.4	37	c.1464G>C	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941082	0.92526	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.54675	0.56;0.56	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.75554	0.3865	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.79157	-0.1919	10	0.87932	D	0	.	18.5887	0.91200	0.0:0.0:1.0:0.0	.	488	Q92613	JADE3_HUMAN	I	488	ENSP00000380373:M488I;ENSP00000218343:M488I	ENSP00000218343:M488I	M	+	3	0	PHF16	46800448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.341000	0.97041	2.333000	0.79357	0.600000	0.82982	ATG		0.398	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			3	24	0	0	0	0	3	24				
ZMYM3	9203	broad.mit.edu	37	X	70470529	70470529	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:70470529C>T	ENST00000353904.2	-	5	1013	c.826G>A	c.(826-828)Gat>Aat	p.D276N	ZMYM3_ENST00000373981.1_Missense_Mutation_p.D276N|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D276N|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000373998.1_Missense_Mutation_p.D276N|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D278N	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	276					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AAGTCCTCATCATTGGGGTCA	0.567																																						uc004dzh.1		NA																	0				ovary(1)	1						c.(826-828)GAT>AAT		zinc finger protein 261							55.0	40.0	45.0					X																	70470529		2202	4298	6500	SO:0001583	missense	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70470529C>T	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.826G>A	X.37:g.70470529C>T	ENSP00000343909:p.Asp276Asn					BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.1_Missense_Mutation_p.D276N|ZMYM3_uc004dzj.1_Missense_Mutation_p.D276N|ZMYM3_uc011mpu.1_Missense_Mutation_p.D7N|ZMYM3_uc004dzk.3_Missense_Mutation_p.D276N|ZMYM3_uc004dzl.3_Missense_Mutation_p.D276N|ZMYM3_uc004dzm.3_Missense_Mutation_p.D276N	p.D276N	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN			5	913	-	Renal(35;0.156)		276					D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	c.826G>A	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	c	25.7	4.666887	0.88251	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981	T;T;T;T;T;T;T	0.59906	1.24;0.65;1.24;1.23;1.24;0.36;0.23	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000007	T	0.64182	0.2575	L	0.27053	0.805	0.39175	D	0.962675	D;D;D;D	0.69078	0.997;0.997;0.996;0.993	D;D;D;D	0.77004	0.989;0.989;0.981;0.956	T	0.64706	-0.6344	10	0.31617	T	0.26	-11.6008	16.9703	0.86297	0.0:1.0:0.0:0.0	.	278;276;276;276	A6NL54;Q96E26;Q14202-2;Q14202	.;.;.;ZMYM3_HUMAN	N	276;276;276;278;278;278;276	ENSP00000322845:D276N;ENSP00000363110:D276N;ENSP00000343909:D276N;ENSP00000363096:D278N;ENSP00000363100:D278N;ENSP00000363094:D278N;ENSP00000363093:D276N	ENSP00000322845:D276N	D	-	1	0	ZMYM3	70387254	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.417000	0.66423	2.271000	0.75665	0.529000	0.55759	GAT		0.567	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		4	14	0	0	0	0	4	14				
ACSL4	2182	broad.mit.edu	37	X	108926545	108926545	+	Silent	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:108926545A>G	ENST00000469796.2	-	3	567	c.171T>C	c.(169-171)agT>agC	p.S57S	ACSL4_ENST00000348502.6_Silent_p.S16S|ACSL4_ENST00000340800.2_Silent_p.S57S			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	57					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	AGCGATATGGACTTCCAGGTT	0.403																																					Pancreas(188;358 2127 38547 41466 45492)	uc004eoi.2		NA																	0				large_intestine(1)|lung(1)|ovary(1)	3						c.(169-171)AGT>AGC		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						230.0	217.0	222.0					X																	108926545		2203	4299	6502	SO:0001819	synonymous_variant	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926545A>G	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.171T>C	X.37:g.108926545A>G						ACSL4_uc004eoj.2_Silent_p.S16S|ACSL4_uc004eok.2_Silent_p.S16S|ACSL4_uc010npp.1_Silent_p.S57S	p.S57S	NM_022977	NP_075266	O60488	ACSL4_HUMAN			4	676	-			57			Cytoplasmic (Potential).		D3DUY2|O60848|O60849|Q5JWV8	Silent	SNP	ENST00000469796.2	37	c.171T>C	CCDS14548.1																																																																																				0.403	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		5	190	0	0	0	0	5	190				
AMOT	154796	broad.mit.edu	37	X	112048305	112048305	+	Missense_Mutation	SNP	C	C	T	rs147627113	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:112048305C>T	ENST00000524145.1	-	6	1720	c.1646G>A	c.(1645-1647)cGt>cAt	p.R549H	AMOT_ENST00000371958.1_Missense_Mutation_p.R317H|AMOT_ENST00000371959.3_Missense_Mutation_p.R549H|AMOT_ENST00000371962.1_Missense_Mutation_p.R317H|AMOT_ENST00000304758.1_Missense_Mutation_p.R140H			Q4VCS5	AMOT_HUMAN	angiomotin	549					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CTCCTTCTCACGCTGGCTTTC	0.498																																						uc004epr.2		NA																	0				ovary(1)	1						c.(1645-1647)CGT>CAT		angiomotin isoform 1		C	HIS/ARG,HIS/ARG	2,3833		0,2,1630,571	207.0	181.0	190.0		1646,419	4.2	0.5	X	dbSNP_134	190	0,6728		0,0,2428,1872	yes	missense,missense	AMOT	NM_001113490.1,NM_133265.2	29,29	0,2,4058,2443	TT,TC,CC,C		0.0,0.0522,0.0189	probably-damaging,probably-damaging	549/1085,140/676	112048305	2,10561	2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112048305C>T	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1646G>A	X.37:g.112048305C>T	ENSP00000429013:p.Arg549His					AMOT_uc004eps.2_Missense_Mutation_p.R140H	p.R549H	NM_001113490	NP_001106962	Q4VCS5	AMOT_HUMAN			5	1646	-			549			Potential.		Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.1646G>A	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	c	20.5	3.998995	0.74818	5.22E-4	0.0	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000371958	T;T;T;T;T	0.22336	1.96;1.97;1.97;1.97;1.97	5.96	4.2	0.49525	.	0.227351	0.43747	D	0.000528	T	0.32793	0.0841	M	0.70595	2.14	0.47659	D	0.99948	D	0.63046	0.992	P	0.51266	0.664	T	0.04373	-1.0956	10	0.48119	T	0.1	-10.3262	11.1042	0.48193	0.0:0.8479:0.0:0.1521	.	549	Q4VCS5	AMOT_HUMAN	H	140;549;317;549;317	ENSP00000305557:R140H;ENSP00000361027:R549H;ENSP00000361030:R317H;ENSP00000429013:R549H;ENSP00000361026:R317H	ENSP00000305557:R140H	R	-	2	0	AMOT	111934961	0.996000	0.38824	0.546000	0.28166	0.988000	0.76386	3.235000	0.51328	0.645000	0.30675	0.597000	0.82753	CGT		0.498	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		6	158	0	0	0	0	6	158				
LRCH2	57631	broad.mit.edu	37	X	114357438	114357438	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:114357438A>G	ENST00000317135.8	-	19	2015	c.1985T>C	c.(1984-1986)gTa>gCa	p.V662A	LRCH2_ENST00000538422.1_Missense_Mutation_p.V645A	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	662	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.									breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGGCAAAATTACTTTTAACCT	0.328																																						uc010nqe.2		NA																	0				ovary(1)	1						c.(1984-1986)GTA>GCA		leucine-rich repeats and calponin homology (CH)							96.0	86.0	89.0					X																	114357438		1918	4120	6038	SO:0001583	missense	57631							g.chrX:114357438A>G	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.1985T>C	X.37:g.114357438A>G	ENSP00000325091:p.Val662Ala					LRCH2_uc004epz.2_Missense_Mutation_p.V645A	p.V662A	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN			19	2016	-			662			CH.		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.1985T>C	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	A	17.72	3.459484	0.63401	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	T;T	0.01051	5.43;5.4	5.55	5.55	0.83447	Calponin homology domain (4);	0.131302	0.50627	D	0.000112	T	0.06462	0.0166	M	0.76328	2.33	0.58432	D	0.999999	D;P	0.76494	0.999;0.923	D;P	0.80764	0.994;0.774	T	0.03202	-1.1061	10	0.72032	D	0.01	-4.4468	13.444	0.61129	1.0:0.0:0.0:0.0	.	662;645	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	A	662;141;645	ENSP00000325091:V662A;ENSP00000439366:V645A	ENSP00000325091:V662A	V	-	2	0	LRCH2	114263694	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.761000	0.91691	2.056000	0.61249	0.441000	0.28932	GTA		0.328	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		3	17	0	0	0	0	3	17				
KIAA1210	57481	broad.mit.edu	37	X	118220735	118220735	+	Silent	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:118220735C>T	ENST00000402510.2	-	11	4457	c.4458G>A	c.(4456-4458)tcG>tcA	p.S1486S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1486										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TATACTTCTGCGAGGGAGGGG	0.448																																						uc004era.3		NA																	0				ovary(4)|skin(1)	5						c.(4456-4458)TCG>TCA		hypothetical protein LOC57481							67.0	66.0	66.0					X																	118220735		1884	4107	5991	SO:0001819	synonymous_variant	57481							g.chrX:118220735C>T	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4458G>A	X.37:g.118220735C>T							p.S1486S	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			11	4458	-			1486					B7ZCI8|Q5JPN4	Silent	SNP	ENST00000402510.2	37	c.4458G>A	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	2.731	-0.264496	0.05754	.	.	ENSG00000248857	ENST00000440399	.	.	.	4.5	-3.93	0.04143	.	.	.	.	.	T	0.26955	0.0660	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.30504	-0.9976	4	.	.	.	.	5.9858	0.19434	0.0:0.4379:0.149:0.4131	.	.	.	.	T	893	.	.	A	-	1	0	KIAA1210	118104763	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.116000	0.03286	-0.963000	0.03600	-1.375000	0.01183	GCA		0.448	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721		3	32	0	0	0	0	3	32				
PASD1	139135	broad.mit.edu	37	X	150828296	150828296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:150828296C>T	ENST00000370357.4	+	10	1074	c.829C>T	c.(829-831)Cct>Tct	p.P277S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	277						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GGATACTATGCCTGAATCTCC	0.383																																						uc004fev.3		NA																	0				ovary(3)	3						c.(829-831)CCT>TCT		PAS domain containing 1							185.0	154.0	165.0					X																	150828296		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150828296C>T	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.829C>T	X.37:g.150828296C>T	ENSP00000359382:p.Pro277Ser						p.P277S	NM_173493	NP_775764	Q8IV76	PASD1_HUMAN			10	1161	+	Acute lymphoblastic leukemia(192;6.56e-05)		277					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.829C>T	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	9.388	1.074663	0.20227	.	.	ENSG00000166049	ENST00000370357	T	0.68903	-0.36	3.39	-2.06	0.07298	.	.	.	.	.	T	0.38639	0.1048	N	0.12182	0.205	0.09310	N	1	P	0.37101	0.582	B	0.32583	0.148	T	0.20140	-1.0284	9	0.27082	T	0.32	.	5.4087	0.16336	0.0:0.2546:0.5077:0.2377	.	277	Q8IV76	PASD1_HUMAN	S	277	ENSP00000359382:P277S	ENSP00000359382:P277S	P	+	1	0	PASD1	150578952	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.162000	0.03141	-0.661000	0.05345	0.600000	0.82982	CCT		0.383	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		4	45	0	0	0	0	4	45				
GABRQ	55879	broad.mit.edu	37	X	151821396	151821396	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:151821396G>T	ENST00000370306.2	+	9	1571	c.1551G>T	c.(1549-1551)aaG>aaT	p.K517N		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	517					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCAGTGGGAAGCCCATGCTTC	0.547																																						uc004ffp.1		NA																	0				ovary(2)|pancreas(1)	3						c.(1549-1551)AAG>AAT		gamma-aminobutyric acid (GABA) receptor, theta							82.0	69.0	73.0					X																	151821396		2203	4300	6503	SO:0001583	missense	55879					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity	g.chrX:151821396G>T	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1551G>T	X.37:g.151821396G>T	ENSP00000359329:p.Lys517Asn						p.K517N	NM_018558	NP_061028	Q9UN88	GBRT_HUMAN			9	1571	+	Acute lymphoblastic leukemia(192;6.56e-05)		517					A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	c.1551G>T	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622468	0.28889	.	.	ENSG00000147402	ENST00000370306	D	0.85556	-2.0	4.56	2.76	0.32466	Neurotransmitter-gated ion-channel transmembrane domain (2);	.	.	.	.	T	0.70448	0.3225	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.30316	0.114	T	0.62220	-0.6900	9	0.87932	D	0	.	4.671	0.12689	0.1126:0.0:0.673:0.2143	.	517	Q9UN88	GBRT_HUMAN	N	517	ENSP00000359329:K517N	ENSP00000359329:K517N	K	+	3	2	GABRQ	151572052	0.015000	0.18098	0.001000	0.08648	0.037000	0.13140	1.557000	0.36299	0.624000	0.30286	0.529000	0.55759	AAG		0.547	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558		4	60	1	0	0.00909568	0.00947732	4	60				
SLC6A8	6535	broad.mit.edu	37	X	152960239	152960239	+	Silent	SNP	G	G	A	rs149677083	byFrequency	TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrX:152960239G>A	ENST00000253122.5	+	12	2138	c.1662G>A	c.(1660-1662)ccG>ccA	p.P554P	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.P439P	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	554			P -> L (in CCDS1). {ECO:0000269|PubMed:15154114}.		cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ACGTGTACCCGTGGTGGGGTG	0.622																																						uc004fib.3		NA																	0				pancreas(1)	1						c.(1660-1662)CCG>CCA		solute carrier family 6 member 8 isoform 1	Creatine(DB00148)	A	,,	1,3833		0,1,0,1631,570	51.0	43.0	46.0		1632,1317,1662	-0.9	1.0	X	dbSNP_134	46	3,6725		0,2,1,2426,1871	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC6A8	NM_001142805.1,NM_001142806.1,NM_005629.3	,,	0,3,1,4057,2441	AA,AG,A,GG,G		0.0446,0.0261,0.0379	,,	544/626,439/521,554/636	152960239	4,10558	2202	4300	6502	SO:0001819	synonymous_variant	6535				creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity	g.chrX:152960239G>A		CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1662G>A	X.37:g.152960239G>A						SLC6A8_uc004fic.3_Silent_p.P544P|SLC6A8_uc011myx.1_Silent_p.P439P|SLC6A8_uc010nuj.2_RNA	p.P554P	NM_005629	NP_005620	P48029	SC6A8_HUMAN			12	1940	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		554		P -> L (in XL-CDS).	Extracellular (Potential).		B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	c.1662G>A	CCDS14726.1																																																																																				0.622	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1			8	32	0	0	0	0	8	32				
PCDH11Y	83259	broad.mit.edu	37	Y	4968225	4968225	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chrY:4968225G>A	ENST00000333703.4	+	5	3086	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R869H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R869H	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	869					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GTAAGATGTCGCCAGGCACCA	0.448																																						uc004fqo.2		NA																	0					0						c.(2605-2607)CGC>CAC		protocadherin 11 Y-linked isoform c																																				SO:0001583	missense	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968225G>A	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2573G>A	Y.37:g.4968225G>A	ENSP00000330552:p.Arg858His					PCDH11Y_uc010nwg.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fql.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fqm.1_Missense_Mutation_p.R858H|PCDH11Y_uc004fqn.1_Missense_Mutation_p.R869H|PCDH11Y_uc004fqp.1_Missense_Mutation_p.R640H	p.R869H	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			2	3340	+			869			Cytoplasmic (Potential).		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Missense_Mutation	SNP	ENST00000333703.4	37	c.2606G>A	CCDS14776.1																																																																																				0.448	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		22	44	0	0	0	0	22	44				
CHD2	1106	broad.mit.edu	37	15	93545433	93545434	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7394-01A-11D-2012-08	TCGA-CR-7394-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1fe9a612-4c9a-432d-b175-e1d8bdbc7c56	0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca	g.chr15:93545433_93545434insA	ENST00000394196.4	+	33	5232_5233	c.4164_4165insA	c.(4165-4167)aaafs	p.K1389fs	CHD2_ENST00000557381.1_Frame_Shift_Ins_p.K1389fs	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1389					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAAGTCCAATgaaaaaaaaaca	0.337																																						uc002bsp.2		NA																	0				ovary(1)|skin(1)	2						c.(4162-4167)ATGAAAfs		chromodomain helicase DNA binding protein 2																																				SO:0001589	frameshift_variant	1106				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr15:93545433_93545434insA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.4173dupA	15.37:g.93545442_93545442dupA	ENSP00000377747:p.Lys1389fs					CHD2_uc002bso.1_Frame_Shift_Ins_p.M1388fs	p.M1388fs	NM_001271	NP_001262	O14647	CHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)		33	4739_4740	+	Lung NSC(78;0.00976)|all_lung(78;0.016)		1388_1389					C6G482|Q96IP5	Frame_Shift_Ins	INS	ENST00000394196.4	37	c.4164_4165insA	CCDS10374.2																																																																																				0.337	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271		7	129	NA	NA	NA	NA	7	129	---	---	---	---
